Bibliographie der Universität Regensburg

Universität Regensburg (567)
- Medizin (567)
  - Lehrstuhl für Humangenetik (567)

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Anzahl der Einträge in dieser Kategorie: 567.

Artikel

Kiel, Christina, Biasella, Fabiola, Stöhr, Heidi, Rating, Philipp, Spital, Georg, Kellner, Ulrich, Hufendiek, Karsten, Huchzermeyer, Cord, Jaegle, Herbert, Ruether, Klaus und Weber, Bernhard H. F.

(2024) 18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies. Scientific Reports 14 (1).

Berber, Patricia, Bondarenko, Sofiia, Michaelis, Lisa und Weber, Bernhard Heinrich Friedrich (2022) Transient Retention of Photoreceptor Outer Segments in Matrigel-Embedded Retinal Organoids. International Journal of Molecular Sciences 23 (23), S. 14893.

Schmid, Verena, Wurzel, Alexander

, Wetzel, Christian H.

, Plössl, Karolina, Bruckmann, Astrid, Luckner, Patricia, Weber, Bernhard H. F. und Friedrich, Ulrike (2022) Retinoschisin and novel Na/K-ATPase interaction partners Kv2.1 and Kv8.2 define a growing protein complex at the inner segments of mammalian photoreceptors. Cellular and Molecular Life Sciences 79 (8), S. 448.

Biasella, Fabiola, Strunz, Tobias

, Kiel, Christina

, Weber, Bernhard H. F. und Friedrich, Ulrike (2022) Vitronectin and Its Interaction with PAI-1 Suggests a Functional Link to Vascular Changes in AMD Pathobiology. Cells 11 (11), S. 1766.

Brandl, Caroline, Zimmermann, Martina E.

, Günther, Felix, Dietl, Alexander, Küchenhoff, Helmut, Loss, Julika, Stark, Klaus J. und Heid, Iris M. (2022) Changes in healthcare seeking and lifestyle in old aged individuals during COVID-19 lockdown in Germany: the population-based AugUR study. BMC Geriatrics 22, S. 34.

Brandl, Caroline

, Günther, Felix, Zimmermann, Martina E.

, Hartmann, Kathrin I., Eberlein, Gregor, Barth, Teresa

, Winkler, Thomas W.

, Linkohr, Birgit

, Heier, Margit, Peters, Annette

, Li, Jeany Q.

, Finger, Robert P.

, Helbig, Horst, Weber, Bernhard H. F.

, Küchenhoff, Helmut

, Mueller, Arthur, Stark, Klaus J. und Heid, Iris M.

(2022) Incidence, progression and risk factors of age-related macular degeneration in 35–95-year-old individuals from three jointly designed German cohort studies. BMJ Open Ophthalmology 2022 (7), S. 1-11.

Li, Shuai

, Silvestri, Valentina

, Leslie, Goska

, Rebbeck, Timothy R., Neuhausen, Susan L.

, Hopper, John L.

, Nielsen, Henriette Roed, Lee, Andrew

, Yang, Xin, McGuffog, Lesley, Parsons, Michael T.

, Andrulis, Irene L., Arnold, Norbert

, Belotti, Muriel, Borg, Åke, Buecher, Bruno, Buys, Saundra S., Caputo, Sandrine M.

, Chung, Wendy K., Colas, Chrystelle, Colonna, Sarah V., Cook, Jackie, Daly, Mary B., de la Hoya, Miguel, de Pauw, Antoine, Delhomelle, Hélène, Eason, Jacqueline, Engel, Christoph

, Evans, D. Gareth

, Faust, Ulrike, Fehm, Tanja N., Fostira, Florentia, Fountzilas, George, Frone, Megan, Garcia-Barberan, Vanesa

, Garre, Pilar, Gauthier-Villars, Marion, Gehrig, Andrea, Glendon, Gord, Goldgar, David E., Golmard, Lisa, Greene, Mark H., Hahnen, Eric, Hamann, Ute, Hanson, Helen, Hassan, Tiara, Hentschel, Julia, Horvath, Judit, Izatt, Louise, Janavicius, Ramunas, Jiao, Yue, John, Esther M., Karlan, Beth Y., Kim, Sung-Won, Konstantopoulou, Irene, Kwong, Ava, Laugé, Anthony, Lee, Jong Won

, Lesueur, Fabienne

, Mebirouk, Noura, Meindl, Alfons, Mouret-Fourme, Emmanuelle, Musgrave, Hannah, Ngeow Yuen Yie, Joanne, Niederacher, Dieter, Park, Sue K., Pedersen, Inge Sokilde, Ramser, Juliane, Ramus, Susan J., Rantala, Johanna, Rashid, Muhammad U.

, Reichl, Florian, Ritter, Julia, Rump, Andreas, Santamariña, Marta

, Saule, Claire, Schmidt, Gunnar, Schmutzler, Rita K., Senter, Leigha, Shariff, Saba, Singer, Christian F., Southey, Melissa C., Stoppa-Lyonnet, Dominique, Sutter, Christian, Tan, Yen

, Teo, Soo Hwang

, Terry, Mary Beth

, Thomassen, Mads, Tischkowitz, Marc, Toland, Amanda E., Torres, Diana, Vega, Ana, Wagner, Sebastian A., Wang-Gohrke, Shan, Wappenschmidt, Barbara, Weber, Bernhard H. F., Yannoukakos, Drakoulis, Spurdle, Amanda B., Easton, Douglas F., Chenevix-Trench, Georgia, Ottini, Laura und Antoniou, Antonis C. (2022) Cancer Risks Associated With BRCA1 and BRCA2 Pathogenic Variants. Journal of Clinical Oncology 40 (14), S. 1529-1541. Volltext nicht vorhanden.

Strunz, Tobias

, Pöllmann, Michael, Gamulescu, Maria-Andreea, Tamm, Svenja und Weber, Bernhard H. F.

(2022) Genetic Association Analysis of Anti-VEGF Treatment Response in Neovascular Age-Related Macular Degeneration. International Journal of Molecular Sciences 23 (11), S. 6094. Volltext nicht vorhanden.

Carlens, Julia, Johnson, K. Taneille, Bush, Andrew, Renz, Diane, Hehr, Ute, Laenger, Florian, Hogg, Claire, Wetzke, Martin, Schwerk, Nicolaus und Rayment, Jonathan H. (2022) Heterogenous Disease Course and Long-Term Outcome of Children’s Interstitial Lung Disease Related to Filamin A Gene Variants. Annals of the American Thoracic Society 19 (12), S. 2021-2030. Volltext nicht vorhanden.

Gersch, Julia, Hufendiek, Katerina

, Delarocque, Julien

, Framme, Carsten, Jacobsen, Christina

, Stöhr, Heidi, Kellner, Ulrich

und Hufendiek, Karsten

(2022) Investigation of Structural Alterations in Inherited Retinal Diseases: A Quantitative SD-OCT-Analysis of Retinal Layer Thicknesses in Light of Underlying Genetic Mutations. International Journal of Molecular Sciences 23 (24), S. 16007. Volltext nicht vorhanden.

Demais, Valerie, Pohl, Anne, Wunderlich, Kirsten A., Pfaller, Anna M., Kaplan, Lew

, Barthélémy, Amelie, Dittrich, Robin, Puig, Berta

, Giebel, Bernd

, Hauck, Stefanie M.

, Pfrieger, Frank W.

und Grosche, Antje

(2022) Release of VAMP5‐positive extracellular vesicles by retinal Müller glia in vivo. Journal of Extracellular Vesicles 11 (9). Volltext nicht vorhanden.

den Hollander, Anneke I., Mullins, Robert F., Orozco, Luz D., Voigt, Andrew P., Chen, Hsu-Hsin, Strunz, Tobias

, Grassmann, Felix, Haines, Jonathan L., Kuiper, Jonas J.W., Tumminia, Santa J., Allikmets, Rando, Hageman, Gregory S., Stambolian, Dwight, Klaver, Caroline C.W., Boeke, Jef D., Chen, Hao, Honigberg, Lee, Katti, Suresh, Frazer, Kelly A.

, Weber, Bernhard H.F. und Gorin, Michael B. (2022) Systems genomics in age-related macular degeneration. Experimental Eye Research 225, S. 109248. Volltext nicht vorhanden.

Dumont, Martine

, Weber-Lassalle, Nana, Joly-Beauparlant, Charles, Ernst, Corinna

, Droit, Arnaud, Feng, Bing-Jian, Dubois, Stéphane, Collin-Deschesnes, Annie-Claude, Soucy, Penny, Vallée, Maxime, Fournier, Frédéric, Lemaçon, Audrey, Adank, Muriel A., Allen, Jamie, Altmüller, Janine, Arnold, Norbert

, Ausems, Margreet G. E. M.

, Berutti, Riccardo, Bolla, Manjeet K., Bull, Shelley

, Carvalho, Sara, Cornelissen, Sten, Dufault, Michael R.

, Dunning, Alison M., Engel, Christoph

, Gehrig, Andrea, Geurts-Giele, Willemina R. R., Gieger, Christian, Green, Jessica, Hackmann, Karl, Helmy, Mohamed, Hentschel, Julia, Hogervorst, Frans B. L., Hollestelle, Antoinette, Hooning, Maartje J., Horváth, Judit, Ikram, M. Arfan, Kaulfuß, Silke

, Keeman, Renske, Kuang, Da, Luccarini, Craig, Maier, Wolfgang, Martens, John W. M.

, Niederacher, Dieter, Nürnberg, Peter

, Ott, Claus-Eric

, Peters, Annette

, Pharoah, Paul D. P., Ramirez, Alfredo

, Ramser, Juliane, Riedel-Heller, Steffi, Schmidt, Gunnar

, Shah, Mitul, Scherer, Martin, Stäbler, Antje, Strom, Tim M., Sutter, Christian, Thiele, Holger, van Asperen, Christi J., van der Kolk, Lizet, van der Luijt, Rob B., Volk, Alexander E., Wagner, Michael

, Waisfisz, Quinten, Wang, Qin, Wang-Gohrke, Shan, Weber, Bernhard H. F.

, Devilee, Peter

, Tavtigian, Sean, Bader, Gary D.

, Meindl, Alfons, Goldgar, David E., Andrulis, Irene L., Schmutzler, Rita K., Easton, Douglas F., Schmidt, Marjanka K.

, Hahnen, Eric und Simard, Jacques

(2022) Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry. Cancers 14 (14), S. 3363. Volltext nicht vorhanden.

Strunz, Tobias

, Kellner, Martin, Kiel, Christina

und Weber, Bernhard H. F.

(2021) Assigning Co-Regulated Human Genes and Regulatory Gene Clusters. Cells 10 (9), S. 1-13.

Weber, Bernhard H. F.

, Kiel, Christina, Nebauer, Christoph A.

, Strunz, Tobias und Stelzl, Simon

(2021) Epistatic interactions of genetic loci associated with age-related macular degeneration. Scientific Reports 2021 (11), S. 1-11.

Lubnow, Matthias

, Schmidt, Barbara, Fleck, Martin, Salzberger, Bernd, Müller, Thomas, Peschel, Georg, Schneckenpointner, Roland, Lange, Tobias, Hitzenbichler, Florian

, Kieninger, Martin, Lunz, Dirk, Graf, Bernhard, Brochhausen, Christoph, Weber, Florian, Lüke, Florian, Peterhoff, David, Schuster, Philipp, Hiergeist, Andreas, Offner, Robert, Hehr, Ute, Wallner, Stefan, Hanses, Frank

, Schmid, Stephan, Weigand, Kilian, Geismann, Florian

, Poeck, Hendrik, Pukrop, Tobias, Evert, Matthias, Gessner, Andre, Burkhardt, Ralph

, Herr, Wolfgang, Maier, Lars S.

und Heudobler, Daniel (2021) Secondary hemophagocytic lymphohistiocytosis and severe liver injury induced by hepatic SARS-CoV-2 infection unmasking Wilson’s disease: Balancing immunosuppression. International Journal of Infectious Diseases 103 (2021), S. 624-627.

Plössl, Karolina, Milenkovic, Andrea und Weber, Bernhard H. F. (2021) Challenges and opportunities for modeling monogenic and complex disorders of the human retina via induced pluripotent stem cell technology. Medizinische Genetik 33 (3), S. 221-227. Volltext nicht vorhanden.

Khuller, Katharina, Yigit, Gökhan, Martínez Grijalva, Carolina, Altmüller, Janine, Thiele, Holger, Nürnberg, Peter, Elcioglu, Nursel H., Yeter, Burcu, Hehr, Ute, Stein, Anja, Della Marina, Adela, Köninger, Angela, Depienne, Christel, Kaiser, Frank J., Wollnik, Bernd und Kuechler, Alma (2021) MFSD2A-associated primary microcephaly - Expanding the clinical and mutational spectrum of this ultra-rare disease. European Journal of Medical Genetics 64 (10), S. 104310. Volltext nicht vorhanden.

Todorow, Vanessa, Hintze, Stefan, Kerr, Alastair R. W., Hehr, Andreas, Schoser, Benedikt und Meinke, Peter (2021) Transcriptome Analysis in a Primary Human Muscle Cell Differentiation Model for Myotonic Dystrophy Type 1. International Journal of Molecular Sciences 22 (16), S. 8607. Volltext nicht vorhanden.

Biasella, Fabiola, Plössl, Karolina

, Karl, Claudia, Weber, Bernhard H. F.

und Friedrich, Ulrike (2020) Altered Protein Function Caused by AMD-associated Variant rs704 Links Vitronectin to Disease Pathology. Investigative Opthalmology & Visual Science 61 (14), S. 2.

Strunz, Tobias

, Kiel, Christina

, Sauerbeck, Bastian L. und Weber, Bernhard H. F.

(2020) Learning from Fifteen Years of Genome-Wide Association Studies in Age-Related Macular Degeneration. Cells 9 (10), S. 2267.

Kiel, Christina

, Strunz, Tobias

, Grassmann, Felix

, Weber, Bernhard H. F.

und make_name_string expected hash reference

(2020) Pleiotropic Locus 15q24.1 Reveals a Gender-Specific Association with Neovascular but Not Atrophic Age-Related Macular Degeneration (AMD). Cells 9 (10), S. 2257.

Strunz, Tobias

, Kiel, Christina

, Grassmann, Felix

, Ratnapriya, Rinki

, Kwicklis, Madeline, Karlstetter, Marcus, Fauser, Sascha, Arend, Nicole, Swaroop, Anand

, Langmann, Thomas, Wolf, Armin und Weber, Bernhard H. F. (2020) A mega-analysis of expression quantitative trait loci in retinal tissue. PLOS Genetics 16 (9), e1008934.

Winkler, Thomas W.

, Grassmann, Felix

, Brandl, Caroline, Kiel, Christina

, Günther, Felix, Strunz, Tobias

, Weidner, Lorraine, Zimmermann, Martina E., Korb, Christina A., Poplawski, Alicia

, Schuster, Alexander K., Müller-Nurasyid, Martina, Peters, Annette

, Rauscher, Franziska G., Elze, Tobias, Horn, Katrin, Scholz, Markus, Cañadas-Garre, Marisa, McKnight, Amy Jayne, Quinn, Nicola, Hogg, Ruth E.

, Küchenhoff, Helmut, Heid, Iris M., Stark, Klaus J. und Weber, Bernhard H. F. (2020) Genome-wide association meta-analysis for early age-related macular degeneration highlights novel loci and insights for advanced disease. BMC Medical Genomics 13, S. 120.

Huchzermeyer, Cord

, Fars, Julien

, Stöhr, Heidi und Kremers, Jan (2020) Neue Techniken zur Quantifizierung des Farbsinns bei Störungen der Zapfenfunktion. Der Ophthalmologe 118 (2), S. 144-153.

Schmid, Verena, Plössl, Karolina, Schmid, Carina, Bernklau, Sarah, Weber, Bernhard H. F.

und Friedrich, Ulrike (2020) Retinoschisin and Cardiac Glycoside Crosstalk at the Retinal Na/K-ATPase. Investigative Opthalmology & Visual Science 61 (5), S. 1-10.

Kiel, Christina

, Berber, Patricia, Karlstetter, Marcus, Aslanidis, Alexander, Strunz, Tobias

, Langmann, Thomas, Grassmann, Felix

und Weber, Bernhard H. F.

(2020) A Circulating MicroRNA Profile in a Laser-Induced Mouse Model of Choroidal Neovascularization. International Journal of Molecular Sciences 21 (8), S. 2689. Volltext nicht vorhanden.

Strunz, Tobias

, Lauwen, Susette, Kiel, Christina

, Hollander, Anneke den und Weber, Bernhard H. F. (2020) A transcriptome-wide association study based on 27 tissues identifies 106 genes potentially relevant for disease pathology in age-related macular degeneration. Scientific Reports 10 (1). Volltext nicht vorhanden.

Runhart, Esmee H., Khan, Mubeen, Cornelis, Stéphanie S., Roosing, Susanne, Del Pozo-Valero, Marta, Lamey, Tina M., Liskova, Petra

, Roberts, Lisa

, Stöhr, Heidi, Klaver, Caroline C. W., Hoyng, Carel B., Cremers, Frans P. M., Dhaenens, Claire-Marie, AlTabishi, Alaa, Ayuso, Carmen, Banfi, Sandro, Ben-Yosef, Tamar, van den Born, L. Ingeborgh, Fakin, Ana, Farrar, G. Jane, Ferraz Sallum, Juliana Maria, Fujinami, Kaoru, Gorin, Michael B., Hlavata, Lucia, Kamakari, Smaragda, Kousal, Bohdan, MacDonald, Ian M., McLaren, Terri L., Matynia, Anna, Oldak, Monika, Podhajcer, Osvaldo L., Ramesar, Raj, De Roach, John N., Sharon, Dror, Simonelli, Francesca, Testa, Francesco, Thompson, Jennifer A., Tracewska, Anna M., Vincent, Andrea L. und Weber, Bernhard H. F. (2020) Association of Sex With Frequent and Mild ABCA4 Alleles in Stargardt Disease. JAMA Ophthalmology 138 (10), S. 1035. Volltext nicht vorhanden.

Hufendiek, Karsten

, Hufendiek, Katerina

, Jägle, Herbert, Stöhr, Heidi, Book, Marius

, Spital, Georg, Rustambayova, Günay, Framme, Carsten, Weber, Bernhard H. F., Renner, Agnes B. und Kellner, Ulrich (2020) Clinical Heterogeneity in Autosomal Recessive Bestrophinopathy with Biallelic Mutations in the BEST1 Gene. International Journal of Molecular Sciences 21 (24), S. 9353. Volltext nicht vorhanden.

Nasser, Fadi, Kempf, Melanie, Kurtenbach, Anne, Stöhr, Heidi, Weber, Bernhard H. F., Neuhaus, Christine, Rating, Philipp und Zrenner, Eberhart (2020) Correlating Adaptive Optics Images to Clinical Findings in Juvenile Macular Dystrophy with Hypotrichosis in Siblings with Homozygous <b><i>CDH3</i></b> Pathogenic Variation. Ophthalmic Research 63 (2), S. 141-151. Volltext nicht vorhanden.

Brock, Stefanie

, Vanderhasselt, Tim

, Vermaning, Sietske, Keymolen, Kathelijn

, Régal, Luc

, Romaniello, Romina

, Wieczorek, Dagmar

, Storm, Tim Matthias, Schaeferhoff, Karin, Hehr, Ute, Kuechler, Alma, Krägeloh-Mann, Ingeborg, Haack, Tobias B., Kasteleijn, Esmee, Schot, Rachel, Mancini, Grazia Maria Simonetta, Webster, Richard, Mohammad, Shekeeb

, Leventer, Richard J., Mirzaa, Ghayda, Dobyns, William B.

, Bahi-Buisson, Nadia, Meuwissen, Marije, Jansen, Anna C.

und Stouffs, Katrien

(2020) Defining the phenotypical spectrum associated with variants in TUBB2A. Journal of Medical Genetics 58 (1), S. 33-40. Volltext nicht vorhanden.

Paul, Luisa, Rupprich, Katrin, Della Marina, Adela, Stein, Anja, Elgizouli, Magdeldin, Kaiser, Frank J., Schweiger, Bernd, Köninger, Angela, Iannaccone, Antonella, Hehr, Ute, Kölbel, Heike, Roos, Andreas, Schara-Schmidt, Ulrike und Kuechler, Alma (2020) Further evidence for POMK as candidate gene for WWS with meningoencephalocele. Orphanet Journal of Rare Diseases 15 (1). Volltext nicht vorhanden.

Grassmann, Felix

, Weber, Bernhard H. F. und Veitia, Reiner A. (2020) Insights into the loss of the Y chromosome with age in control individuals and in patients with age-related macular degeneration using genotyping microarray data. Human Genetics 139 (3), S. 401-407. Volltext nicht vorhanden.

Oegema, Renske

, Barakat, Tahsin Stefan

, Wilke, Martina, Stouffs, Katrien

, Amrom, Dina, Aronica, Eleonora, Bahi-Buisson, Nadia, Conti, Valerio

, Fry, Andrew E.

, Geis, Tobias, Andres, David Gomez, Parrini, Elena, Pogledic, Ivana

, Said, Edith, Soler, Doriette, Valor, Luis M., Zaki, Maha S.

, Mirzaa, Ghayda, Dobyns, William B., Reiner, Orly, Guerrini, Renzo

, Pilz, Daniela T., Hehr, Ute, Leventer, Richard J., Jansen, Anna C.

, Mancini, Grazia M. S. und Di Donato, Nataliya

(2020) International consensus recommendations on the diagnostic work-up for malformations of cortical development. Nature Reviews Neurology 16 (11), S. 618-635. Volltext nicht vorhanden.

Nachtigal, Anna-Lena, Milenkovic, Andrea, Brandl, Caroline

, Schulz, Heidi L., Duerr, Lisa M. J., Lang, Gabriele E., Reiff, Charlotte, Herrmann, Philipp, Kellner, Ulrich und Weber, Bernhard H. F.

(2020) Mutation-Dependent Pathomechanisms Determine the Phenotype in the Bestrophinopathies. International Journal of Molecular Sciences 21 (5), S. 1597. Volltext nicht vorhanden.

Milenkovic, Andrea, Brandl, Caroline, Nachtigal, Anna-Lena, Kellner, Ulrich und Weber, Bernhard H. F. (2020) Mutationsabhängige Mechanismen und deren Bedeutung für zielgerichtete Behandlungsstrategien am Beispiel von Bestrophin 1 und den Bestrophinopathien. Klinische Monatsblätter für Augenheilkunde 237 (03), S. 259-266. Volltext nicht vorhanden.

Borde, Julika

, Ernst, Corinna

, Wappenschmidt, Barbara, Niederacher, Dieter, Weber-Lassalle, Konstantin, Schmidt, Gunnar, Hauke, Jan

, Quante, Anne S

, Weber-Lassalle, Nana, Horváth, Judit, Pohl-Rescigno, Esther, Arnold, Norbert

, Rump, Andreas

, Gehrig, Andrea, Hentschel, Julia, Faust, Ulrike, Dutrannoy, Véronique, Meindl, Alfons, Kuzyakova, Maria, Wang-Gohrke, Shan, Weber, Bernhard H. F, Sutter, Christian, Volk, Alexander E, Giannakopoulou, Olga, Lee, Andrew, Engel, Christoph

, Schmidt, Marjanka K, Antoniou, Antonis C, Schmutzler, Rita K, Kuchenbaecker, Karoline und Hahnen, Eric (2020) Performance of Breast Cancer Polygenic Risk Scores in 760 FemaleCHEK2Germline Mutation Carriers. JNCI: Journal of the National Cancer Institute 113 (7), S. 893-899. Volltext nicht vorhanden.

Khan, Mubeen, Cornelis, Stéphanie S., Pozo-Valero, Marta Del, Whelan, Laura, Runhart, Esmee H., Mishra, Ketan

, Bults, Femke, AlSwaiti, Yahya, AlTalbishi, Alaa, De Baere, Elfride, Banfi, Sandro, Banin, Eyal, Bauwens, Miriam, Ben-Yosef, Tamar, Boon, Camiel J. F., van den Born, L. Ingeborgh, Defoort, Sabine, Devos, Aurore, Dockery, Adrian

, Dudakova, Lubica

, Fakin, Ana, Farrar, G. Jane, Sallum, Juliana Maria Ferraz, Fujinami, Kaoru, Gilissen, Christian

, Glavač, Damjan, Gorin, Michael B., Greenberg, Jacquie, Hayashi, Takaaki, Hettinga, Ymkje M., Hoischen, Alexander

, Hoyng, Carel B., Hufendiek, Karsten, Jägle, Herbert, Kamakari, Smaragda, Karali, Marianthi, Kellner, Ulrich, Klaver, Caroline C. W., Kousal, Bohdan

, Lamey, Tina M., MacDonald, Ian M., Matynia, Anna, McLaren, Terri L., Mena, Marcela D.

, Meunier, Isabelle, Miller, Rianne, Newman, Hadas, Ntozini, Buhle, Oldak, Monika

, Pieterse, Marc, Podhajcer, Osvaldo L., Puech, Bernard, Ramesar, Raj, Rüther, Klaus, Salameh, Manar, Salles, Mariana Vallim, Sharon, Dror, Simonelli, Francesca, Spital, Georg, Steehouwer, Marloes, Szaflik, Jacek P., Thompson, Jennifer A., Thuillier, Caroline, Tracewska, Anna M.

, van Zweeden, Martine, Vincent, Andrea L., Zanlonghi, Xavier, Liskova, Petra

, Stöhr, Heidi, Roach, John N. De, Ayuso, Carmen, Roberts, Lisa

, Weber, Bernhard H. F., Dhaenens, Claire‐Marie und Cremers, Frans P. M. (2020) Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics. Genetics in Medicine 22 (7), S. 1235-1246. Volltext nicht vorhanden.

Wolk, Alyson

, Hatipoglu, Dilara

, Cutler, Alecia, Ali, Mariya, Bell, Lestella, Hua Qi, Jian, Singh, Rupesh

, Batoki, Julia, Karle, Laura, Bonilha, Vera L.

, Wessely, Oliver, Stoehr, Heidi, Hascall, Vincent und Anand-Apte, Bela

(2020) Role of FGF and Hyaluronan in Choroidal Neovascularization in Sorsby Fundus Dystrophy. Cells 9 (3), S. 608. Volltext nicht vorhanden.

Wolk, Alyson, Upadhyay, Mala, Ali, Mariya, Suh, Jason, Stoehr, Heidi, Bonilha, Vera L. und Anand-Apte, Bela (2020) The retinal pigment epithelium in Sorsby Fundus Dystrophy shows increased sensitivity to oxidative stress-induced degeneration. Redox Biology 37, S. 101681. Volltext nicht vorhanden.

Dadak, Mete, Pul, Refik, Lanfermann, Heinrich, Hartmann, Hans, Hehr, Ute, Donnerstag, Frank, Michels, Dirk und Tryc, Anita Blanka (2020) Varying Patterns of CNS Imaging in Influenza A Encephalopathy in Childhood. Clinical Neuroradiology 30 (2), S. 243-249. Volltext nicht vorhanden.

Ramchandran, Ramani, Plössl, Karolina

, Straub, Kristina, Schmid, Verena, Strunz, Franziska, Wild, Jens

, Merkl, Rainer, Weber, Bernhard H. F. und Friedrich, Ulrike

(2019) Identification of the retinoschisin-binding site on the retinal Na/K-ATPase. PLOS ONE 14 (5), e0216320.

Khan, Mubeen, Cornelis, Stéphanie S., Khan, Muhammad Imran, Elmelik, Duaa, Manders, Eline, Bakker, Sem, Derks, Ronny, Neveling, Kornelia, Vorst, Maartje, Gilissen, Christian, Meunier, Isabelle, Defoort, Sabine, Puech, Bernard, Devos, Aurore, Schulz, Heidi L., Stöhr, Heidi, Grassmann, Felix

, Weber, Bernhard H. F., Dhaenens, Claire‐Marie und Cremers, Frans P. M. (2019) Cost‐effective molecular inversion probe‐based ABCA4 sequencing reveals deep‐intronic variants in Stargardt disease. Human Mutation 40 (10), S. 1749-1759. Volltext nicht vorhanden.

Parsons, Michael T., Tudini, Emma, Li, Hongyan, Hahnen, Eric, Wappenschmidt, Barbara, Feliubadaló, Lidia

, Aalfs, Cora M., Agata, Simona, Aittomäki, Kristiina, Alducci, Elisa, Alonso‐Cerezo, María Concepción, Arnold, Norbert

, Auber, Bernd, Austin, Rachel, Azzollini, Jacopo, Balmaña, Judith

, Barbieri, Elena, Bartram, Claus R., Blanco, Ana, Blümcke, Britta, Bonache, Sandra, Bonanni, Bernardo, Borg, Åke, Bortesi, Beatrice, Brunet, Joan

, Bruzzone, Carla, Bucksch, Karolin, Cagnoli, Giulia, Caldés, Trinidad, Caliebe, Almuth

, Caligo, Maria A., Calvello, Mariarosaria, Capone, Gabriele L., Caputo, Sandrine M.

