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Bibliography of the Universität Regensburg

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Number of items at this level: 451.

2024

Kellner, Martin (2024) Identifikation und Charakterisierung von koregulierten Genen und regulatorischen Genclustern. PhD, Universität Regensburg.

Huttner, Lisa (2024) Optimierung der Chlorid-Kanalfunktion von mutantem Bestrophin-1. PhD, Universität Regensburg.

Negele, Niklas (2024) Funktionelle Untersuchungen zur Rolle der genetischen Varianten rs704 des Vitronectin-Gens in der Netzhaut und dem retinalen Pigmentepithel. PhD, Universität Regensburg.

Bondarenko, Sofiia (2024) Generation of Retinal Organoid-Retinal Pigment Epithelium Cocultures. PhD, Universität Regensburg.

2023

Koschany, Anna Sophie (2023) Expression des retinalen ABCA4 Gens in humanen mononukleären Zellen des Blutes mittels CRISPR/CAS9 Technologie. PhD, Universität Regensburg.

Römer, Isabell (2023) Haplotyp-spezifische Deletionen am Genort des Morbus Best mittels CRISPR/Cas9 Genom-Editierung. PhD, Universität Regensburg.

Webster, Emily (2023) NRF2-Associated Antioxidant Stress Response in Age-Related Macular Degeneration (AMD). PhD, Universität Regensburg.

Biasella, Fabiola (2023) The Effects of Genetic Variant rs704 in the VTN Gene on the Pathobiology of Age-related Macular Degeneration (AMD). PhD, Universität Regensburg.

2022

Zankel, Martin (2022) Funktionelle Untersuchungen zum AMD-assoziierten NRTN-Gen – ein Beitrag zur Aufklärung der molekularen Pathogenese der alters-abhängigen Makuladegeneration (AMD). PhD, Universität Regensburg.

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

Berber, Patricia (2022) Retinal organoid differentiation, characterization, and adaptation as a model for Retinitis Pigmentosa. PhD, Universität Regensburg.

Sauerbeck, Bastian (2022) Literaturrecherche und -analyse zur Genetik der altersabhängigen Makuladegeneration (AMD). PhD, Universität Regensburg.

Schmid, Verena (2022) Functional and Structural Analysis of Retinoschisin-Na/K-ATPase Complex - Unraveling the Pathomechanism of X-linked juvenile Retinoschisis. PhD, Universität Regensburg.

Schmid, Verena, Wurzel, Alexander , Wetzel, Christian H. , Plössl, Karolina, Bruckmann, Astrid, Luckner, Patricia, Weber, Bernhard H. F. and 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), p. 448.

Dürr, Lisa Marie Johanna (2022) Entwicklung einer skalierbaren Wirkstoffscreening-Plattform zur Identifizierung therapeutisch einsetzbarer Modulatoren von mutantem Bestrophin-1. PhD, Universität Regensburg.

Stelzl, Simon (2022) Charakterisierung pleiotroper genetischer Varianten anhand ihrer Genexpressionsregulation. PhD, Universität Regensburg.

Biasella, Fabiola, Strunz, Tobias , Kiel, Christina , Weber, Bernhard H. F. and Friedrich, Ulrike (2022) Vitronectin and Its Interaction with PAI-1 Suggests a Functional Link to Vascular Changes in AMD Pathobiology. Cells 11 (11), p. 1766.

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. PhD, Universität Regensburg.

Eisner, Diana (2022) Haplotyp-spezifische Deletionen am Genort des Morbus Best mittels CRISPR-Cas9 Genom-Editierung. PhD, Universität Regensburg.

Brandl, Caroline, Zimmermann, Martina E. , Günther, Felix, Dietl, Alexander, Küchenhoff, Helmut, Loss, Julika, Stark, Klaus J. and 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, p. 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. and 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), pp. 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 and Antoniou, Antonis C. (2022) Cancer Risks Associated With BRCA1 and BRCA2 Pathogenic Variants. Journal of Clinical Oncology 40 (14), pp. 1529-1541. Fulltext not available.

Strunz, Tobias , Pöllmann, Michael, Gamulescu, Maria-Andreea, Tamm, Svenja and 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), p. 6094. Fulltext not available.

Carlens, Julia, Johnson, K. Taneille, Bush, Andrew, Renz, Diane, Hehr, Ute, Laenger, Florian, Hogg, Claire, Wetzke, Martin, Schwerk, Nicolaus and 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), pp. 2021-2030. Fulltext not available.

Gersch, Julia, Hufendiek, Katerina , Delarocque, Julien , Framme, Carsten, Jacobsen, Christina , Stöhr, Heidi, Kellner, Ulrich and 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), p. 16007. Fulltext not available.

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. and Grosche, Antje (2022) Release of VAMP5‐positive extracellular vesicles by retinal Müller glia in vivo. Journal of Extracellular Vesicles 11 (9). Fulltext not available.

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. and Gorin, Michael B. (2022) Systems genomics in age-related macular degeneration. Experimental Eye Research 225, p. 109248. Fulltext not available.

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 and 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), p. 3363. Fulltext not available.

2021

Kiel, Christina (2021) Age-Related Macular Degeneration (AMD) - Investigations into the Molecular Mechanisms of Genetic Associations. PhD, Universität Regensburg.

Pohl, Anne (2021) Vesikuläre Sekretionsmechanismen in den Müllerzellen der Netzhaut. PhD, Universität Regensburg.

Nachtigal, Anna-Lena (2021) Untersuchungen zur molekularen Pathologie
der Bestrophinopathien. PhD, Universität Regensburg.

Strunz, Tobias , Kellner, Martin, Kiel, Christina and Weber, Bernhard H. F. (2021) Assigning Co-Regulated Human Genes and Regulatory Gene Clusters. Cells 10 (9), pp. 1-13.

Strunz, Tobias (2021) Genetic Variants with Significant Association to Age-Related Macular Degeneration (AMD) and their Role in the Regulation of Gene Expression. PhD, Universität Regensburg.

Berber, Patricia (2021) Circulating MicroRNA Expression in Two Murine Models of Retinal Neovascularization. PhD, Universität Regensburg.

Weber, Bernhard H. F. , Kiel, Christina, Nebauer, Christoph A. , Strunz, Tobias and Stelzl, Simon (2021) Epistatic interactions of genetic loci associated with age-related macular degeneration. Scientific Reports 2021 (11), pp. 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. and 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), pp. 624-627.

Plössl, Karolina, Milenkovic, Andrea and 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), pp. 221-227. Fulltext not available.

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 and 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), p. 104310. Fulltext not available.

Todorow, Vanessa, Hintze, Stefan, Kerr, Alastair R. W., Hehr, Andreas, Schoser, Benedikt and 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), p. 8607. Fulltext not available.

2020

Biasella, Fabiola, Plössl, Karolina , Karl, Claudia, Weber, Bernhard H. F. and Friedrich, Ulrike (2020) Altered Protein Function Caused by AMD-associated Variant rs704 Links Vitronectin to Disease Pathology. Investigative Opthalmology & Visual Science 61 (14), p. 2.

Strunz, Tobias , Kiel, Christina , Sauerbeck, Bastian L. and Weber, Bernhard H. F. (2020) Learning from Fifteen Years of Genome-Wide Association Studies in Age-Related Macular Degeneration. Cells 9 (10), p. 2267.

Kiel, Christina , Strunz, Tobias , Grassmann, Felix , Weber, Bernhard H. F. and 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), p. 2257.

Strunz, Tobias , Kiel, Christina , Grassmann, Felix , Ratnapriya, Rinki , Kwicklis, Madeline, Karlstetter, Marcus, Fauser, Sascha, Arend, Nicole, Swaroop, Anand , Langmann, Thomas, Wolf, Armin and 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. and 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, p. 120.

Harsch, Sebastian (2020) Untersuchungen zur genetischen Assoziation bei der Progression der geographischen Atrophie, eine Spätform der altersabhängigen Makuladegeneration. PhD, Universität Regensburg.

Huchzermeyer, Cord , Fars, Julien , Stöhr, Heidi and Kremers, Jan (2020) Neue Techniken zur Quantifizierung des Farbsinns bei Störungen der Zapfenfunktion. Der Ophthalmologe 118 (2), pp. 144-153.

Schmid, Verena, Plössl, Karolina, Schmid, Carina, Bernklau, Sarah, Weber, Bernhard H. F. and Friedrich, Ulrike (2020) Retinoschisin and Cardiac Glycoside Crosstalk at the Retinal Na/K-ATPase. Investigative Opthalmology & Visual Science 61 (5), pp. 1-10.

Kiel, Christina , Berber, Patricia, Karlstetter, Marcus, Aslanidis, Alexander, Strunz, Tobias , Langmann, Thomas, Grassmann, Felix and 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), p. 2689. Fulltext not available.

Strunz, Tobias , Lauwen, Susette, Kiel, Christina , Hollander, Anneke den and 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). Fulltext not available.

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. and Weber, Bernhard H. F. (2020) Association of Sex With Frequent and Mild ABCA4 Alleles in Stargardt Disease. JAMA Ophthalmology 138 (10), p. 1035. Fulltext not available.

Hufendiek, Karsten , Hufendiek, Katerina , Jägle, Herbert, Stöhr, Heidi, Book, Marius , Spital, Georg, Rustambayova, Günay, Framme, Carsten, Weber, Bernhard H. F., Renner, Agnes B. and Kellner, Ulrich (2020) Clinical Heterogeneity in Autosomal Recessive Bestrophinopathy with Biallelic Mutations in the BEST1 Gene. International Journal of Molecular Sciences 21 (24), p. 9353. Fulltext not available.

Nasser, Fadi, Kempf, Melanie, Kurtenbach, Anne, Stöhr, Heidi, Weber, Bernhard H. F., Neuhaus, Christine, Rating, Philipp and 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), pp. 141-151. Fulltext not available.

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. and Stouffs, Katrien (2020) Defining the phenotypical spectrum associated with variants in TUBB2A. Journal of Medical Genetics 58 (1), pp. 33-40. Fulltext not available.

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 and Kuechler, Alma (2020) Further evidence for POMK as candidate gene for WWS with meningoencephalocele. Orphanet Journal of Rare Diseases 15 (1). Fulltext not available.

Grassmann, Felix , Weber, Bernhard H. F. and 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), pp. 401-407. Fulltext not available.

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. and Di Donato, Nataliya (2020) International consensus recommendations on the diagnostic work-up for malformations of cortical development. Nature Reviews Neurology 16 (11), pp. 618-635. Fulltext not available.

Nachtigal, Anna-Lena, Milenkovic, Andrea, Brandl, Caroline , Schulz, Heidi L., Duerr, Lisa M. J., Lang, Gabriele E., Reiff, Charlotte, Herrmann, Philipp, Kellner, Ulrich and Weber, Bernhard H. F. (2020) Mutation-Dependent Pathomechanisms Determine the Phenotype in the Bestrophinopathies. International Journal of Molecular Sciences 21 (5), p. 1597. Fulltext not available.

Milenkovic, Andrea, Brandl, Caroline, Nachtigal, Anna-Lena, Kellner, Ulrich and 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), pp. 259-266. Fulltext not available.

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 and Hahnen, Eric (2020) Performance of Breast Cancer Polygenic Risk Scores in 760 FemaleCHEK2Germline Mutation Carriers. JNCI: Journal of the National Cancer Institute 113 (7), pp. 893-899. Fulltext not available.

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 and 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), pp. 1235-1246. Fulltext not available.

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 and Anand-Apte, Bela (2020) Role of FGF and Hyaluronan in Choroidal Neovascularization in Sorsby Fundus Dystrophy. Cells 9 (3), p. 608. Fulltext not available.

Wolk, Alyson, Upadhyay, Mala, Ali, Mariya, Suh, Jason, Stoehr, Heidi, Bonilha, Vera L. and Anand-Apte, Bela (2020) The retinal pigment epithelium in Sorsby Fundus Dystrophy shows increased sensitivity to oxidative stress-induced degeneration. Redox Biology 37, p. 101681. Fulltext not available.