, Carnevali, Ileana, Carrasco, Estela, Caux‐Moncoutier, Virginie, Cavalli, Pietro, Cini, Giulia

, Clarke, Edward M., Concolino, Paola, Cops, Elisa J., Cortesi, Laura, Couch, Fergus J., Darder, Esther, Hoya, Miguel, Dean, Michael, Debatin, Irmgard, Del Valle, Jesús, Delnatte, Capucine, Derive, Nicolas, Diez, Orland, Ditsch, Nina, Domchek, Susan M., Dutrannoy, Véronique, Eccles, Diana M., Ehrencrona, Hans

, Enders, Ute, Evans, D. Gareth

, Farra, Chantal, Faust, Ulrike, Felbor, Ute, Feroce, Irene, Fine, Miriam, Foulkes, William D., Galvao, Henrique C. R., Gambino, Gaetana, Gehrig, Andrea, Gensini, Francesca, Gerdes, Anne‐Marie, Germani, Aldo, Giesecke, Jutta, Gismondi, Viviana, Gómez, Carolina, Garcia, Encarna B., González, Sara, Grau, Elia, Grill, Sabine, Gross, Eva, Guerrieri‐Gonzaga, Aliana, Guillaud‐Bataille, Marine, Gutiérrez‐Enríquez, Sara, Haaf, Thomas, Hackmann, Karl, Hansen, Thomas V. O.

, Harris, Marion, Hauke, Jan, Heinrich, Tilman, Hellebrand, Heide, Herold, Karen N., Honisch, Ellen, Horvath, Judit, Houdayer, Claude, Hübbel, Verena, Iglesias, Silvia, Izquierdo, Angel, James, Paul A., Janssen, Linda A. M., Jeschke, Udo, Kaulfuß, Silke, Keupp, Katharina, Kiechle, Marion, Kölbl, Alexandra, Krieger, Sophie, Kruse, Torben A., Kvist, Anders, Lalloo, Fiona, Larsen, Mirjam, Lattimore, Vanessa L., Lautrup, Charlotte, Ledig, Susanne, Leinert, Elena, Lewis, Alexandra L., Lim, Joanna, Loeffler, Markus, López‐Fernández, Adrià, Lucci‐Cordisco, Emanuela, Maass, Nicolai, Manoukian, Siranoush, Marabelli, Monica, Matricardi, Laura

, Meindl, Alfons, Michelli, Rodrigo D., Moghadasi, Setareh, Moles‐Fernández, Alejandro, Montagna, Marco, Montalban, Gemma, Monteiro, Alvaro N., Montes, Eva, Mori, Luigi, Moserle, Lidia, Müller, Clemens R., Mundhenke, Christoph, Naldi, Nadia, Nathanson, Katherine L., Navarro, Matilde, Nevanlinna, Heli, Nichols, Cassandra B., Niederacher, Dieter, Nielsen, Henriette R., Ong, Kai‐ren, Pachter, Nicholas, Palmero, Edenir I.

, Papi, Laura, Pedersen, Inge Sokilde, Peissel, Bernard, Perez‐Segura, Pedro, Pfeifer, Katharina, Pineda, Marta, Pohl‐Rescigno, Esther, Poplawski, Nicola K., Porfirio, Berardino, Quante, Anne S., Ramser, Juliane, Reis, Rui M.

, Revillion, Françoise, Rhiem, Kerstin, Riboli, Barbara, Ritter, Julia, Rivera, Daniela

, Rofes, Paula, Rump, Andreas, Salinas, Monica, Sánchez de Abajo, Ana María, Schmidt, Gunnar, Schoenwiese, Ulrike, Seggewiß, Jochen, Solanes, Ares, Steinemann, Doris, Stiller, Mathias, Stoppa‐Lyonnet, Dominique, Sullivan, Kelly J., Susman, Rachel, Sutter, Christian, Tavtigian, Sean V., Teo, Soo H., Teulé, Alex, Thomassen, Mads, Tibiletti, Maria Grazia, Tischkowitz, Marc, Tognazzo, Silvia

, Toland, Amanda E., Tornero, Eva, Törngren, Therese, Torres‐Esquius, Sara, Toss, Angela, Trainer, Alison H., Tucker, Katherine M., Asperen, Christi J., Mackelenbergh, Marion T., Varesco, Liliana

, Vargas‐Parra, Gardenia, Varon, Raymonda, Vega, Ana, Velasco, Ángela, Vesper, Anne‐Sophie, Viel, Alessandra

, Vreeswijk, Maaike P. G.

, Wagner, Sebastian A., Waha, Anke, Walker, Logan C., Walters, Rhiannon J., Wang‐Gohrke, Shan, Weber, Bernhard H. F., Weichert, Wilko, Wieland, Kerstin, Wiesmüller, Lisa, Witzel, Isabell, Wöckel, Achim, Woodward, Emma R., Zachariae, Silke, Zampiga, Valentina, Zeder‐Göß, Christine, Investigators, KConFab, Lázaro, Conxi

, Nicolo, Arcangela

, Radice, Paolo

, Engel, Christoph, Schmutzler, Rita K., Goldgar, David E. und Spurdle, Amanda B. (2019) Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification. Human Mutation 40 (9), S. 1557-1578. Volltext nicht vorhanden.

Grassmann, Felix

, Harsch, Sebastian, Brandl, Caroline

, Kiel, Christina, Nürnberg, Peter, Toliat, Mohammad R., Fleckenstein, Monika, Pfau, Maximilian, Schmitz-Valckenberg, Steffen, Holz, Frank G., Chew, Emily Y., Swaroop, Anand, Ratnapriya, Rinki

, Klein, Michael L., Mulyukov, Zufar, Zamiri, Parisa und Weber, Bernhard H. F. (2019) Assessment of Novel Genome-Wide Significant Gene Loci and Lesion Growth in Geographic Atrophy Secondary to Age-Related Macular Degeneration. JAMA Ophthalmology 137 (8), S. 867. Volltext nicht vorhanden.

Geis, Tobias, Rödl, Tanja, Topaloğlu, Haluk, Balci-Hayta, Burcu, Hinreiner, Sophie, Müller-Felber, Wolfgang, Schoser, Benedikt, Mehraein, Yasmin, Hübner, Angela, Zirn, Birgit, Hoopmann, Markus, Reutter, Heiko, Mowat, David, Schuierer, Gerhard, Schara, Ulrike, Hehr, Ute und Kölbel, Heike (2019) Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders. Orphanet Journal of Rare Diseases 14 (1). Volltext nicht vorhanden.

Sangermano, Riccardo

, Garanto, Alejandro

, Khan, Mubeen, Runhart, Esmee H., Bauwens, Miriam, Bax, Nathalie M., van den Born, L. Ingeborgh, Khan, Muhammad Imran, Cornelis, Stéphanie S., Verheij, Joke B. G. M., Pott, Jan-Willem R., Thiadens, Alberta A. H. J., Klaver, Caroline C. W., Puech, Bernard, Meunier, Isabelle, Naessens, Sarah, Arno, Gavin, Fakin, Ana, Carss, Keren J., Raymond, F. Lucy, Webster, Andrew R., Dhaenens, Claire-Marie, Stöhr, Heidi, Grassmann, Felix

, Weber, Bernhard H. F., Hoyng, Carel B., De Baere, Elfride, Albert, Silvia

, Collin, Rob W. J. und Cremers, Frans P. M. (2019) Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides. Genetics in Medicine 21 (8), S. 1751-1760. Volltext nicht vorhanden.

Hoffmann, Anna-Carin, Minakaki, Georgia

, Menges, Stefanie, Salvi, Rachele, Savitskiy, Sergey, Kazman, Aida, Vicente Miranda, Hugo

, Mielenz, Dirk, Klucken, Jochen, Winkler, Jürgen und Xiang, Wei (2019) Extracellular aggregated alpha synuclein primarily triggers lysosomal dysfunction in neural cells prevented by trehalose. Scientific Reports 9 (1). Volltext nicht vorhanden.

Ferreira, Manuel A., Gamazon, Eric R.

, Al-Ejeh, Fares

, Aittomäki, Kristiina, Andrulis, Irene L., Anton-Culver, Hoda, Arason, Adalgeir, Arndt, Volker

, Aronson, Kristan J., Arun, Banu K., Asseryanis, Ella, Azzollini, Jacopo, Balmaña, Judith

, Barnes, Daniel R., Barrowdale, Daniel, Beckmann, Matthias W., Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Białkowska, Katarzyna, Blomqvist, Carl

, Bogdanova, Natalia V., Bojesen, Stig E., Bolla, Manjeet K., Borg, Ake, Brauch, Hiltrud, Brenner, Hermann, Broeks, Annegien, Burwinkel, Barbara, Caldés, Trinidad, Caligo, Maria A., Campa, Daniele, Campbell, Ian, Canzian, Federico

, Carter, Jonathan

, Carter, Brian D.

, Castelao, Jose E., Chang-Claude, Jenny, Chanock, Stephen J., Christiansen, Hans, Chung, Wendy K., Claes, Kathleen B. M., Clarke, Christine L., Couch, Fergus J., Cox, Angela

, Cross, Simon S., Czene, Kamila, Daly, Mary B., de la Hoya, Miguel, Dennis, Joe, Devilee, Peter, Diez, Orland, Dörk, Thilo, Dunning, Alison M., Dwek, Miriam, Eccles, Diana M., Ejlertsen, Bent, Ellberg, Carolina

, Engel, Christoph

, Eriksson, Mikael, Fasching, Peter A., Fletcher, Olivia, Flyger, Henrik, Friedman, Eitan, Frost, Debra, Gabrielson, Marike, Gago-Dominguez, Manuela, Ganz, Patricia A., Gapstur, Susan M., Garber, Judy, García-Closas, Montserrat, García-Sáenz, José A., Gaudet, Mia M., Giles, Graham G., Glendon, Gord, Godwin, Andrew K., Goldberg, Mark S., Goldgar, David E., González-Neira, Anna, Greene, Mark H., Gronwald, Jacek, Guénel, Pascal

, Haiman, Christopher A., Hall, Per, Hamann, Ute, He, Wei

, Heyworth, Jane

, Hogervorst, Frans B. L., Hollestelle, Antoinette, Hoover, Robert N., Hopper, John L., Hulick, Peter J.

, Humphreys, Keith, Imyanitov, Evgeny N., Isaacs, Claudine, Jakimovska, Milena, Jakubowska, Anna

, James, Paul A., Janavicius, Ramunas, Jankowitz, Rachel C., John, Esther M., Johnson, Nichola, Joseph, Vijai

, Karlan, Beth Y., Khusnutdinova, Elza, Kiiski, Johanna I., Ko, Yon-Dschun, Jones, Michael E., Konstantopoulou, Irene

, Kristensen, Vessela N., Laitman, Yael, Lambrechts, Diether, Lazaro, Conxi, Leslie, Goska, Lester, Jenny, Lesueur, Fabienne, Lindström, Sara, Long, Jirong

, Loud, Jennifer T., Lubiński, Jan, Makalic, Enes, Mannermaa, Arto, Manoochehri, Mehdi, Margolin, Sara, Maurer, Tabea, Mavroudis, Dimitrios, McGuffog, Lesley, Meindl, Alfons, Menon, Usha

, Michailidou, Kyriaki, Miller, Austin, Montagna, Marco, Moreno, Fernando

, Moserle, Lidia

, Mulligan, Anna Marie, Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Nevelsteen, Ines, Nielsen, Finn C., Nikitina-Zake, Liene, Nussbaum, Robert L., Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I., Olsson, Håkan

, Osorio, Ana

, Papp, Janos, Park-Simon, Tjoung-Won, Parsons, Michael T., Pedersen, Inge Sokilde, Peixoto, Ana, Peterlongo, Paolo, Pharoah, Paul D. P.

, Plaseska-Karanfilska, Dijana, Poppe, Bruce, Presneau, Nadege, Radice, Paolo

, Rantala, Johanna, Rennert, Gad, Risch, Harvey A., Saloustros, Emmanouil

, Sanden, Kristin, Sawyer, Elinor J., Schmidt, Marjanka K., Schmutzler, Rita K., Sharma, Priyanka, Shu, Xiao-Ou, Simard, Jacques, Singer, Christian F., Soucy, Penny, Southey, Melissa C., Spinelli, John J., Spurdle, Amanda B., Stone, Jennifer

, Swerdlow, Anthony J., Tapper, William J., Taylor, Jack A., Teixeira, Manuel R.

, Terry, Mary Beth, Teulé, Alex, Thomassen, Mads, Thöne, Kathrin, Thull, Darcy L., Tischkowitz, Marc, Toland, Amanda E., Torres, Diana, Truong, Thérèse, Tung, Nadine, Vachon, Celine M., van Asperen, Christi J., van den Ouweland, Ans M. W., van Rensburg, Elizabeth J.

, Vega, Ana, Viel, Alessandra

, Wang, Qin, Wappenschmidt, Barbara, Weitzel, Jeffrey N., Wendt, Camilla, Winqvist, Robert, Yang, Xiaohong R., Yannoukakos, Drakoulis, Ziogas, Argyrios, Kraft, Peter

, Antoniou, Antonis C., Zheng, Wei, Easton, Douglas F., Milne, Roger L., Beesley, Jonathan, Chenevix-Trench, Georgia, make_name_string expected hash reference

, make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference

Sepahi, Ilnaz, Faust, Ulrike, Sturm, Marc, Bosse, Kristin, Kehrer, Martin, Heinrich, Tilman, Grundman-Hauser, Kathrin, Bauer, Peter, Ossowski, Stephan, Susak, Hana

, Varon, Raymonda, Schröck, Evelin, Niederacher, Dieter, Auber, Bernd, Sutter, Christian, Arnold, Norbert

, Hahnen, Eric, Dworniczak, Bernd, Wang-Gorke, Shan, Gehrig, Andrea, Weber, Bernhard H. F., Engel, Christoph

, Lemke, Johannes R., Hartkopf, Andreas, Nguyen, Huu Phuc, Riess, Olaf und Schroeder, Christopher (2019) Investigating the effects of additional truncating variants in DNA-repair genes on breast cancer risk in BRCA1-positive women. BMC Cancer 19 (1). Volltext nicht vorhanden.

Waksmunski, Andrea R., Grunin, Michelle, Kinzy, Tyler G., Igo, Robert P., Haines, Jonathan L. und Cooke Bailey, Jessica N. (2019) Pathway Analysis Integrating Genome-Wide and Functional Data Identifies PLCG2 as a Candidate Gene for Age-Related Macular Degeneration. Investigative Opthalmology & Visual Science 60 (12), S. 4041. Volltext nicht vorhanden.

Hehr, Andreas, Paulmann, Bernd, Gassner, Claudia, Krauß-Dreher, Susann, Seifert, Bernd und Hehr, Ute (2019) Präimplantationsdiagnostik für monogene Erkrankungen am PID-Zentrum Regensburg. medizinische genetik 31 (3), S. 266-274. Volltext nicht vorhanden.

Brandl, Caroline

, Brücklmayer, Christiane, Günther, Felix, Zimmermann, Martina E.

, Küchenhoff, Helmut, Helbig, Horst, Weber, Bernhard H. F., Heid, Iris M. und Stark, Klaus J. (2019) Retinal Layer Thicknesses in Early Age-Related Macular Degeneration: Results From the German AugUR Study. Investigative Opthalmology & Visual Science 60 (5), S. 1581. Volltext nicht vorhanden.

Qi, Jian Hua, Bell, Brent, Singh, Rupesh

, Batoki, Julia, Wolk, Alyson

, Cutler, Alecia, Prayson, Nicholas, Ali, Mariya, Stoehr, Heidi und Anand-Apte, Bela

(2019) Sorsby Fundus Dystrophy Mutation in Tissue Inhibitor of Metalloproteinase 3 (TIMP3) promotes Choroidal Neovascularization via a Fibroblast Growth Factor-dependent Mechanism. Scientific Reports 9 (1). Volltext nicht vorhanden.

Rating, P., Stöhr, H., Neuhaus, C., Schaperdoth-Gerlings, B., Böhm, M. R. R., Freimuth, M.‑A. und Bechrakis, N. E. (2019) Stufendiagnostik einer CSNB1 mit NYX-Genmutation. Der Ophthalmologe 116 (12), S. 1207-1211. Volltext nicht vorhanden.

Milenkovic, Andrea, Schmied, Denise, Tanimoto, Naoyuki, Seeliger, Mathias W., Sparrow, Janet R. und Weber, Bernhard H. F. (2019) The Y227N mutation affects bestrophin-1 protein stability and impairs sperm function in a mouse model of Best vitelliform macular dystrophy. Biology Open. Volltext nicht vorhanden.

Mages, Kristin, Grassmann, Felix

, Jägle, Herbert, Rupprecht, Rainer, Weber, Bernhard H. F., Hauck, Stefanie M.

und Grosche, Antje

(2019) The agonistic TSPO ligand XBD173 attenuates the glial response thereby protecting inner retinal neurons in a murine model of retinal ischemia. Journal of Neuroinflammation 16 (1). Volltext nicht vorhanden.

Hebebrand, Moritz, Hüffmeier, Ulrike, Trollmann, Regina, Hehr, Ute, Uebe, Steffen, Ekici, Arif B.

, Kraus, Cornelia, Krumbiegel, Mandy, Reis, André

, Thiel, Christian T.

und Popp, Bernt

(2019) The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy. Orphanet Journal of Rare Diseases 14 (1). Volltext nicht vorhanden.

Grassmann, Felix

, Kiel, Christina, den Hollander, Anneke I., Weeks, Daniel E.

, Lotery, Andrew

, Cipriani, Valentina und Weber, Bernhard H. F. (2019) Y chromosome mosaicism is associated with age-related macular degeneration. European Journal of Human Genetics 27 (1), S. 36-41. Volltext nicht vorhanden.

Pujol-Lereis, Luciana M., Liebisch, Gerhard

, Schick, Tina, Lin, Yuchen, Grassmann, Felix

, Uchida, Koji, Zipfel, Peter F., Fauser, Sascha, Skerka, Christine und Weber, Bernhard H. F. (2018) Evaluation of serum sphingolipids and the influence of genetic risk factors in age-related macular degeneration. PLOS ONE 13 (8), e0200739.

Grassmann, Felix

, Mengelkamp, Judith, Brandl, Caroline

, Harsch, Sebastian, Zimmermann, Martina E.

, Linkohr, Birgit

, Peters, Annette, Heid, Iris M., Palm, Christoph

und Weber, Bernhard H. F. (2018) A Deep Learning Algorithm for Prediction of Age-Related Eye Disease Study Severity Scale for Age-Related Macular Degeneration from Color Fundus Photography. Ophthalmology 125 (9), S. 1410-1420. Volltext nicht vorhanden.

Strunz, Tobias, Grassmann, Felix

, Gayán, Javier, Nahkuri, Satu, Souza-Costa, Debora, Maugeais, Cyrille, Fauser, Sascha, Nogoceke, Everson und Weber, Bernhard H. F. (2018) A mega-analysis of expression quantitative trait loci (eQTL) provides insight into the regulatory architecture of gene expression variation in liver. Scientific Reports 8 (1). Volltext nicht vorhanden.

Milenkovic, Andrea, Milenkovic, Vladimir M., Wetzel, Christian H.

und Weber, Bernhard H. F.

(2018) BEST1 protein stability and degradation pathways differ between autosomal dominant Best disease and autosomal recessive bestrophinopathy accounting for the distinct retinal phenotypes. Human Molecular Genetics 27 (9), S. 1630-1641. Volltext nicht vorhanden.

Müller, Philipp L., Pfau, Maximilian

, Möller, Philipp T., Nadal, Jennifer, Schmid, Matthias

, Lindner, Moritz

, de Sisternes, Luis, Stöhr, Heidi, Weber, Bernhard H. F., Neuhaus, Christine, Herrmann, Philipp, Schmitz-Valckenberg, Steffen, Holz, Frank G. und Fleckenstein, Monika (2018) Choroidal Flow Signal in Late-Onset Stargardt Disease and Age-Related Macular Degeneration: An OCT-Angiography Study. Investigative Opthalmology & Visual Science 59 (4), AMD122. Volltext nicht vorhanden.

Garces, Fabian, Jiang, Kailun, Molday, Laurie L., Stöhr, Heidi, Weber, Bernhard H., Lyons, Christopher J., Maberley, David und Molday, Robert S. (2018) Correlating the Expression and Functional Activity of ABCA4 Disease Variants With the Phenotype of Patients With Stargardt Disease. Investigative Opthalmology & Visual Science 59 (6), S. 2305. Volltext nicht vorhanden.

Elbracht, Miriam, Kraft, Florian, Begemann, Matthias, Holschbach, Petra, Mull, Michael, Kabat, Ildiko M., Müller, Britta, Häusler, Martin, Kurth, Ingo

und Hehr, Ute (2018) Familial NEDD4L variant in periventricular nodular heterotopia and in a fetus with hypokinesia and flexion contractures. Molecular Genetics & Genomic Medicine 6 (6), S. 1255-1260. Volltext nicht vorhanden.

Dittrich, Ralf, Kliesch, Sabine, Schüring, Andreas, Balcerek, Magdalena, Baston-Büst, Dunja, Beck, Ramona, Beckmann, Matthias, Behringer, Karolin, Borgmann-Staudt, Anja, Cremer, Wolfgang, Denzer, Christian, Diemer, Thorsten, Dorn, Almut, Fehm, Tanja, Gaase, Rüdiger, Germeyer, Ariane, Geue, Kristina, Ghadjar, Pirus, Goeckenjan, Maren, Götte, Martin, Guth, Dagmar, Hauffa, Berthold, Hehr, Ute, Hetzer, Franc, Hirchenhain, Jens, Hoffmann, Wilfried, Hornemann, Beate, Jantke, Andreas, Kentenich, Heribert, Kiesel, Ludwig, Köhn, Frank-Michael, Korell, Matthias, Lax, Sigurd, Liebenthron, Jana, Lux, Michael, Meißner, Julia, Micke, Oliver, Nassar, Najib

, Nawroth, Frank, Nordhoff, Verena

, Ochsendorf, Falk, Oppelt, Patricia, Pelz, Jörg, Rau, Beate, Reisch, Nicole, Riesenbeck, Dorothea, Schlatt, Stefan, Sender, Annekathrin, Schwab, Roxana, Siedentopf, Friederike, Thorn, Petra, Wagner, Steffen, Wildt, Ludwig, Wimberger, Pauline, Wischmann, Tewes, von Wolff, Michael und Lotz, Laura (2018) Fertility Preservation for Patients with Malignant Disease. Guideline of the DGGG, DGU and DGRM (S2k-Level, AWMF Registry No. 015/082, November 2017) – Recommendations and Statements for Girls and Women. Geburtshilfe und Frauenheilkunde 78 (06), S. 567-584. Volltext nicht vorhanden.

Hinreiner, Sophie, Wieczorek, Dagmar, Mueller, Dietmar, Roedl, Tanja, Thiel, Gundula, Grasshoff, Ute, Chaoui, Rabih und Hehr, Ute (2018) Further evidence for complex inheritance of holoprosencephaly: Lessons learned from pre‐ and postnatal diagnostic testing in Germany. American Journal of Medical Genetics Part C: Seminars in Medical Genetics 178 (2), S. 198-205. Volltext nicht vorhanden.

Hauke, Jan, Horvath, Judit, Groß, Eva, Gehrig, Andrea, Honisch, Ellen, Hackmann, Karl, Schmidt, Gunnar, Arnold, Norbert

, Faust, Ulrike, Sutter, Christian, Hentschel, Julia, Wang-Gohrke, Shan, Smogavec, Mateja, Weber, Bernhard H. F., Weber-Lassalle, Nana, Weber-Lassalle, Konstantin, Borde, Julika, Ernst, Corinna, Altmüller, Janine, Volk, Alexander E., Thiele, Holger, Hübbel, Verena, Nürnberg, Peter, Keupp, Katharina, Versmold, Beatrix, Pohl, Esther, Kubisch, Christian

, Grill, Sabine, Paul, Victoria, Herold, Natalie, Lichey, Nadine, Rhiem, Kerstin, Ditsch, Nina, Ruckert, Christian

, Wappenschmidt, Barbara, Auber, Bernd, Rump, Andreas, Niederacher, Dieter, Haaf, Thomas, Ramser, Juliane, Dworniczak, Bernd, Engel, Christoph

, Meindl, Alfons, Schmutzler, Rita K. und Hahnen, Eric (2018) Gene panel testing of 5589 BRCA1/2 -negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer. Cancer Medicine 7 (4), S. 1349-1358. Volltext nicht vorhanden.

Dannhausen, Katharina, Möhle, Christoph und Langmann, Thomas (2018) Immunomodulation with minocycline rescues retinal degeneration in juvenile Neuronal Ceroid Lipofuscinosis (jNCL) mice highly susceptible to light damage. Disease Models & Mechanisms. Volltext nicht vorhanden.

Rebbeck, Timothy R., Friebel, Tara M.

, Friedman, Eitan, Hamann, Ute, Huo, Dezheng, Kwong, Ava

, Olah, Edith, Olopade, Olufunmilayo I., Solano, Angela R., Teo, Soo-Hwang, Thomassen, Mads, Weitzel, Jeffrey N., Chan, T. L., Couch, Fergus J., Goldgar, David E., Kruse, Torben A., Palmero, Edenir Inêz, Park, Sue Kyung, Torres, Diana, van Rensburg, Elizabeth J., McGuffog, Lesley, Parsons, Michael T., Leslie, Goska, Aalfs, Cora M., Abugattas, Julio, Adlard, Julian, Agata, Simona, Aittomäki, Kristiina, Andrews, Lesley, Andrulis, Irene L., Arason, Adalgeir, Arnold, Norbert

, Arun, Banu K., Asseryanis, Ella, Auerbach, Leo, Azzollini, Jacopo

, Balmaña, Judith, Barile, Monica, Barkardottir, Rosa B., Barrowdale, Daniel, Benitez, Javier, Berger, Andreas, Berger, Raanan, Blanco, Amie M., Blazer, Kathleen R., Blok, Marinus J., Bonadona, Valérie, Bonanni, Bernardo, Bradbury, Angela R., Brewer, Carole, Buecher, Bruno, Buys, Saundra S., Caldés, Trinidad, Caliebe, Almuth

, Caligo, Maria A.

, Campbell, Ian, Caputo, Sandrine M.

, Chiquette, Jocelyne, Chung, Wendy K., Claes, Kathleen B. M.

, Collée, J. Margriet, Cook, Jackie, Davidson, Rosemarie, de la Hoya, Miguel

, De Leeneer, Kim, de Pauw, Antoine, Delnatte, Capucine, Diez, Orland, Ding, Yuan Chun, Ditsch, Nina, Domchek, Susan M., Dorfling, Cecilia M., Velazquez, Carolina, Dworniczak, Bernd, Eason, Jacqueline, Easton, Douglas F., Eeles, Ros

, Ehrencrona, Hans

, Ejlertsen, Bent, Engel, Christoph

, Engert, Stefanie, Evans, D. Gareth

, Faivre, Laurence, Feliubadaló, Lidia

, Ferrer, Sandra Fert, Foretova, Lenka, Fowler, Jeffrey, Frost, Debra, Galvão, Henrique C. R., Ganz, Patricia A., Garber, Judy, Gauthier-Villars, Marion, Gehrig, Andrea, Gerdes, Anne-Marie

, Gesta, Paul, Giannini, Giuseppe

, Giraud, Sophie, Glendon, Gord, Godwin, Andrew K., Greene, Mark H., Gronwald, Jacek, Gutierrez-Barrera, Angelica, Hahnen, Eric, Hauke, Jan, Henderson, Alex, Hentschel, Julia, Hogervorst, Frans B. L., Honisch, Ellen, Imyanitov, Evgeny N., Isaacs, Claudine, Izatt, Louise, Izquierdo, Angel, Jakubowska, Anna

, James, Paul, Janavicius, Ramunas, Jensen, Uffe Birk, John, Esther M., Vijai, Joseph, Kaczmarek, Katarzyna, Karlan, Beth Y., Kast, Karin, Investigators, KConFab, Kim, Sung-Won, Konstantopoulou, Irene, Korach, Jacob, Laitman, Yael, Lasa, Adriana, Lasset, Christine, Lázaro, Conxi, Lee, Annette, Lee, Min Hyuk, Lester, Jenny

, Lesueur, Fabienne, Liljegren, Annelie, Lindor, Noralane M., Longy, Michel, Loud, Jennifer T., Lu, Karen H., Lubinski, Jan, Machackova, Eva, Manoukian, Siranoush, Mari, Véronique, Martínez-Bouzas, Cristina, Matrai, Zoltan, Mebirouk, Noura, Meijers-Heijboer, Hanne E. J., Meindl, Alfons, Mensenkamp, Arjen R., Mickys, Ugnius, Miller, Austin, Montagna, Marco, Moysich, Kirsten B.