Dadak, Mete, Pul, Refik, Lanfermann, Heinrich, Hartmann, Hans, Hehr, Ute, Donnerstag, Frank, Michels, Dirk and Tryc, Anita Blanka (2020) Varying Patterns of CNS Imaging in Influenza A Encephalopathy in Childhood. Clinical Neuroradiology 30 (2), pp. 243-249. Fulltext not available.

2019

Loewen-Horsch, Jennifer (2019) Functional analysis of selected ABCA4 and CNGB3 variants identified in retinal degeneration patients. PhD, Universität Regensburg.

Ramchandran, Ramani, Plössl, Karolina , Straub, Kristina, Schmid, Verena, Strunz, Franziska, Wild, Jens , Merkl, Rainer, Weber, Bernhard H. F. and Friedrich, Ulrike (2019) Identification of the retinoschisin-binding site on the retinal Na/K-ATPase. PLOS ONE 14 (5), e0216320.

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. PhD, Universität Regensburg.

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 and Cremers, Frans P. M. (2019) Cost‐effective molecular inversion probe‐based ABCA4 sequencing reveals deep‐intronic variants in Stargardt disease. Human Mutation 40 (10), pp. 1749-1759. Fulltext not available.

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. and 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), pp. 1557-1578. Fulltext not available.

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 and 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), p. 867. Fulltext not available.

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 and 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). Fulltext not available.

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. and 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), pp. 1751-1760. Fulltext not available.

Hoffmann, Anna-Carin, Minakaki, Georgia , Menges, Stefanie, Salvi, Rachele, Savitskiy, Sergey, Kazman, Aida, Vicente Miranda, Hugo , Mielenz, Dirk, Klucken, Jochen, Winkler, Jürgen and Xiang, Wei (2019) Extracellular aggregated alpha synuclein primarily triggers lysosomal dysfunction in neural cells prevented by trehalose. Scientific Reports 9 (1). Fulltext not available.

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 , 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, make_name_string expected hash reference and make_name_string expected hash reference (2019) Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer. Nature Communications 10 (1). Fulltext not available.

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 and 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). Fulltext not available.

Waksmunski, Andrea R., Grunin, Michelle, Kinzy, Tyler G., Igo, Robert P., Haines, Jonathan L. and 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), p. 4041. Fulltext not available.

Hehr, Andreas, Paulmann, Bernd, Gassner, Claudia, Krauß-Dreher, Susann, Seifert, Bernd and Hehr, Ute (2019) Präimplantationsdiagnostik für monogene Erkrankungen am PID-Zentrum Regensburg. medizinische genetik 31 (3), pp. 266-274. Fulltext not available.

Brandl, Caroline , Brücklmayer, Christiane, Günther, Felix, Zimmermann, Martina E. , Küchenhoff, Helmut, Helbig, Horst, Weber, Bernhard H. F., Heid, Iris M. and 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), p. 1581. Fulltext not available.

Qi, Jian Hua, Bell, Brent, Singh, Rupesh , Batoki, Julia, Wolk, Alyson , Cutler, Alecia, Prayson, Nicholas, Ali, Mariya, Stoehr, Heidi and 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). Fulltext not available.

Rating, P., Stöhr, H., Neuhaus, C., Schaperdoth-Gerlings, B., Böhm, M. R. R., Freimuth, M.‑A. and Bechrakis, N. E. (2019) Stufendiagnostik einer CSNB1 mit NYX-Genmutation. Der Ophthalmologe 116 (12), pp. 1207-1211. Fulltext not available.

Milenkovic, Andrea, Schmied, Denise, Tanimoto, Naoyuki, Seeliger, Mathias W., Sparrow, Janet R. and 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. Fulltext not available.

Mages, Kristin, Grassmann, Felix , Jägle, Herbert, Rupprecht, Rainer, Weber, Bernhard H. F., Hauck, Stefanie M. and 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). Fulltext not available.

Hebebrand, Moritz, Hüffmeier, Ulrike, Trollmann, Regina, Hehr, Ute, Uebe, Steffen, Ekici, Arif B. , Kraus, Cornelia, Krumbiegel, Mandy, Reis, André , Thiel, Christian T. and Popp, Bernt (2019) The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy. Orphanet Journal of Rare Diseases 14 (1). Fulltext not available.

Grassmann, Felix , Kiel, Christina, den Hollander, Anneke I., Weeks, Daniel E. , Lotery, Andrew , Cipriani, Valentina and Weber, Bernhard H. F. (2019) Y chromosome mosaicism is associated with age-related macular degeneration. European Journal of Human Genetics 27 (1), pp. 36-41. Fulltext not available.

2018

Joos, Stefanie Johanna (2018) Untersuchungen zur gentherapeutischen Behandlung der X-gebundenen juvenilen Retinoschisis. PhD, Universität Regensburg.

Pujol-Lereis, Luciana M., Liebisch, Gerhard , Schick, Tina, Lin, Yuchen, Grassmann, Felix , Uchida, Koji, Zipfel, Peter F., Fauser, Sascha, Skerka, Christine and 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.

Pröpper, Christiane (2018) LIS1-assoziierte klassische Lissenzephalie: Eine retrospektive, multizentrische Studie zum epileptischen Phänotyp und Ansprechen auf Antikonvulsiva. PhD, Universität Regensburg.

Etzel, Sarah Verena (2018) Die Rolle des TGF-β-Signalweges bei pathologischen Veränderungen der Netzhaut. PhD, Universität Regensburg.

Grassmann, Felix , Mengelkamp, Judith, Brandl, Caroline , Harsch, Sebastian, Zimmermann, Martina E. , Linkohr, Birgit , Peters, Annette, Heid, Iris M., Palm, Christoph and 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), pp. 1410-1420. Fulltext not available.

Strunz, Tobias, Grassmann, Felix , Gayán, Javier, Nahkuri, Satu, Souza-Costa, Debora, Maugeais, Cyrille, Fauser, Sascha, Nogoceke, Everson and 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). Fulltext not available.

Milenkovic, Andrea, Milenkovic, Vladimir M., Wetzel, Christian H. and 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), pp. 1630-1641. Fulltext not available.

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. and 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. Fulltext not available.

Garces, Fabian, Jiang, Kailun, Molday, Laurie L., Stöhr, Heidi, Weber, Bernhard H., Lyons, Christopher J., Maberley, David and 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), p. 2305. Fulltext not available.

Elbracht, Miriam, Kraft, Florian, Begemann, Matthias, Holschbach, Petra, Mull, Michael, Kabat, Ildiko M., Müller, Britta, Häusler, Martin, Kurth, Ingo and 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), pp. 1255-1260. Fulltext not available.

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 and 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), pp. 567-584. Fulltext not available.

Hinreiner, Sophie, Wieczorek, Dagmar, Mueller, Dietmar, Roedl, Tanja, Thiel, Gundula, Grasshoff, Ute, Chaoui, Rabih and 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), pp. 198-205. Fulltext not available.

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. and 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), pp. 1349-1358. Fulltext not available.

Dannhausen, Katharina, Möhle, Christoph and Langmann, Thomas (2018) Immunomodulation with minocycline rescues retinal degeneration in juvenile Neuronal Ceroid Lipofuscinosis (jNCL) mice highly susceptible to light damage. Disease Models & Mechanisms. Fulltext not available.

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. and Nathanson, Katherine L. (2018) Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. Human Mutation 39 (5), pp. 593-620. Fulltext not available.

Plössl, Karolina, Schmid, Verena, Straub, Kristina , Schmid, Carina, Ammon, Mirjam, Merkl, Rainer , Weber, Bernhard H. F. and Friedrich, Ulrike (2018) Pathomechanism of mutated and secreted retinoschisin in X-linked juvenile retinoschisis. Experimental Eye Research 177, pp. 23-34. Fulltext not available.

Brandl, Caroline and Weber, Bernhard (2018) Personalisierte Ophthalmologie – induzierte pluripotente Stammzellen als In-vitro-Modellsysteme für degenerative Netzhauterkrankungen. Klinische Monatsblätter für Augenheilkunde 235 (03), pp. 301-308. Fulltext not available.

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 and 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). Fulltext not available.

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 and Nicke, Annette (2018) Re-evaluation of neuronal P2X7 expression using novel mouse models and a P2X7-specific nanobody. eLife 7. Fulltext not available.

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 and 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. Fulltext not available.

Volz, Cornelia, Grassmann, Felix , Greslechner, Roman, Märker, David Arthur, Peters, Patrick, Helbig, Horst and 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), pp. 32-37. Fulltext not available.

2017

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

Schäfer, Nicole, Grosche, Antje, Schmitt, Sabrina I., Braunger, Barbara M. and 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), pp. 1-17.

Weber, Bernhard H. F., Grassmann, Felix , Kiel, Christina, Zimmermann, Martina E., Gorski, Mathias , Grassmann, Veronika, Stark, Klaus and Heid, Iris M. (2017) Genetic pleiotropy between age-related macular degeneration and 16 complex diseases and traits. Genome Medicine 9 (29), pp. 1-13.

Kanno, Cláudia Misue, Américo de Oliveira, José, Garcia, José Fernando, Roth, Helmut and 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), pp. 598-606. Fulltext not available.

Grassmann, Felix , Heid, Iris M. and Weber, Bernhard H. F. (2017) Recombinant Haplotypes Narrow the ARMS2/HTRA1 Association Signal for Age-Related Macular Degeneration. Genetics 205 (2), pp. 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 and 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 and Weber, Bernhard H. F. (2017) An Eye on Age-Related Macular Degeneration: The Role of MicroRNAs in Disease Pathology. Molecular Diagnosis & Therapy 21 (1), pp. 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 and Wieczorek, Dagmar (2017) Bainbridge–Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition. European Journal of Human Genetics 25 (2), pp. 183-191. Fulltext not available.

Dammann, Philipp, Wrede, Karsten, Zhu, Yuan, Matsushige, Toshinori, Maderwald, Stefan, Umutlu, Lale, Quick, Harald H., Hehr, Ute, Rath, Matthias, Ladd, Mark E., Felbor, Ute and 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), pp. 570-577. Fulltext not available.

Jahic, Amir, Hinreiner, Sophie, Emberger, Werner, Hehr, Ute, Zuchner, Stephan and Beetz, Christian (2017) Doublet-Mediated DNA Rearrangement-A Novel and Potentially Underestimated Mechanism for the Formation of Recurrent Pathogenic Deletions. Human Mutation 38 (3), pp. 275-278. Fulltext not available.

Grassmann, Felix and Weber, Bernhard (2017) Genetische Risiken und Therapieentwicklung bei Netzhautdegenerationen. medizinische genetik 29 (2), pp. 195-201. Fulltext not available.

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. and Fischer, M. Dominik (2017) High Symmetry of Visual Acuity and Visual Fields in RPGR-Linked Retinitis Pigmentosa. Investigative Opthalmology & Visual Science 58 (11), p. 4457. Fulltext not available.

Kellner, Ulrich, Stöhr, Heidi, Weinitz, Silke, Farmand, Ghazaleh and Weber, Bernhard H. F. (2017) Mevalonate kinase deficiency associated with ataxia and retinitis pigmentosa in two brothers with MVK gene mutations. Ophthalmic Genetics. Fulltext not available.

Schulz, H. L., Grassmann, F. , Kellner, U., Spital, G., Rüther, K., Jägle, H., Hufendiek, K., Rating, P. and 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, pp. 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. and 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), pp. 531-552. Fulltext not available.

Plössl, Karolina, Royer, Melanie, Bernklau, Sarah, Tavraz, Neslihan N., Friedrich, Thomas, Wild, Jens, Weber, Bernhard H. F. , Friedrich, Ulrike and Heldin, Carl-Henrik (2017) Retinoschisin is linked to retinal Na/K-ATPase signaling and localization. Molecular Biology of the Cell 28 (16), pp. 2178-2189. Fulltext not available.

Plössl, Karolina, Royer, Melanie, Bernklau, Sarah, Tavraz, Neslihan N., Friedrich, Thomas, Wild, Jens, Weber, Bernhard H. F. , Friedrich, Ulrike and Heldin, Carl-Henrik (2017) Retinoschisin is linked to retinal Na/K-ATPase signaling and localization. Molecular Biology of the Cell 28 (16), pp. 2178-2189. Fulltext not available.

Plössl, Karolina, Royer, Melanie, Bernklau, Sarah, Tavraz, Neslihan N., Friedrich, Thomas, Wild, Jens, Weber, Bernhard H. F. , Friedrich, Ulrike and Heldin, Carl-Henrik (2017) Retinoschisin is linked to retinal Na/K-ATPase signaling and localization. Molecular Biology of the Cell 28 (16), pp. 2178-2189. Fulltext not available.

Bose, Tanima (2017) Role of immunological memory cells as a therapeutic target in multiple sclerosis. Brain Sciences 7, p. 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. and Grosche, Antje (2017) Suppression of SNARE-dependent exocytosis in retinal glial cells and its effect on ischemia-induced neurodegeneration. Glia 65 (7), pp. 1059-1071. Fulltext not available.

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 and Borgatti, Renato (2017) Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation. European Radiology 27 (12), pp. 5080-5092. Fulltext not available.

Brandl, Caroline (2017) Zelltherapie am Augenhintergrund – gestern, heute, morgen. medizinische genetik 29 (2), pp. 208-216. Fulltext not available.

2016

Friedrich, Ulrike, Plössl, Karolina and 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, pp. 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 and Pauly, Diana (2016) Complement Regulator FHR-3 Is Elevated either Locally or Systemically in a Selection of Autoimmune Diseases. Frontiers in Immunology 7 (542), pp. 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. and 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.

Zimmermann, Stephanie (2016) Induzierte pluripotente Stammzellen - Entwicklung patientenspezifischer Zelllinien als Modellsysteme zur Erforschung von Erkrankungen des retinalen Pigmentepithels. PhD, Universität Regensburg.

Holterman, Larissa (2016) Genetische Untersuchungen zur weiteren Entschlüsselung der Ursache der North Carolina Makular Dystrophie. PhD, 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). PhD, Universität Regensburg.

Datta, Shyamtanu (2016) Functional analysis of genetic variants associated with age-related macular degeneration (AMD) - The HtrA serine peptidase 1 (HTRA1). PhD, Universität Regensburg.

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. and 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), pp. 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. and 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, pp. 134-143. Fulltext not available.

Pujol-Lereis, Luciana Mercedes, Fagali, Natalia Soledad , Rabossi, Alejandro, Catalá, Ángel and Quesada-Allué, Luis Alberto (2016) Chill-coma recovery time, age and sex determine lipid profiles in Ceratitis capitata tissues. Journal of Insect Physiology 87, pp. 53-62. Fulltext not available.

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 and Felbor, Ute (2016) Constitutional de novo and postzygotic mutations in isolated cases of cerebral cavernous malformations. Molecular Genetics & Genomic Medicine 5 (1), pp. 21-27. Fulltext not available.

Tanimoto, Naoyuki, Akula, James D., Fulton, Anne B., Weber, Bernhard H. F. and Seeliger, Mathias W. (2016) Differentiation of murine models of “negative ERG” by single and repetitive light stimuli. Documenta Ophthalmologica 132 (2), pp. 101-109. Fulltext not available.

Fleckenstein, Monika , Grassmann, Felix , Lindner, Moritz , Pfau, Maximilian , Czauderna, Joanna, Strunz, Tobias, von Strachwitz, Claudia, Schmitz-Valckenberg, Steffen, Holz, Frank G. and 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), p. 2463.

Wagner, Lysann, Pannicke, Thomas, Frommherz, Ina, Sauer, Katja, Chen, Ju and Grosche, Antje (2016) Effects of IP3R2 Receptor Deletion in the Ischemic Mouse Retina. Neurochemical Research 41 (4), pp. 677-686. Fulltext not available.

Vogler, Stefanie, Grosche, Antje , Pannicke, Thomas, Wiedemann, Peter, Reichenbach, Andreas and Bringmann, Andreas (2016) Endothelins Inhibit Osmotic Swelling of Rat Retinal Glial and Bipolar Cells by Activation of Growth Factor Signaling. Neurochemical Research 41 (10), pp. 2598-2606. Fulltext not available.

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. and Fischer, J. (2016) Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis. Acta Dermato Venereologica 96 (4), pp. 473-478. Fulltext not available.

Kellner, S., Stöhr, Heidi, Fiebig, B., Weinitz, S., Farmand, G., Kellner, U. and 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, pp. 201-208. Fulltext not available.

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 and Beetz, Christian (2016) High Frequency of Pathogenic Rearrangements in SPG11 and Extensive Contribution of Mutational Hotspots and Founder Alleles. Human Mutation 37 (7), pp. 703-709. Fulltext not available.

Karrasch, Thomas, Herbst, Saskia M., Hehr, Ute, Schmid, Andreas and 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), pp. 73-77. Fulltext not available.

Larsen, Mirjam, Kress, Wolfram, Schoser, Benedikt , Hehr, Ute, Müller, Clemens R. and Rost, Simone (2016) Identification of variants in MBNL1 in patients with a myotonic dystrophy-like phenotype. European Journal of Human Genetics 24 (10), pp. 1467-1472. Fulltext not available.

Tanimoto, Naoyuki, Michalakis, S., Weber, Bernhard H. F. , Wahl-Schott, C. A., Hammes, Hans-Peter and 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, pp. 619-625. ISBN 978-3-319-17120-3. Fulltext not available.

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 and 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), pp. 399-406. Fulltext not available.

Chen, C. J., Kaufman, S., Packo, K., Stöhr, Heidi, Weber, Bernhard H. F. and 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, pp. 102-108. Fulltext not available.

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 and 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), pp. 419-425. Fulltext not available.

Girisha, Katta Mohan, Bidchol, Abdul Mueed, Graul-Neumann, Luitgard, Gupta, Ashish, Hehr, Ute, Lessel, Davor , Nader, Sean, Shah, Hitesh, Wickert, Julia and Kutsche, Kerstin (2016) Phenotype and genotype in patients with Larsen syndrome: clinical homogeneity and allelic heterogeneity in seven patients. BMC Medical Genetics 17 (1). Fulltext not available.

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. and 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), pp. 465-471. Fulltext not available.

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 and Weber, Bernhard H. F. (2016) Prevalence ofBRCA1/2germline mutations in 21 401 families with breast and ovarian cancer. Journal of Medical Genetics 53 (7), pp. 465-471. Fulltext not available.

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

Capone, Carmen, Cognat, Emmanuel , Ghezali, Lamia, Baron-Menguy, Céline, Aubin, Déborah, Mesnard, Laurent, Stöhr, Heidi, Domenga-Denier, Valérie, Nelson, Mark T. and Joutel, Anne (2016) Reducing Timp3 or vitronectin ameliorates disease manifestations in CADASIL mice. Annals of Neurology 79 (3), pp. 387-403. Fulltext not available.

Apaolaza, P. S., del Pozo-Rodríguez, A., Solinís, M. A., Rodríguez, J. M., Friedrich, U., Torrecilla, J. , Weber, Bernhard H. F. and Rodríguez-Gascón, A. (2016) Structural recovery of the retina in a retinoschisin-deficient mouse after gene replacement therapy by solid lipid nanoparticles. Biomaterials 90, pp. 40-49. Fulltext not available.

Busche, Andreas, Hehr, Ute, Sieg, Peter and 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), pp. 2404-2407. Fulltext not available.

Sell, Katharina, Storch, Katja, Hahn, Gabriele, Lee-Kirsch, Min Ae, Ramantani, Georgia , Jackson, Sandra, Neilson, Derek, von der Hagen, Maja, Hehr, Ute and Smitka, Martin (2016) Variable clinical course in acute necrotizing encephalopathy and identification of a novel RANBP2 mutation. Brain and Development 38 (8), pp. 777-780. Fulltext not available.

2015

Breinlich, Valentin Andreas (2015) Populationsbasierte Evaluation umweltbedingter und genetischer Risikofaktoren zur Entwicklung der altersbedingten Makuladegeneration (AMD). PhD, Universität Regensburg.

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 and 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), pp. 1-8.

Grassmann, Felix, Ach, Thomas, Brandl, Caroline, Heid, Iris M. and Weber, Bernhard H. F. (2015) What Does Genetics Tell Us About Age-Related Macular Degeneration? Annual Review of Vision Science 1, pp. 73-96. Fulltext not available.

Lenhardt, Nina-Veronika Ingeborg (2015) Mutationsanalyse in ABCA4-assoziierten Netzhautdystrophien mittels der Didesoxymethode nach Sanger. PhD, Universität Regensburg.

Weber, Bernhard H. F. , Bergholz, Richard, Mändl, Julia, Jägle, Herbert, Ruether, Klaus and Grassmann, Felix (2015) Common synonymous variants in ABCA4 are protective for chloroquine induced maculopathy (toxic maculopathy). BMC Ophthalmology 15 (18), pp. 1-7.

Sporrer, Daniela, Gessner, Andre, Hehlgans, Thomas, Oefner, Peter J. and Holler, Ernst (2015) The Microbiome and Allogeneic Stem Cell Transplantation. Current Stem Cell Rep 1 (1), pp. 53-59. Fulltext not available.

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. and 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), pp. 111-120.

Rebbeck, T. R., Mitra, N., Wan, F., Weber, Bernhard H. F. and et, al. (2015) Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer. JAMA 313, pp. 1347-1361. Fulltext not available.

Milenkovic, Andrea, Brandl, C., Milenkovic, Vladimir M., Jendryke, T., Sirianant, L., Wanitchakool, P., Zimmermann, S. and Weber, Bernhard H. F. (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. Fulltext not available.

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

Kellner, U., Kellner, S., Weinitz, S., Farmand, G., Weber, Bernhard H. F. and 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, pp. 250-258. Fulltext not available.

Gramer, G., Weber, Bernhard H. F. and 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. Fulltext not available.

Müller, P. L., Gliem, M., Mangold, E., Bolz, H. J., Finger, R. P., McGuinness, M., Betz, C., Jiang, Z. and Weber, Bernhard H. F. (2015) Monoallelic ABCA4 Mutations Appear Insufficient to Cause Retinopathy: A Quantitative Autofluorescence Study. Investigative Ophthalmology & Visual Science 56, pp. 8179-8186. Fulltext not available.

Gliem, M., Müller, Philipp L., Mangold, E., Bolz, H. J., Stöhr, Heidi, Weber, Bernhard H. F. , Holz, F. G. and Issa, Peter Charbel (2015) Reticular Pseudodrusen in Sorsby Fundus Dystrophy. Ophthalmology 122, pp. 1555-1562. Fulltext not available.

Apaolaza, P. S., del Pozo-Rodríguez, A., Torrecilla, J., Rodríguez-Gascón, A., Rodríguez, J. M., Friedrich, Ulrike and Weber, Bernhard H. F. (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, pp. 273-283. Fulltext not available.

Gliem, M., Müller, P. L., Mangold, E., Holz, Frank G., Bolz, H. J., Stöhr, Heidi and Weber, Bernhard H. F. (2015) Sorsby Fundus Dystrophy: Novel Mutations, Novel Phenotypic Characteristics, and Treatment Outcomes. Investigative Ophthalmology & Visual Science (IOVS) 56, pp. 2664-2276. Fulltext not available.

Friedrich, Ulrike, Datta, Shyamtanu, Schubert, Thomas, Plößl, Karolina, Schneider, Magdalena, Grassmann, Felix, Fuchshofer, Rudolf, Tiefenbach, Klaus-Jürgen, Längst, Gernot and 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, pp. 6361-6373. Fulltext not available.

Brandl, Caroline, Grassmann, Felix, Riolfi, Julia and Weber, Bernhard H. F. (2015) Tapping Stem Cells to Target AMD: Challenges and Prospects. Journal of Clinical Medicine 4, pp. 282-303.

Grosche, Antje , Hauser, Alexandra, Lepper, Marlen Franziska, Mayo, Rebecca, von Toerne, Christine , Merl-Pham, Juliane and Hauck, Stefanie M. (2015) The Proteome of Native Adult Müller Glial Cells From Murine Retina. Molecular & Cellular Proteomics 15 (2), pp. 462-480. Fulltext not available.