, Mulligan, Anna Marie, Musinsky, Jacob, Neuhausen, Susan L., Nevanlinna, Heli, Ngeow, Joanne, Nguyen, Huu Phuc, Niederacher, Dieter, Nielsen, Henriette Roed, Nielsen, Finn Cilius, Nussbaum, Robert L., Offit, Kenneth, Öfverholm, Anna, Ong, Kai-ren

, Osorio, Ana, Papi, Laura, Papp, Janos, Pasini, Barbara, Pedersen, Inge Sokilde, Peixoto, Ana, Peruga, Nina

, Peterlongo, Paolo, Pohl, Esther, Pradhan, Nisha, Prajzendanc, Karolina, Prieur, Fabienne, Pujol, Pascal, Radice, Paolo

, Ramus, Susan J., Rantala, Johanna, Rashid, Muhammad Usman, Rhiem, Kerstin, Robson, Mark, Rodriguez, Gustavo C., Rogers, Mark T., Rudaitis, Vilius, Schmidt, Ane Y., Schmutzler, Rita Katharina, Senter, Leigha, Shah, Payal D., Sharma, Priyanka, Side, Lucy E., Simard, Jacques, Singer, Christian F.

, Skytte, Anne-Bine, Slavin, Thomas P., Snape, Katie, Sobol, Hagay

, Southey, Melissa, Steele, Linda, Steinemann, Doris, Sukiennicki, Grzegorz, Sutter, Christian, Szabo, Csilla I.

, Tan, Yen Y.

, Teixeira, Manuel R., Terry, Mary Beth

, Teulé, Alex, Thomas, Abigail, Thull, Darcy L., Tischkowitz, Marc, Tognazzo, Silvia, Toland, Amanda Ewart

, Topka, Sabine, Trainer, Alison H, Tung, Nadine, van Asperen, Christi J., van der Hout, Annemieke H., van der Kolk, Lizet E.

, van der Luijt, Rob B., Van Heetvelde, Mattias, Varesco, Liliana, Varon-Mateeva, Raymonda, Vega, Ana, Villarreal-Garza, Cynthia, von Wachenfeldt, Anna, Walker, Lisa, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Weber, Bernhard H. F., Yannoukakos, Drakoulis, Yoon, Sook-Yee, Zanzottera, Cristina, Zidan, Jamal, Zorn, Kristin K., Hutten Selkirk, Christina G., Hulick, Peter J., Chenevix-Trench, Georgia

, Spurdle, Amanda B., Antoniou, Antonis C. und Nathanson, Katherine L. (2018) Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. Human Mutation 39 (5), S. 593-620. Volltext nicht vorhanden.

Plössl, Karolina, Schmid, Verena, Straub, Kristina

, Schmid, Carina, Ammon, Mirjam, Merkl, Rainer

, Weber, Bernhard H. F. und Friedrich, Ulrike (2018) Pathomechanism of mutated and secreted retinoschisin in X-linked juvenile retinoschisis. Experimental Eye Research 177, S. 23-34. Volltext nicht vorhanden.

Brandl, Caroline

und Weber, Bernhard (2018) Personalisierte Ophthalmologie – induzierte pluripotente Stammzellen als In-vitro-Modellsysteme für degenerative Netzhauterkrankungen. Klinische Monatsblätter für Augenheilkunde 235 (03), S. 301-308. Volltext nicht vorhanden.

Engel, Christoph

, Rhiem, Kerstin, Hahnen, Eric, Loibl, Sibylle, Weber, Karsten E., Seiler, Sabine, Zachariae, Silke, Hauke, Jan, Wappenschmidt, Barbara, Waha, Anke, Blümcke, Britta, Kiechle, Marion, Meindl, Alfons, Niederacher, Dieter, Bartram, Claus R., Speiser, Dorothee, Schlegelberger, Brigitte, Arnold, Norbert

, Wieacker, Peter, Leinert, Elena, Gehrig, Andrea, Briest, Susanne, Kast, Karin, Riess, Olaf, Emons, Günter, Weber, Bernhard H. F., Engel, Jutta

und Schmutzler, Rita K. (2018) Prevalence of pathogenic BRCA1/2 germline mutations among 802 women with unilateral triple-negative breast cancer without family cancer history. BMC Cancer 18 (1). Volltext nicht vorhanden.

Kaczmarek-Hajek, Karina, Zhang, Jiong

, Kopp, Robin, Grosche, Antje

, Rissiek, Björn

, Saul, Anika, Bruzzone, Santina, Engel, Tobias, Jooss, Tina, Krautloher, Anna, Schuster, Stefanie, Magnus, Tim, Stadelmann, Christine

, Sirko, Swetlana

, Koch-Nolte, Friedrich, Eulenburg, Volker

und Nicke, Annette (2018) Re-evaluation of neuronal P2X7 expression using novel mouse models and a P2X7-specific nanobody. eLife 7. Volltext nicht vorhanden.

Cantsilieris, Stuart, Nelson, Bradley J., Huddleston, John, Baker, Carl, Harshman, Lana, Penewit, Kelsi, Munson, Katherine M.

, Sorensen, Melanie

, Welch, AnneMarie E., Dang, Vy, Grassmann, Felix

, Richardson, Andrea J., Guymer, Robyn H.

, Graves-Lindsay, Tina A., Wilson, Richard K., Weber, Bernhard H. F., Baird, Paul N., Allikmets, Rando und Eichler, Evan E. (2018) Recurrent structural variation, clustered sites of selection, and disease risk for the complement factor H (CFH) gene family. Proceedings of the National Academy of Sciences 115 (19), E4433-E4442. Volltext nicht vorhanden.

Volz, Cornelia, Grassmann, Felix

, Greslechner, Roman, Märker, David Arthur, Peters, Patrick, Helbig, Horst und Gamulescu, Maria-Andreea (2018) Spectral Domain Optical Coherence Tomography Allows the Unification of Clinical Decision Making for the Evaluation of Choroidal Neovascularization Activity. Ophthalmologica 241 (1), S. 32-37. Volltext nicht vorhanden.

Brandl, Caroline

, Schulz, Heidi, Charbel Issa, Peter, Birtel, Johannes, Bergholz, Richard, Lange, Clemens, Dahlke, Claudia, Zobor, Ditta, Weber, Bernhard und Stöhr, Heidi (2017) Mutations in the Genes for Interphotoreceptor Matrix Proteoglycans, IMPG1 and IMPG2, in Patients with Vitelliform Macular Lesions. Genes 8 (170), S. 1-14.

Schäfer, Nicole, Grosche, Antje, Schmitt, Sabrina I., Braunger, Barbara M. und Pauly, Diana (2017) Complement Components Showed a Time-Dependent Local Expression Pattern in Constant and Acute White Light-Induced Photoreceptor Damage. Frontiers in Molecular Neuroscience 10 (197), S. 1-17.

Weber, Bernhard H. F., Grassmann, Felix

, Kiel, Christina, Zimmermann, Martina E., Gorski, Mathias

, Grassmann, Veronika, Stark, Klaus und Heid, Iris M.

(2017) Genetic pleiotropy between age-related macular degeneration and 16 complex diseases and traits. Genome Medicine 9 (29), S. 1-13.

Kanno, Cláudia Misue, Américo de Oliveira, José, Garcia, José Fernando, Roth, Helmut und Weber, Bernhard H. F.

(2017) Twenty-year follow-up of a familial case of PTH1R-associated primary failure of tooth eruption. American Journal of Orthodontics and Dentofacial Orthopedics 151 (3), S. 598-606. Volltext nicht vorhanden.

Grassmann, Felix

, Heid, Iris M. und Weber, Bernhard H. F.

(2017) Recombinant Haplotypes Narrow the ARMS2/HTRA1 Association Signal for Age-Related Macular Degeneration. Genetics 205 (2), S. 919-924.

Micklisch, Sven, Lin, Yuchen, Jacob, Saskia, Karlstetter, Marcus, Dannhausen, Katharina, Dasari, Prasad, von der Heide, Monika, Dahse, Hans-Martin, Schmölz, Lisa, Grassmann, Felix

, Alene, Medhanie, Fauser, Sascha, Neumann, Harald, Lorkowski, Stefan

, Pauly, Diana und Weber, Bernhard H. F.

(2017) Age-related macular degeneration associated polymorphism rs10490924 in ARMS2 results in deficiency of a complement activator. Journal of Neuroinflammation 14 (4).

Berber, Patricia, Grassmann, Felix, Kiel, Christina und Weber, Bernhard H. F.

(2017) An Eye on Age-Related Macular Degeneration: The Role of MicroRNAs in Disease Pathology. Molecular Diagnosis & Therapy 21 (1), S. 31-43.

Kuechler, Alma, Czeschik, Johanna Christina, Graf, Elisabeth, Grasshoff, Ute, Hüffmeier, Ulrike, Busa, Tiffany, Beck-Woedl, Stefanie, Faivre, Laurence, Rivière, Jean-Baptiste, Bader, Ingrid, Koch, Johannes, Reis, André

, Hehr, Ute, Rittinger, Olaf, Sperl, Wolfgang, Haack, Tobias B., Wieland, Thomas, Engels, Hartmut, Prokisch, Holger

, Strom, Tim M., Lüdecke, Hermann-Josef und Wieczorek, Dagmar (2017) Bainbridge–Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition. European Journal of Human Genetics 25 (2), S. 183-191. Volltext nicht vorhanden.

Dammann, Philipp, Wrede, Karsten, Zhu, Yuan, Matsushige, Toshinori, Maderwald, Stefan, Umutlu, Lale, Quick, Harald H., Hehr, Ute, Rath, Matthias, Ladd, Mark E., Felbor, Ute und Sure, Ulrich (2017) Correlation of the venous angioarchitecture of multiple cerebral cavernous malformations with familial or sporadic disease: a susceptibility-weighted imaging study with 7-Tesla MRI. Journal of Neurosurgery 126 (2), S. 570-577. Volltext nicht vorhanden.

Jahic, Amir, Hinreiner, Sophie, Emberger, Werner, Hehr, Ute, Zuchner, Stephan und Beetz, Christian

(2017) Doublet-Mediated DNA Rearrangement-A Novel and Potentially Underestimated Mechanism for the Formation of Recurrent Pathogenic Deletions. Human Mutation 38 (3), S. 275-278. Volltext nicht vorhanden.

Grassmann, Felix und Weber, Bernhard (2017) Genetische Risiken und Therapieentwicklung bei Netzhautdegenerationen. medizinische genetik 29 (2), S. 195-201. Volltext nicht vorhanden.

Bellingrath, Julia-Sophia, Ochakovski, G. Alex, Seitz, Immanuel P., Kohl, Susanne

, Zrenner, Eberhart, Hanig, Nicola, Prokisch, Holger

, Weber, Bernhard H., Downes, Susan M., Ramsden, Simon, MacLaren, Robert E. und Fischer, M. Dominik (2017) High Symmetry of Visual Acuity and Visual Fields in RPGR-Linked Retinitis Pigmentosa. Investigative Opthalmology & Visual Science 58 (11), S. 4457. Volltext nicht vorhanden.

Kellner, Ulrich, Stöhr, Heidi, Weinitz, Silke, Farmand, Ghazaleh und Weber, Bernhard H. F.

(2017) Mevalonate kinase deficiency associated with ataxia and retinitis pigmentosa in two brothers with MVK gene mutations. Ophthalmic Genetics. Volltext nicht vorhanden.

Schulz, H. L., Grassmann, F.

, Kellner, U., Spital, G., Rüther, K., Jägle, H., Hufendiek, K., Rating, P. und Weber, Bernhard H. F.

(2017) Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort-Impact of Selected Deep Intronic Variants and Common SNPs. Investigative Ophthalmology & Visual Science (IOVS) 58, S. 394-403.

Neuhaus, Christine, Eisenberger, Tobias, Decker, Christian, Nagl, Sandra, Blank, Cornelia, Pfister, Markus, Kennerknecht, Ingo, Müller-Hofstede, Cornelie, Charbel Issa, Peter, Heller, Raoul, Beck, Bodo, Rüther, Klaus, Mitter, Diana, Rohrschneider, Klaus, Steinhauer, Ute, Korbmacher, Heike M., Huhle, Dagmar, Elsayed, Solaf M., Taha, Hesham M., Baig, Shahid M., Stöhr, Heidi, Preising, Markus, Markus, Susanne, Moeller, Fabian, Lorenz, Birgit, Nagel-Wolfrum, Kerstin, Khan, Arif O. und Bolz, Hanno J. (2017) Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome. Molecular Genetics & Genomic Medicine 5 (5), S. 531-552. Volltext nicht vorhanden.

Plössl, Karolina, Royer, Melanie, Bernklau, Sarah, Tavraz, Neslihan N., Friedrich, Thomas, Wild, Jens, Weber, Bernhard H. F.

, Friedrich, Ulrike und Heldin, Carl-Henrik (2017) Retinoschisin is linked to retinal Na/K-ATPase signaling and localization. Molecular Biology of the Cell 28 (16), S. 2178-2189. Volltext nicht vorhanden.

Plössl, Karolina, Royer, Melanie, Bernklau, Sarah, Tavraz, Neslihan N., Friedrich, Thomas, Wild, Jens, Weber, Bernhard H. F.

Bose, Tanima (2017) Role of immunological memory cells as a therapeutic target in multiple sclerosis. Brain Sciences 7, S. 148.

Wagner, Lysann, Pannicke, Thomas, Rupprecht, Vanessa, Frommherz, Ina, Volz, Cornelia, Illes, Peter, Hirrlinger, Johannes, Jägle, Herbert, Egger, Veronica, Haydon, Philip G., Pfrieger, Frank W.

und Grosche, Antje (2017) Suppression of SNARE-dependent exocytosis in retinal glial cells and its effect on ischemia-induced neurodegeneration. Glia 65 (7), S. 1059-1071. Volltext nicht vorhanden.

Romaniello, Romina, Arrigoni, Filippo, Panzeri, Elena, Poretti, Andrea, Micalizzi, Alessia

, Citterio, Andrea

, Bedeschi, Maria Francesca, Berardinelli, Angela, Cusmai, Raffaella, D’Arrigo, Stefano, Ferraris, Alessandro, Hackenberg, Annette, Kuechler, Alma, Mancardi, Margherita, Nuovo, Sara

, Oehl-Jaschkowitz, Barbara, Rossi, Andrea

, Signorini, Sabrina, Tüttelmann, Frank, Wahl, Dagmar, Hehr, Ute, Boltshauser, Eugen, Bassi, Maria Teresa, Valente, Enza Maria

und Borgatti, Renato

(2017) Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation. European Radiology 27 (12), S. 5080-5092. Volltext nicht vorhanden.

Brandl, Caroline (2017) Zelltherapie am Augenhintergrund – gestern, heute, morgen. medizinische genetik 29 (2), S. 208-216. Volltext nicht vorhanden.

Friedrich, Ulrike, Plössl, Karolina

und Weber, Bernhard H. F. (2016) The X-linked juvenile retinoschisis protein retinoschisin is a novel regulator of MAP kinase signaling and apoptosis in the retina. Journal of Cellular and Molecular Medicine 2016, S. 1-13.

Schäfer, Nicole, Grosche, Antje

, Reinders, Joerg, Hauck, Stefanie M.

, Pouw, Richard B.

, Kuijpers, Taco W., Wouters, Diana, Ehrenstein, Boris, Enzmann, Volker, Zipfel, Peter F., Skerka, Christine und Pauly, Diana (2016) Complement Regulator FHR-3 Is Elevated either Locally or Systemically in a Selection of Autoimmune Diseases. Frontiers in Immunology 7 (542), S. 1-16.

Brandl, Caroline

, Breinlich, Valentin Andreas, Stark, Klaus J., Enzinger, Sabrina, Aßenmacher, Matthias, Olden, Matthias, Grassmann, Felix

, Graw, Jochen

, Heier, Margit, Peters, Annette

, Helbig, Horst, Küchenhoff, Helmut, Weber, Bernhard H. F.

und Heid, Iris M. (2016) Features of Age-Related Macular Degeneration in the General Adults and Their Dependency on Age, Sex, and Smoking: Results from the German KORA Study. PLoS ONE 11 (11), e0167181.

Weber, Bernhard H. F.

, Grassmann, Felix, Cantsilieris, Stuart, Schulz-Kuhnt, Anja-Sabrina, White, Stefan J., Richardson, Andrea J., Hewitt, Alex W., Vote, Brendan J., Schmied, Denise

, Guymer, Robyn H.

und Baird, Paul N. (2016) Multiallelic copy number variation in the complement component 4A (C4A) gene is associated with late-stage age-related macular degeneration (AMD). Jornal of Neuroinflammation 13 (81), S. 1-9.

Fritsche, L. G.

, Igl, Wilmar, Bailey, J. N., Grassmann, Felix

, Sengupta, Sebanti, Bragg-Gresham, Jennifer L., Burdon, Kathryn P., Hebbring, Scott J., Weber, Bernhard H. F. und Heid, Iris M.

(2016) A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants. Nature Genetics 48, S. 134-143. Volltext nicht vorhanden.

Pujol-Lereis, Luciana Mercedes, Fagali, Natalia Soledad

, Rabossi, Alejandro, Catalá, Ángel und Quesada-Allué, Luis Alberto (2016) Chill-coma recovery time, age and sex determine lipid profiles in Ceratitis capitata tissues. Journal of Insect Physiology 87, S. 53-62. Volltext nicht vorhanden.

Rath, Matthias, Spiegler, Stefanie, Nath, Neetika, Schwefel, Konrad, Di Donato, Nataliya, Gerber, Johannes

, Korenke, G. Christoph, Hellenbroich, Yorck, Hehr, Ute, Gross, Stephanie, Sure, Ulrich, Zoll, Barbara, Gilberg, Eberhard, Kaderali, Lars

und Felbor, Ute (2016) Constitutional de novo and postzygotic mutations in isolated cases of cerebral cavernous malformations. Molecular Genetics & Genomic Medicine 5 (1), S. 21-27. Volltext nicht vorhanden.

Tanimoto, Naoyuki, Akula, James D., Fulton, Anne B., Weber, Bernhard H. F.

und Seeliger, Mathias W. (2016) Differentiation of murine models of “negative ERG” by single and repetitive light stimuli. Documenta Ophthalmologica 132 (2), S. 101-109. Volltext nicht vorhanden.

Fleckenstein, Monika

, Grassmann, Felix

, Lindner, Moritz

, Pfau, Maximilian

, Czauderna, Joanna, Strunz, Tobias, von Strachwitz, Claudia, Schmitz-Valckenberg, Steffen, Holz, Frank G. und Weber, Bernhard H. F.

(2016) Distinct Genetic Risk Profile of the Rapidly Progressing Diffuse-Trickling Subtype of Geographic Atrophy in Age-Related Macular Degeneration (AMD). Investigative Opthalmology & Visual Science 57 (6), S. 2463.

Wagner, Lysann, Pannicke, Thomas, Frommherz, Ina, Sauer, Katja, Chen, Ju und Grosche, Antje

(2016) Effects of IP3R2 Receptor Deletion in the Ischemic Mouse Retina. Neurochemical Research 41 (4), S. 677-686. Volltext nicht vorhanden.

Vogler, Stefanie, Grosche, Antje

, Pannicke, Thomas, Wiedemann, Peter, Reichenbach, Andreas und Bringmann, Andreas (2016) Endothelins Inhibit Osmotic Swelling of Rat Retinal Glial and Bipolar Cells by Activation of Growth Factor Signaling. Neurochemical Research 41 (10), S. 2598-2606. Volltext nicht vorhanden.

Hotz, A., Oji, V.

, Bourrat, E., Jonca, N., Mazereeuw-Hautier, J., Betz, R.

, Blume-Peytavi, U., Stieler, K., Morice-Picard, F., Schönbuchner, I., Markus, S., Schlipf, N. und Fischer, J.

(2016) Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis. Acta Dermato Venereologica 96 (4), S. 473-478. Volltext nicht vorhanden.

Kellner, S., Stöhr, Heidi, Fiebig, B., Weinitz, S., Farmand, G., Kellner, U. und Weber, Bernhard H. F.

(2016) Fundus Autofluorescence and SD-OCT Document Rapid Progression in Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC) Associated with a c.256G > A Mutation in BEST1. Ophthalmic Genetics 37, S. 201-208. Volltext nicht vorhanden.

Günther, Sven, Elert-Dobkowska, Ewelina, Soehn, Anne S., Hinreiner, Sophie, Yoon, Grace, Heller, Raoul, Hellenbroich, Yorck, Hübner, Christian A., Ray, Peter N., Hehr, Ute, Bauer, Peter, Sulek, Anna

und Beetz, Christian

(2016) High Frequency of Pathogenic Rearrangements in SPG11 and Extensive Contribution of Mutational Hotspots and Founder Alleles. Human Mutation 37 (7), S. 703-709. Volltext nicht vorhanden.

Karrasch, Thomas, Herbst, Saskia M., Hehr, Ute, Schmid, Andreas und Schäffler, Andreas (2016) How to Assess the Clinical Relevance of Novel RET Missense Variants in the Absence of Functional Studies? European Thyroid Journal 5 (1), S. 73-77. Volltext nicht vorhanden.

Larsen, Mirjam, Kress, Wolfram, Schoser, Benedikt

, Hehr, Ute, Müller, Clemens R. und Rost, Simone (2016) Identification of variants in MBNL1 in patients with a myotonic dystrophy-like phenotype. European Journal of Human Genetics 24 (10), S. 1467-1472. Volltext nicht vorhanden.

Herbst, Saskia M., Proepper, Christiane R., Geis, Tobias, Borggraefe, Ingo, Hahn, Andreas, Debus, Otfried, Haeussler, Martin, von Gersdorff, Gero, Kurlemann, Gerhard, Ensslen, Matthias, Beaud, Nathalie, Budde, Joerg, Gilbert, Michael, Heiming, Ralf, Morgner, Rita, Philippi, Heike, Ross, Sophia, Strobl-Wildemann, Gertrud, Muelleder, Kerstin, Vosschulte, Paul, Morris-Rosendahl, Deborah J.

, Schuierer, Gerhard und Hehr, Ute (2016) LIS1-associated classic lissencephaly: A retrospective, multicenter survey of the epileptogenic phenotype and response to antiepileptic drugs. Brain and Development 38 (4), S. 399-406. Volltext nicht vorhanden.

Chen, C. J., Kaufman, S., Packo, K., Stöhr, Heidi, Weber, Bernhard H. F.

und Goldberg, M. F. (2016) Long-Term Macular Changes in the First Proband of Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC) Due to a Newly Identified Mutation in BEST1. Ophthalmic Genetics 37, S. 102-108. Volltext nicht vorhanden.

Di Donato, N., Neuhann, T., Kahlert, A.-K., Klink, B., Hackmann, K., Neuhann, I., Weber, Bernhard H. F.

, Schrock, Evelin, Dobyns, William B.

, Bier, Andrea und Rump, Andreas (2016) Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt. Journal of Medical Genetics 53 (6), S. 419-425. Volltext nicht vorhanden.

Girisha, Katta Mohan, Bidchol, Abdul Mueed, Graul-Neumann, Luitgard, Gupta, Ashish, Hehr, Ute, Lessel, Davor

, Nader, Sean, Shah, Hitesh, Wickert, Julia und Kutsche, Kerstin (2016) Phenotype and genotype in patients with Larsen syndrome: clinical homogeneity and allelic heterogeneity in seven patients. BMC Medical Genetics 17 (1). Volltext nicht vorhanden.

Kast, K., Rhiem, K., Wappenschmidt, B., Hahnen, E., Hauke, J., Bluemcke, B., Zarghooni, V., Herold, N., Ditsch, N., Kiechle, M., Braun, M., Fischer, C., Dikow, N., Schott, S.

, Rahner, N., Niederacher, D., Fehm, T., Gehrig, A., Mueller-Reible, C., Arnold, N.

, Maass, N., Borck, G., de Gregorio, N., Scholz, C., Auber, B., Varon-Manteeva, R., Speiser, D., Horvath, J., Lichey, N., Wimberger, P., Stark, S., Faust, U., Weber, Bernhard H. F.

, Emons, G., Zachariae, S., Meindl, A., Schmutzler, R. K., Engel, C.

und German Consortium for Hereditary Breast and Ovarian Cancer, . (2016) Prevalence of BRCA1/2 germline mutations in 21 401 families with breast and ovarian cancer. Journal of Medical Genetics 53 (7), S. 465-471. Volltext nicht vorhanden.

Kast, Karin, Rhiem, Kerstin, Wappenschmidt, Barbara, Hahnen, Eric, Hauke, Jan, Bluemcke, Britta, Zarghooni, Verena, Herold, Natalie, Ditsch, Nina, Kiechle, Marion, Braun, Michael, Fischer, Christine, Dikow, Nicola, Schott, Sarah

, Rahner, Nils, Niederacher, Dieter, Fehm, Tanja, Gehrig, Andrea, Mueller-Reible, Clemens, Arnold, Norbert

, Maass, Nicolai, Borck, Guntram, de Gregorio, Nikolaus, Scholz, Caroline, Auber, Bernd, Varon-Manteeva, Raymonda, Speiser, Dorothee, Horvath, Judit, Lichey, Nadine, Wimberger, Pauline, Stark, Sylvia, Faust, Ulrike und Weber, Bernhard H. F.

(2016) Prevalence ofBRCA1/2germline mutations in 21 401 families with breast and ovarian cancer. Journal of Medical Genetics 53 (7), S. 465-471. Volltext nicht vorhanden.

Lambertus, Stanley

, Lindner, Moritz

, Bax, Nathalie M., Mauschitz, Matthias M., Nadal, Jennifer, Schmid, Matthias

, Schmitz-Valckenberg, Steffen, den Hollander, Anneke I., Weber, Bernhard H. F.

, Holz, Frank G., van der Wilt, Gert Jan, Fleckenstein, Monika

und Hoyng, Carel B. (2016) Progression of Late-Onset Stargardt Disease. Investigative Opthalmology & Visual Science 57 (13), S. 5186.

Capone, Carmen, Cognat, Emmanuel

, Ghezali, Lamia, Baron-Menguy, Céline, Aubin, Déborah, Mesnard, Laurent, Stöhr, Heidi, Domenga-Denier, Valérie, Nelson, Mark T.

und Joutel, Anne

(2016) Reducing Timp3 or vitronectin ameliorates disease manifestations in CADASIL mice. Annals of Neurology 79 (3), S. 387-403. Volltext nicht vorhanden.

Apaolaza, P. S., del Pozo-Rodríguez, A., Solinís, M. A., Rodríguez, J. M., Friedrich, U., Torrecilla, J.

, Weber, Bernhard H. F.

und Rodríguez-Gascón, A.

(2016) Structural recovery of the retina in a retinoschisin-deficient mouse after gene replacement therapy by solid lipid nanoparticles. Biomaterials 90, S. 40-49. Volltext nicht vorhanden.

Busche, Andreas, Hehr, Ute, Sieg, Peter und Gillessen-Kaesbach, Gabriele (2016) Van der Woude and Popliteal Pterygium Syndromes: Broad intrafamilial variability in a three generation family with mutation inIRF6. American Journal of Medical Genetics Part A 170 (9), S. 2404-2407. Volltext nicht vorhanden.

Sell, Katharina, Storch, Katja, Hahn, Gabriele, Lee-Kirsch, Min Ae, Ramantani, Georgia

, Jackson, Sandra, Neilson, Derek, von der Hagen, Maja, Hehr, Ute und Smitka, Martin (2016) Variable clinical course in acute necrotizing encephalopathy and identification of a novel RANBP2 mutation. Brain and Development 38 (8), S. 777-780. Volltext nicht vorhanden.

Heid, Iris M., Stark, Klaus, Olden, Matthias

, Brandl, Caroline, Dietl, Alexander, Zimmermann, Martina E., Schelter, Sabine C., Loss, Julika, Leitzmann, Michael F., Böger, Carsten A., Luchner, Andreas

, Kronenberg, Florian, Helbig, Horst

und Weber, Bernhard H. F. (2015) The German AugUR study: study protocol of a prospective study to investigate chronic diseases in the elderly. BMC Geriatrics 15 (130), S. 1-8.

Grassmann, Felix, Ach, Thomas, Brandl, Caroline, Heid, Iris M. und Weber, Bernhard H. F.

(2015) What Does Genetics Tell Us About Age-Related Macular Degeneration? Annual Review of Vision Science 1, S. 73-96. Volltext nicht vorhanden.

Zimmermann, Martina E., Fuerstenau-Sharp, Maya, Stark, Klaus, Jentsch, Nico, Klingenstein, Melanie, Drzymalski, Marzena, Wagner, Stefan, Maier, Lars S., Baessler, Andrea, Fischer, Marcus, Hengstenberg, Christian und Hehr, Ute (2015) Generation of Highly Purified Human Cardiomyocytes from Peripheral Blood Mononuclear Cell-Derived Induced Pluripotent Stem Cells. PLoS ONE 10 (5), S. 1-21.

Weber, Bernhard H. F.

, Bergholz, Richard, Mändl, Julia, Jägle, Herbert, Ruether, Klaus und Grassmann, Felix

(2015) Common synonymous variants in ABCA4 are protective for chloroquine induced maculopathy (toxic maculopathy). BMC Ophthalmology 15 (18), S. 1-7.

Sporrer, Daniela, Gessner, Andre, Hehlgans, Thomas, Oefner, Peter J. und Holler, Ernst (2015) The Microbiome and Allogeneic Stem Cell Transplantation. Current Stem Cell Rep 1 (1), S. 53-59. Volltext nicht vorhanden.

Grassmann, Felix

, Friedrich, Ulrike, Fauser, Sascha, Schick, Tina, Milenkovic, Andrea, Schulz, Heidi L., von Strachwitz, Claudia N., Bettecken, Thomas, Lichtner, Peter, Meitinger, Thomas

, Arend, Nicole, Wolf, Armin, Haritoglou, Christos, Rudolph, Guenther, Chakravarthy, Usha

, Silvestri, Giuliana, McKay, Gareth J.

, Freitag-Wolf, Sandra, Krawczak, Michael

, Smith, R. Theodore, Merriam, John C., Merriam, Joanna E., Allikmets, Rando, Heid, Iris M. und Weber, Bernhard H. F.

(2015) A Candidate Gene Association Study Identifies DAPL1 as a Female-Specific Susceptibility Locus for Age-Related Macular Degeneration (AMD). NeuroMolecular Medicine 17 (2), S. 111-120.

Weaver, K. Nicole, Watt, Kristin E. Noack, Hufnagel, Robert B.

, Navajas Acedo, Joaquin, Linscott, Luke L.

, Sund, Kristen L., Bender, Patricia L., König, Rainer, Lourenco, Charles M., Hehr, Ute, Hopkin, Robert J., Lohmann, Dietmar R.

, Trainor, Paul A.

, Wieczorek, Dagmar und Saal, Howard M. (2015) Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction. The American Journal of Human Genetics 96 (5), S. 765-774. Volltext nicht vorhanden.

Preissler, Julia, Grosche, Antje

, Lede, Vera, Le Duc, Diana, Krügel, Katja, Matyash, Vitali, Szulzewsky, Frank, Kallendrusch, Sonja, Immig, Kerstin, Kettenmann, Helmut

, Bechmann, Ingo, Schöneberg, Torsten und Schulz, Angela (2015) Altered microglial phagocytosis in GPR34‐deficient mice. Glia 63 (2), S. 206-215. Volltext nicht vorhanden.

Rebbeck, T. R., Mitra, N., Wan, F., Weber, Bernhard H. F.

und et, al. (2015) Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer. JAMA 313, S. 1347-1361. Volltext nicht vorhanden.

Milenkovic, Andrea, Brandl, C.

, Milenkovic, Vladimir M., Jendryke, T., Sirianant, L., Wanitchakool, P., Zimmermann, S., Weber, Bernhard H. F., make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference

und make_name_string expected hash reference

(2015) Bestrophin 1 is indispensable for volume regulation in human retinal pigment epithelium cells. Proc Natl Acad Sci U S A (PNAS) 112 (20), E2630-E2639. Volltext nicht vorhanden.

Weber, Bernhard H. F.

, Grassmann, Felix

, Fleckenstein, Monika, Chew, Emily Y., Strunz, Tobias, Schmitz-Valckenberg, Steffen, Göbel, Arno P., Klein, Michael L., Ratnapriya, Rinki

, Swaroop, Anand und Holz, Frank G.

(2015) Clinical and Genetic Factors Associated with Progression of Geographic Atrophy Lesions in Age-Related Macular Degeneration. PLoS ONE 10 (5), S. 1-13.

Kellner, U., Kellner, S., Weinitz, S., Farmand, G., Weber, Bernhard H. F.

und Stöhr, Heidi (2015) Inherited Retinal or Optic Nerve Disorders – Five Steps to Diagnosis (Originaltitel: Erbliche Netzhaut- und Sehbahnerkrankungen – 5 Schritte zur Diagnose). Klinische Monatsblätter für Augenheilkunde 232, S. 250-258. Volltext nicht vorhanden.

Schleussner, Ekkehard, Kamin, Gabriele, Seliger, Gregor, Rogenhofer, Nina, Ebner, Susanne, Toth, Bettina, Schenk, Michael, Henes, Melanie, Bohlmann, Michael K., Fischer, Thorsten, Brosteanu, Oana, Bauersachs, Rupert und Petroff, David (2015) Low-Molecular-Weight Heparin for Women With Unexplained Recurrent Pregnancy Loss. Annals of Internal Medicine 162 (9), S. 601-609. Volltext nicht vorhanden.

Gramer, G., Weber, Bernhard H. F.

und Gramer, E. (2015) Migraine and Vasospasm in Glaucoma: Age-Related Evaluation of 2027 Patients With Glaucoma or Ocular Hypertension. Investigative Ophthalmology & Visual Science 56, 7999 -8007. Volltext nicht vorhanden.

Müller, P. L., Gliem, M., Mangold, E., Bolz, H. J., Finger, R. P.

, McGuinness, M., Betz, C., Jiang, Z., Weber, Bernhard H. F.

, make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference und make_name_string expected hash reference (2015) Monoallelic ABCA4 Mutations Appear Insufficient to Cause Retinopathy: A Quantitative Autofluorescence Study. Investigative Ophthalmology & Visual Science 56, S. 8179-8186. Volltext nicht vorhanden.

Voigt, Juliane, Grosche, Antje

, Vogler, Stefanie, Pannicke, Thomas, Hollborn, Margrit, Kohen, Leon, Wiedemann, Peter, Reichenbach, Andreas und Bringmann, Andreas (2015) Nonvesicular Release of ATP from Rat Retinal Glial (Müller) Cells is Differentially Mediated in Response to Osmotic Stress and Glutamate. Neurochemical Research 40 (4), S. 651-660. Volltext nicht vorhanden.

Chaoui, Rabih und Hehr, Ute (2015) Pränataldiagnostik bei fetaler Mikrozephalie. Medizinische Genetik 27 (4), S. 351-361. Volltext nicht vorhanden.

Gliem, M., Müller, Philipp L., Mangold, E., Bolz, H. J., Stöhr, Heidi, Weber, Bernhard H. F.

, Holz, F. G. und Issa, Peter Charbel (2015) Reticular Pseudodrusen in Sorsby Fundus Dystrophy. Ophthalmology 122, S. 1555-1562. Volltext nicht vorhanden.

Wunderlich, Kirsten A., Tanimoto, Naoyuki, Grosche, Antje

, Zrenner, Eberhart, Pekny, Milos, Reichenbach, Andreas, Seeliger, Mathias W., Pannicke, Thomas und Perez, Maria‐Thereza (2015) Retinal functional alterations in mice lacking intermediate filament proteins glial fibrillary acidic protein and vimentin. The FASEB Journal 29 (12), S. 4815-4828. Volltext nicht vorhanden.

Apaolaza, P. S., del Pozo-Rodríguez, A., Torrecilla, J.

, Rodríguez-Gascón, A., Rodríguez, J. M., Friedrich, Ulrike, Weber, Bernhard H. F.

und make_name_string expected hash reference (2015) Solid lipid nanoparticle-based vectors intended for the treatment of X-linked juvenile retinoschisis by gene therapy: In vivo approaches in Rs1h-deficient mouse model. Journal of Controlled Release 217, S. 273-283. Volltext nicht vorhanden.

Gliem, M., Müller, P. L., Mangold, E., Holz, Frank G., Bolz, H. J., Stöhr, Heidi, Weber, Bernhard H. F.

und make_name_string expected hash reference (2015) Sorsby Fundus Dystrophy: Novel Mutations, Novel Phenotypic Characteristics, and Treatment Outcomes. Investigative Ophthalmology & Visual Science (IOVS) 56, S. 2664-2276. Volltext nicht vorhanden.

Herbst, Saskia M., Schuierer, Gerhard und Hehr, Ute (2015) Strukturelle Hirnfehlbildungen mit Mikrozephalie. Medizinische Genetik 27 (4), S. 377-387. Volltext nicht vorhanden.

Friedrich, Ulrike, Datta, Shyamtanu, Schubert, Thomas

, Plößl, Karolina, Schneider, Magdalena, Grassmann, Felix

, Fuchshofer, Rudolf

, Tiefenbach, Klaus-Jürgen, Längst, Gernot und Weber, Bernhard H. F. (2015) Synonymous variants in HTRA1 implicated in AMD susceptibility impair its capacity to regulate TGF-β signaling. Human Molecular Genetics 24, S. 6361-6373. Volltext nicht vorhanden.

Herbst, S.M., Schirmer, S., Posovszky, C.

, Jochum, F., Rödl, T., Schroeder, J.A., Barth, T.F., Hehr, U., Melter, M. und Vermehren, J. (2015) Taking the next step forward – Diagnosing inherited infantile cholestatic disorders with next generation sequencing. Molecular and Cellular Probes 29 (5), S. 291-298. Volltext nicht vorhanden.

Brandl, Caroline, Grassmann, Felix, Riolfi, Julia und Weber, Bernhard H. F.

(2015) Tapping Stem Cells to Target AMD: Challenges and Prospects. Journal of Clinical Medicine 4, S. 282-303.

Grosche, Antje

, Hauser, Alexandra, Lepper, Marlen Franziska, Mayo, Rebecca, von Toerne, Christine

, Merl-Pham, Juliane

und Hauck, Stefanie M.

(2015) The Proteome of Native Adult Müller Glial Cells From Murine Retina. Molecular & Cellular Proteomics 15 (2), S. 462-480. Volltext nicht vorhanden.

Grassmann, Felix

, Fauser, Sascha und Weber, Bernhard H. F.

(2015) The genetics of age-related macular degeneration (AMD) – Novel targets for designing treatment options? European Journal of Pharmaceutics and Biopharmaceutics 95 Part B, S. 194-202. Volltext nicht vorhanden.

Grassmann, Felix

, Schoenberger, Peter G. A., Brandl, Caroline

, Schick, Tina, Hasler, Daniele

, Meister, Gunter, Fleckenstein, Monika

, Lindner, Moritz

, Helbig, Horst, Fauser, Sascha und Weber, Bernhard H. F.

(2014) A circulating microRNA profile is associated with late-stage neovascular age-related macular degeneration. PLoS ONE 9 (9), e107461.

Pannike, T., Frommherz, I., Biedermann, B., Wagner, L., Sauer, K., Ulbricht, E., Härtig, W., Krügel, U., Ueberham, U., Arendt, T., Illes, P., Bringmann, A., Reichenbach, A. und Grosche, Antje

(2014) Differential effects of P2Y1 deletion on glial activation and survival of photoreceptors and amacrine cells in the ischemic mouse retina. Cell Death and Disease 2014 (5), e1353.

Pauly, Diana, Nagel, Benedikt M., Reinders, Jörg, Killian, Tobias, Wulf, Matthias, Ackermann, Susanne

, Ehrenstein, Boris, Zipfel, Peter F., Skerka, Christine und Weber, Bernhard H. F.

(2014) A Novel Antibody against Human Properdin Inhibits the Alternative Complement System and Specifically Detects Properdin from Blood Samples. PLos ONE 9 (5), e96371.

Wieczorek, Dagmar, Newman, William G.

, Wieland, Thomas, Berulava, Tea, Kaffe, Maria, Falkenstein, Daniela, Beetz, Christian

, Graf, Elisabeth, Schwarzmayr, Thomas, Douzgou, Sofia, Clayton-Smith, Jill, Daly, Sarah B., Williams, Simon G.

, Bhaskar, Sanjeev S., Urquhart, Jill E.

, Anderson, Beverley, O’Sullivan, James, Boute, Odile, Gundlach, Jasmin, Czeschik, Johanna Christina, van Essen, Anthonie J., Hazan, Filiz, Park, Sarah, Hing, Anne, Kuechler, Alma, Lohmann, Dietmar R.

, Ludwig, Kerstin U., Mangold, Elisabeth, Steenpaß, Laura, Zeschnigk, Michael, Lemke, Johannes R., Lourenco, Charles Marques, Hehr, Ute, Prott, Eva-Christina, Waldenberger, Melanie, Böhmer, Anne C., Horsthemke, Bernhard, O’Keefe, Raymond T., Meitinger, Thomas

, Burn, John, Lüdecke, Hermann-Josef und Strom, Tim M. (2014) Compound Heterozygosity of Low-Frequency Promoter Deletions and Rare Loss-of-Function Mutations in TXNL4A Causes Burn-McKeown Syndrome. The American Journal of Human Genetics 95 (6), S. 698-707. Volltext nicht vorhanden.

Evers, C., Jungwirth, M.S., Morgenthaler, J., Hinderhofer, K., Maas, B., Janssen, J.W.G., Jauch, A., Hehr, U., Steinbeisser, H. und Moog, U. (2014) Craniofrontonasal syndrome in a male due to chromosomal mosaicism involving EFNB1: further insights into a genetic paradox. Clinical Genetics 85 (4), S. 347-353. Volltext nicht vorhanden.

Pilz, P., Meyer-Marcotty, P., Eigenthaler, M., Weber, Bernhard H. F., Stellzig-Eisenhauer, A.

und make_name_string expected hash reference (2014) Differential diagnosis of primary failure of eruption (PFE) with and without evidence of pathogenic mutations in the PTHR1 gene. Journal of Orofacial Orthopedics 75, S. 226-238. Volltext nicht vorhanden.

Karlstetter, Marcus, Sorusch, Nasrin, Caramoy, Albert, Dannhausen, Katharina, Aslanidis, Alexander, Fauser, Sascha, Boesl, Michael R., Nagel-Wolfrum, Kerstin, Tamm, Ernst R.

, Jägle, Herbert, Stoehr, Heidi, Wolfrum, Uwe und Langmann, Thomas (2014) Disruption of the retinitis pigmentosa 28 gene Fam161a in mice affects photoreceptor ciliary structure and leads to progressive retinal degeneration. Human Molecular Genetics 23 (19), S. 5197-5210. Volltext nicht vorhanden.

Roth, Helmut, Fritsche, Lars G.

, Meier, Christoph, Pilz, P., Eigenthaler, M., Meyer-Marcotty, P., Stellzig-Eisenhauer, A., Proff, Peter, Kanno, C. M. und Weber, Bernhard H. F.

(2014) Expanding the spectrum of PTH1R mutations in patients with primary failure of tooth eruption. Clinical Oral Investigations 18, S. 377-384. Volltext nicht vorhanden.

Havlicek, S., Kohl, Z., Mishra, H. K., Prots, I.

, Eberhardt, E., Denguir, N., Wend, H., Plotz, S., Boyer, L.

, Marchetto, M. C. N., Aigner, S.

, Sticht, H.

, Groemer, T. W., Hehr, U., Lampert, A.

, Schlotzer-Schrehardt, U., Winkler, J., Gage, F. H. und Winner, B.

(2014) Gene dosage-dependent rescue of HSP neurite defects in SPG4 patients' neurons. Human Molecular Genetics 23 (10), S. 2527-2541. Volltext nicht vorhanden.

Wagner, Lysann, Warwick, Rebekah A., Pannicke, Thomas, Reichenbach, Andreas, Grosche, Antje

und Hanani, Menachem (2014) Glutamate release from satellite glial cells of the murine trigeminal ganglion. Neuroscience Letters 578, S. 143-147. Volltext nicht vorhanden.

Gorski, M., Winkler, T. W., Stark, K., Müller-Nurasyid, M., Ried, J. S., Grallert, H., Weber, Bernhard H. F.

und Heid, Iris M. (2014) Harmonization of study and reference data by PhaseLift: saving time when imputing study data. Genetic Epidemiology 38, S. 381-388. Volltext nicht vorhanden.

Weber, Bernhard H. F. und Holz, Frank G. (2014) In Reply. Deutsches Ärzteblatt international. Volltext nicht vorhanden.

Brandl, Caroline

, Zimmermann, Stephanie J., Milenkovic, Vladimir M., Rosendahl, S. M., Grassmann, Felix

, Milenkovic, Andrea, Hehr, Ute, Federlin, Marianne, Wetzel, Christian H.

, Helbig, Horst und Weber, Bernhard H. F.

(2014) In-Depth Characterisation of Retinal Pigment Epithelium (RPE) Cells Derived from Human Induced Pluripotent Stem Cells (hiPSC). NeuroMolecular Medicine 16, S. 551-564.

Basmanav, F. Buket, Oprisoreanu, Ana-Maria, Pasternack, Sandra M., Thiele, Holger, Fritz, Günter

, Wenzel, Jörg

, Größer, Leopold, Wehner, Maria, Wolf, Sabrina, Fagerberg, Christina

, Bygum, Anette

, Altmüller, Janine, Rütten, Arno, Parmentier, Laurent, El Shabrawi-Caelen, Laila, Hafner, Christian, Nürnberg, Peter, Kruse, Roland, Schoch, Susanne, Hanneken, Sandra und Betz, Regina C.

(2014) Mutations in POGLUT1, Encoding Protein O-Glucosyltransferase 1, Cause Autosomal-Dominant Dowling-Degos Disease. The American Journal of Human Genetics 94 (1), S. 135-143. Volltext nicht vorhanden.

Garcia, Tarcyane Barata, Pannicke, Thomas, Vogler, Stefanie, Berk, Benjamin‐Andreas, Grosche, Antje

, Wiedemann, Peter, Seeger, Johannes, Reichenbach, Andreas, Herculano, Anderson Manoel und Bringmann, Andreas (2014) Nerve growth factor inhibits osmotic swelling of rat retinal glial (Müller) and bipolar cells by inducing glial cytokine release. Journal of Neurochemistry 131 (3), S. 303-313. Volltext nicht vorhanden.

Hehr, Andreas, Frister, Helmut, Fondel, Sabine, Krauß, Susann, Zuehlke, Christine, Hellenbroich, Yorck, Hehr, Ute und Gillessen-Kaesbach, Gabriele (2014) Präimplantationsdiagnostik. Medizinische Genetik 26 (4), S. 417-426. Volltext nicht vorhanden.

Ratnapriya, R., Zhan, X., Fariss, R. N.

, Weber, Bernhard H. F., make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference

, make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference

, make_name_string expected hash reference

, make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference

, make_name_string expected hash reference

, make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference und make_name_string expected hash reference

(2014) Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration. Human Molecular Genetics 23, S. 5827-5837. Volltext nicht vorhanden.

Gramer, G., Weber, Bernhard H. F.

und Gramer, E. (2014) Results of a patient-directed survey on frequency of family history of glaucoma in 2170 patients. Investigative ophthalmology and visual science 55 (1), S. 259-264.

Weber, Bernhard H. F.

, Charbel Issa, Peter, Pauly, Diana, Herrmann, Philipp, Grassmann, Felix

und Holz, Frank G. (2014) The Role of the Complement System in Age-Related Macular Degeneration. Deutsches Ärzteblatt international. Volltext nicht vorhanden.

Weber, Bernhard H. F.

, Issa, Peter Charbel, Pauly, Diana

, Herrmann, Philipp, Grassmann, Felix und Holz, Frank G. (2014) The role of the complement system in age-related macular degeneration. Deutsches Ärzteblatt international 111, S. 133-138. Volltext nicht vorhanden.

Gliem, Martin, Holz, Frank G., Stöhr, Heidi, Weber, Bernhard H. F.

und Charbel Issa, Peter (2014) X-LINKED JUVENILE RETINOSCHISIS IN A CONSANGUINEOUS FAMILY. Retina 34 (12), S. 2472-2478. Volltext nicht vorhanden.

Gliem, M., Holz, Frank G., Stöhr, Heidi, Weber, Bernhard H. F.

und Issa, Peter Charbel (2014) X-linked juvenile retinoschisis in a consanguineous family: phenotypic variability and report of a homozygous female patient. Retina 34, S. 2472-2408. Volltext nicht vorhanden.

Czeschik, Johanna Christina

, Hehr, Ute, Hartmann, Britta, Lüdecke, Hermann-Josef, Rosenbaum, Thorsten, Schweiger, Bernd und Wieczorek, Dagmar (2013) 160 kb deletion in ISPD unmasking a recessive mutation in a patient with Walker–Warburg syndrome. European Journal of Medical Genetics 56 (12), S. 689-694. Volltext nicht vorhanden.

Keilhauer, C. N., Fritsche, L. G.

, Guthoff, R., Haubitz, I. und Weber, Bernhard H. F.

(2013) Age-related macular degeneration and coronary heart disease: Evaluation of genetic and environmental associations. European journal of medical genetics 56 (2), S. 72-79. Volltext nicht vorhanden.

Fung, A. T., Stöhr, Heidi, Weber, Bernhard H. F.

, Holz, F. G. und Yannuzzi, L. A. (2013) Atypical sorsby fundus dystrophy with a novel tyr159cys timp-3 mutation. Retinal Cases & Brief Reports 7, S. 71-74. Volltext nicht vorhanden.

Czeschik, J. C.

, Voigt, C., Alanay, Y., Albrecht, B., Avci, S., FitzPatrick, D.

, Goudie, D. R., Hehr, U., Hoogeboom, A. J., Kayserili, H., Simsek-Kiper, P. O., Klein-Hitpass, L., Kuechler, A., López-González, V., Martin, M.

, Rahmann, S., Schweiger, B.

, Splitt, M., Wollnik, B., Lüdecke, H. -J., Zeschnigk, M. und Wieczorek, D. (2013) Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome. Human Genetics 132 (8), S. 885-898. Volltext nicht vorhanden.

Grosche, Antje

, Pannicke, Thomas, Chen, Ju, Reichenbach, A., Bringmann, A. und make_name_string expected hash reference (2013) Disruption of Endogenous Purinergic Signaling Inhibits Vascular Endothelial Growth Factor- and Glutamate-Induced Osmotic Volume Regulation of Muller Glial Cells in Knockout Mice. Ophthalmic Research 50, S. 209-214.

Zollbrecht, Christa, Grassl, Martina, Fenk, Sabine, Höcherl, Regina, Hubauer, Ute, Reinhard, Wibke, Esslinger, Ulrike B., Ebert, Stefanie, Langmann, Thomas, Stark, Klaus und Hengstenberg, Christian (2013) Expression pattern in human macrophages dependent on 9p21.3 coronary artery disease risk locus. Atherosclerosis 227 (2), S. 244-249. Volltext nicht vorhanden.

Schreml, Stephan, Weber, Bernhard H. F.

, Schröder, J., Siegmund, H., Schaller, J., Vogt, T., Landthaler, Michael und Babilas, Philipp (2013) Familial primary localized cutaneous amyloidosis with an oncostatin M receptor-β mutation, Pro694Leu. Clinical and Experimental Dermatology 38, S. 932-935. Volltext nicht vorhanden.

Couch, F. J., Wang, X.

, McGuffog, L., Lee, A., Olswold, C., Kuchenbaecker, K. B., Soucy, P., Weber, Bernhard H. F., et, al.

, make_name_string expected hash reference

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Geis, Tobias, Marquard, Klaus, Rödl, Tanja, Reihle, Christof, Schirmer, Sophie, von Kalle, Thekla, Bornemann, Antje, Hehr, Ute und Blankenburg, Markus (2013) Homozygous dystroglycan mutation associated with a novel muscle–eye–brain disease-like phenotype with multicystic leucodystrophy. neurogenetics 14 (3-4), S. 205-213. Volltext nicht vorhanden.

Zhan, X., Larson, D. E.

, Wang, C.

, Koboldt, D. C., Sergeev, Y. V., Fulton, R. S., Fulton, L. L., Fronick, C. C., Branham, K. E., Bragg-Gresham, J., Jun, G.

, Hu, Y., Kang, H. M., Liu, D., Weber, Bernhard H. F., et, al., make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference

, make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference

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und make_name_string expected hash reference (2013) Identification of a rare coding variant in complement 3 associated with age-related macular degeneration. Nature Genetics 45, S. 1375-1379. Volltext nicht vorhanden.

Groh, Janos

, Kühl, Thomas G., Ip, Chi Wang

, Nelvagal, Hemanth R.

, Sri, Sarmi, Duckett, Steven, Mirza, Myriam, Langmann, Thomas, Cooper, Jonathan D.

und Martini, Rudolf

(2013) Immune cells perturb axons and impair neuronal survival in a mouse model of infantile neuronal ceroid lipofuscinosis. Brain 136 (4), S. 1083-1101. Volltext nicht vorhanden.

Voigt, Claudia, Mégarbané, André, Neveling, Kornelia, Czeschik, Johanna Christina

, Albrecht, Beate, Callewaert, Bert

, von Deimling, Florian, Hehr, Andreas, Falkenberg Smeland, Marie, König, Rainer, Kuechler, Alma, Marcelis, Carlo, Puiu, Maria, Reardon, Willie, Riise Stensland, Hilde Monica Frostad, Schweiger, Bernd

, Steehouwer, Marloes, Teller, Christopher, Martin, Marcel

, Rahmann, Sven, Hehr, Ute, Brunner, Han G, Lüdecke, Hermann-Josef und Wieczorek, Dagmar (2013) Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations. Orphanet Journal of Rare Diseases 8 (1). Volltext nicht vorhanden.

Cushion, Thomas D.

, Dobyns, William B.

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Karlstetter, Marcus, Lippe, Elena, Walczak, Yana, Moehle, Christoph, Aslanidis, Alexander, Mirza, Myriam und Langmann, Thomas (2011) Curcumin is a potent modulator of microglial gene expression and migration. Journal of neuroinflammation 8, S. 125.

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, make_name_string expected hash reference, make_name_string expected hash reference

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, make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference

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, Lawrence, Karen A.

, Karlstetter, Marcus, Myers, Connie A., Abdelaziz, Musa, Dirkes, William, Weigelt, Karin, Seifert, Martin, Benes, Vladimir

, Fritsche, Lars G.

, Weber, Bernhard H. F.

und Langmann, Thomas (2010) CRX ChIP-seq reveals the cis-regulatory architecture of mouse photoreceptors. Genome research 20 (11), S. 1512-25. Volltext nicht vorhanden.

Morsczeck, Christian, Völlner, Florian, Saugspier, Michael, Brandl, Caroline

, Reichert, Torsten Eugen, Driemel, Oliver und Schmalz, Gottfried (2010) Comparison of human dental follicle cells (DFCs) and stem cells from human exfoliated deciduous teeth (SHED) after neural differentiation in vitro. Clinical Oral Investigations 14 (4), S. 433-440. Volltext nicht vorhanden.

Lauer, Nadine, Mihlan, Michael, Hartmann, Andrea, Schlötzer-Schrehard, Ursula, Keilhauer, Claudia, Scholl, Hendrik P.N., Charbel-Issa, Peter, Holz, Frank, Weber, Bernhard H.F. und Skerka, Christine (2010) Complement regulation at necrotic cell lesions is impaired by the AMD associated Factor H—H402 risk variant. Molecular Immunology 47 (13), S. 2211. Volltext nicht vorhanden.

Lommel, M., Cirak, S., Willer, T., Hermann, R., Uyanik, G., van Bokhoven, H.

, Körner, C., Voit, T., Barić, I., Hehr, U. und Strahl, S. (2010) Correlation of enzyme activity and clinical phenotype in POMT1-associated dystroglycanopathies. Neurology 74 (2), S. 157-164. Volltext nicht vorhanden.

Edener, Ulf, Wöllner, Janine, Hehr, Ute, Kohl, Zacharias, Schilling, Stefan, Kreuz, Friedmar, Bauer, Peter, Bernard, Veronica, Gillessen-Kaesbach, Gabriele und Zühlke, Christine (2010) Early onset and slow progression of SCA28, a rare dominant ataxia in a large four-generation family with a novel AFG3L2 mutation. European Journal of Human Genetics 18 (8), S. 965-968. Volltext nicht vorhanden.

Milenkovic, Vladimir M., Brockmann, Marisa

, Stöhr, Heidi, Weber, Bernhard H. F.

und Strauss, Olaf (2010) Evolution and functional divergence of the anoctamin family of membrane proteins. BMC evolutionary biology 10, S. 319.

Pasutto, F., Chavarria-Soley, G., Mardin, C. Y., Michels-Rautenstrauss, K., Ingelman-Sundberg, M., Fernández-Martínez, L., Weber, Bernhard H. F.

, Rautenstrauss, B.

und Reis, A.

(2010) Heterozygous loss-of-function variants in CYP1B1 predispose to primary open-angle glaucoma. Investigative ophthalmology and visual science 51 (1), S. 249-254.