Grassmann, Felix, Fauser, Sascha and 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, pp. 194-202. Fulltext not available.

2014

Grassmann, Felix, Schoenberger, Peter G. A., Brandl, Caroline, Schick, Tina, Hasler, Daniele, Meister, Gunter, Fleckenstein, Monika, Lindner, Moritz, Helbig, Horst, Fauser, Sascha and 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. and 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.

Weber, Patricia (2014) Effekte von Interferon-B auf Transkription und Funktion von Mikroglia. PhD, Universität Regensburg.

Pauly, Diana, Nagel, Benedikt M., Reinders, Jörg , Killian, Tobias, Wulf, Matthias, Ackermann, Susanne, Ehrenstein, Boris, Zipfel, Peter F., Skerka, Christine and 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.

Pilz, P., Meyer-Marcotty, P., Eigenthaler, M., Weber, Bernhard H. F. and Stellzig-Eisenhauer, A. (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, pp. 226-238. Fulltext not available.

Roth, Helmut, Fritsche, Lars G., Meier, Christoph, Pilz, P., Eigenthaler, M., Meyer-Marcotty, P., Stellzig-Eisenhauer, A., Proff, Peter, Kanno, C. M. and Weber, Bernhard H. F. (2014) Expanding the spectrum of PTH1R mutations in patients with primary failure of tooth eruption. Clinical Oral Investigations 18, pp. 377-384. Fulltext not available.

Grassmann, Felix, Heid, Iris M. and Weber, Bernhard H. F. (2014) Genetic risk models in age-related macular degeneration. In: Ash, J. and Grimm, C., (eds.) Retinal Degenerative Diseases. Advances in Experimental Medicine and Biology, 801. Springer, New York, NY, pp. 291-300. ISBN 978-1-4614-3209-8 (online), 978-1-4614-3208-1 (print). Fulltext not available.

Gorski, M., Winkler, T. W., Stark, K., Müller-Nurasyid, M., Ried, J. S., Grallert, H., Weber, Bernhard H. F. and Heid, Iris M. (2014) Harmonization of study and reference data by PhaseLift: saving time when imputing study data. Genetic Epidemiology 38, pp. 381-388. Fulltext not available.

Brandl, Caroline, Zimmermann, Stephanie J., Milenkovic, Vladimir M., Rosendahl, S. M., Grassmann, Felix, Milenkovic, Andrea, Hehr, Ute, Federlin, Marianne, Wetzel, Christian H., Helbig, Horst and 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, pp. 551-564.

Ratnapriya, R., Zhan, X., Fariss, R. N. and Weber, Bernhard H. F. (2014) Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration. Human Molecular Genetics 23, pp. 5827-5837. Fulltext not available.

Gramer, G., Weber, Bernhard H. F. and 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), pp. 259-264.

Weber, Bernhard H. F. , Issa, Peter Charbel, Pauly, Diana , Herrmann, Philipp, Grassmann, Felix and Holz, Frank G. (2014) The role of the complement system in age-related macular degeneration. Deutsches Ärzteblatt international 111, pp. 133-138. Fulltext not available.

Karlstetter, M., Nothdurfter, C., Aslanidis, A., Moeller, K., Horn, F., Scholz, R., Neumann, H., Weber, Bernhard H. F. , Rupprecht, R. and Langmann, T. (2014) Translocator protein (18 kDa) (TSPO) is expressed in reactive retinal microglia and modulates microglial inflammation and phagocytosis. Journal of Neuroinflammation 11 (3). Fulltext not available.

Gliem, M., Holz, Frank G., Stöhr, Heidi, Weber, Bernhard H. F. and Issa, Peter Charbel (2014) X-linked juvenile retinoschisis in a consanguineous family: phenotypic variability and report of a homozygous female patient. Retina 34, pp. 2472-2408. Fulltext not available.

2013

Hlawatsch, Julia (2013) Sterile alpha motif containing 7 (Samd7) is a novel Crx-regulated transcriptional repressor in the retina. PhD, Universität Regensburg.

Lippe, Maria Elena (2013) Effekte von Curcumin auf Genexpression und Funktion proinflammatorisch aktivierter Mikroglia. PhD, 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. PhD, Universität Regensburg.

Dirscherl, Konstantin Richard Franz (2013) Luteolin verursacht globale Veränderungen im Transkriptom von Mikroglia und führt zu einem anti-inflammatorischen, neuroprotektiven Phänotyp. PhD, 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. PhD, Universität Regensburg.

Keilhauer, C. N., Fritsche, L. G., Guthoff, R., Haubitz, I. and 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), pp. 72-79. Fulltext not available.

Fung, A. T., Stöhr, Heidi, Weber, Bernhard H. F. , Holz, F. G. and Yannuzzi, L. A. (2013) Atypical sorsby fundus dystrophy with a novel tyr159cys timp-3 mutation. Retinal Cases & Brief Reports 7, pp. 71-74. Fulltext not available.

Grosche, Antje, Pannicke, Thomas, Chen, Ju, Reichenbach, A. and Bringmann, A. (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, pp. 209-214.

Schreml, Stephan, Weber, Bernhard H. F. , Schröder, J., Siegmund, H., Schaller, J., Vogt, T., Landthaler, Michael and Babilas, Philipp (2013) Familial primary localized cutaneous amyloidosis with an oncostatin M receptor-β mutation, Pro694Leu. Clinical and Experimental Dermatology 38, pp. 932-935. Fulltext not available.

Couch, F. J., Wang, X., McGuffog, L., Lee, A., Olswold, C., Kuchenbaecker, K. B., Soucy, P., Weber, Bernhard H. F. and et, al. (2013) Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk. PLoS Genetics 9 (3), e1003212.

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. and et, al. (2013) Identification of a rare coding variant in complement 3 associated with age-related macular degeneration. Nature Genetics 45, pp. 1375-1379. Fulltext not available.

Fritsche, Lars G., Chen, W., Schu, M., Weber, Bernhard H. F. and et, al. (2013) Seven new loci associated with age-related macular degeneration. Nature Genetics 45, pp. 433-439. Fulltext not available.

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. and Weber, Bernhard H. F. (2013) [Primary failure of eruption (PFE). Clinical and molecular genetics analysis] Article in French. L' orthodontie française 84 (3), pp. 241-250. Fulltext not available.

2012

Nagel, Kai (2012) Mutationsanalysen in BBS2 und BBS4 bei Patienten mit dem Bardet-Biedl Syndrom. PhD, Universität Regensburg.

Döringer, Judith (2012) Klinische Charakterisierung der hereditären spastischen Paraplegie mit mentaler Retardierung und/oder dünnem Corpus callosum. PhD, Universität Regensburg.

Grassmann, Felix, Fritsche, Lars G., Keilhauer, Claudia N., Heid, Iris M. and Weber, Bernhard H. F. (2012) Modelling the Genetic Risk in Age-Related Macular Degeneration. PLoS ONE 7, e37979.

Karlstetter, Marcus (2012) Modulation and function of microglial phenotypes. PhD, Universität Regensburg.

Harpaintner, Claudia (2012) Untersuchung des Promotors und der PU.1 abhängigen Regulation des Stap-1 Gens in Mikrogliazellen und Makrophagen. PhD, Universität Regensburg.

Aichinger, Corinna (2012) Funktionelle Untersuchungen zu Krankheits-assoziierten Mutationen in den Genen ABCA4 und VMD2. PhD, Universität Regensburg.

Fritsche, L. G., Fleckenstein, M., Fiebig, B. S. and Weber, Bernhard H. F. (2012) A Subgroup of Age-Related Macular Degeneration is Associated With Mono-Allelic Sequence Variants in the ABCA4 Gene. Investigative Ophthalmology & Visual Science (IOVS) 53, pp. 2112-2118. Fulltext not available.

Spurdle, A. B., Whiley, P. J., Thompson, B., Feng, B., Healey, S., Brown, M. A., Pettigrew, C., kConFab, ., Van Asperen, C. J., Weber, Bernhard H. F. , Dutch Belgium UV Consortium, ., German Consortium of Hereditary Breast and Ovarian Cancer, ., French COVAR group collaborators, . and on behalf of the ENIGMA Consortium, . (2012) BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk. Journal of Medical Genetics 49 (8), pp. 525-532.

Sofat, R., Casas, J. P., Webster, A. R., Bird, A. C., Mann, S. S., Yates, J. R., Moore, A. T., Sepp, T., Cipriani, V., Bunce, C., Khan, J. C., Shahid, H., Swaroop, A., Abecasis, G., Branham, K. E., Zareparsi, S., Bergen, A. A., Klaver, C. C., Baas, D. C., Zhang, K., Chen, Y., Gibbs, D., Weber, Bernhard H. F. and et, al. (2012) Complement factor H genetic variant and age-related macular degeneration: effect size, modifiers and relationship to disease subtype. International Journal of Epidemiology 41 (1), pp. 250-262. Fulltext not available.

Delgado, D., del Pozo-Rodríguez, A., Solinís, M. A., Avilés-Triqueros, M., Weber, Bernhard H. F. , Fernández, E. and Gascón, A. R. (2012) Dextran and protamine-based solid lipid nanoparticles as potential vectors for the treatment of X-linked juvenile retinoschisis. Human Gene Therapy 23 (4), pp. 345-355. Fulltext not available.

Solomon, B. D., Bear, K. A., Wyllie, A. and Hehr, Ute (2012) Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog. Journal of Medical Genetics 49, pp. 473-479.

Kellner, U., Renner, A. B., Herbst, S. M., Kellner, S., Weinitz, S. and Weber, Bernhard H. F. (2012) Hereditäre Netzhautdystrophien. Klinische Monatsblätter für Augenheilkunde 229 (2), pp. 171-196.

Zhour, A., Bolz, S., Grimm, C., Willmann, G., Schatz, A., Weber, Bernhard H. F. , Zrenner, E. and Fischer, M. D. (2012) In vivo imaging reveals novel aspects of retinal disease progression in Rs1h(-/Y) mice but no therapeutic effect of carbonic anhydrase inhibition. Veterinary Ophthalmology 15 (Suppl2), pp. 123-133. Fulltext not available.

Baas, D. C., Ho, L., Tanck, M. W., Fritsche, L. G., Merriam, J. E., van het Slot, R., Koeleman, B. P., Gorgels, T. G., van Duijn, C. M., Uitterlinden, A. G., de Jong, P. T., Hofman, A., ten Brink, J. B., Vingerling, J. R., Klaver, C. C., Dean, M., Weber, Bernhard H. F. and et, al. (2012) Multicenter cohort association study of SLC2A1 single nucleotide polymorphisms and age-related macular degeneration. Molecular vision 18, pp. 657-674.

Molday, R. S., Kellner, U. and Weber, Bernhard H. F. (2012) X-linked juvenile retinoschisis: clinical diagnosis, genetic analysis, and molecular mechanisms. Progress in Retinal and Eye Research 31 (3), pp. 195-212.

2011

Huber, Monika (2011) Suche nach einem neuen Brustkrebsgen mittels positioneller Kandidatengenanalyse. PhD, Universität Regensburg.

Ebert, Stefanie (2011) Molekulare Charakterisierung der Mikrogliaaktivierung bei retinaler Degeneration im Retinoschisin-defizienten Mausmodell. PhD, Universität Regensburg.

Loenhardt, Thomas Andreas (2011) Untersuchungen zu den molekularen Ursachen von Erkrankungen der Netzhaut - Die X-gebundene juvenile Retinoschisis und die altersabhängige Makuladegeneration. PhD, Universität Regensburg.

Brandl, Caroline (2011) Isolierung und Charakterisierung ectomesenchymaler Progenitorzellen aus der juvenilen murinen Cornea. PhD, Universität Regensburg.

Rauscher, Florian (2011) Biochemische Analyse der Dimerisierungseigenschaften der Bestrophine und molekularbiologische Charakterisierung des VMD2-Promotors. PhD, Universität Regensburg.

Keilhauer, C. N., Fritsche, L. G. and Weber, Bernhard H. F. (2011) Age-related macular degeneration with discordant late stage phenotypes in monozygotic twins. Ophthalmic Genetics 32, pp. 237-244. Fulltext not available.

Smailhodzic, D., Fleckenstein, M., Theelen, T., Boon, C. J., van Huet, R. A., van de Ven, J. P., Den Hollander, A. I., Schmitz-Valckenberg, S., Hoyng, C. B., Weber, Bernhard H. F. , Holz, F. G. and Klevering, B. J. (2011) Central Areolar Choroidal Dystrophy (CACD) and Age-related macular degeneration (AMD): differentiating characteristics in multimodal imaging. Investigative ophthalmology and visual science 52 (12), pp. 8908-8918.

Lauer, N., Mihlan, M., Hartmann, A., Schlötzer-Schrehardt, U., Keilhauer, C., Scholl, H. P., Charbel Issa, P., Holz, F., Weber, Bernhard H. F. , Skerka, C. and Zipfel, P. F. (2011) Complement regulation at necrotic cell lesions is impaired by the age-related macular degeneration-associated factor-H His402 risk variant. The Journal of Immunology 187 (8), pp. 4374-4383. Fulltext not available.

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

Milenkovic, Vladimir M., Röhrl, Elena, Weber, Bernhard H. F. and Strauss, Olaf (2011) Disease-associated missense mutations in bestrophin-1 affect cellular trafficking and anion conductance. Journal of Cell Science 124, pp. 2988-2996.

Fernández-Martínez, L., Letteboer, S., Mardin, C. Y., Weisschuh, N., Gramer, E., Weber, Bernhard H. F. , Rautenstrauss, B., Ferreira, P. A., Kruse, F. E., Reis, A., Roepman, R. and Pasutto, F. (2011) Evidence for RPGRIP1 gene as risk factor for primary open angle glaucoma. European Journal of Human Genetics 19 (4), pp. 445-451. Fulltext not available.

McKay, G. J., Patterson, C. C., Chakravarthy, U., Dasari, S., Klaver, C. C., Vingerling, J. R., Ho, L., de Jong, P. T., Fletcher, A. E., Young, I. S., Seland, J. H., Rahu, M., Soubrane, G., Tomazzoli, L., Topouzis, F., Vioque, J., Weber, Bernhard H. F. and et, al. (2011) Evidence of association of APOE with age-related macular degeneration - a pooled analysis of 15 studies. Human Mutation 32 (12), pp. 1407-1416. Fulltext not available.

Weber, Bernhard H. F. (2011) Extending and expanding the Darwinian synthesis: the role of complex systems dynamics. Studies in History and Philosophy of Science Part C Studies in History and Philosophy of Biological and Biomedical Sciences 42 (1), pp. 75-81. Fulltext not available.

Yang, R., Dick, M., Marme, F., Schneeweiss, A., Langheinz, A., Hemminki, K., Sutter, C., Bugert, P., Wappenschmidt, B., Varon, R., Schott, S., Weber, Bernhard H. F. , Niederacher, D., Arnold, N., Meindl, A., Bartram, C. R., Schmutzler, R. K., Müller, H., Arndt, V., Brenner, H., Sohn, C. and Burwinkel, B. (2011) Genetic variants within miR-126 and miR-335 are not associated with breast cancer risk. Breast Cancer Research and Treatment 127 (2), pp. 549-554. Fulltext not available.

Krumbiegel, M., Pasutto, F., Schlötzer-Schrehardt, U., Uebe, S., Zenkel, M., Mardin, C. Y., Weisschuh, N., Paoli, D., Gramer, E., Becker, C., Ekici, A. B., Weber, Bernhard H. F. , Nürnberg, P., Kruse, F. E. and Reis, A. (2011) Genome-wide association study with DNA pooling identifies variants at CNTNAP2 associated with pseudoexfoliation syndrome. European Journal of Human Genetics 19 (2), pp. 186-193. Fulltext not available.

Kraus, Dominik, Karlstetter, Marcus, Walcak, Y., Hilfinger, D. and Langmann, Thomas (2011) Retinal expression of the X-linked juvenile retinoschisis (RS1) gene is controlled by an upstream CpG island and two opposing CRX-bound regions. Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms 1809, pp. 245-254. Fulltext not available.

Friedrich, U., Myers, C. A., Fritsche, L. G., Milenkovic, Andrea, Wolf, A., Corbo, J. C. and Weber, Bernhard H. F. (2011) Risk- and non-risk-associated variants at the 10q26 AMD locus influence ARMS2 mRNA expression but exclude pathogenic effects due to protein deficiency. Human Molecular Genetics 20, pp. 1387-1399. Fulltext not available.

Friedrich, U., Stöhr, Heidi, Hilfinger, D., Loenhardt, T., Schachner, M., Langmann, Thomas and Weber, Bernhard H. F. (2011) The Na/K-ATPase is obligatory for membrane anchorage of retinoschisin, the protein involved in the pathogenesis of X-linked juvenile retinoschisis. Human Molecular Genetics 20, pp. 1132-1142. Fulltext not available.

Grunewald, Thomas G. P., Herbst, Saskia M., Heinze, Jürgen and Burdach, Stefan (2011) Understanding tumor heterogeneity as functional compartments--superorganisms revisited. Journal of translational medicine 9, p. 79.

McKay, G. J., Silvestri, G., Chakravarthy, U., Dasari, S., Fritsche, L. G., Weber, Bernhard H. F. and et, al. (2011) Variations in apolipoprotein E frequency with age in a pooled analysis of a large group of older people. American Journal of Epidemiology 173 (12), pp. 1357-1364. Fulltext not available.

2010

Yang, R., Schlehe, B., Hemminki, K., Sutter, C., Bugert, P., Wappenschmidt, B., Volkmann, J., Varon, R., Weber, Bernhard H. F. , Niederacher, D., Arnold, N., Meindl, A., Bartram, C., Schmutzler, R. K. and Burwinkel, B. (2010) A genetic variant in the pre-miR-27a oncogene is associated with a reduced familial breast cancer risk. Breast Cancer Research and Treatment 121 (3), pp. 693-702. Fulltext not available.

Fritsche, Lars G., Lauer, N., Hartmann, Andrea, Stippa, S., Keilhauer, Claudia N., Oppermann, M., Pandey, M. K., Köhl, Jörg, Zipfel, P. F. and Weber, Bernhard H. F. (2010) An imbalance of human complement regulatory proteins CFHR1, CFHR3 and factor H influences risk for age-related macular degeneration (AMD). Human Molecular Genetics 19, pp. 4694-4704. Fulltext not available.

Krumbiegel, M., Pasutto, F., Mardin, C. Y., Weisschuh, N., Paoli, D., Gramer, E., Weber, Bernhard H. F. , Kruse, F. E., Schlötzer-Schrehardt, U. and Reis, A. (2010) Apolipoprotein E genotypes in pseudoexfoliation syndrome and pseudoexfoliation glaucoma. Journal of Glaucoma 19 (8), pp. 561-565. Fulltext not available.

Corbo, Joseph C., 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. and Langmann, Thomas (2010) CRX ChIP-seq reveals the cis-regulatory architecture of mouse photoreceptors. Genome research 20 (11), pp. 1512-25. Fulltext not available.

He, Shuying, Pirity, Melinda K., Wang, Wei-Lin, Wolf, Louise, Chauhan, Bharesh K., Cveklova, Kveta, Tamm, Ernst R., Ashery-Padan, Ruth, Metzger, Daniel, Nakai, Akira, Chambon, Pierre, Zavadil, Jiri and Cvekl, Ales (2010) Chromatin remodeling enzyme Brg1 is required for mouse lens fiber cell terminal differentiation and its denucleation. Epigenetics & chromatin 3 (1), p. 21.

Pasutto, F., Chavarria-Soley, G., Mardin, C. Y., Michels-Rautenstrauss, K., Ingelman-Sundberg, M., Fernández-Martínez, L., Weber, Bernhard H. F. , Rautenstrauss, B. and Reis, A. (2010) Heterozygous loss-of-function variants in CYP1B1 predispose to primary open-angle glaucoma. Investigative ophthalmology and visual science 51 (1), pp. 249-254.

Schroeder, C., Stutzmann, F., Weber, Bernhard H. F. , Riess, O. and Bonin, M. (2010) High-throughput resequencing in the diagnosis of BRCA1/2 mutations using oligonucleotide resequencing microarrays. Breast Cancer Research and Treatment 122 (1), pp. 287-297. Fulltext not available.

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. and et, al. (2010) Identification of a DMBT1 polymorphism associated with increased breast cancer risk and decreased promoter activity. Human Mutation 31 (1), pp. 60-66. Fulltext not available.

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. and Weber, Bernhard H. F. (2010) Nonsense mutations in FAM161A cause RP28-associated recessive retinitis pigmentosa. American Journal of Human Genetics 87, pp. 376-381. Fulltext not available.

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. and Weber, Bernhard H. F. (2010) Primary failure of eruption (PFE)--clinical and molecular genetics analysis. Journal of Orofacial Orthopedics/Fortschritte der Kieferorthopädie 71 (1), pp. 6-16. Fulltext not available.

Brandl, C., Kaesbauer, J., Weber, Bernhard H. F. and Morsczeck, C. (2010) Spontaneous immortalization of neural crest-derived corneal progenitor cells after chromosomal aberration. Cell Proliferation 43, pp. 372-377. Fulltext not available.

2009

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. and 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), pp. 59-64. Fulltext not available.

Fritsche, L. G., Freitag-Wolf, S., Bettecken, T., Meitinger, T., Keilhauer, C. N., Krawczak, Michael and Weber, Bernhard H. F. (2009) Age-related macular degeneration and functional promoter and coding variants of the apolipoprotein E gene. Human Mutation 30, pp. 1048-1053. Fulltext not available.

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. and 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.

Ebert, Stefanie, Weigelt, K., Walczak, Yana, Drobnik, W., Mauerer, Richard, Hume, David A. and Weber, Bernhard H. F. (2009) Docosahexaenoic acid attenuates microglial activation and delays early retinal degeneration. Journal of Neurochemistry 110, pp. 1863-1875. Fulltext not available.

Kellner, U., Kellner, S., Renner, A. B., Fiebig, B. S., Weinitz, S. and 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), pp. 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. and 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), pp. 2796-2801.

Allikmets, R., Bergen, A., Dean, M., Guymer, R., Hagemann, G., Klaver, C., Stefansson, K., Weber, Bernhard H. F. and International AMD Genetics Consortium, (2009) Geographic atrophy in age-related macular degeneration and TLR3. The New England Journal of Medicine 360 (21), pp. 2251-2254. Fulltext not available.

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. and 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), pp. 447-456. Fulltext not available.

Babilas, Philipp, Fiebig, B. S., Aslanidis, C., Hansen, J., Röcken, C., Schroeder, J., Schmitz, G., Weber, Bernhard H. F. , Landthaler, Michael and Vogt, T. (2009) Identification of an oncostatin M receptor mutation associated with familial primary cutaneous amyloidosis. British Journal of Dermatology 161, pp. 944-947. Fulltext not available.

Brandl, Caroline, Florian, Christian, Driemel, Oliver, Weber, Bernhard H. F. and Morsczeck, Christian (2009) Identification of neural crest-derived stem cell-like cells from the corneal limbus of juvenile mice. Experimental Eye Research 89, pp. 209-217. Fulltext not available.

Langmann, Thomas, Ebert, Stefanie, Walcak, Y., Weigelt, K., Ehrengruber, M. U., Stiewe, T. and Weber, Bernhard H. F. (2009) Induction of Early Growth Response-1 Mediates Microglia Activation In Vitro But is Dispensable In Vivo. NeuroMolecular Medicine 11, pp. 87-96. Fulltext not available.

Kellner, S., Kellner, U., Weber, Bernhard H. F. , Fiebig, B., Weinitz, S. and Ruether, K. (2009) Lipofuscin- and melanin-related fundus autofluorescence in patients with ABCA4-associated retinal dystrophies. American Journal of Ophthalmology 147 (5), pp. 895-902. Fulltext not available.