Hehr, Ute, Pineda-Alvarez, Daniel E., Uyanik, Goekhan, Hu, Ping, Zhou, Nan, Hehr, Andreas, Schell-Apacik, Chayim, Altus, Carola, Daumer-Haas, Cornelia, Meiner, Annechristin, Steuernagel, Peter, Roessler, Erich, Winkler, Juergen und Muenke, Maximilian

(2010) Heterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephaly. Human Genetics 127 (5), S. 555-561. Volltext nicht vorhanden.

Schroeder, C., Stutzmann, F., Weber, Bernhard H. F.

, Riess, O. und Bonin, M. (2010) High-throughput resequencing in the diagnosis of BRCA1/2 mutations using oligonucleotide resequencing microarrays. Breast Cancer Research and Treatment 122 (1), S. 287-297. Volltext nicht vorhanden.

Tchatchou, S., Riedel, A., Lyer, S., Schmutzhard, J., Strobel-Freidekind, O., Gronert-Sum, S., Mietag, C., D'Amato, M.

, Schlehe, B., Hemminki, K., Sutter, C., Ditsch, N., Blackburn, A.

, Hill, L. Z., Jerry, D. J., Bugert, P., Weber, Bernhard H. F.

, et, al., make_name_string expected hash reference

, make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference

, make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference und make_name_string expected hash reference (2010) Identification of a DMBT1 polymorphism associated with increased breast cancer risk and decreased promoter activity. Human Mutation 31 (1), S. 60-66. Volltext nicht vorhanden.

Lauer, Nadine, Fritsche, Lars G., Weber, Bernhard H.F., Hartmann, Andrea, Keilhauer, Claudia N., Hälbich, Steffi, Oppermann, Martin, Pandey, Manoij, Köhl, Jörg und Zipfel, Peter F. (2010) Imbalance of complement regulatory proteins CFHR1, CFHR3 and factor H influences risk for age related macular degeneration (AMD). Molecular Immunology 47 (13), S. 2211. Volltext nicht vorhanden.

Dirscherl, Konstantin, Karlstetter, Marcus, Ebert, Stefanie, Kraus, Dominik, Hlawatsch, Julia, Walczak, Yana, Moehle, Christoph, Fuchshofer, Rudolf

und Langmann, Thomas (2010) Luteolin triggers global changes in the microglial transcriptome leading to a unique anti-inflammatory and neuroprotective phenotype. Journal of Neuroinflammation 7 (1). Volltext nicht vorhanden.

Karlstetter, Marcus, Ebert, Stefanie und Langmann, Thomas (2010) Microglia in the healthy and degenerating retina: Insights from novel mouse models. Immunobiology 215 (9-10), S. 685-691. Volltext nicht vorhanden.

Solomon, B. D., Lacbawan, F., Mercier, S., Clegg, N. J., Delgado, M. R., Rosenbaum, K., Dubourg, C., David, V., Olney, A. H., Wehner, L.-E., Hehr, U., Bale, S., Paulussen, A., Smeets, H. J., Hardisty, E., Tylki-Szymanska, A.

, Pronicka, E.

, Clemens, M., McPherson, E., Hennekam, R. C. M., Hahn, J., Stashinko, E., Levey, E., Wieczorek, D., Roeder, E., Schell-Apacik, C. C., Booth, C. W., Thomas, R. L., Kenwrick, S., Cummings, D. A. T., Bous, S. M., Keaton, A., Balog, J. Z., Hadley, D., Zhou, N., Long, R., Velez, J. I.

, Pineda-Alvarez, D. E., Odent, S., Roessler, E. und Muenke, M.

(2010) Mutations in ZIC2 in human holoprosencephaly: description of a Novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals. Journal of Medical Genetics 47 (8), S. 513-524. Volltext nicht vorhanden.

Langmann, Thomas, Di Gioia, S. A., Rau, I., Stöhr, Heidi, Maksimovic, N. S., Corbo, J. C.

, Renner, Agnes B., Zrenner, Eberhart, Kumaramanickavel, G., Karlstetter, Marcus, Arsenijevic, Y., Weber, Bernhard H. F.

, make_name_string expected hash reference und make_name_string expected hash reference

(2010) Nonsense mutations in FAM161A cause RP28-associated recessive retinitis pigmentosa. American Journal of Human Genetics 87, S. 376-381. Volltext nicht vorhanden.

Stellzig-Eisenhauer, A., Decker, E., Meyer-Marcotty, P., Rau, C., Fiebig, B. S., Kress, W., Saar, K.

, Rüschendorf, F., Hubner, N., Grimm, T., Witt, E. und Weber, Bernhard H. F.

(2010) Primary failure of eruption (PFE)--clinical and molecular genetics analysis. Journal of Orofacial Orthopedics/Fortschritte der KieferorthopÃ¤die 71 (1), S. 6-16. Volltext nicht vorhanden.

Brandl, C.

, Kaesbauer, J., Weber, Bernhard H. F.

und Morsczeck, C. (2010) Spontaneous immortalization of neural crest-derived corneal progenitor cells after chromosomal aberration. Cell Proliferation 43, S. 372-377. Volltext nicht vorhanden.

Felthaus, Oliver, Ernst, Wolfgang, Driemel, Oliver, Reichert, Torsten E., Schmalz, Gottfried und Morsczeck, Christian (2010) TGF-β stimulates glial-like differentiation in murine dental follicle precursor cells (mDFPCs). Neuroscience Letters 471 (3), S. 179-184. Volltext nicht vorhanden.

Saugspier, Michael, Felthaus, Oliver, Viale-Bouroncle, Sandra, Driemel, Oliver, Reichert, Torsten E., Schmalz, Gottfried und Morsczeck, Christian (2010) The Differentiation and Gene Expression Profile of Human Dental Follicle Cells. Stem Cells and Development 19 (5), S. 707-717. Volltext nicht vorhanden.

Karlstetter, Marcus, Walczak, Yana, Weigelt, Karin, Ebert, Stefanie, Van den Brulle, Jan, Schwer, Heinz, Fuchshofer, Rudolf

und Langmann, Thomas (2010) The Novel Activated Microglia/Macrophage WAP Domain Protein, AMWAP, Acts as a Counter-Regulator of Proinflammatory Response. The Journal of Immunology 185 (6), S. 3379-3390. Volltext nicht vorhanden.

Völlner, Florian, Ernst, Wolfgang, Driemel, Oliver und Morsczeck, Christian (2009) A two-step strategy for neuronal differentiation in vitro of human dental follicle cells. Differentiation 77 (5), S. 433-441. Volltext nicht vorhanden.

Tchatchou, S., Jung, A., Hemminki, K., Sutter, C., Wappenschmidt, B., Bugert, P., Weber, Bernhard H. F.

, Niederacher, D., Arnold, N.

, Varon-Mateeva, R., Ditsch, N., Meindl, A., Schmutzler, R. K., Bartram, C. R. und Burwinkel, B. (2009) A variant affecting a putative miRNA target site in estrogen receptor (ESR) 1 is associated with breast cancer risk in premenopausal women. Carcinogenesis 30 (1), S. 59-64. Volltext nicht vorhanden.

Fritsche, L. G.

, Freitag-Wolf, S., Bettecken, T., Meitinger, T.

, Keilhauer, C. N., Krawczak, Michael

und Weber, Bernhard H. F.

(2009) Age-related macular degeneration and functional promoter and coding variants of the apolipoprotein E gene. Human Mutation 30, S. 1048-1053. Volltext nicht vorhanden.

Rudnik-Schöneborn, S., Hehr, U., Kalle, T. von, Bornemann, A., Winkler, J. und Zerres, K. (2009) Andermann Syndrome can be a Phenocopy of Hereditary Motor and Sensory Neuropathy – Report of a Discordant Sibship with a Compound Heterozygous Mutation of theKCC3Gene. Neuropediatrics 40 (03), S. 129-133. Volltext nicht vorhanden.

Uyanik, G. und Hehr, U. (2009) Angeborene Hirnfehlbildungen und geistige Behinderung. Medizinische Genetik 21 (2), S. 217-223. Volltext nicht vorhanden.

Scholl, H. P., Fleckenstein, M., Fritsche, L. G., Schmitz-Valckenberg, S., Göbel, A., Adrion, C., Herold, C., Keilhauer, C. N., Mackensen, F., Mössner, A., Pauleikhoff, D., Weinberger, A. W., Mansmann, U., Holz, F. G., Becker, T. und Weber, Bernhard H. F.

(2009) CFH, C3 and ARMS2 are significant risk loci for susceptibility but not for disease progression of geographic atrophy due to AMD. PLoS one 4 (10), e7418.

Hendig, Doris

, Langmann, Thomas, Zarbock, Ralf, Schmitz, Gerd, Kleesiek, Knut und Götting, Christian (2009) Characterization of the ATP-binding cassette transporter gene expression profile in Y79: a retinoblastoma cell line. Molecular and Cellular Biochemistry 328 (1-2), S. 85-92. Volltext nicht vorhanden.

Lacbawan, F, Solomon, B D, Roessler, E, El-Jaick, K

, Domene, S, Velez, J I

, Zhou, N, Hadley, D, Balog, J Z, Long, R, Fryer, A, Smith, W, Omar, S, McLean, S D, Clarkson, K, Lichty, A, Clegg, N J, Delgado, M R, Levey, E, Stashinko, E, Potocki, L, VanAllen, M I, Clayton-Smith, J, Donnai, D, Bianchi, D W, Juliusson, P B, Njolstad, P R, Brunner, H G, Carey, J C, Hehr, U, Musebeck, J, Wieacker, P F, Postra, A, Hennekam, R C M, van den Boogaard, M-J H, van Haeringen, A, Paulussen, A, Herbergs, J, Schrander-Stumpel, C T R M, Janecke, A R

, Chitayat, D, Hahn, J, McDonald-McGinn, D M, Zackai, E H, Dobyns, W B

und Muenke, M

(2009) Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function. Journal of Medical Genetics 46 (6), S. 389-398. Volltext nicht vorhanden.

Antoniou, Antonis C., Sinilnikova, Olga M., McGuffog, Lesley, Healey, Sue, Nevanlinna, Heli

, Heikkinen, Tuomas

, Simard, Jacques, Spurdle, Amanda B.

, Beesley, Jonathan

, Chen, Xiaoqing, Neuhausen, Susan L., Ding, Yuan C., Couch, Fergus J., Wang, Xianshu, Fredericksen, Zachary, Peterlongo, Paolo

, Peissel, Bernard

, Bonanni, Bernardo, Viel, Alessandra

, Bernard, Loris, Radice, Paolo

, Szabo, Csilla I., Foretova, Lenka, Zikan, Michal

, Claes, Kathleen

, Greene, Mark H., Mai, Phuong L., Rennert, Gad, Lejbkowicz, Flavio, Andrulis, Irene L., Ozcelik, Hilmi, Glendon, Gord, Gerdes, Anne-Marie

, Thomassen, Mads, Sunde, Lone

, Caligo, Maria A.

, Laitman, Yael, Kontorovich, Tair, Cohen, Shimrit, Kaufman, Bella, Dagan, Efrat, Baruch, Ruth Gershoni, Friedman, Eitan, Harbst, Katja, Barbany-Bustinza, Gisela, Rantala, Johanna, Ehrencrona, Hans

, Karlsson, Per, Domchek, Susan M., Nathanson, Katherine L.

, Osorio, Ana

, Blanco, Ignacio

, Lasa, Adriana

, Benítez, Javier, Hamann, Ute, Hogervorst, Frans B.L., Rookus, Matti A., Collee, J. Margriet, Devilee, Peter, Ligtenberg, Marjolijn J.

, van der Luijt, Rob B.

, Aalfs, Cora M., Waisfisz, Quinten, Wijnen, Juul, van Roozendaal, Cornelis E.P., Peock, Susan, Cook, Margaret, Frost, Debra, Oliver, Clare, Platte, Radka, Evans, D. Gareth

, Lalloo, Fiona, Eeles, Rosalind

, Izatt, Louise, Davidson, Rosemarie, Chu, Carol, Eccles, Diana

, Cole, Trevor, Hodgson, Shirley, Godwin, Andrew K., Stoppa-Lyonnet, Dominique, Buecher, Bruno, Léoné, Mélanie, Bressac-de Paillerets, Brigitte

, Remenieras, Audrey, Caron, Olivier, Lenoir, Gilbert M., Sevenet, Nicolas, Longy, Michel, Ferrer, Sandra Fert, Prieur, Fabienne, Goldgar, David, Miron, Alexander, John, Esther M., Buys, Saundra S., Daly, Mary B., Hopper, John L., Terry, Mary Beth, Yassin, Yosuf, Gschwantler-Kaulich, Daphne, Staudigl, Christine, Hansen, Thomas v. O., Barkardottir, Rosa Bjork, Kirchhoff, Tomas, Pal, Prodipto

, Kosarin, Kristi

, Offit, Kenneth, Piedmonte, Marion, Rodriguez, Gustavo C., Wakeley, Katie, Boggess, John F., Basil, Jack, Schwartz, Peter E., Blank, Stephanie V., Toland, Amanda E., Montagna, Marco, Casella, Cinzia, Imyanitov, Evgeny N., Allavena, Anna, Schmutzler, Rita K., Versmold, Beatrix, Engel, Christoph, Meindl, Alfons

, Ditsch, Nina, Arnold, Norbert, Niederacher, Dieter

, Deißler, Helmut, Fiebig, Britta, Suttner, Christian, Schönbuchner, Ines, Gadzicki, Dorothea, Caldes, Trinidad, de la Hoya, Miguel, Pooley, Karen A.

, Easton, Douglas F., Chenevix-Trench, Georgia und make_name_string expected hash reference (2009) Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers. Human Molecular Genetics 18 (22), S. 4442-4456. Volltext nicht vorhanden.

Ernst, Wolfgang, Saugspier, Michael, Felthaus, Oliver, Driemel, Oliver und Morsczeck, Christian (2009) Comparison of murine dental follicle precursor and retinal progenitor cells after neural differentiation in vitro. Cell Biology International 33 (7), S. 758-764. Volltext nicht vorhanden.

Ebert, Stefanie, Weigelt, K., Walczak, Yana, Drobnik, W., Mauerer, Richard, Hume, David A.

, Weber, Bernhard H. F.

und make_name_string expected hash reference (2009) Docosahexaenoic acid attenuates microglial activation and delays early retinal degeneration. Journal of Neurochemistry 110, S. 1863-1875. Volltext nicht vorhanden.

Osorio, A

, Milne, R L, Pita, G, Peterlongo, P

, Heikkinen, T

, Simard, J, Chenevix-Trench, G, Spurdle, A B

, Beesley, J

, Chen, X, Healey, S, Neuhausen, S L, Ding, Y C, Couch, F J, Wang, X, Lindor, N, Manoukian, S, Barile, M, Viel, A

, Tizzoni, L, Szabo, C I, Foretova, L, Zikan, M

, Claes, K

, Greene, M H, Mai, P, Rennert, G, Lejbkowicz, F, Barnett-Griness, O, Andrulis, I L, Ozcelik, H, Weerasooriya, N, Gerdes, A-M

, Thomassen, M, Cruger, D G, Caligo, M A

, Friedman, E, Kaufman, B, Laitman, Y, Cohen, S, Kontorovich, T, Gershoni-Baruch, R, Dagan, E, Jernström, H, Askmalm, M S, Arver, B, Malmer, B, Domchek, S M, Nathanson, K L

, Brunet, J

, Ramón y Cajal, T, Yannoukakos, D

, Hamann, U, Hogervorst, F B L, Verhoef, S, García, EB Gómez, Wijnen, J T, van den Ouweland, A, Easton, D F, Peock, S, Cook, M, Oliver, C T, Frost, D, Luccarini, C, Evans, D G

, Lalloo, F, Eeles, R

, Pichert, G, Cook, J, Hodgson, S, Morrison, P J, Douglas, F, Godwin, A K, Sinilnikova, O M, Barjhoux, L, Stoppa-Lyonnet, D, Moncoutier, V, Giraud, S, Cassini, C, Olivier-Faivre, L, Révillion, F, Peyrat, J-P, Muller, D, Fricker, J-P, Lynch, H T, John, E M, Buys, S, Daly, M, Hopper, J L, Terry, M B, Miron, A, Yassin, Y, Goldgar, D, Singer, C F, Gschwantler-Kaulich, D, Pfeiler, G, Spiess, A-C, Hansen, Thomas v O, Johannsson, O T, Kirchhoff, T

, Offit, K, Kosarin, K, Piedmonte, M, Rodriguez, G C, Wakeley, K, Boggess, J F, Basil, J, Schwartz, P E, Blank, S V, Toland, A E, Montagna, M, Casella, C, Imyanitov, E N, Allavena, A, Schmutzler, R K, Versmold, B, Engel, C

, Meindl, A, Ditsch, N, Arnold, N

, Niederacher, D, Deißler, H, Fiebig, B, Varon-Mateeva, R, Schaefer, D, Froster, U G, Caldes, T, de la Hoya, M, McGuffog, L, Antoniou, A C, Nevanlinna, H

, Radice, P

und Benítez, J (2009) Evaluation of a candidate breast cancer associated SNP in ERCC4 as a risk modifier in BRCA1 and BRCA2 mutation carriers. Results from the Consortium of Investigators of Modifiers of BRCA1/BRCA2 (CIMBA). British Journal of Cancer 101 (12), S. 2048-2054. Volltext nicht vorhanden.

Kellner, U., Kellner, S., Renner, A. B., Fiebig, B. S., Weinitz, S. und Weber, Bernhard H. F.

(2009) Evidenzbasierte Diagnostik hereditärer Netzhautdystrophien 2009 =
Evidence-Based Diagnostic Approach to Inherited Retinal Dystrophies 2009. Klinische Monatsblätter für Augenheilkunde 226 (12), S. 999-1011.

Krumbiegel, M., Pasutto, F., Mardin, C. Y., Weisschuh, N., Paoli, D., Gramer, E., Zenkel, M., Weber, Bernhard H. F.

, Kruse, F. E., Schlötzer-Schrehardt, U. und Reis, A.

(2009) Exploring functional candidate genes for genetic association in German patients with pseudoexfoliation syndrome and pseudoexfoliation glaucoma. Investigative ophthalmology and visual science 50 (6), S. 2796-2801.

Schule, R, Schlipf, N, Synofzik, M, Klebe, S, Klimpe, S, Hehr, U, Winner, B

, Lindig, T, Dotzer, A, Riess, O, Winkler, J, Schols, L und Bauer, P (2009) Frequency and phenotype of SPG11 and SPG15 in complicated hereditary spastic paraplegia. Journal of Neurology, Neurosurgery & Psychiatry 80 (12), S. 1402-1404. Volltext nicht vorhanden.

Bals-Pratsch, M., Hehr, A., Seifert, B. und Hehr, U. (2009) Geburt nach Eizellvitrifikation und Polkörperdiagnostik für Mukoviszidose. Geburtshilfe und Frauenheilkunde 69 (06), S. 541-544. Volltext nicht vorhanden.

Morsczeck, Christian, Schmalz, Gottfried, Reichert, Torsten Eugen, Völlner, Florian, Saugspier, Michael, Viale-Bouroncle, Sandra und Driemel, Oliver (2009) Gene expression profiles of dental follicle cells before and after osteogenic differentiation in vitro. Clinical Oral Investigations 13 (4), S. 383-391. Volltext nicht vorhanden.

Allikmets, R., Bergen, A., Dean, M.

, Guymer, R.

, Hagemann, G., Klaver, C., Stefansson, K., Weber, Bernhard H. F. und International AMD Genetics Consortium, (2009) Geographic atrophy in age-related macular degeneration and TLR3. The New England Journal of Medicine 360 (21), S. 2251-2254. Volltext nicht vorhanden.

Ebenrett, I., Koerber, F., Gabriel, H., Hehr, U., Heller, R. und Hoopmann, M. (2009) Gezielte genetische Diagnostik nach Ersttrimester-Ultraschallscreening bei letaler fetaler Skelettdysplasie. Geburtshilfe und Frauenheilkunde 69 (03), S. 244-247. Volltext nicht vorhanden.

Pasutto, F., Matsumoto, T., Mardin, C. Y., Sticht, H.

, Brandstätter, J. H., Michels-Rautenstrauss, K., Weisschuh, N., Gramer, E., Ramdas, W. D.

, van Koolwijk, L. M., Klaver, C. C.

, Vingerling, J. R., Weber, Bernhard H. F.

, Kruse, F. E., Rautenstrauss, B.

, Barde, Y.-A.

und Reis, A.

(2009) Heterozygous NTF4 Mutations Impairing Neurotrophin-4 Signaling in Patients with Primary Open-Angle Glaucoma. The American Journal of Human Genetics 85 (4), S. 447-456. Volltext nicht vorhanden.

Mauerer, Richard, Ebert, Stefanie und Langmann, Thomas (2009) High glucose, unsaturated and saturated fatty acids differentially regulate expression of ATP-binding cassette transporters ABCA1 and ABCG1 in human macrophages. Experimental and Molecular Medicine 41 (2), S. 126. Volltext nicht vorhanden.

Bauer, Peter, Winner, Beate

, Schüle, Rebecca, Bauer, Claudia, Häfele, Veronika, Hehr, Ute, Bonin, Michael, Walter, Michael

, Karle, Kathrin, Ringer, Thomas M., Rieß, Olaf, Winkler, Jürgen und Schöls, Ludger (2009) Identification of a heterozygous genomic deletion in the spatacsin gene in SPG11 patients using high-resolution comparative genomic hybridization. neurogenetics 10 (1), S. 43-48. Volltext nicht vorhanden.

Babilas, Philipp, Fiebig, B. S., Aslanidis, C., Hansen, J., Röcken, C., Schroeder, J., Schmitz, G., Weber, Bernhard H. F.

, Landthaler, Michael und Vogt, T. (2009) Identification of an oncostatin M receptor mutation associated with familial primary cutaneous amyloidosis. British Journal of Dermatology 161, S. 944-947. Volltext nicht vorhanden.

Langmann, Thomas, Ebert, Stefanie, Walcak, Y., Weigelt, K., Ehrengruber, M. U., Stiewe, T.

und Weber, Bernhard H. F.

(2009) Induction of Early Growth Response-1 Mediates Microglia Activation In Vitro But is Dispensable In Vivo. NeuroMolecular Medicine 11, S. 87-96. Volltext nicht vorhanden.

Stoecker, Katharina, Weigelt, Karin, Ebert, Stefanie, Karlstetter, Marcus, Walczak, Yana und Langmann, Thomas (2009) Induction of STAP-1 promotes neurotoxic activation of microglia. Biochemical and Biophysical Research Communications 379 (1), S. 121-126. Volltext nicht vorhanden.

Kellner, S., Kellner, U., Weber, Bernhard H. F.

, Fiebig, B., Weinitz, S. und Ruether, K. (2009) Lipofuscin- and melanin-related fundus autofluorescence in patients with ABCA4-associated retinal dystrophies. American Journal of Ophthalmology 147 (5), S. 895-902. Volltext nicht vorhanden.

Kellner, U., Kellner, S., Weber, Bernhard H. F.

, Fiebig, B., Weinitz, S. und Ruether, K. (2009) Lipofuscin- and melanin-related fundus autofluorescence visualize different retinal pigment epithelial alterations in patients with retinitis pigmentosa. Eye (Lond) 23 (6), S. 1349-1359. Volltext nicht vorhanden.

Schell‐Apacik, Chayim Can, Ertl‐Wagner, Birgit, Panzel, Axel, Klausener, Kerstin, Rausch, Gisbert, Muenke, Maximilian

, von Voss, Hubertus und Hehr, Ute (2009) Maternally inherited heterozygous sequence change in the sonic hedgehog gene in a male patient with bilateral closed‐lip schizencephaly and partial absence of the corpus callosum. American Journal of Medical Genetics Part A 149A (7), S. 1592-1594. Volltext nicht vorhanden.

Wieczorek, Dagmar, Gener, Blanca, González, Ma Jesús Martínez, Seland, Saskia, Fischer, Sven, Hehr, Ute, Kuechler, Alma, Hoefsloot, Lies H., de Leeuw, Nicole, Gillessen‐Kaesbach, Gabriele und Lohmann, Dietmar R.

(2009) Microcephaly, microtia, preauricular tags, choanal atresia and developmental delay in three unrelated patients: A mandibulofacial dysostosis distinct from Treacher Collins syndrome. American Journal of Medical Genetics Part A 149A (5), S. 837-843. Volltext nicht vorhanden.

Cullen, Paul, Funke, Harald, Klein, Hanns-Georg, Langmann, Thomas, Miethke, Thomas, Neumaier, Michael und Sauter, Guido (2009) Multiparametrische Diagnostik in der Pathologie / Multiparametric diagnostic methods in pathology. LaboratoriumsMedizin 33 (3), S. 147-152. Volltext nicht vorhanden.

Hartmaier, R. J.

, Tchatchou, S., Richter, A. S., Wang, J., McGuire, S. E., Skaar, T. C., Rae, J. M., Hemminki, K., Sutter, C., Ditsch, N., Bugert, P., Weber, Bernhard H. F.

, Niederacher, D., Arnold, N.

, Varon-Mateeva, R., Wappenschmidt, B., Schmutzler, R. K., Meindl, A., Bartram, C. R., Burwinkel, B. und Oesterreich, S. (2009) Nuclear receptor coregulator SNP discovery and impact on breast cancer risk. BMC Cancer 9, S. 438. Volltext nicht vorhanden.

Judaš, M., Sedmak, G.

, Radoš, M., Sarnavka, V., Fumić, K., Willer, T., Gross, C., Hehr, U., Strahl, S., Ćuk, M. und Barić, I. (2009) POMT1-Associated Walker-Warburg Syndrome: A Disorder of Dendritic Development of Neocortical Neurons. Neuropediatrics 40 (01), S. 6-14. Volltext nicht vorhanden.

Renner, A. B., Fiebig, B., Weber, Bernhard H. F.

, Wissinger, B., Andreasson, S., Gal, A., Cropp, E., Kohl, S.

und Kellner, U. (2009) Phenotypic variability and long-term follow-up of patients with known and novel PRPH2/RDS gene mutations. American Journal of Ophthalmology 147 (3), S. 518-530. Volltext nicht vorhanden.

Yang, R., Chen, B., Hemminki, K., Wappenschmidt, B., Engel, C.

, Sutter, C., Ditsch, N., Weber, Bernhard H. F.

, Niederacher, D., Arnold, N.

, Meindl, A., Bartram, C., Schmutzler, R. und Burwinkel, B. (2009) Polymorphisms in BRCA2 resulting in aberrant codon-usage and their analysis on familial breast cancer risk. Breast Cancer Research and Treatment 118 (2), S. 407-413. Volltext nicht vorhanden.

de Lima, Renata L. L. Ferreira, Hoper, Sarah A., Ghassibe, Michella, Cooper, Margaret E., Rorick, Nicholas K., Kondo, Shinji, Katz, Lori, Marazita, Mary L., Compton, John, Bale, Sherri, Hehr, Ute, Dixon, Michael J., Daack-Hirsch, Sandra

, Boute, Odile, Bayet, Bénédicte, Revencu, Nicole, Verellen-Dumoulin, Christine, Vikkula, Miikka

, Richieri-Costa, Antônio, Moretti-Ferreira, Danilo

, Murray, Jeffrey C. und Schutte, Brian C. (2009) Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome. Genetics in Medicine 11 (4), S. 241-247. Volltext nicht vorhanden.

Renner, Agnes B., Fiebig, B. S., Cropp, E., Weber, Bernhard H. F.

und Kellner, U. (2009) Progression of Retinal Pigment Epithelial Alterations During Long-term Follow-up in Female Carriers of Choroideremia and Report of a Novel CHM Mutation. Acta Ophthalmologica 127, S. 907-912. Volltext nicht vorhanden.

Morsczeck, Christian, Petersen, Jørgen, Völlner, Florian, Driemel, Oliver, Reichert, Torsten und Beck, Hans Christian

(2009) Proteomic analysis of osteogenic differentiation of dental follicle precursor cells. ELECTROPHORESIS 30 (7), S. 1175-1184. Volltext nicht vorhanden.

Förster, Johanna R., Lochnit, Günter und Stöhr, Heidi (2009) Proteomic analysis of the membrane palmitoylated protein-4 (MPP4)-associated protein complex in the retina. Experimental Eye Research 88 (1), S. 39-48. Volltext nicht vorhanden.

Qi, J. H., Dai, G., Luthert, P.

, Chaurasia, S., Hollyfield, J., Weber, Bernhard H. F.

, Stöhr, H. und Anand-Apte, B. (2009) S156C mutation in tissue inhibitor of metalloproteinases-3 induces increased angiogenesis. The Journal of Biological Chemistry 284, S. 19927-19936.