Kellner, U., Kellner, S., Weber, Bernhard H. F. , Fiebig, B., Weinitz, S. and Ruether, K. (2009) Lipofuscin- and melanin-related fundus autofluorescence visualize different retinal pigment epithelial alterations in patients with retinitis pigmentosa. Eye (Lond) 23 (6), pp. 1349-1359. Fulltext not available.

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. and Oesterreich, S. (2009) Nuclear receptor coregulator SNP discovery and impact on breast cancer risk. BMC Cancer 9, p. 438. Fulltext not available.

Renner, A. B., Fiebig, B., Weber, Bernhard H. F. , Wissinger, B., Andreasson, S., Gal, A., Cropp, E., Kohl, S. and 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), pp. 518-530. Fulltext not available.

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. and 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), pp. 407-413. Fulltext not available.

Renner, Agnes B., Fiebig, B. S., Cropp, E., Weber, Bernhard H. F. and 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, pp. 907-912. Fulltext not available.

Qi, J. H., Dai, G., Luthert, P., Chaurasia, S., Hollyfield, J., Weber, Bernhard H. F. , Stöhr, H. and Anand-Apte, B. (2009) S156C mutation in tissue inhibitor of metalloproteinases-3 induces increased angiogenesis. The Journal of Biological Chemistry 284, pp. 19927-19936.

Stöhr, H., Heisig, J. B., Benz, P. M., Schöberl, S., Milenkovic, V. M., Strauss, O., Aartsen, W., Wijnholds, J., Weber, Bernhard H. F. and 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), pp. 6809-6818.

Allikmets, R., Dean, M., Hageman, G. S., Baird, P. N., Klaver, C. C., Bergen, A. A., Weber, Bernhard H. F. and International AMD Genetics Consortium, (2009) The SERPING1 gene and age-related macular degeneration. The Lancet 374 (9693), pp. 875-876. Fulltext not available.

Farwick, A., Dasch, B., Weber, Bernhard H. F. , Pauleikhoff, D., Stoll, M. and 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), pp. 2238-2244. Fulltext not available.

2008

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. PhD, Universität Regensburg.

Neureuther, Katharina (2008) Association of single nucleotide polymorphisms in the LPA gene region with serum Lp(a) levels and myocardial infarction. PhD, Universität Regensburg.

Ecker, Josef (2008) Isomer specific effects of conjugated linoleic acid on macrophage ABCG1 expression. PhD, Universität Regensburg.

Janssen, A., Hoellenriegel, J., Fogarasi, M., Schrewe, H., Seeliger, M., Tamm, Ernst R. , Ohlmann, Andreas , May, C. A., Weber, Bernhard H. F. and Stöhr, Heidi (2008) Abnormal vessel formation in the choroid of mice lacking tissue inhibitor of metalloprotease-3. Investigative Ophthalmology & Visual Science (IOVS) 49, pp. 2812-2822. Fulltext not available.

Fritsche, L. G., Loenhardt, T., Janssen, A., Fisher, S. A., Rivera, A., Keilhauer, C. N. and Weber, Bernhard H. F. (2008) Age-related macular degeneration is associated with an unstable ARMS2 (LOC387715) mRNA. Nature Genetics 40, pp. 892-896. Fulltext not available.

Weigelt, K., Moehle, C., Stempfl, T., Weber, Bernhard H. F. and Langmann, T. (2008) An integrated workflow for analysis of ChIP-chip data. BioTechniques 45 (2), pp. 131-140. Fulltext not available.

Pasutto, F., Krumbiegel, M., Mardin, C. Y., Paoli, D., Lämmer, R., Weber, Bernhard H. F. , Kruse, F. E., Schlötzer-Schrehardt, U. and 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), pp. 1459-1463.

Langmann, Thomas, Lai, C. C., Weigelt, K., Tam, B. M., Warneke-Wittstock, R., Moritz, O. L. and Weber, Bernhard H. F. (2008) CRX controls retinal expression of the X-linked juvenile retinoschisis (RS1) gene. Nucleic Acids Research 36, pp. 6523-6334.

Ebert, Stefanie, Schoeberl, Tobias, Walczak, Yana, Stoecker, Katharina, Stempfl, Thomas, Moehle, Christoph, Weber, Bernhard H. F. and Langmann, Thomas (2008) Chondroitin sulfate disaccharide stimulates microglia to adopt a novel regulatory phenotype. Journal of Leukocyte Biology 84, pp. 736-740. Fulltext not available.

Renner, A. B., Kellner, U., Fiebig, B., Cropp, E., Foerster, M. H. and 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), pp. 97-109. Fulltext not available.

Janssen, A., Min, S. H., Molday, L. ., Tanimoto, N., Seeliger, N. W., Hauswirth, W. W., Molday, R. S. and 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, pp. 1010-1017.

Fogarasi, Marton, Janssen, A., Weber, Bernhard H. F. and Stöhr, Heidi (2008) Molecular dissection of TIMP3 mutation S156C associated with Sorsby fundus dystrophy. Matrix Biology 27, pp. 381-392. Fulltext not available.

Milenkovic, Vladimir M., Langmann, Thomas, Schreiber, Rainer , Kunzelmann, Karl and Weber, Bernhard H. F. (2008) Molecular evolution and functional divergence of the bestrophin protein family. BMC Evolutionary Biology 8, p. 72.

Florian, Christian, Langmann, Thomas, Weber, Bernhard H. F. and Morsczeck, Christian (2008) Murine Müller cells are progenitor cells for neuronal cells and fibrous tissue cells. Biochemical and Biophysical Research Communications 374, pp. 187-191. Fulltext not available.

Decker, W., Stellzig-Eisenhauer, A., Fiebig, B. S., Rau, C., Kress, W., Saar, K., Rüschendorf, F., Hubner, N., Grimm, T. and Weber, Bernhard H. F. (2008) PTHR1 loss-of-function mutations in familial, nonsyndromic primary failure of tooth eruption. American Journal of Human Genetics 83, pp. 781-786. Fulltext not available.

Pasutto, F., Mardin, C. Y., Michels-Rautenstrauss, K., Weber, Bernhard H. F. , Sticht, H., Chavarria-Soley, G., Rautenstrauss, B., Kruse, F. and Reis, A. (2008) Profiling of WDR36 missense variants in German patients with glaucoma. Investigative ophthalmology and visual science 49 (1), pp. 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. and Burwinkel, B. (2008) SNPs in ultraconserved elements and familial breast Cancer Risk. Carcinogenesis 29 (2), pp. 351-355. Fulltext not available.

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

2007

Scholl, H. P., Fleckenstein, M., Issa, P. C., Keilhauer, C., Holz, F. G. and Weber, Bernhard H. F. (2007) An update on the genetics of age-related macular degeneration. Molecular vision 13, pp. 196-205.

Fisher, S. A., Rivera, A., Fritsche, L. G., Babadjanova, G., Petrov, S. and 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), pp. 576-578. Fulltext not available.

Fisher, S. A., Rivera, A., Fritsche, L. G., Keilhauer, C. N., Lichtner, P., Meitinger, T., Rudolph, G. and 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), pp. 406-413. Fulltext not available.

Weigelt, K., Ernst, W., Walczak, Yana, Ebert, Stefanie, Loenhardt, T., Klug, Maja, Rehli, Michael and Weber, Bernhard H. F. (2007) Dap12 expression in activated microglia from retinoschisin-deficient retina and its PU.1-dependent promoter regulation. Journal of Leukocyte Biology (JLB) 82, pp. 1564-1574. Fulltext not available.

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. and Zipfel, P. F. (2007) Defective complement control of Factor H (Y402H) and FHL-1 in age-related macular degeneration. Molecular Immunology 44 (13), pp. 3398-3406. Fulltext not available.

Gehrig, A., Langmann, T., Horling, F., Janssen, A., Bonin, M., Walter, M., Poths, S. and 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), pp. 891-900.

Milenkovic, Vladimir M., Rivera, A., Horling, F. and 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, pp. 1313-1321. Fulltext not available.

Hehr, Ute, Bauer, Peter, Winner, Beate, Bogdahn, Ulrich and Weber, Bernhard H. F. (2007) Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia. Annals of Neurology 27, pp. 381-392. Fulltext not available.

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. and 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), pp. 267-277. Fulltext not available.

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. and Trauzettel-Klosinski, S. (2007) Quantifying fixation in patients with Stargardt disease. Vision Research 47 (15), pp. 2076-2085. Fulltext not available.

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. and 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), pp. 423-426. Fulltext not available.

Stojic, J., Stöhr, H. and 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, p. 42.

2006

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. and Burwinkel, Barbara (2006) Associations of genetic variants in the estrogen receptor coactivators PPARGC1A, PPARGC1B and EP300 with familial breast cancer. Carcinogenesis 27 (11), pp. 2201-2208. Fulltext restricted.

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. and Burwinkel, Barbara (2006) Interaction of Werner and Bloom syndrome genes with p53 in familial breast cancer. Carcinogenesis 27 (8), pp. 1655-1660. Fulltext restricted.

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 and Riess, Olaf (2006) The S18Y polymorphism in the UCHL1 gene is a genetic modifier in Huntington's disease. Neurogenetics 7 (1), pp. 27-30. Fulltext restricted.

Keilhauer, C. N., Meigen, T. and 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), pp. 1020-1027. Fulltext not available.

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. and et, al. (2006) Communicating BRCA1 and BRCA2 genetic test results. Journal of clinical oncology 24 (18), pp. 2969-2970. Fulltext not available.

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. and Molday, R. S. (2006) Disease mechanisms and gene therapy in a mouse model for x-linked retinoschisis. Advances in experimental medicine and biology 572, pp. 283-289. Fulltext not available.

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. and et, al. (2006) Genetic analysis of candidate genes modifying the age-at-onset in Huntington’s disease. Human Genetics 120 (2), pp. 285-292. Fulltext not available.

Preisler-Adams, S., Schönbuchner, I., Fiebig, B., Welling, B., Dworniczak, B. and 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), pp. 44-49. Fulltext not available.

Keilhauer, C. N., Meigen, T., Stöhr, H. and 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, pp. 139-144. Fulltext not available.

Gehrig, A., Janssen, A., Horling, F., Grimm, C. and Weber, Bernhard H. F. (2006) The role of caspases in photoreceptor cell death of the retinoschisin-deficient mouse. Cytogenetic and Genome Research 115, pp. 35-44. Fulltext not available.

2005

Nanda, I., Krämer, F., Weber, Bernhard H. F. , Schempp, W. and Schmid, M. (2005) Comparative mapping of human claudin-1 (CLDN1) in great apes. Cytogenetic and Genome Research 108 (1-3), pp. 229-233. Fulltext not available.

Rivera, A., Fisher, Sheila A., Fritsche, L. G., Keilhauer, Claudia N., Lichtner, Peter, Meitinger, Thomas and 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, pp. 3227-3236. Fulltext not available.

Renner, A. B., Tillack, H., Kraus, H., Kramer, F., Mohr, N., Weber, Bernhard H. F. , Foerster, M. H. and Kellner, U. (2005) Late Onset is Common in Best Macular Dystrophy Associated with VMD2 Gene Mutations. Ophthalmology 112 (4), pp. 586-592. Fulltext not available.

Stöhr, H., Molday, L. L., Molday, R. S., Weber, Bernhard H. F. , Biedermann, B., Reichenbach, A. and 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), pp. 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. and et, al. (2005) Meta-analysis of genome scans of age-related macular degeneration. Human Molecular Genetics 14 (15), pp. 2257-2264. Fulltext not available.

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. and 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), pp. 644-651.

Stöhr, H., Milenkowic, V. and 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), pp. 116-121. Fulltext not available.

Scholl, H. P. N., Weber, Bernhard H. F. , Nöthen, M. M., Wienker, T. and 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), pp. 1029-1035. Fulltext not available.

2004

Krämer, F., Stöhr, H. and Weber, Bernhard H. F. (2004) Cloning and characterization of the murine Vmd2 RFP-TM gene family. Cytogenetic and Genome Research 105 (1), pp. 107-114. Fulltext not available.