Gnewuch, Carsten, Liebisch, Gerhard

, Langmann, Thomas, Dieplinger, Benjamin, Mueller, Thomas, Haltmayer, Meinhard, Dieplinger, Hans, Zahn, Alexandra, Stremmel, Wolfgang, Rogler, Gerhard

und Schmitz, Gerd

(2009) Serum bile acid profiling reflects enterohepatic detoxification state and intestinal barrier function in inflammatory bowel disease. World Journal of Gastroenterology 15 (25), S. 3134. Volltext nicht vorhanden.

Siebzehnrubl, Florian A.

, Jeske, Ina, Müller, Dorit, Buslei, Rolf, Coras, Roland, Hahnen, Eric, Huttner, Hagen B., Corbeil, Denis

, Kaesbauer, Johanna, Appl, Thomas, Von Hörsten, Stephan und Blümcke, Ingmar (2009) Spontaneous In Vitro Transformation of Adult Neural Precursors into Stem‐Like Cancer Cells. Brain Pathology 19 (3), S. 399-408. Volltext nicht vorhanden.

Stöhr, H., Heisig, J. B., Benz, P. M., Schöberl, S., Milenkovic, V. M., Strauss, O., Aartsen, W., Wijnholds, J.

, Weber, Bernhard H. F.

und Schulz, H. L. (2009) TMEM16B, a novel protein with calcium-dependent chloride channel activity, associates with a presynaptic protein complex in photoreceptor terminals. The Journal of Neuroscience 29 (21), S. 6809-6818.

Allikmets, R., Dean, M.

, Hageman, G. S., Baird, P. N.

, Klaver, C. C.

, Bergen, A. A., Weber, Bernhard H. F.

und International AMD Genetics Consortium, (2009) The SERPING1 gene and age-related macular degeneration. The Lancet 374 (9693), S. 875-876. Volltext nicht vorhanden.

Roessler, Erich, El-Jaick, Kenia B.

, Dubourg, Christèle, Vélez, Jorge I.

, Solomon, Benjamin D., Pineda-Álvarez, Daniel E., Lacbawan, Felicitas, Zhou, Nan, Ouspenskaia, Maia, Paulussen, Aimée, Smeets, Hubert J., Hehr, Ute, Bendavid, Claude, Bale, Sherri, Odent, Sylvie, David, Véronique und Muenke, Maximilian

(2009) The mutational spectrum of holoprosencephaly-associated changes within theSHHgene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis. Human Mutation 30 (10), E921-E935. Volltext nicht vorhanden.

Weigelt, Karin, Lichtinger, Monika, Rehli, Michael

und Langmann, Thomas (2009) Transcriptomic profiling identifies a PU.1 regulatory network in macrophages. Biochemical and Biophysical Research Communications 380 (2), S. 308-312. Volltext nicht vorhanden.

Farwick, A., Dasch, B., Weber, Bernhard H. F.

, Pauleikhoff, D., Stoll, M. und Hense, H. W. (2009) Variations in five genes and the severity of age-related macular degeneration: - results from the Muenster aging and retina study. Eye (Lond) 23 (12), S. 2238-2244. Volltext nicht vorhanden.

Bohring, Axel, Stamm, Thomas, Spaich, Christiane, Haase, Claudia, Spree, Kerstin, Hehr, Ute, Hoffmann, Mandy, Ledig, Susanne, Sel, Saadettin

, Wieacker, Peter und Röpke, Albrecht (2009) WNT10A Mutations Are a Frequent Cause of a Broad Spectrum of Ectodermal Dysplasias with Sex-Biased Manifestation Pattern in Heterozygotes. The American Journal of Human Genetics 85 (1), S. 97-105. Volltext nicht vorhanden.

Van den Brulle, Jan, Fischer, Markus, Langmann, Thomas, Horn, Gudrun, Waldmann, Thomas, Arnold, Stefan, Fuhrmann, Markus, Schatz, Octavian, O'Connell, Tim, O'Connell, Daniela, Auckenthaler, Alexandra und Schwer, Heinz (2008) A novel solid phase technology for high-throughput gene synthesis. BioTechniques 45 (3), S. 340-3. Volltext nicht vorhanden.

Janssen, A., Hoellenriegel, J., Fogarasi, M., Schrewe, H., Seeliger, M., Tamm, Ernst R.

, Ohlmann, Andreas

, May, C. A.

, Weber, Bernhard H. F.

und Stöhr, Heidi (2008) Abnormal vessel formation in the choroid of mice lacking tissue inhibitor of metalloprotease-3. Investigative Ophthalmology & Visual Science (IOVS) 49, S. 2812-2822. Volltext nicht vorhanden.

Michalk, Anne, Stricker, Sigmar

, Becker, Jutta, Rupps, Rosemarie, Pantzar, Tapio, Miertus, Jan, Botta, Giovanni, Naretto, Valeria G., Janetzki, Catrin, Yaqoob, Nausheen, Ott, Claus-Eric

, Seelow, Dominik

, Wieczorek, Dagmar, Fiebig, Britta, Wirth, Brunhilde, Hoopmann, Markus, Walther, Marisa, Körber, Friederike, Blankenburg, Markus, Mundlos, Stefan, Heller, Raoul und Hoffmann, Katrin (2008) Acetylcholine Receptor Pathway Mutations Explain Various Fetal Akinesia Deformation Sequence Disorders. The American Journal of Human Genetics 82 (2), S. 464-476. Volltext nicht vorhanden.

Fritsche, L. G.

, Loenhardt, T., Janssen, A., Fisher, S. A., Rivera, A., Keilhauer, C. N. und Weber, Bernhard H. F.

(2008) Age-related macular degeneration is associated with an unstable ARMS2 (LOC387715) mRNA. Nature Genetics 40, S. 892-896. Volltext nicht vorhanden.

Weigelt, K., Moehle, C., Stempfl, T., Weber, Bernhard H. F.

und Langmann, T. (2008) An integrated workflow for analysis of ChIP-chip data. BioTechniques 45 (2), S. 131-140. Volltext nicht vorhanden.

Pasutto, F., Krumbiegel, M., Mardin, C. Y., Paoli, D., Lämmer, R.

, Weber, Bernhard H. F.

, Kruse, F. E., Schlötzer-Schrehardt, U. und Reis, A.

(2008) Association of LOXL1 common sequence variants in German and Italian patients with pseudoexfoliation syndrome and pseudoexfoliation glaucoma. Investigative ophthalmology and visual science 49 (4), S. 1459-1463.

Langmann, Thomas, Lai, C. C., Weigelt, K., Tam, B. M., Warneke-Wittstock, R., Moritz, O. L.

und Weber, Bernhard H. F.

(2008) CRX controls retinal expression of the X-linked juvenile retinoschisis (RS1) gene. Nucleic Acids Research 36, S. 6523-6334.

Ebert, Stefanie, Schoeberl, Tobias, Walczak, Yana, Stoecker, Katharina, Stempfl, Thomas, Moehle, Christoph, Weber, Bernhard H. F.

und Langmann, Thomas (2008) Chondroitin sulfate disaccharide stimulates microglia to adopt a novel regulatory phenotype. Journal of Leukocyte Biology 84, S. 736-740. Volltext nicht vorhanden.

Renner, A. B., Kellner, U., Fiebig, B., Cropp, E., Foerster, M. H. und Weber, Bernhard H. F.

(2008) ERG variability in X-linked congenital retinoschisis patients with mutations in the RS1 gene and the diagnostic importance of fundus autofluorescence and OCT. Documenta Ophthalmologica 116 (2), S. 97-109. Volltext nicht vorhanden.

Janssen, A., Min, S. H., Molday, L. ., Tanimoto, N., Seeliger, N. W., Hauswirth, W. W., Molday, R. S. und Weber, Bernhard H. F.

(2008) Effect of Late-stage Therapy on Disease Progression in AAV-mediated Rescue of Photoreceptor Cells in the Retinoschisin-deficient Mouse. Molecular Therapy 16, S. 1010-1017.

Cullen, Paul, Funke, Harald, Klein, Hanns-Georg, Langmann, Thomas und Neumaier, Michael (2008) Einsatz der Genchiptechnologie in der Erregerdiagnostik / Use of DNA microarrays in microbiological diagnostics. LaboratoriumsMedizin 32 (5), S. 317-320. Volltext nicht vorhanden.

Hendig, Doris

, Langmann, Thomas, Kocken, Sarah, Zarbock, Ralf, Szliska, Christiane, Schmitz, Gerd, Kleesiek, Knut und Götting, Christian (2008) Gene expression profiling of ABC transporters in dermal fibroblasts of pseudoxanthoma elasticum patients identifies new candidates involved in PXE pathogenesis. Laboratory Investigation 88 (12), S. 1303-1315. Volltext nicht vorhanden.

Schwarz, Stephan, Butz, Martin, Morsczeck, Christian, Reichert, Torsten E. und Driemel, Oliver (2008) Increased number of CD25+ FoxP3+ regulatory T cells in oral squamous cell carcinomas detected by chromogenic immunohistochemical double staining. Journal of Oral Pathology & Medicine 37 (8), S. 485-489. Volltext nicht vorhanden.

Fogarasi, Marton, Janssen, A., Weber, Bernhard H. F.

und Stöhr, Heidi (2008) Molecular dissection of TIMP3 mutation S156C associated with Sorsby fundus dystrophy. Matrix Biology 27, S. 381-392. Volltext nicht vorhanden.

Milenkovic, Vladimir M., Langmann, Thomas, Schreiber, Rainer, Kunzelmann, Karl

und Weber, Bernhard H. F.

(2008) Molecular evolution and functional divergence of the bestrophin protein family. BMC Evolutionary Biology 8, S. 72.

Florian, Christian, Langmann, Thomas, Weber, Bernhard H. F.

und Morsczeck, Christian (2008) Murine Müller cells are progenitor cells for neuronal cells and fibrous tissue cells. Biochemical and Biophysical Research Communications 374, S. 187-191. Volltext nicht vorhanden.

Paragh, György, Schling, Petra, Ugocsai, Peter, Kel, Alexander E., Liebisch, Gerhard

, Heimerl, Susanne, Moehle, Christoph, Schiemann, Yvonne, Wegmann, Michael, Farwick, Mike, Wikonkál, Norbert M., Mandl, József, Langmann, Thomas und Schmitz, Gerd

(2008) Novel sphingolipid derivatives promote keratinocyte differentiation. Experimental Dermatology 17 (12), S. 1004-1016. Volltext nicht vorhanden.

Decker, W., Stellzig-Eisenhauer, A., Fiebig, B. S., Rau, C., Kress, W., Saar, K.

, Rüschendorf, F., Hubner, N., Grimm, T. und Weber, Bernhard H. F.

(2008) PTHR1 loss-of-function mutations in familial, nonsyndromic primary failure of tooth eruption. American Journal of Human Genetics 83, S. 781-786. Volltext nicht vorhanden.

Pasutto, F., Mardin, C. Y., Michels-Rautenstrauss, K., Weber, Bernhard H. F.

, Sticht, H.

, Chavarria-Soley, G., Rautenstrauss, B., Kruse, F. und Reis, A.

(2008) Profiling of WDR36 missense variants in German patients with glaucoma. Investigative ophthalmology and visual science 49 (1), S. 270-274.

Yang, R., Frank, B., Hemminki, K., Bartram, C. R., Wappenschmidt, B., Sutter, C., Kiechle, M., Bugert, P., Schmutzler, R. K., Arnold, N.

, Weber, Bernhard H. F.

, Niederacher, D., Meindl, A. und Burwinkel, B. (2008) SNPs in ultraconserved elements and familial breast Cancer Risk. Carcinogenesis 29 (2), S. 351-355. Volltext nicht vorhanden.

Morsczeck, Christian, Schmalz, Gottfried, Reichert, Torsten Eugen, Völlner, Florian, Galler, Kerstin und Driemel, Oliver (2008) Somatic stem cells for regenerative dentistry. Clinical Oral Investigations 12 (2), S. 113-118. Volltext nicht vorhanden.

Scholl, H. P., Charbel Issa, P., Walier, M., Janzer, S., Pollok-Kopp, B., Börncke, F., Fritsche, L. G.

, Chong, N. V.

, Fimmers, R., Wienker, T., Holz, F. G., Weber, Bernhard H. F.

und Oppermann, M. (2008) Systemic complement activation in age-related macular degeneration. PLoS one 3 (7), e2593.

Roesch, Alexander, Becker, Bernd, Bentink, Stefan, Spang, Rainer, Vogl, Annegret, Hagen, Ilja, Landthaler, Michael und Vogt, Thomas (2007) Ataxia telangiectasia-mutated gene is a possible biomarker for discrimination of infiltrative deep penetrating nevi and metastatic vertical growth phase melanoma. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Prevention 16 (11), S. 2486-2490. Volltext nicht vorhanden.

Yis, Uluç, Uyanik, Gökhan, Kurul, Semra, Dirik, Eray, Özer, Erdener, Gross, Claudia und Hehr, Ute (2007) A case of Walker–Warburg syndrome resulting from a homozygous POMT1 mutation. European Journal of Paediatric Neurology 11 (1), S. 46-49. Volltext nicht vorhanden.

Scholl, H. P., Fleckenstein, M., Issa, P. C., Keilhauer, C., Holz, F. G. und Weber, Bernhard H. F.

(2007) An update on the genetics of age-related macular degeneration. Molecular vision 13, S. 196-205.

Fisher, S. A., Rivera, A., Fritsche, L. G.

, Babadjanova, G., Petrov, S. und Weber, Bernhard H. F.

(2007) Assessment of the contribution of CFH and chromosome 10q26 AMD susceptibility loci in a Russian population isolate. British Journal of Ophthalmology 91 (5), S. 576-578. Volltext nicht vorhanden.

Fisher, S. A., Rivera, A., Fritsche, L. G., Keilhauer, C. N., Lichtner, P., Meitinger, T.

, Rudolph, G. und Weber, Bernhard H. F. (2007) Case–control genetic association study of fibulin-6 (FBLN6 or HMCN1) variants in age-related macular degeneration (AMD). Human Mutation 28 (4), S. 406-413. Volltext nicht vorhanden.

Lommatzsch, Albrecht, Hermans, Pia, Weber, Bernhard und Pauleikhoff, Daniel (2007) Complement factor H variant Y402H and basal laminar deposits in exudative age-related macular degeneration. Graefe's Archive for Clinical and Experimental Ophthalmology 245 (11), S. 1713-1716. Volltext nicht vorhanden.

Weigelt, K., Ernst, W., Walczak, Yana, Ebert, Stefanie, Loenhardt, T., Klug, Maja, Rehli, Michael

, Weber, Bernhard H. F.

und make_name_string expected hash reference (2007) Dap12 expression in activated microglia from retinoschisin-deficient retina and its PU.1-dependent promoter regulation. Journal of Leukocyte Biology (JLB) 82, S. 1564-1574. Volltext nicht vorhanden.

Skerka, C., Lauer, N., Weinberger, A. W. A., Keilhauer, C. N., Sühnel, J., Smith, R.

, Schlötzer-Schrehardt, U., Fritsche, L.

, Heinen, S.

, Hartmann, A., Weber, Bernhard H. F.

und Zipfel, P. F. (2007) Defective complement control of Factor H (Y402H) and FHL-1 in age-related macular degeneration. Molecular Immunology 44 (13), S. 3398-3406. Volltext nicht vorhanden.

Skerka, Christine, Lauer, Nadine, Keilhauer, Claudia N., Fritsche, Lars, Weber, Bernhard H.F. und Zipfel, Peter F. (2007) Defective complement control of factor H (Y402H) and FHL-1 in age-related macular degeneration. Molecular Immunology 44 (16), S. 3914. Volltext nicht vorhanden.

Wieczorek, Dagmar, Shaw‐Smith, Charles, Kohlhase, Jürgen, Schmitt, Wolfgang, Buiting, Karin, Coffey, Alison, Howard, Eleanor, Hehr, Ute und Gillessen‐Kaesbach, Gabriele (2007) Esophageal atresia, hypoplasia of zygomatic complex, microcephaly, cup‐shaped ears, congenital heart defect, and mental retardation—New MCA/MR syndrome in two affected sibs and a mildly affected mother? American Journal of Medical Genetics Part A 143A (11), S. 1135-1142. Volltext nicht vorhanden.

Manvelyan, M., Schreyer, I., Höls-Herpertz, I., Köhler, S., Niemann, R., Hehr, U., Belitz, B., Bartels, I., Götz, J., Huhle, D., Kossakiewicz, M., Tittelbach, H., Neubauer, S., Polityko, A., Mazauric, M.-L., Wegner, R., Stumm, M., Küpferling, P., Süss, F., Kunze, H., Weise, A., Liehr, T. und Mrasek, K. (2007) Forty-eight new cases with infertility due to balanced chromosomal rearrangements: Detailed molecular cytogenetic analysis of the 90 involved breakpoints. International Journal of Molecular Medicine. Volltext nicht vorhanden.

Gehrig, A., Langmann, T., Horling, F., Janssen, A., Bonin, M., Walter, M.

, Poths, S. und Weber, Bernhard H. F.

(2007) Genome-wide expression profiling of the retinoschisin-deficient retina in early postnatal mouse development. Investigative ophthalmology and visual science 48 (2), S. 891-900.

Milenkovic, Vladimir M., Rivera, A., Horling, F. und Weber, Bernhard H. F.

(2007) Insertion and topology of normal and mutant bestrophin-1 in the endoplasmic reticulum membrane. The Journal of Biological Chemistry 282, S. 1313-1321. Volltext nicht vorhanden.

Hehr, Ute, Bauer, Peter, Winner, Beate

, Bogdahn, Ulrich

, make_name_string expected hash reference, make_name_string expected hash reference

, make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference und make_name_string expected hash reference (2007) Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia. Annals of Neurology 27, S. 381-392. Volltext nicht vorhanden.

Langmann, Thomas (2007) Microglia activation in retinal degeneration. Journal of Leukocyte Biology 81 (6), S. 1345-1351. Volltext nicht vorhanden.

Skerka, Christine, Lauer, Nadine, Hartmann, Andrea, Heinen, Stefan, Schlötzer-Schrehardt, Ursula, Weinberger, Andreas W.A., Keilhauer, Claudia, Suehnel, Juergen, Weber, Bernhard H.F. und Zipfel, Peter F. (2007) Mutation in factor H (Y402H) associated with age related macular degeneration (AMD) results in reduced binding activities. Molecular Immunology 44 (1-3), S. 241-242. Volltext nicht vorhanden.

Hehr, Ute, Uyanik, Goekhan, Gross, Claudia, Walter, Maggie C., Bohring, Axel, Cohen, Monika, Oehl-Jaschkowitz, Barbara, Bird, Lynne M.

, Shamdeen, Ghiat M., Bogdahn, Ulrich, Schuierer, Gerhard, Topaloglu, Haluk, Aigner, Ludwig, Lochmüller, Hanns und Winkler, Jürgen (2007) Novel POMGnT1 mutations define broader phenotypic spectrum of muscle–eye–brain disease. Neurogenetics 8 (4), S. 279-288. Volltext nicht vorhanden.

Vaclavicek, A., Bermejo, J. L., Schmutzler, R. K., Sutter, C., Wappenschmidt, B., Meindl, A., Kiechle, M., Arnold, N.

, Weber, Bernhard H. F.

, Niederacher, D., Burwinkel, B., Bartram, C. R., Hemminki, K. und Försti, A. (2007) Polymorphisms in the Janus kinase 2 (JAK)/signal transducer and activator of transcription (STAT) genes: putative association of the STAT gene region with familial breast cancer. Endocrine related cancer 14 (2), S. 267-277. Volltext nicht vorhanden.

Reinhard, J., Messias, A.

, Dietz, K.

, Mackeben, M., Lakmann, R., Scholl, H. P., Apfelstedt-Sylla, E., Weber, Bernhard H. F.

, Seeliger, M. W., Zrenner, E. und Trauzettel-Klosinski, S. (2007) Quantifying fixation in patients with Stargardt disease. Vision Research 47 (15), S. 2076-2085. Volltext nicht vorhanden.

Wirtenberger, M., Schmutzhard, J., Hemminki, K., Meindl, A., Sutter, C., Schmutzler, R. K., Wappenschmidt, B., Kiechle, M., Arnold, A.

, Weber, Bernhard H. F.

, Niederacher, D., Bartram, C. R. und Burwinkel, B. (2007) The functional genetic variant Ile646Val located in the kinase binding domain of the A kinase anchoring protein 10 is associated with familial breast cancer. Carcinogenesis 28 (2), S. 423-426. Volltext nicht vorhanden.

Stojic, J., Stöhr, H. und Weber, Bernhard H. F.

(2007) Three novel ABCC5 splice variants in human retina and their role as regulators of ABCC5 gene expression. BMC Molecular Biology 8, S. 42.

Morsczeck, Christian, Korenkov, Michael, Nagelschmidt, Manfred, Feher, Domonkos und Michael Schierholz, Jörg (2007) Total RNA‐Isolation of Abdominal Hernia of Rats for Quantitative Real‐Time Reverse Transcription (RT) PCR Assays. Preparative Biochemistry and Biotechnology 38 (1), S. 87-93. Volltext nicht vorhanden.

Wirtenberger, Michael, Tchatchou, Sandrine, Hemminki, Kari, Schmutzhard, Julia, Sutter, Christian, Schmutzler, Rita K., Meindl, Alfons, Wappenschmidt, Barbara, Kiechle, Marion, Arnold, Norbert

, Weber, Bernhard H. F., Niederacher, Dieter, Bartram, Claus R. und Burwinkel, Barbara (2006) Associations of genetic variants in the estrogen receptor coactivators PPARGC1A, PPARGC1B and EP300 with familial breast cancer. Carcinogenesis 27 (11), S. 2201-2208. Zugang zum Volltext eingeschränkt.

Wirtenberger, Michael, Frank, Bernd, Hemminki, Kari, Klaes, Rüdiger, Schmutzler, Rita K., Wappenschmidt, Barbara, Meindl, Alfons, Kiechle, Marion, Arnold, Norbert

, Weber, Bernhard H. F.

, Niederacher, Dieter, Bartram, Claus R. und Burwinkel, Barbara (2006) Interaction of Werner and Bloom syndrome genes with p53 in familial breast cancer. Carcinogenesis 27 (8), S. 1655-1660. Zugang zum Volltext eingeschränkt.

Uyanik, G., Elcioglu, N., Penzien, J., Gross, C., Yilmaz, Y., Olmez, A., Demir, E., Wahl, D., Scheglmann, K., Winner, B.

, Bogdahn, U., Topaloglu, H., Hehr, U. und Winkler, J. (2006) Novel truncating and missense mutations of the KCC3 gene associated with Andermann syndrome. Neurology 66 (7), S. 1044-1048. Zugang zum Volltext eingeschränkt.

Metzger, Silke, Bauer, Peter, Tomiuk, Juergen, Laccone, Franco, Didonato, Stefano, Gellera, Cinzia, Soliveri, Paola, Lange, Herwig W., Weirich-Schwaiger, Helga, Wenning, Gregor K., Melegh, Bela, Havasi, Victoria, Balikó, Lazlo, Wieczorek, Stefan, Arning, Larissa, Zaremba, Jacek

, Sulek, Anna

, Hoffman-Zacharska, Dorota, Basak, A. Nazli, Ersoy, Nagehan, Zidovska, Jana, Kebrdlova, Vera, Pandolfo, Massimo, Ribaï, Pascale, Kadasi, Ludovit, Kvasnicova, Marta, Weber, Bernhard H. F., Kreuz, Friedmar, Dose, Matthias, Stuhrmann, Manfred und Riess, Olaf (2006) The S18Y polymorphism in the UCHL1 gene is a genetic modifier in Huntington's disease. Neurogenetics 7 (1), S. 27-30. Zugang zum Volltext eingeschränkt.

Hehr, U (2006) A filamin A splice mutation resulting in a syndrome of facial dysmorphism, periventricular nodular heterotopia, and severe constipation reminiscent of cerebro-fronto-facial syndrome. Journal of Medical Genetics 43 (6), S. 541-544. Volltext nicht vorhanden.

Keilhauer, C. N., Meigen, T. und Weber, Bernhard H. F.

(2006) Clinical findings in a multigeneration family with autosomal dominant central areolar choroidal dystrophy associated with an Arg195Leu mutation in the peripherin/RDS gene. Archives of Ophthalmology 124 (7), S. 1020-1027. Volltext nicht vorhanden.

Gadzicki, D., Wingen, L. U., Teige, B., Horn, D. W., Bosse, K., Kreuz, F., Goecke, T., Schäfer, D., Voigtländer, T., Fischer, B., Froster, U., Welling, B., Debatin, I., Weber, Bernhard H. F.

und et, al. (2006) Communicating BRCA1 and BRCA2 genetic test results. Journal of clinical oncology 24 (18), S. 2969-2970. Volltext nicht vorhanden.

Molday, L. L., Min, S. H., Seeliger, M. W., Wu, W. W., Dinculescu, A., Timmers, A. M., Janssen, A., Tonagel, F., Hudl, K., Weber, Bernhard H. F.

, Hauswirth, W. W. und Molday, R. S. (2006) Disease mechanisms and gene therapy in a mouse model for x-linked retinoschisis. Advances in experimental medicine and biology 572, S. 283-289. Volltext nicht vorhanden.

Ölmez, A., Uyanik, G., Özgül, R.

, Gross, C., Cirak, S., Elibol, B., Anlar, B.

, Winner, B.

, Hehr, U., Topaloglu, H. und Winkler, J. (2006) Further Clinical and Genetic Characterization of SPG11: Hereditary Spastic Paraplegia with Thin Corpus Callosum. Neuropediatrics 37 (2), S. 59-66. Volltext nicht vorhanden.

Metzger, S., Bauer, P., Tomiuk, J., Laccone, F., Weber, Bernhard H. F.

, DiDonato, S., Gellera, C., Mariotti, C., Lange, H. W., Weirich-Schwaiger, H., Wenning, G. K., Seppi, K., Melegh, B., Havasi, V., Balikó, L., Wieczorek, S. und et, al. (2006) Genetic analysis of candidate genes modifying the age-at-onset in Huntington’s disease. Human Genetics 120 (2), S. 285-292. Volltext nicht vorhanden.

Preisler-Adams, S., Schönbuchner, I., Fiebig, B., Welling, B., Dworniczak, B. und Weber, Bernhard H. F.

(2006) Gross rearrangements in BRCA1 but not BRCA2 play a notable role in predisposition to breast and ovarian cancer in high-risk families of German origin. Cancer Genetics and Cytogenetics 168 (1), S. 44-49. Volltext nicht vorhanden.

Keilhauer, C. N., Meigen, T., Stöhr, H. und Weber, Bernhard H. F.

(2006) Late onset central areolar choroidal dystrophy caused by a heterozygous frame-shift mutation affecting codon 307 of the peripherin/RDS gene. Ophthalmic Genetics 27, S. 139-144. Volltext nicht vorhanden.

Schara, U., Kress, W., Vorgerd, M., Gross, C., Winkler, J., Hehr, U., Mortier, W. und Uyanik, G. (2006) P.P.4 07 Phenotype and muscle biopsy findings in the first German patient with limb-girdle muscular dystrophy 2K – Important differential diagnosis of Becker muscular dystrophy. Neuromuscular Disorders 16 (9-10), S. 680. Volltext nicht vorhanden.

Gehrig, A., Janssen, A., Horling, F., Grimm, C. und Weber, Bernhard H. F.

(2006) The role of caspases in photoreceptor cell death of the retinoschisin-deficient mouse. Cytogenetic and Genome Research 115, S. 35-44. Volltext nicht vorhanden.

Winner, Beate

, Gross, Claudia, Uyanik, Gökhan, Schulte-Mattler, Wilhelm, Lürding, Ralf, Marienhagen, Jörg, Bogdahn, Ulrich, Windpassinger, Christian, Hehr, Ute und Winkler, Jürgen (2006) Thin corpus callosum and amyotrophy in spastic paraplegia—Case report and review of literature. Clinical Neurology and Neurosurgery 108 (7), S. 692-698. Volltext nicht vorhanden.

Balci, Burcu, Uyanik, Gökhan, Dincer, Pervin, Gross, Claudia, Willer, Tobias, Talim, Beril, Haliloglu, Göknur, Kale, Gülsev, Hehr, Ute, Winkler, Jürgen und Topaloğlu, Haluk (2005) An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker–Warburg syndrome (WWS) caused by a mutation in the POMT1 gene. Neuromuscular Disorders 15 (4), S. 271-275. Volltext nicht vorhanden.

Nanda, I., Krämer, F., Weber, Bernhard H. F.

, Schempp, W. und Schmid, M. (2005) Comparative mapping of human claudin-1 (CLDN1) in great apes. Cytogenetic and Genome Research 108 (1-3), S. 229-233. Volltext nicht vorhanden.