Bendig, I., Mohr, N., Krämer, F. and 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), pp. 22-26. Fulltext not available.

Schulz, H., Rahman, F. A., Fadl El Moula, F. M., Stojic, J., Gehrig, A. and 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), pp. 74-81. Fulltext not available.

Renner, A. B., Tillack, H., Kraus, H., Kohl, S., Wissinger, B., Mohr, N., Weber, Bernhard H. F. , Kellner, U. and Foerster, M. H. (2004) Morphology and Functional Characteristics in Adult Vitelliform Macular Dystrophy. Retina 24 (6), pp. 929-939. Fulltext not available.

Wappenschmidt, B., Wardelmann, E., Gehrig, A., Schondorf, T., Maass, N., Bonatz, G., Gassel, A. M., Pietsch, T., Mallmann, P., Weber, Bernhard H. F. and Schmutzler, R. K. (2004) PTEN mutations do not cause nuclear beta-catenin accumulation in endometrial carcinomas. Human Pathology 35 (10), pp. 1260-1265. Fulltext not available.

Schulz, H., Götz, T., Kaschkötö, J. and Weber, Bernhard H. F. (2004) The Retinome - defining a reference transcriptome of the adult mammalian retina/retinal pigment epithelium. BMC Genomics 5, p. 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. and Riess, O. (2004) Trinucleotide repeat expansion in SCA17/TBP in white patients with Huntington’s disease-like phenotype. Journal of Medical Genetics 41 (3), pp. 230-232. Fulltext not available.

2003

Stöhr, H., Stojic, J. and Weber, Bernhard H. F. (2003) Cellular localization of the MPP4 protein in the mammalian retina. Investigative ophthalmology and visual science 44 (12), pp. 5067-5074.

Soboleva, G., Geis, B., Schrewe, H. and 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), pp. 149-156. Fulltext not available.

Krämer, F., Mohr, N., Kellner, U., Rudolph, G. and Weber, Bernhard H. F. (2003) Ten novel mutations in VMD2 associated with Best macular dystrophy (BMD). Human Mutation 22 (5), p. 418. Fulltext not available.

Seeliger, M. W., Weber, Bernhard H. F. , Besch, D., Zrenner, E., Schrewe, H. and Mayser, H. (2003) mfERG waveform characteristics in the RS1h mouse model featuring a `negative' ERG. Documenta Ophthalmologica 107 (1), pp. 37-44. Fulltext not available.

2002

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. and Schrewe, H. (2002) A mouse model for Sorsby fundus dystrophy. Investigative ophthalmology and visual science 43 (8), pp. 2732-2740.

Stöhr, H., Berger, C., Fröhlich, S. and 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), pp. 223-231. Fulltext not available.

Scholl, H. P. N., Besch, D., Vonthein, R., Weber, Bernhard H. F. and 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), pp. 1248-1256.

Thompson, D., Easton, D. F. and Breast Cancer Linkage Consortium, . (2002) Cancer Incidence in BRCA1 Mutation Carriers. Journal of the National Cancer Institute 94 (18), pp. 1358-1365. Fulltext not available.

Schulz, H. L., Stöhr, H. and Weber, Bernhard H. F. (2002) Characterization of three novel isoforms of the metabotrobic glutamate receptor 7 (GRM7). Neuroscience Letters 326 (1), pp. 37-40. Fulltext not available.

Stöhr, H., Mohr, N., Fröhlich, S., Bhattacharya, S. S. and 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), pp. 18-25. Fulltext not available.

Meindl, A., Weber, Bernhard H. F. and 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), pp. 472-480. Fulltext not available.

Schulz, H. L., Stöhr, H., White, K., van Driel, M. A., Hoyng, C. B., Cremers, F. and 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, pp. 67-71.

Mooy, C. M., Van Den Born, L. I., Baarsma, S., Paridaens, D. A., Kraaijenbrink, T., Bergen, A. and Weber, Bernhard H. F. (2002) Hereditary X-linked juvenile retinoschisis: a review of the role of müller cells. Archives of Ophthalmology 120 (7), pp. 979-984. Fulltext not available.

Weber, Bernhard H. F. , Schrewe, H., Molday, L. L., Gehrig, A., White, K. L., Seeliger, M. W., Jaissle, G. B., Friedburg, C., Tamm, E. and 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), pp. 6222-6227.

Frisch, I. B., Haag, P., Steffen, H., Weber, Bernhard H. F. and Holz, F. G. (2002) Kjellin’s syndrome: Fundus autofluorescence, angiographic, and electrophysiologic findings. Ophthalmology 109 (8), pp. 1484-1491. Fulltext not available.

Rudolph, G., Kalpadakis, P., Haritoglou, C., Rivera, A. and 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), pp. 590-596.

Gerth, C., Andrassi-Darida, M., Bock, M., Preising, M. N., Weber, Bernhard H. F. and 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, pp. 628-638. Fulltext not available.

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. and 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), pp. 197-203. Fulltext not available.

Wutz, K., Sauer, C., Zrenner, E., Lorenz, B., Alitalo, T., Broghammer, M., Hergersberg, M., de La Chapelle, A., Weber, Bernhard H. F. , Wissinger, B., Meindl, A. and Pusch, C. M. (2002) Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina. European Journal of Human Genetics 10 (8), pp. 449-456. Fulltext not available.

Stöhr, H., Marquardt, A., Nanda, I., Schmid, M. and 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), pp. 281-284. Fulltext not available.

Bauer, I., Gencik, M., Laccone, F., Peters, H., Weber, Bernhard H. F. and 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), p. 662. Fulltext not available.

2001

White, K., Held, K. R. and Weber, Bernhard H. F. (2001) A BRCA2 germ-line mutation in familial pancreatic carcinoma. International Journal of Cancer 91 (5), pp. 742-744. Fulltext not available.

Scholl, H. P. N., Langrova, H., Weber, Bernhard H. F. , Zrenner, E. and 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), pp. 71-80. Fulltext not available.

Stöhr, H. and 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), pp. 377-384. Fulltext not available.

Sauer, C. G., White, K., Kellner, U., Rudolph, G., Jurklies, B., Pauleikhoff, D. and Weber, Bernhard H. F. (2001) EFEMP1 is not associated with sporadic early onset drusen. Ophthalmic Genetics 22, pp. 27-34. Fulltext not available.

Oldenburg, J., Ivaskevicius, V., Rost, S., Fregin, A., White, K., Holinski-Feder, E., Müller-Reible, C. R. and Weber, Bernhard H. F. (2001) Evaluation of DHPLC in the analysis of hemophilia A. Journal of Biochemical and Biophysical Methods 47 (1-2), pp. 39-51. Fulltext not available.

Sauer, C. G., White, K., Stöhr, H., Grimm, T., Hutchinson, A., Bernstein, P. S., Lewis, R. A., Simonelli, F., Pauleikhoff, D., Allikmets, R. and 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), pp. 969-975. Fulltext not available.

Molday, L. L., Hicks, D., Sauer, C. G., Weber, Bernhard H. F. and Molday, R. S. (2001) Expression of X-linked retinoschisis protein RS1 in photoreceptor and bipolar cells. Investigative ophthalmology and visual science 42 (3), pp. 816-825.

Mah, N., Stöhr, H., Schulz, H. L., White, K. and 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), pp. 167-174. Fulltext not available.

Scholl, H. P. N., Kremers, J., Vonthein, R., White, K. and Weber, Bernhard H. F. (2001) L- and M-Cone–Driven Electroretinograms in Stargardt’s Macular Dystrophy–Fundus Flavimaculatus. Investigative ophthalmology and visual science 42, pp. 1380-1389.

2000

Krämer, F., White, K., Kubbies, M., Swisshelm, K. and Weber, Bernhard H. F. (2000) Genomic organization of claudin-1 and its assessment in hereditary and sporadic breast cancer. Human Genetics 107 (3), pp. 249-256. Fulltext not available.

Rivera, A., White, K., Stöhr, H., Steiner, K., Hemmrich, N., Grimm, T., Jurklies, B., Lorenz, B., Scholl, H. P. N., Apfelstedt-Sylla, E. and Weber, Bernhard H. F. (2000) A Comprehensive Survey of Sequence Variation in the ABCA4 (ABCR) Gene in Stargardt Disease and Age-Related Macular Degeneration. The American Journal of Human Genetics 67 (4), pp. 800-813. Fulltext not available.

Stöhr, H., Mah, N., Schulz, H. L., Gehrig, A., Fröhlich, S. and Weber, Bernhard H. F. (2000) EST mining of the UniGene dataset to identify retina-specific genes. Cytogenetics and cell genetics 91, pp. 267-277. Fulltext not available.

Allikmets, Rando, International ABCR Screening Consortium, . and 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), pp. 487-491. Fulltext not available.

Krämer, F., White, K., Pauleikhoff, D., Gehrig, A., Passmore, L., Rivera, A., Rudolph, G., Kellner, U., Andrassi, M., Lorenz, B., Rohrschneider, K., Blankenagel, A., Jurklies, B., Schilling, H., Schütt, F., Holz, F. G. and Weber, Bernhard H. F. (2000) Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration. European Journal of Human Genetics 8 (4), pp. 286-292. Fulltext not available.

Hofferbert, S., Worringen, U., Backe, J., Rückert, E.-M., White, K., Faller, H., Grimm, T., Caffier, H., Chang-Claude, J. and 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, pp. 127-146. Fulltext not available.

White, K., Marquardt, A. and Weber, Bernhard H. F. (2000) VMD2 mutations in vitelliform macular dystrophy (Best disease) and other maculopathies. Human Mutation 15 (4), pp. 301-308. Fulltext not available.

Marquardt, A., Stöhr, H., White, K. and 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), pp. 175-183. Fulltext not available.

Stöhr, H., Marquardt, A., White, K. and 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, pp. 211-216. Fulltext not available.

1999

Passmore, L., Kaesmann-Kellner, B. and 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), pp. 200-210. Fulltext not available.

Stöhr, H., Klein, J., Gehrig, A., Koehler, M. R., Jurklies, B., Kellner, U., Leo-Kottler, B., Schmid, M. and 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), pp. 99-105. Fulltext not available.

Gehrig, A. E., White, K., Lorenz, B., Adrassi, M., Clemens, S. and Weber, Bernhard H. F. (1999) Assessment of RS1 in X-linked juvenile retinoschisis and sporadic senile retinoschisis. Clinical Genetics 55 (6), pp. 461-465. Fulltext not available.

Breast Cancer Linkage Consortium, . (1999) Cancer risks in BRCA2 mutation carriers. Journal of the National Cancer Institute 91 (15), pp. 1310-1316. Fulltext not available.

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. and Schindler, D. (1999) Characterization of ATM Gene Mutations in 66 Ataxia Telangiectasia Families. Human Molecular Genetics 8 (1), pp. 69-79. Fulltext not available.

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. and Riess, O. (1999) DNA analysis of Huntington's disease: five year experience in Germany, Austria and Switzerland (1993-1997). Neurology 53 (4), pp. 801-806. Fulltext not available.

Gehrig, A., Lorenz, B., Andrassi, M. and 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), pp. 933-934. Fulltext not available.

Backe, J., Hofferbert, S., Skawran, B., Dörk, T., Stuhrmann, M., Karstens, J. H., Untch, M., Meindl, A., Burgemeister, R., Chang-Claude, J. and Weber, Bernhard H. F. (1999) Frequency of BRCA1 mutation 5382insC in german breast cancer patients. Gynecologic Oncology 72 (3), pp. 402-406. Fulltext not available.

Gehrig, A. E., Warneke-Wittstock, R., Sauer, C. G. and Weber, Bernhard H. F. (1999) Isolation and characterization of the murine X-linked juvenile retinoschisis (Rs1h) gene. Mammalian Genome 10 (3), pp. 303-307. Fulltext not available.

Chang-Claude, J., Becher, H., Caligo, M., Eccles, D., Evans, G., Haites, N., Hodgson, S., Moller, P., Weber, Bernhard H. F. and 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), pp. 53-65. Fulltext not available.