Wohlrab, Gabriele, Uyanik, Goekhan, Gross, Claudia, Hehr, Ute, Winkler, J�rgen, Schmitt, Bernhard und Boltshauser, Eugen (2005) Familial West syndrome and dystonia caused by an Aristaless related homeobox gene mutation. European Journal of Pediatrics 164 (5), S. 326-328. Volltext nicht vorhanden.

Rivera, A., Fisher, Sheila A., Fritsche, L. G.

, Keilhauer, Claudia N., Lichtner, Peter, Meitinger, Thomas

und Weber, Bernhard H. F.

(2005) Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement factor H to disease risk. Human Molecular Genetics 14, S. 3227-3236. Volltext nicht vorhanden.

Meyer, S., Struffert, T., Uyanik, G., Oehl-Jaschkowitz, B., Hehr, U. und Shamdeen, M. G. (2005) Kongenitale Muskeldystrophie: Muscle-Eye-Brain disease. Klinische Pädiatrie 217 (2), S. 68-69. Volltext nicht vorhanden.

Renner, A. B., Tillack, H., Kraus, H., Kramer, F., Mohr, N., Weber, Bernhard H. F.

, Foerster, M. H. und Kellner, U. (2005) Late Onset is Common in Best Macular Dystrophy Associated with VMD2 Gene Mutations. Ophthalmology 112 (4), S. 586-592. Volltext nicht vorhanden.

Stöhr, H., Molday, L. L., Molday, R. S., Weber, Bernhard H. F.

, Biedermann, B., Reichenbach, A. und Krämer, F. (2005) Membrane-associated guanylate kinase proteins MPP4 and MPP5 associate with Veli3 at distinct intercellular junctions of the neurosensory retina. The Journal of Comparative Neurology 481 (1), S. 31-41.

Fisher, S. A., Abecasis, G. R.

, Yashar, B. M., Zareparsi, S., Swaroop, A.

, Iyengar, S. K., Klein, B. E., Klein, R., Lee, K. E., Majewski, J., Schultz, D. W., Klein, M. L., Seddon, J. M., Santangelo, S. L., Weeks, D. E.

, Conley, Y. P., Mah, T. S., Schmidt, S., Weber, Bernhard H. F., et, al., make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference

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(2005) Meta-analysis of genome scans of age-related macular degeneration. Human Molecular Genetics 14 (15), S. 2257-2264. Volltext nicht vorhanden.

Min, S. H., Molday, L. L., Seeliger, M. W., Dinculescu, A., Timmers, A. M., Janssen, A., Tonagel, F., Tanimoto, N., Weber, Bernhard H. F.

, Molday, R. S. und Hauswirth, W. W. (2005) Prolonged recovery of retinal structure/function after gene therapy in an Rs1h-deficient mouse model of X-linked juvenile retinoschisis. Molecular Therapy 12 (4), S. 644-651.

Stöhr, H., Milenkowic, V. und Weber, Bernhard H. F.

(2005) VMD2 und seine Rolle bei Morbus Best und anderen Retinopathien -- VMD2 and its role in Best's disease and other retinopathies. Der Ophthalmologe 102 (2), S. 116-121. Volltext nicht vorhanden.

Scholl, H. P. N., Weber, Bernhard H. F.

, Nöthen, M. M., Wienker, T. und Holz, F. G. (2005) Y402H-Polymorphismus im Komplementfaktor H und altersabhängige Makuladegeneration (AMD) -- Y402H polymorphism in complement factor H and age-related macula degeneration (AMD). Der Ophthalmologe 102 (11), S. 1029-1035. Volltext nicht vorhanden.

Winner, Beate

, Uyanik, Goekhan, Gross, Claudia, Lange, Max, Schulte-Mattler, Wilhelm, Schuierer, Gerhard, Marienhagen, Joerg, Hehr, Ute und Winkler, Juergen (2004) Clinical Progression and Genetic Analysis in Hereditary Spastic Paraplegia With Thin Corpus Callosum in Spastic Gait Gene 11 (SPG11). Archives of Neurology 61 (1), S. 117. Volltext nicht vorhanden.

Krämer, F., Stöhr, H. und Weber, Bernhard H. F.

(2004) Cloning and characterization of the murine Vmd2 RFP-TM gene family. Cytogenetic and Genome Research 105 (1), S. 107-114. Volltext nicht vorhanden.

Martin*, Peter, Uyanik*, G�khan, Wiemer-Kruel, Adelheid, Schneider, Silvia, Gross, Claudia, Hehr, Ute und Winkler, J�rgen (2004) Different clinical and morphological phenotypes in monozygotic twins with identical DCX mutation. Journal of Neurology 251 (1), S. 108-110. Volltext nicht vorhanden.

Bendig, I., Mohr, N., Krämer, F. und Weber, Bernhard H. F.

(2004) Identification of novel TP53 mutations in familial and sporadic cancer cases of German and Swiss origin. Cancer Genetics and Cytogenetics 154 (1), S. 22-26. Volltext nicht vorhanden.

Schulz, H., Rahman, F. A., Fadl El Moula, F. M., Stojic, J., Gehrig, A. und Weber, Bernhard H. F.

(2004) Identifying differentially expressed genes in the mammalian retina and the retinal pigment epithelium by suppression subtractive hybridization. Cytogenetic and Genome Research 106 (1), S. 74-81. Volltext nicht vorhanden.

Renner, A. B., Tillack, H., Kraus, H., Kohl, S., Wissinger, B., Mohr, N., Weber, Bernhard H. F.

, Kellner, U. und Foerster, M. H. (2004) Morphology and Functional Characteristics in Adult Vitelliform Macular Dystrophy. Retina 24 (6), S. 929-939. Volltext nicht vorhanden.

Wappenschmidt, B., Wardelmann, E., Gehrig, A., Schondorf, T., Maass, N., Bonatz, G., Gassel, A. M., Pietsch, T., Mallmann, P., Weber, Bernhard H. F.

und Schmutzler, R. K. (2004) PTEN mutations do not cause nuclear beta-catenin accumulation in endometrial carcinomas. Human Pathology 35 (10), S. 1260-1265. Volltext nicht vorhanden.

Schulz, H., Götz, T., Kaschkötö, J. und Weber, Bernhard H. F.

(2004) The Retinome - defining a reference transcriptome of the adult mammalian retina/retinal pigment epithelium. BMC Genomics 5, S. 50.

Bauer, P., Laccone, F., Rolfs, A., Wüllner, U., Bösch, S., Peters, H., Liebscher, S., Scheible, M., Epplen, J. T., Weber, Bernhard H. F.

, Holinski-Feder, E., Weirich-Schwaiger, H., Morris-Rosendahl, D. J., Andrich, J. und Riess, O. (2004) Trinucleotide repeat expansion in SCA17/TBP in white patients with Huntington’s disease-like phenotype. Journal of Medical Genetics 41 (3), S. 230-232. Volltext nicht vorhanden.

Stöhr, H., Stojic, J. und Weber, Bernhard H. F.

(2003) Cellular localization of the MPP4 protein in the mammalian retina. Investigative ophthalmology and visual science 44 (12), S. 5067-5074.

Soboleva, G., Geis, B., Schrewe, H. und Weber, Bernhard H. F.

(2003) Sorsby fundus dystrophy mutation Timp3(S156C) affects the morphological and biochemical phenotype but not metalloproteinase homeostasis. Journal of Cellular Physiology 197 (1), S. 149-156. Volltext nicht vorhanden.

Krämer, F., Mohr, N., Kellner, U., Rudolph, G. und Weber, Bernhard H. F.

(2003) Ten novel mutations in VMD2 associated with Best macular dystrophy (BMD). Human Mutation 22 (5), S. 418. Volltext nicht vorhanden.

Seeliger, M. W., Weber, Bernhard H. F.

, Besch, D., Zrenner, E., Schrewe, H. und Mayser, H. (2003) mfERG waveform characteristics in the RS1h mouse model featuring a `negative' ERG. Documenta Ophthalmologica 107 (1), S. 37-44. Volltext nicht vorhanden.

Weber, Bernhard H. F.

, Lin, B., White, K., Kohler, K., Soboleva, G., Herterich, S., Seeliger, M. W., Jaissle, G. B., Grimm, C., Reme, C., Wenzel, A., Asan, E. und Schrewe, H. (2002) A mouse model for Sorsby fundus dystrophy. Investigative ophthalmology and visual science 43 (8), S. 2732-2740.

Stöhr, H., Berger, C., Fröhlich, S. und Weber, Bernhard H. F.

(2002) A novel gene encoding a putative transmembrane protein with two extracellular CUB domains and a low-density lipoprotein class A module: isolation of alternatively spliced isoforms in retina and brain. Gene 286 (2), S. 223-231. Volltext nicht vorhanden.

Scholl, H. P. N., Besch, D., Vonthein, R., Weber, Bernhard H. F.

und Apfelstedt-Sylla, E. (2002) Alterations of slow and fast rod ERG signals in patients with molecularly confirmed Stargardt disease type 1 (STGD1). Investigative ophthalmology and visual science 43 (4), S. 1248-1256.

Thompson, D., Easton, D. F. und Breast Cancer Linkage Consortium, . (2002) Cancer Incidence in BRCA1 Mutation Carriers. Journal of the National Cancer Institute 94 (18), S. 1358-1365. Volltext nicht vorhanden.

Schulz, H. L., Stöhr, H. und Weber, Bernhard H. F.

(2002) Characterization of three novel isoforms of the metabotrobic glutamate receptor 7 (GRM7). Neuroscience Letters 326 (1), S. 37-40. Volltext nicht vorhanden.

Stöhr, H., Mohr, N., Fröhlich, S., Bhattacharya, S. S. und Weber, Bernhard H. F.

(2002) Cloning and characterization of WDR17, a novel WD repeat containing gene on chromosome 4q34. Biochimica et Biophysica Acta - Gene Structure and Expression 1579 (1), S. 18-25. Volltext nicht vorhanden.

Meindl, A., Weber, Bernhard H. F.

und German Consortium for Hereditary Breast and Ovarian Cancer, . (2002) Comprehensive analysis of 989 patients with breast or ovarian cancer provides BRCA1 and BRCA2 mutation profiles and frequencies for the German population. International Journal of Cancer 97 (4), S. 472-480. Volltext nicht vorhanden.

Schulz, H. L., Stöhr, H., White, K., van Driel, M. A., Hoyng, C. B., Cremers, F. und Weber, Bernhard H. F.

(2002) Genomic structure and assessment of the retinally expressed RFamide-related peptide gene in dominant cystoid macular dystrophy. Molecular vision 8, S. 67-71.

Mooy, C. M., Van Den Born, L. I., Baarsma, S., Paridaens, D. A., Kraaijenbrink, T., Bergen, A. und Weber, Bernhard H. F.

(2002) Hereditary X-linked juvenile retinoschisis: a review of the role of müller cells. Archives of Ophthalmology 120 (7), S. 979-984. Volltext nicht vorhanden.

Weber, Bernhard H. F.

, Schrewe, H., Molday, L. L., Gehrig, A., White, K. L., Seeliger, M. W., Jaissle, G. B., Friedburg, C., Tamm, E. und Molday, R. S. (2002) Inactivation of the murine X-linked juvenile retinoschisis gene, Rs1h, suggests a role of retinoschisin in retinal cell layer organization and synaptic structure. Proceedings of the National Academy of Sciences of the United States of America : PNAS 99 (9), S. 6222-6227.

Frisch, I. B., Haag, P., Steffen, H., Weber, Bernhard H. F.

und Holz, F. G. (2002) Kjellin’s syndrome: Fundus autofluorescence, angiographic, and electrophysiologic findings. Ophthalmology 109 (8), S. 1484-1491. Volltext nicht vorhanden.

Rudolph, G., Kalpadakis, P., Haritoglou, C., Rivera, A. und Weber, Bernhard H. F.

(2002) Mutationen im ABCA4-Gen in einer Familie mit Stargardtscher Erkrankung und Retinitis pigmentosa (STGD1/RP19). Klinische Monatsblätter für Augenheilkunde 219 (8), S. 590-596.

Gerth, C., Andrassi-Darida, M., Bock, M., Preising, M. N., Weber, Bernhard H. F.

und Lorenz, B. (2002) Phenotypes of 16 Stargardt macular dystrophy/fundus flavimaculatus patients with known ABCA4 mutations and evaluation of genotype–phenotype correlation. Graefe's Archive for Clinical and Experimental Ophthalmology 240, S. 628-638. Volltext nicht vorhanden.

Maugeri, A., Flothmann, K., Hemmrich, N., Ingvast, S., Jorge, P., Paloma, E., Patel, R., Rozet, J.-M., Tammur, J., Testa, F., Balcells, S., Bird, A. C., Brunner, H. G., Hoyng, C. B., Metspalu, A., Simonelli, F., Weber, Bernhard H. F.

und et, al. (2002) The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe. European Journal of Human Genetics 10 (3), S. 197-203. Volltext nicht vorhanden.

Stöhr, H., Marquardt, A., Nanda, I., Schmid, M. und Weber, Bernhard H. F.

(2002) Three novel human VMD2-like genes are members of the evolutionary highly conserved RFP-TM family. European Journal of Human Genetics 10 (4), S. 281-284. Volltext nicht vorhanden.

Bauer, I., Gencik, M., Laccone, F., Peters, H., Weber, Bernhard H. F.

und et, al. (2002) Trinucleotide repeat expansions in the junctophilin-3 gene are not found in caucasian patients with a huntington's disease-like phenotype. Annals of Neurology 51 (5), S. 662. Volltext nicht vorhanden.

White, K., Held, K. R. und Weber, Bernhard H. F.

(2001) A BRCA2 germ-line mutation in familial pancreatic carcinoma. International Journal of Cancer 91 (5), S. 742-744. Volltext nicht vorhanden.

Scholl, H. P. N., Langrova, H., Weber, Bernhard H. F.

, Zrenner, E. und Apfelstedt-Sylla, E. (2001) Clinical electrophysiology of two rod pathways: normative values and clinical application. Graefe's Archive for Clinical and Experimental Ophthalmology 239 (2), S. 71-80. Volltext nicht vorhanden.

Stöhr, H. und Weber, Bernhard H. F.

(2001) Cloning and Characterization of the Human Retina-Specific Gene MPP4, a Novel Member of the p55 Subfamily of MAGUK Proteins. Genomics 74 (3), S. 377-384. Volltext nicht vorhanden.

Sauer, C. G., White, K., Kellner, U., Rudolph, G., Jurklies, B., Pauleikhoff, D. und Weber, Bernhard H. F.

(2001) EFEMP1 is not associated with sporadic early onset drusen. Ophthalmic Genetics 22, S. 27-34. Volltext nicht vorhanden.

Oldenburg, J., Ivaskevicius, V., Rost, S., Fregin, A., White, K., Holinski-Feder, E., Müller-Reible, C. R. und Weber, Bernhard H. F.

(2001) Evaluation of DHPLC in the analysis of hemophilia A. Journal of Biochemical and Biophysical Methods 47 (1-2), S. 39-51. Volltext nicht vorhanden.

Sauer, C. G., White, K., Stöhr, H., Grimm, T., Hutchinson, A., Bernstein, P. S., Lewis, R. A., Simonelli, F., Pauleikhoff, D., Allikmets, R. und Weber, Bernhard H. F.

(2001) Evaluation of the G protein coupled receptor-75 (GPR75) in age related macular degeneration. British Journal of Ophthalmology 85 (8), S. 969-975. Volltext nicht vorhanden.

Molday, L. L., Hicks, D., Sauer, C. G., Weber, Bernhard H. F.

und Molday, R. S. (2001) Expression of X-linked retinoschisis protein RS1 in photoreceptor and bipolar cells. Investigative ophthalmology and visual science 42 (3), S. 816-825.

Mah, N., Stöhr, H., Schulz, H. L., White, K. und Weber, Bernhard H. F.

(2001) Identification of a novel retina-specific gene located in a subtelomeric region with polymorphic distribution among multiple human chromosomes. Biochimica et Biophysica Acta - Gene Structure and Expression 1522 (3), S. 167-174. Volltext nicht vorhanden.

Scholl, H. P. N., Kremers, J., Vonthein, R., White, K. und Weber, Bernhard H. F.

(2001) L- and M-Cone–Driven Electroretinograms in Stargardt’s Macular Dystrophy–Fundus Flavimaculatus. Investigative ophthalmology and visual science 42, S. 1380-1389.

Krämer, F., White, K., Kubbies, M., Swisshelm, K. und Weber, Bernhard H. F.

(2000) Genomic organization of claudin-1 and its assessment in hereditary and sporadic breast cancer. Human Genetics 107 (3), S. 249-256. Volltext nicht vorhanden.

Stöhr, H., Mah, N., Schulz, H. L., Gehrig, A., Fröhlich, S. und Weber, Bernhard H. F.

(2000) EST mining of the UniGene dataset to identify retina-specific genes. Cytogenetics and cell genetics 91, S. 267-277. Volltext nicht vorhanden.

Allikmets, Rando, International ABCR Screening Consortium, . und Weber, Bernhard H. F.

(2000) Further Evidence for an Association of ABCR Alleles with Age-Related Macular Degeneration. The American Journal of Human Genetics 67 (2), S. 487-491. Volltext nicht vorhanden.

Hofferbert, S., Worringen, U., Backe, J., Rückert, E.-M., White, K., Faller, H., Grimm, T., Caffier, H., Chang-Claude, J. und Weber, Bernhard H. F.

(2000) Simultaneous Interdisciplinary counseling in germany breast/ovarian cancer families: first experiences with patient perceptions, surveillance behavior and acceptance of genetic testing. Genetic Counseling 11, S. 127-146. Volltext nicht vorhanden.

White, K., Marquardt, A. und Weber, Bernhard H. F.

(2000) VMD2 mutations in vitelliform macular dystrophy (Best disease) and other maculopathies. Human Mutation 15 (4), S. 301-308. Volltext nicht vorhanden.

Marquardt, A., Stöhr, H., White, K. und Weber, Bernhard H. F.

(2000) cDNA Cloning, Genomic Structure, and Chromosomal Localization of Three Members of the Human Fatty Acid Desaturase Family. Genomics 66 (2), S. 175-183. Volltext nicht vorhanden.

Stöhr, H., Marquardt, A., White, K. und Weber, Bernhard H. F.

(2000) cDNA cloning and genomic structure of a novel gene (C11orf9) localized to chromosome 11q12→q13.1 which encodes a highly conserved, potential membrane-associated protein. Cytogenetics and cell genetics 88, S. 211-216. Volltext nicht vorhanden.

Passmore, L., Kaesmann-Kellner, B. und Weber, Bernhard H. F.

(1999) Novel and recurrent mutations in the tyrosinase gene and the P gene in the German albino population. Human Genetics 105 (3), S. 200-210. Volltext nicht vorhanden.

Stöhr, H., Klein, J., Gehrig, A., Koehler, M. R., Jurklies, B., Kellner, U., Leo-Kottler, B., Schmid, M. und Weber, Bernhard H. F.

(1999) Mapping and genomic characterization of the gene encoding diacylglycerol kinase γ (DAGK3): assessment of its role in dominant optic atrophy (OPA1). Human Genetics 104 (1), S. 99-105. Volltext nicht vorhanden.

Gehrig, A. E., White, K., Lorenz, B., Adrassi, M., Clemens, S. und Weber, Bernhard H. F.

(1999) Assessment of RS1 in X-linked juvenile retinoschisis and sporadic senile retinoschisis. Clinical Genetics 55 (6), S. 461-465. Volltext nicht vorhanden.

Breast Cancer Linkage Consortium, . (1999) Cancer risks in BRCA2 mutation carriers. Journal of the National Cancer Institute 91 (15), S. 1310-1316. Volltext nicht vorhanden.

Sandoval, N., Platzer, M., Rosenthal, A., Dörk, T., Bendix, R., Skawran, B., Stuhrmann, M., Wegner, R. D., Sperling, K., Banin, S., Shiloh, Y., Baumer, A., Bernthaler, U., Sennefelder, H., Brohm, M., Weber, Bernhard H. F.

und Schindler, D. (1999) Characterization of ATM Gene Mutations in 66 Ataxia Telangiectasia Families. Human Molecular Genetics 8 (1), S. 69-79. Volltext nicht vorhanden.

Laccone, F., Engel, U., Holinski-Feder, E., Weigell-Weber, M., Marczinek, K., Nolte, D., Morris-Rosendahl, D. J., Zühlke, C., Fuchs, K., Weirich-Schwaiger, H., Schluter, G., von Beust, G., Vieira-Saecker, A. M., Weber, Bernhard H. F.

und Riess, O. (1999) DNA analysis of Huntington's disease: five year experience in Germany, Austria and Switzerland (1993-1997). Neurology 53 (4), S. 801-806. Volltext nicht vorhanden.

Gehrig, A., Lorenz, B., Andrassi, M. und Weber, Bernhard H. F.

(1999) First molecular evidence for a de novo mutation in RS1 (XLRS1) associated with X linked juvenile retinoschisis. Journal of Medical Genetics 36 (12), S. 933-934. Volltext nicht vorhanden.

Backe, J., Hofferbert, S., Skawran, B., Dörk, T., Stuhrmann, M., Karstens, J. H., Untch, M., Meindl, A., Burgemeister, R., Chang-Claude, J. und Weber, Bernhard H. F.

(1999) Frequency of BRCA1 mutation 5382insC in german breast cancer patients. Gynecologic Oncology 72 (3), S. 402-406. Volltext nicht vorhanden.

Gehrig, A. E., Warneke-Wittstock, R., Sauer, C. G. und Weber, Bernhard H. F.

(1999) Isolation and characterization of the murine X-linked juvenile retinoschisis (Rs1h) gene. Mammalian Genome 10 (3), S. 303-307. Volltext nicht vorhanden.

Chang-Claude, J., Becher, H., Caligo, M., Eccles, D., Evans, G., Haites, N., Hodgson, S., Moller, P., Weber, Bernhard H. F.

und Stoppa-Lyonnet, D. (1999) Risk estimation as a decision-making tool for genetic analysis of the breast cancer susceptibility genes. EC Demonstration Project on Familial Breast Cancer. Disease Markers 15 (1-3), S. 53-65. Volltext nicht vorhanden.

Zack, D. J., Dean, M., Molday, R. S., Nathans, J., Redmont, T. M., Stone, E. M., Swaroop, A., Valle, D. und Weber, Bernhard H. F.

(1999) What can we learn about age-related macular degeneration from other retinal diseases? Molecular vision 5, S. 30.

Nasonkin, I., Illing, M., Koehler, M. R., Schmid, M., Molday, R. S. und Weber, Bernhard H. F.

(1998) Mapping of the rod photoreceptor ABC transporter (ABCR) to 1p21–p22.1 and identification of novel mutations in Stargardt’s disease. Human Genetics 102 (1), S. 21-26. Volltext nicht vorhanden.

Stöhr, H., Marquardt, A., Rivera, A., Cooper, P. R., Nowak, N. J., Shows, T. B., Gerhard, D. S. und Weber, Bernhard H. F.

(1998) A gene map of the Best's vitelliform macular dystrophy region in chromosome 11q12-q13.1. Genome research 8 (1), S. 48-56.

Strom, T. M., Nyakatura, G., Apfelstedt-Sylla, E., Hellebrand, H., Lorenz, B., Weber, Bernhard H. F.

, Wutz, K., Gutwillinger, N., Rüther, K., Drescher, B., Sauer, C. G., Zrenner, E., Meitinger, T., Rosenthal, A. und Meindl, A. (1998) An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness. Nature Genetics 19, S. 260-263. Volltext nicht vorhanden.

Gehrig, A., Felbor, U., Kelsell, R. E., Hunt, D. M., Maumenee, I. H. und Weber, Bernhard H. F.

(1998) Assessment of the interphotoreceptor matrix proteoglycan-1 (IMPG1) gene localised to 6q13-q15 in autosomal dominant Stargardt-like disease (ADSTGD), progressive bifocal chorioretinal atrophy (PBCRA), and North Carolina macular dystrophy (MCDR1). Journal of Medical Genetics 35 (8), S. 641-645. Volltext nicht vorhanden.

Becker, M., Rohrschneider, K., Tilgen, W., Weber, Bernhard H. F.

und Völcker, H. E. (1998) Familiäre juvenile Makuladystrophie mit kongenitaler Hypotrichosis capitis -- Familial juvenile macular dystrophy with congenital hypotrichosis capitis. Der Ophthalmologe 95 (4), S. 233-240. Volltext nicht vorhanden.

Felbor, U., Gehrig, A., Sauer, C. G., Marquardt, A., Köhler, M., Schmid, M. und Weber, Bernhard H. F.

(1998) Genomic organization and chromosomal localization of the interphotoreceptor matrix proteoglycan-1 (IMPG1) gene: a candidate for 6q-linked retinopathies. Cytogenetics and cell genetics 81, S. 12-17. Volltext nicht vorhanden.

Porsch, M., Hofmeyer, K., Bausenwein, B., Grimm, S., Weber, Bernhard H. F.

, Miassod, R. und Pflugfelder, G. O. (1998) Isolation of a Drosophila T-box gene closely related to human TBX1. Gene 212 (2), S. 237-248. Volltext nicht vorhanden.

Kelsell, R. E., Gregory-Evans, K., Gregory-Evans, C. Y., Holder, G. E., Jay, M. R., Weber, Bernhard H. F.

, Moore, A. T., Bird, A. C. und Hunt, D. M. (1998) Localization of a gene (CORD7) for a dominant cone-rod dystrophy to chromosome 6q. The American Journal of Human Genetics 63 (1), S. 274-279. Volltext nicht vorhanden.

Koehler, M. R., Sauer, C. G., Reismann, N., Steinlein, C., Weber, Bernhard H. F.

, Will, H. und Schmid, M. (1998) Localization of the human membrane-type 2 matrix metalloproteinase gene (MMP15) to 16q12.1 near DNA elements that are part of centromeric and non-centromeric heterochromatin of 11 human chromosomes. Chromosome Research 6 (3), S. 199-203. Volltext nicht vorhanden.

Marquardt, A., Stöhr, H., Passmore, L. A., Kramer, F., Rivera, A. und Weber, Bernhard H. F.

(1998) Mutations in a Novel Gene, VMD2 ; Encoding a Protein of Unknown Properties Cause Juvenile-Onset Vitelliform Macular Dystrophy (Best's Disease). Human Molecular Genetics 7 (9), S. 1517-1525. Volltext nicht vorhanden.

Schworm, H. D., Ulbig, M. W., Hoops, J., Rudolph, G., Weber, Bernhard H. F.

, Ehrt, O. und Boergen, K.-P. (1998) North Carolina macular dystrophy: Hereditäre Makulaerkrankung mit guter funktioneller Prognose -- a hereditary macular dystrophy with good visual prognosis. Der Ophthalmologe 95 (1), S. 13-18. Volltext nicht vorhanden.

Weber, Bernhard H. F.

(1998) Recent advances in the molecular genetics of hereditary retinal dystrophies with primary involvement of the macula. Acta anatomica 162 (2-3), S. 65-74. Volltext nicht vorhanden.

Stöhr, H., Marquardt, A., Rivera, A., Kellner, U. und Weber, Bernhard H. F.

(1998) Refined mapping of the gene encoding the p127 kDa UV-damaged DNA-binding protein (DDB1) within 11q12-q13.1 and its exclusion in Best's vitelliform macular dystrophy. European Journal of Human Genetics 6 (4), S. 400-405. Volltext nicht vorhanden.

Hofferbert, S., Brohm, M. und Weber, Bernhard H. F.

(1998) Search for TSG101 germline mutations in BRCA1/BRCA2-negative breast/ovarian cancer families. Cancer Genetics and Cytogenetics 102 (1), S. 86-87. Volltext nicht vorhanden.

Felbor, U. und Weber, Bernhard H. F.

(1998) Sorsby's fundus dystrophy: Eine genetisch homogene Erkrankung - a genetically homogeneous condition. Der Ophthalmologe 95 (5), S. 287-290. Volltext nicht vorhanden.

Roesch, M. T., Ewing, C. C., Gibson, A. E. und Weber, Bernhard H. F.

(1998) The natural history of X-linked retinoschisis. Canadian journal of ophthalmology 33, S. 149-158. Volltext nicht vorhanden.

Warneke-Wittstock, R., Marquardt, A., Gehrig, A., Sauer, C. G., Gessler, M. und Weber, Bernhard H. F.

(1998) Transcript Map of a 900-kb Genomic Region in Xp22.1–p22.2: Identification of 12 Novel Genes. Genomics 51 (1), S. 59-67. Volltext nicht vorhanden.

Cooper, P., Nowak, N. J., Higgins, M. J., Simpson, S. A., Stöhr, H., Marquardt, A., Weber, Bernhard H. F.

, Gerhard, D. S., de Jong, P. J. und Shows, T. B. (1997) A Sequence-Ready High-Resolution Physical Map of the Best Macular Dystrophy Gene Region in 11q12–q13. Genomics 41 (2), S. 185-192. Volltext nicht vorhanden.

Felbor, U., Schilling, H. und Weber, Bernhard H. F.

(1997) Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS gene. Human Mutation 10 (4), S. 301-309. Volltext nicht vorhanden.

Sauer, C. G., Schworm, H. D., Ulbig, M., Blankenagel, A., Rohrschneider, K., Pauleikhoff, D., Grimm, T. und Weber, Bernhard H. F.

(1997) An ancestral core haplotype defines the critical region harbouring the North Carolina macular dystrophy gene (MCDR1). Journal of Medical Genetics 34 (12), S. 961-966. Volltext nicht vorhanden.

Felbor, U., Suvanto, E. A., Forsius, H. R., Eriksson, A. W. und Weber, Bernhard H. F.

(1997) Autosomal recessive Sorsby fundus dystrophy revisited: molecular evidence for dominant inheritance. The American Journal of Human Genetics 60 (1), S. 57-62. Volltext nicht vorhanden.

Pauleikhoff, D., Sauer, C. G., Müller, C. R., Radermacher, M., Merz, A. und Weber, Bernhard H. F.

(1997) Clinical and Genetic Evidence for Autosomal Dominant North Carolina Macular Dystrophy in a German Family. American Journal of Ophthalmology 124 (3), S. 412-415. Volltext nicht vorhanden.

Felbor, U., Doepner, D., Schneider, U., Zrenner, E. und Weber, Bernhard H. F.

(1997) Evaluation of the gene encoding the tissue inhibitor of metalloproteinases-3 in various maculopathies. Investigative ophthalmology & visual science 38 (6), S. 1054-1059.

Sauer, G. S., Gehrig, A., Warneke-Wittstock, R., Marquardt, A., Ewing, C. C., Gibson, A., Lorenz, B., Jurklies, B. und Weber, Bernhard H. F.

(1997) Positional cloning of the gene associated with X-linked juvenile retinoschisis. Nature Genetics 17, S. 164-170. Volltext nicht vorhanden.

Riess, O., Laccone, F., Gispert, S., Schöls, L., Zühlke, C., Vieira-Saecker, A. M. M., Herlt, S., Wessel, K., Epplen, J. T., Weber, Bernhard H. F.

und et, al. (1997) SCA2 trinucleotide expansion in German SCA patients. Neurogenetics 1 (1), S. 59-64. Volltext nicht vorhanden.

Felbor, U., Benkwitz, C., Klein, M. L., Greenberg, J., Gregory, C. Y. und Weber, Bernhard H. F.

(1997) Sorsby's fundus dystrophy: Reevaluation of variable expressivity in patients carrying a TIMP3 founder mutation. Archives of Ophthalmology 115 (12), S. 1569-1571. Volltext nicht vorhanden.

Qin, S., Nowak, N. J., Zhang, J., Sait, S. N. J., Mayers, P. G., Higgins, M. J., Cheng, Y., Li, L., Munroe, D. J., Gerhard, D. S., Weber, Bernhard H. F.

, Bric, E., Housman, D. E., Evans, G. A. und Shows, T. B. (1996) A high-resolution physical map of human chromosome 11. Proceedings of the National Academy of Sciences of the United States of America : PNAS 93 (7), S. 3149-3154.

Felbor, U., Stöhr, H., Amann, T., Schönherr, U., Apfelstedt-Sylla, E. und Weber, Bernhard H. F.

(1996) A second independent Tyr168Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy. Journal of Medical Genetics 33 (3), S. 233-236. Volltext nicht vorhanden.

Weber, Bernhard H. F.

, Brohm, M., Stec, I., Backe, J. und Caffier, H. (1996) A somatic truncating mutation in BRCA2 in a sporadic breast tumor. The American Journal of Human Genetics 59 (4), S. 962-964. Volltext nicht vorhanden.

Weber, Bernhard H. F.

, Sander, S., Kopp, C., Walker, D., Eckstein, A., Wissinger, B., Zrenner, E. und Grimm, T. (1996) Analysis of 21 Stargardt's disease families confirms a major locus on chromosome 1p with evidence for non-allelic heterogeneity in a minority of cases. British Journal of Ophthalmology 80 (8), S. 745-749. Volltext nicht vorhanden.

Weber, Bernhard H. F.

und et, al. (1996) Report of the Fifth International Workshop on Human Chromosome 11 Mapping 1996 - Part 1,2,3. Cytogenetics and cell genetics 74, S. 1-56. Volltext nicht vorhanden.

Guerette, P. A., Ginzinger, D. G., Weber, Bernhard H. F.

und Gosline, J. M. (1996) Silk properties determined by gland-specific expression of a spider fibroin gene family. Science 272 (5258), S. 112-115. Volltext nicht vorhanden.

Wijesuriya, S. D., Evans, K., Jay, M. R., Davison, C., Weber, Bernhard H. F.

, Bird, A. C., Bhattacharya, S. S. und Gregory, C. Y. (1996) Sorsby's fundus dystrophy in the British Isles: demonstration of a striking founder effect by microsatellite-generated haplotypes. Genome research 6, S. 92-101.

Stöhr, H. und Weber, Bernhard H. F.

(1995) A recombination event excludes the ROM1 locus from the Best's vitelliform macular dystrophy region. Human Genetics 95 (2), S. 219-222. Volltext nicht vorhanden.

Felbor, U., Stöhr, H., Amann, T., Schönherr, U. und Weber, Bernhard H. F.

(1995) A novel Ser156Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy with unusual clinical features. Human Molecular Genetics 4 (12), S. 2415-2416. Volltext nicht vorhanden.

Stöhr, H., Roomp, K., Felbor, U. und Weber, Bernhard H. F.

(1995) Genomic organization of the human tissue inhibitor of metalloproteinases-3 (TIMP3). Genome research 5 (5), S. 483-487.

Weber, Bernhard H. F.

, Janocha, S., Vogt, G., Sander, S., Gibson, A., Roesch, M. und Ewing, C. C. (1995) X-linked juvenile retinoschisis (RS) maps between DXS987 and DXS443. Cytogenetics and cell genetics 69, S. 35-37. Volltext nicht vorhanden.

Stöhr, H. und Weber, Bernhard H. F.

(1994) (ATTT)n-Tetranucleotide repeat polymorphism in the 5'-flanking region of the UGB gene. Human Molecular Genetics 3 (11), S. 2086. Volltext nicht vorhanden.

Weber, Bernhard H. F.

, Stöhr, H. und Walker, D. (1994) A Case of Nonpenetrance in Best's Disease. American Journal of Ophthalmology 118 (3), S. 398-399. Volltext nicht vorhanden.

Weber, Bernhard H. F.

, Walker, D., Müller, B. und Mar, L. (1994) Best's Vitelliform Dystrophy (VMD2) Maps between D11S903 and PYGM: No Evidence for Locus Heterogeneity. Genomics 20 (2), S. 267-274. Volltext nicht vorhanden.

Weber, Bernhard H. F.

, Stöhr, H., Siedlaczck, I., Longmire, J. L., Deaven, L. L., Duncan, A. M. V. und Riess, O. (1994) Characterization of a cosmid library from flow-sorted chromosomes 11. Chromosome Research 2 (3), S. 201-207. Volltext nicht vorhanden.

Weber, Bernhard H. F.

, Vogt, G., Stöhr, H., Sander, S., Walker, D. und Jones, C. (1994) High-resolution meiotic and physical mapping of the best vitelliform macular dystrophy (VMD2) locus to pericentromeric chromosome 11. The American Journal of Human Genetics 55 (6), S. 1182-1187. Volltext nicht vorhanden.

Weber, Bernhard H. F.

, Walker, D. und Müller, B. (1994) Molecular evidence for non-penetrance in Best's disease. Journal of Medical Genetics 31 (5), S. 388-392. Volltext nicht vorhanden.

Weber, Bernhard H. F.

, Vogt, G., Pruett, R. C., Stöhr, H. und Felbor, U. (1994) Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy. Nature Genetics 8, S. 352-356. Volltext nicht vorhanden.

Weber, Bernhard H. F.

, Vogt, G., Wolz, W., Ives, E. J. und Ewing, C. C. (1994) Sorsby's fundus dystrophy is genetically linked to chromosome 22q13−qter. Nature Genetics 7, S. 158-161. Volltext nicht vorhanden.

Mitchell, J. J., Vekemans, M., Luscombe, S., Hayden, M., Weber, Bernhard H. F.

, Richter, A., Sparkes, R., Kojis, T., Watters, G. und Der Kaloustian, V. M. (1994) U-type exchange in a paracentric inversion as a possible mechanism of origin of an inverted tandem duplication of chromosome 8. American Journal of Medical Genetics Part A 49 (4), S. 384-387. Volltext nicht vorhanden.

Weber, Bernhard H. F.

, Riess, O., Daneshvar, H., Graham, R. und Hayden, M. R. (1993) (CA)n-dinucleotide repeat at the PDEB locus in 4p16.3. Human Molecular Genetics 2 (6), S. 827. Volltext nicht vorhanden.

Riess, O., Weber, Bernhard H. F.

und Hayden, M. R. (1992) (CA)n-dinucleotide repeat polymorphism at the locus for the alpha2C adrenergic receptor (ADRA2C) on 4p16. Human Molecular Genetics 1 (6), S. 452. Volltext nicht vorhanden.

Weber, Bernhard H. F.

, Riess, O., Wolff, G., Andrew, S., Collins, C., Graham, R., Theilmann, J. und Hayden, M. R. (1992) Delineation of a 50 kilobase DNA segment containing the recombination site in a sporadic case of Huntington's disease. Nature Genetics 2, S. 216-222. Volltext nicht vorhanden.

Riess, O., Noerremoelle, A., Collins, C., Mah, D., Weber, Bernhard H. F.

und Hayden, M. R. (1992) Exclusion of DNA changes in the bold beta−subunit of the c−GMP phosphodiesterase gene as the cause for Huntington's disease. Nature Genetics 1, S. 104-108. Volltext nicht vorhanden.

Weber, Bernhard H. F.

, Hedrick, A., Andrew, S., Riess, O., Collins, C., Kowbel, D. und Hayden, M. (1992) Isolation and characterization of new highly polymorphic DNA markers from the Huntington disease region. The American Journal of Human Genetics 50 (2), S. 382-393. Volltext nicht vorhanden.

Riess, O., Weber, Bernhard H. F.

, Noerremoelle, A., Shaikh, R. A., Hayden, M. R. und Musarella, M. A. (1992) Linkage studies and mutation analysis of the PDEB gene in 23 families with leber congenital amaurosis. Human Mutation 1 (6), S. 478-485. Volltext nicht vorhanden.

Andrew, S., Theilmann, J., Hedrick, A., Mah, D., Weber, Bernhard H. F.

und Hayden, M. R. (1992) Nonrandom association between huntington disease and two loci separated by about 3 Mb on 4p16.3. Genomics 13 (2), S. 301-311. Volltext nicht vorhanden.

Collins, C., Hutchinson, G., Kowbel, D., Riess, O., Weber, Bernhard H. F.

und Hayden, M. R. (1992) The human β-subunit of rod photoreceptor cGMP phosphodiesterase: Complete retinal cDNA sequence and evidence for expression in brain. Genomics 13 (3), S. 698-704. Volltext nicht vorhanden.

Riess, O., Noerremoelle, A., Weber, Bernhard H. F.

, Musarella, M. A. und Hayden, M. (1992) The search for mutations in the gene for the beta subunit of the cGMP phosphodiesterase (PDEB) in patients with autosomal recessive retinitis pigmentosa. The American Journal of Human Genetics 51 (4), S. 755-762. Volltext nicht vorhanden.

Weber, Bernhard H. F.

, Allen, L., Magenis, R. E. und Hayden, M. R. (1991) A low copy repeat located in subtelomeric regions of 14 different human chromosomal termini. Cytogenetics and cell genetics 57 (4), S. 179-183. Volltext nicht vorhanden.

Weber, Bernhard H. F.

, Riess, O. und Hayden, M. R. (1991) A polymorphic DNA marker at the D10S106 locus. Nucleic Acids Research 19 (7), S. 1725.

Weber, Bernhard H. F.

, Riess, O., Kreklywich, C. N., Wood, S. und Hayden, M. R. (1991) A polymorphic DNA marker at the D8S131 locus. Nucleic Acids Research 19 (7), S. 1725.

Weber, Bernhard H. F.

, Riess, O., Hutchinson, G., Collins, C., Lin, B., Kowbel, D., Andrew, S., Schappert, K. und Hayden, M. R. (1991) Genomic organization and complete sequence of the human gene encoding the β-subunit of the cGMP phosphodiesterase and its localisation to 4p16.3. Nucleic Acids Research 19 (22), S. 6263-6268.

Weber, Bernhard H. F.

, Collins, C., Kowbel, D., Riess, O. und Hayden, M. R. (1991) Identification of multiple CpG-islands and associated conserved sequences in a candidate region for the Huntington Disease gene. Genomics 11 (4), S. 1113-1124. Volltext nicht vorhanden.

Weber, Bernhard H. F.

, Allen, L., Magenis, R. E., Goodfellow, P. J., Smith, L. und Hayden, M. R. (1991) Intrachromosomal location of the telomeric repeat (TTAGGG)n. Mammalian Genome 1 (4), S. 211-216. Volltext nicht vorhanden.

Adam, S., Theilmann, J., Buetow, K., Hedrick, A., Collins, C., Weber, Bernhard H. F.

, Huggins, M. und Hayden, M. (1991) Linkage disequilibrium and modification of risk for Huntington disease. The American Journal of Human Genetics 48 (3), S. 595-603. Volltext nicht vorhanden.

Weber, Bernhard H. F.

, Collins, C., Robbins, C., Magenis, R. E., Delaney, A. D., Gray, J. W. und Hayden, M. R. (1990) Characterization and organization of DNA sequences adjacent to the human telomere associated repeat (TTAGGG)n. Nucleic Acids Research 18 (11), S. 3353-3361.

Schempp, W., Weber, Bernhard H. F.

und Müller, G. (1989) Mammalian sex-chromosome evolution: a conserved homoeologous segment on the X and Y chromosomes in primates. Cytogenetics and cell genetics 50 (4), S. 201-205. Volltext nicht vorhanden.

Theilmann, J., Kanani, S., Shiang, R., Robbins, C., Quarrell, O., Huggins, M., Hedrick, A., Weber, Bernhard H. F.

, Collins, C., Wasmuth, J. J., Buetow, K. H., Murray, J. C. und Hayden, M. R. (1989) Non-random association between alleles detected at D4S95 and D4S98 and the Huntington's disease gene. Journal of Medical Genetics 26 (11), S. 676-681. Volltext nicht vorhanden.

Weber, Bernhard H. F.

, Weissenbach, J. und Schempp, W. (1988) X-Y crossing over in the chimpanzee. Human Genetics 80 (3), S. 301-303. Volltext nicht vorhanden.

Zimmermann, W., Weber, Bernhard H. F.

, Ortlieb, B., Rudert, F., Schempp, W., Fiebig, H.-H., Shively, J. E., von Kleist, S. und Thompson, J. A. (1988) Chromosomal Localization of the Carcinoembryonic Antigen Gene Family and Differential Expression in Various Tumors. Cancer Research 48 (9), S. 2550-2554. Volltext nicht vorhanden.

Weber, Bernhard H. F.

, Walz, L., Schmid, M. und Schempp, W. (1988) Homoeologic aberrations in human and chimpanzee Y chromosomes: inverted and satellited Y chromosomes. Cytogenetics and cell genetics 47, S. 26-28. Volltext nicht vorhanden.

Weber, Bernhard H. F.

, Schempp, W., Orth, U., Seidel, H. und Gal, A. (1987) A Y/5 translocation in a 45,X male with cri du chat syndrome. Human Genetics 77 (2), S. 145-150. Volltext nicht vorhanden.

Gal, A., Weber, Bernhard H. F.

, Neri, G., Serra, A., Müller, U., Schempp, W. und Page, D. C. (1987) A 45,X male with Y-specific DNA translocated onto chromosome 15. The American Journal of Human Genetics 40 (6), S. 477-488. Volltext nicht vorhanden.

Weber, Bernhard H. F.

, Weissenbach, J. und Schempp, W. (1987) Conservation of human-derived pseudoautosomal sequences on the sex chromosomes of the great apes. Cytogenetics and cell genetics 45 (1), S. 26-29. Volltext nicht vorhanden.

Maserati, E., Waibel, F., Weber, Bernhard H. F.

, Fraccaro, M., Gal, A., Pasquali, F., Schempp, W., Scherer, G., Vaccaro, R., Weissenbach, J. und Wolf, U. (1986) A 45,X male with a Yp/18 translocation. Human Genetics 74 (2), S. 126-132. Volltext nicht vorhanden.

Weber, Bernhard H. F.

, Schempp, W und Wiesner, H (1986) An evolutionarily conserved early replicating segment on the sex chromosomes of man and the great apes. Cytogenetics and cell genetics 43, S. 72-78. Volltext nicht vorhanden.

Schempp, W., Weber, Bernhard H. F.

, Serra, A., Neri, G., Gal, A. und Wolf, U. (1985) A 45,X male with evidence of a translocation of Y euchromatin onto chromosome15. Human Genetics 71 (2), S. 150-154. Volltext nicht vorhanden.

Buchkapitel

Tanimoto, Naoyuki, Michalakis, S., Weber, Bernhard H. F.

, Wahl-Schott, C. A., Hammes, Hans-Peter und Seeliger, Mathias W. (2016) In-Depth Functional Diagnostics of Mouse Models by Single-Flash and Flicker Electroretinograms without Adapting Background Illumination. In: Bowes Rickman, C., (ed.) Retinal Degenerative Diseases. Advances in Experimental Medicine and Biology, 854. Springer International Publishing, Cham, Switzerland, S. 619-625. ISBN 978-3-319-17120-3. Volltext nicht vorhanden.

Grassmann, Felix, Heid, Iris M. und Weber, Bernhard H. F.

(2014) Genetic risk models in age-related macular degeneration. In: Ash, J. und Grimm, C., (eds.) Retinal Degenerative Diseases. Advances in Experimental Medicine and Biology, 801. Springer, New York, NY, S. 291-300. ISBN 978-1-4614-3209-8 (online), 978-1-4614-3208-1 (print). Volltext nicht vorhanden.

Hochschulschrift der Universität Regensburg

Happel, Lorenz (2024) CRISPR-AAV-Vektoren mit optimierter Cas9-Nuklease-Aktivität zur Haplotyp-spezifischen Deletion des Genortes für Morbus Best. Dissertation, Universität Regensburg.

Kellner, Martin

(2024) Identifikation und Charakterisierung von koregulierten Genen und regulatorischen Genclustern. Dissertation, Universität Regensburg.

Huttner, Lisa (2024) Optimierung der Chlorid-Kanalfunktion von mutantem Bestrophin-1. Dissertation, Universität Regensburg.

Negele, Niklas (2024) Funktionelle Untersuchungen zur Rolle der genetischen Varianten rs704 des Vitronectin-Gens in der Netzhaut und dem retinalen Pigmentepithel. Dissertation, Universität Regensburg.

Bondarenko, Sofiia (2024) Generation of Retinal Organoid-Retinal Pigment Epithelium Cocultures. Dissertation, Universität Regensburg.

Koschany, Anna Sophie (2023) Expression des retinalen ABCA4 Gens in humanen mononukleären Zellen des Blutes mittels CRISPR/CAS9 Technologie. Dissertation, Universität Regensburg.

Römer, Isabell (2023) Haplotyp-spezifische Deletionen am Genort des Morbus Best mittels CRISPR/Cas9 Genom-Editierung. Dissertation, Universität Regensburg.

Webster, Emily

(2023) NRF2-Associated Antioxidant Stress Response in Age-Related Macular Degeneration (AMD). Dissertation, Universität Regensburg.

Biasella, Fabiola (2023) The Effects of Genetic Variant rs704 in the VTN Gene on the Pathobiology of Age-related Macular Degeneration (AMD). Dissertation, Universität Regensburg.

Zankel, Martin (2022) Funktionelle Untersuchungen zum AMD-assoziierten NRTN-Gen – ein Beitrag zur Aufklärung der molekularen Pathogenese der alters-abhängigen Makuladegeneration (AMD). Dissertation, Universität Regensburg.

Berber, Patricia (2022) Retinal organoid differentiation, characterization, and adaptation as a model for Retinitis Pigmentosa. Dissertation, Universität Regensburg.

Sauerbeck, Bastian (2022) Literaturrecherche und -analyse zur Genetik der altersabhängigen Makuladegeneration (AMD). Dissertation, Universität Regensburg.

Schmid, Verena (2022) Functional and Structural Analysis of Retinoschisin-Na/K-ATPase Complex - Unraveling the Pathomechanism of X-linked juvenile Retinoschisis. Dissertation, Universität Regensburg.

Dürr, Lisa Marie Johanna (2022) Entwicklung einer skalierbaren Wirkstoffscreening-Plattform zur Identifizierung therapeutisch einsetzbarer Modulatoren von mutantem Bestrophin-1. Dissertation, Universität Regensburg.

Stelzl, Simon (2022) Charakterisierung pleiotroper genetischer Varianten anhand ihrer Genexpressionsregulation. Dissertation, Universität Regensburg.

Groß, Franziska Maria (2022) Untersuchungen zum Einfluss der AMD-assoziierten genetischen Varianten rs79744308 im Neurturin-Gen auf Stabilität und Funktion des Proteins in der Netzhaut. Dissertation, Universität Regensburg.

Eisner, Diana (2022) Haplotyp-spezifische Deletionen am Genort des Morbus Best mittels CRISPR-Cas9 Genom-Editierung. Dissertation, Universität Regensburg.

Kiel, Christina

(2021) Age-Related Macular Degeneration (AMD) - Investigations into the Molecular Mechanisms of Genetic Associations. Dissertation, Universität Regensburg.

Pohl, Anne (2021) Vesikuläre Sekretionsmechanismen in den Müllerzellen der Netzhaut. Dissertation, Universität Regensburg.

Nachtigal, Anna-Lena (2021) Untersuchungen zur molekularen Pathologie
der Bestrophinopathien. Dissertation, Universität Regensburg.

Strunz, Tobias

(2021) Genetic Variants with Significant Association to Age-Related Macular Degeneration (AMD) and their Role in the Regulation of Gene Expression. Dissertation, Universität Regensburg.

Berber, Patricia (2021) Circulating MicroRNA Expression in Two Murine Models of Retinal Neovascularization. Dissertation, Universität Regensburg.

Harsch, Sebastian (2020) Untersuchungen zur genetischen Assoziation bei der Progression der geographischen Atrophie, eine Spätform der altersabhängigen Makuladegeneration. Dissertation, Universität Regensburg.

Loewen-Horsch, Jennifer (2019) Functional analysis of selected ABCA4 and CNGB3 variants identified in retinal degeneration patients. Dissertation, Universität Regensburg.

Plößl, Karolina (2019) Studies on the Interaction between Retinoschisin and the Retinal Na/K-ATPase - Towards Elucidating the Molecular Pathomechanism of X-linked Juvenile Retinoschisis. Dissertation, Universität Regensburg.

Joos, Stefanie Johanna (2018) Untersuchungen zur gentherapeutischen Behandlung der X-gebundenen juvenilen Retinoschisis. Dissertation, Universität Regensburg.

Pröpper, Christiane (2018) LIS1-assoziierte klassische Lissenzephalie: Eine retrospektive, multizentrische Studie zum epileptischen Phänotyp und Ansprechen auf Antikonvulsiva. Dissertation, Universität Regensburg.

Etzel, Sarah Verena (2018) Die Rolle des TGF-β-Signalweges bei pathologischen Veränderungen der Netzhaut. Dissertation, Universität Regensburg.

Zimmermann, Stephanie (2016) Induzierte pluripotente Stammzellen - Entwicklung patientenspezifischer Zelllinien als Modellsysteme zur Erforschung von Erkrankungen des retinalen Pigmentepithels. Dissertation, Universität Regensburg.

Holterman, Larissa (2016) Genetische Untersuchungen zur weiteren Entschlüsselung der Ursache der North Carolina Makular Dystrophie. Dissertation, Universität Regensburg.

Graßmann, Felix (2016) Statistical and experimental analysis of genetic and non-genetic markers associated with risk and progression of age-related macular degeneration (AMD). Dissertation, Universität Regensburg.

Datta, Shyamtanu (2016) Functional analysis of genetic variants associated with age-related macular degeneration (AMD) - The HtrA serine peptidase 1 (HTRA1). Dissertation, Universität Regensburg.

Breinlich, Valentin Andreas (2015) Populationsbasierte Evaluation umweltbedingter und genetischer Risikofaktoren zur Entwicklung der altersbedingten Makuladegeneration (AMD). Dissertation, Universität Regensburg.

Lenhardt, Nina-Veronika Ingeborg (2015) Mutationsanalyse in ABCA4-assoziierten Netzhautdystrophien mittels der Didesoxymethode nach Sanger. Dissertation, Universität Regensburg.

Weber, Patricia (2014) Effekte von Interferon-B auf Transkription und Funktion von Mikroglia. Dissertation, Universität Regensburg.

Hlawatsch, Julia (2013) Sterile alpha motif containing 7 (Samd7) is a novel Crx-regulated transcriptional repressor in the retina. Dissertation, Universität Regensburg.

Lippe, Maria Elena (2013) Effekte von Curcumin auf Genexpression und Funktion proinflammatorisch aktivierter Mikroglia. Dissertation, Universität Regensburg.

Mirza, Myriam (2013) Characterization of the retinal degeneration and glial activation of neuronal ceroid lipofuscinosis mouse models Cln3Δex7-8 and Cln6nclf and the beneficial effects of dietary supplementation. Dissertation, Universität Regensburg.

Dirscherl, Konstantin Richard Franz (2013) Luteolin verursacht globale Veränderungen im Transkriptom von Mikroglia und führt zu einem anti-inflammatorischen, neuroprotektiven Phänotyp. Dissertation, Universität Regensburg.

Zach, Frank (2013) Molekulare Mechanismen der Retinadegeneration.
Aufklärung der erblichen Retinadegenerationen Sorsby Fundusdystrophie und Retinitis Pigmentosa (RP28) - Pathomechanismus und Funktion der beteiligten Proteine. Dissertation, Universität Regensburg.

Nagel, Kai (2012) Mutationsanalysen in BBS2 und BBS4 bei Patienten mit dem Bardet-Biedl Syndrom. Dissertation, Universität Regensburg.

Döringer, Judith (2012) Klinische Charakterisierung der hereditären spastischen Paraplegie mit mentaler Retardierung und/oder dünnem Corpus callosum. Dissertation, Universität Regensburg.

Karlstetter, Marcus (2012) Modulation and function of microglial phenotypes. Dissertation, Universität Regensburg.

Harpaintner, Claudia (2012) Untersuchung des Promotors und der PU.1 abhängigen Regulation des Stap-1 Gens in Mikrogliazellen und Makrophagen. Dissertation, Universität Regensburg.

Aichinger, Corinna (2012) Funktionelle Untersuchungen zu Krankheits-assoziierten Mutationen in den Genen ABCA4 und VMD2. Dissertation, Universität Regensburg.

Huber, Monika (2011) Suche nach einem neuen Brustkrebsgen mittels positioneller Kandidatengenanalyse. Dissertation, Universität Regensburg.

Ebert, Stefanie (2011) Molekulare Charakterisierung der Mikrogliaaktivierung bei retinaler Degeneration im Retinoschisin-defizienten Mausmodell. Dissertation, Universität Regensburg.

Loenhardt, Thomas Andreas (2011) Untersuchungen zu den molekularen Ursachen von Erkrankungen der Netzhaut - Die X-gebundene juvenile Retinoschisis und die altersabhängige Makuladegeneration. Dissertation, Universität Regensburg.

Brandl, Caroline (2011) Isolierung und Charakterisierung ectomesenchymaler Progenitorzellen aus der juvenilen murinen Cornea. Dissertation, Universität Regensburg.

Rauscher, Florian (2011) Biochemische Analyse der Dimerisierungseigenschaften der Bestrophine und molekularbiologische Charakterisierung des VMD2-Promotors. Dissertation, Universität Regensburg.

Janßen, Andreas (2008) Untersuchungen zu den molekularen Ursachen der beiden Makulopathien Sorsby Fundusdystrophie und X-gebundene juvenile Retinoschisis. Von der Charakterisierung krankheitsreflektierender Mausmodelle zum Einsatz geeigneter Therapiemöglichkeiten. Dissertation, Universität Regensburg.

Neureuther, Katharina (2008) Association of single nucleotide polymorphisms in the LPA gene region with serum Lp(a) levels and myocardial infarction. Dissertation, Universität Regensburg.

Ecker, Josef (2008) Isomer specific effects of conjugated linoleic acid on macrophage ABCG1 expression. Dissertation, Universität Regensburg.

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