Zack, D. J., Dean, M., Molday, R. S., Nathans, J., Redmont, T. M., Stone, E. M., Swaroop, A., Valle, D. and Weber, Bernhard H. F. (1999) What can we learn about age-related macular degeneration from other retinal diseases? Molecular vision 5, p. 30.

1998

Nasonkin, I., Illing, M., Koehler, M. R., Schmid, M., Molday, R. S. and 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), pp. 21-26. Fulltext not available.

Stöhr, H., Marquardt, A., Rivera, A., Cooper, P. R., Nowak, N. J., Shows, T. B., Gerhard, D. S. and 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), pp. 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. and Meindl, A. (1998) An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness. Nature Genetics 19, pp. 260-263. Fulltext not available.

Gehrig, A., Felbor, U., Kelsell, R. E., Hunt, D. M., Maumenee, I. H. and 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), pp. 641-645. Fulltext not available.

Becker, M., Rohrschneider, K., Tilgen, W., Weber, Bernhard H. F. and Völcker, H. E. (1998) Familiäre juvenile Makuladystrophie mit kongenitaler Hypotrichosis capitis -- Familial juvenile macular dystrophy with congenital hypotrichosis capitis. Der Ophthalmologe 95 (4), pp. 233-240. Fulltext not available.

Felbor, U., Gehrig, A., Sauer, C. G., Marquardt, A., Köhler, M., Schmid, M. and 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, pp. 12-17. Fulltext not available.

Porsch, M., Hofmeyer, K., Bausenwein, B., Grimm, S., Weber, Bernhard H. F. , Miassod, R. and Pflugfelder, G. O. (1998) Isolation of a Drosophila T-box gene closely related to human TBX1. Gene 212 (2), pp. 237-248. Fulltext not available.

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. and 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), pp. 274-279. Fulltext not available.

Koehler, M. R., Sauer, C. G., Reismann, N., Steinlein, C., Weber, Bernhard H. F. , Will, H. and 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), pp. 199-203. Fulltext not available.

Marquardt, A., Stöhr, H., Passmore, L. A., Kramer, F., Rivera, A. and 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), pp. 1517-1525. Fulltext not available.

Schworm, H. D., Ulbig, M. W., Hoops, J., Rudolph, G., Weber, Bernhard H. F. , Ehrt, O. and 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), pp. 13-18. Fulltext not available.

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), pp. 65-74. Fulltext not available.

Stöhr, H., Marquardt, A., Rivera, A., Kellner, U. and 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), pp. 400-405. Fulltext not available.

Hofferbert, S., Brohm, M. and Weber, Bernhard H. F. (1998) Search for TSG101 germline mutations in BRCA1/BRCA2-negative breast/ovarian cancer families. Cancer Genetics and Cytogenetics 102 (1), pp. 86-87. Fulltext not available.

Felbor, U. and Weber, Bernhard H. F. (1998) Sorsby's fundus dystrophy: Eine genetisch homogene Erkrankung - a genetically homogeneous condition. Der Ophthalmologe 95 (5), pp. 287-290. Fulltext not available.

Roesch, M. T., Ewing, C. C., Gibson, A. E. and Weber, Bernhard H. F. (1998) The natural history of X-linked retinoschisis. Canadian journal of ophthalmology 33, pp. 149-158. Fulltext not available.

Warneke-Wittstock, R., Marquardt, A., Gehrig, A., Sauer, C. G., Gessler, M. and 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), pp. 59-67. Fulltext not available.

1997

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. and Shows, T. B. (1997) A Sequence-Ready High-Resolution Physical Map of the Best Macular Dystrophy Gene Region in 11q12–q13. Genomics 41 (2), pp. 185-192. Fulltext not available.

Felbor, U., Schilling, H. and Weber, Bernhard H. F. (1997) Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS gene. Human Mutation 10 (4), pp. 301-309. Fulltext not available.

Sauer, C. G., Schworm, H. D., Ulbig, M., Blankenagel, A., Rohrschneider, K., Pauleikhoff, D., Grimm, T. and 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), pp. 961-966. Fulltext not available.

Felbor, U., Suvanto, E. A., Forsius, H. R., Eriksson, A. W. and Weber, Bernhard H. F. (1997) Autosomal recessive Sorsby fundus dystrophy revisited: molecular evidence for dominant inheritance. The American Journal of Human Genetics 60 (1), pp. 57-62. Fulltext not available.

Pauleikhoff, D., Sauer, C. G., Müller, C. R., Radermacher, M., Merz, A. and 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), pp. 412-415. Fulltext not available.

Felbor, U., Doepner, D., Schneider, U., Zrenner, E. and 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), pp. 1054-1059.

Sauer, G. S., Gehrig, A., Warneke-Wittstock, R., Marquardt, A., Ewing, C. C., Gibson, A., Lorenz, B., Jurklies, B. and Weber, Bernhard H. F. (1997) Positional cloning of the gene associated with X-linked juvenile retinoschisis. Nature Genetics 17, pp. 164-170. Fulltext not available.

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. and et, al. (1997) SCA2 trinucleotide expansion in German SCA patients. Neurogenetics 1 (1), pp. 59-64. Fulltext not available.

Felbor, U., Benkwitz, C., Klein, M. L., Greenberg, J., Gregory, C. Y. and 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), pp. 1569-1571. Fulltext not available.

1996

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. and 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), pp. 3149-3154.

Felbor, U., Stöhr, H., Amann, T., Schönherr, U., Apfelstedt-Sylla, E. and 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), pp. 233-236. Fulltext not available.

Weber, Bernhard H. F. , Brohm, M., Stec, I., Backe, J. and Caffier, H. (1996) A somatic truncating mutation in BRCA2 in a sporadic breast tumor. The American Journal of Human Genetics 59 (4), pp. 962-964. Fulltext not available.

Weber, Bernhard H. F. , Sander, S., Kopp, C., Walker, D., Eckstein, A., Wissinger, B., Zrenner, E. and 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), pp. 745-749. Fulltext not available.

Weber, Bernhard H. F. and et, al. (1996) Report of the Fifth International Workshop on Human Chromosome 11 Mapping 1996 - Part 1,2,3. Cytogenetics and cell genetics 74, pp. 1-56. Fulltext not available.

Guerette, P. A., Ginzinger, D. G., Weber, Bernhard H. F. and Gosline, J. M. (1996) Silk properties determined by gland-specific expression of a spider fibroin gene family. Science 272 (5258), pp. 112-115. Fulltext not available.

Wijesuriya, S. D., Evans, K., Jay, M. R., Davison, C., Weber, Bernhard H. F. , Bird, A. C., Bhattacharya, S. S. and 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, pp. 92-101.

1995

Stöhr, H. and Weber, Bernhard H. F. (1995) A recombination event excludes the ROM1 locus from the Best's vitelliform macular dystrophy region. Human Genetics 95 (2), pp. 219-222. Fulltext not available.

Felbor, U., Stöhr, H., Amann, T., Schönherr, U. and 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), pp. 2415-2416. Fulltext not available.

Stöhr, H., Roomp, K., Felbor, U. and Weber, Bernhard H. F. (1995) Genomic organization of the human tissue inhibitor of metalloproteinases-3 (TIMP3). Genome research 5 (5), pp. 483-487.

Weber, Bernhard H. F. , Janocha, S., Vogt, G., Sander, S., Gibson, A., Roesch, M. and Ewing, C. C. (1995) X-linked juvenile retinoschisis (RS) maps between DXS987 and DXS443. Cytogenetics and cell genetics 69, pp. 35-37. Fulltext not available.

1994

Stöhr, H. and Weber, Bernhard H. F. (1994) (ATTT)n-Tetranucleotide repeat polymorphism in the 5'-flanking region of the UGB gene. Human Molecular Genetics 3 (11), p. 2086. Fulltext not available.

Weber, Bernhard H. F. , Stöhr, H. and Walker, D. (1994) A Case of Nonpenetrance in Best's Disease. American Journal of Ophthalmology 118 (3), pp. 398-399. Fulltext not available.

Weber, Bernhard H. F. , Walker, D., Müller, B. and Mar, L. (1994) Best's Vitelliform Dystrophy (VMD2) Maps between D11S903 and PYGM: No Evidence for Locus Heterogeneity. Genomics 20 (2), pp. 267-274. Fulltext not available.

Weber, Bernhard H. F. , Stöhr, H., Siedlaczck, I., Longmire, J. L., Deaven, L. L., Duncan, A. M. V. and Riess, O. (1994) Characterization of a cosmid library from flow-sorted chromosomes 11. Chromosome Research 2 (3), pp. 201-207. Fulltext not available.

Weber, Bernhard H. F. , Vogt, G., Stöhr, H., Sander, S., Walker, D. and 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), pp. 1182-1187. Fulltext not available.

Weber, Bernhard H. F. , Walker, D. and Müller, B. (1994) Molecular evidence for non-penetrance in Best's disease. Journal of Medical Genetics 31 (5), pp. 388-392. Fulltext not available.

Weber, Bernhard H. F. , Vogt, G., Pruett, R. C., Stöhr, H. and Felbor, U. (1994) Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy. Nature Genetics 8, pp. 352-356. Fulltext not available.

Weber, Bernhard H. F. , Vogt, G., Wolz, W., Ives, E. J. and Ewing, C. C. (1994) Sorsby's fundus dystrophy is genetically linked to chromosome 22q13−qter. Nature Genetics 7, pp. 158-161. Fulltext not available.

Mitchell, J. J., Vekemans, M., Luscombe, S., Hayden, M., Weber, Bernhard H. F. , Richter, A., Sparkes, R., Kojis, T., Watters, G. and 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), pp. 384-387. Fulltext not available.

1993

Weber, Bernhard H. F. , Riess, O., Daneshvar, H., Graham, R. and Hayden, M. R. (1993) (CA)n-dinucleotide repeat at the PDEB locus in 4p16.3. Human Molecular Genetics 2 (6), p. 827. Fulltext not available.

1992

Riess, O., Weber, Bernhard H. F. and 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), p. 452. Fulltext not available.

Weber, Bernhard H. F. , Riess, O., Wolff, G., Andrew, S., Collins, C., Graham, R., Theilmann, J. and 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, pp. 216-222. Fulltext not available.

Riess, O., Noerremoelle, A., Collins, C., Mah, D., Weber, Bernhard H. F. and 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, pp. 104-108. Fulltext not available.

Weber, Bernhard H. F. , Hedrick, A., Andrew, S., Riess, O., Collins, C., Kowbel, D. and 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), pp. 382-393. Fulltext not available.

Riess, O., Weber, Bernhard H. F. , Noerremoelle, A., Shaikh, R. A., Hayden, M. R. and Musarella, M. A. (1992) Linkage studies and mutation analysis of the PDEB gene in 23 families with leber congenital amaurosis. Human Mutation 1 (6), pp. 478-485. Fulltext not available.

Andrew, S., Theilmann, J., Hedrick, A., Mah, D., Weber, Bernhard H. F. and Hayden, M. R. (1992) Nonrandom association between huntington disease and two loci separated by about 3 Mb on 4p16.3. Genomics 13 (2), pp. 301-311. Fulltext not available.

Collins, C., Hutchinson, G., Kowbel, D., Riess, O., Weber, Bernhard H. F. and 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), pp. 698-704. Fulltext not available.

Riess, O., Noerremoelle, A., Weber, Bernhard H. F. , Musarella, M. A. and 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), pp. 755-762. Fulltext not available.

1991

Weber, Bernhard H. F. , Allen, L., Magenis, R. E. and Hayden, M. R. (1991) A low copy repeat located in subtelomeric regions of 14 different human chromosomal termini. Cytogenetics and cell genetics 57 (4), pp. 179-183. Fulltext not available.

Weber, Bernhard H. F. , Riess, O. and Hayden, M. R. (1991) A polymorphic DNA marker at the D10S106 locus. Nucleic Acids Research 19 (7), p. 1725.

Weber, Bernhard H. F. , Riess, O., Kreklywich, C. N., Wood, S. and Hayden, M. R. (1991) A polymorphic DNA marker at the D8S131 locus. Nucleic Acids Research 19 (7), p. 1725.

Weber, Bernhard H. F. , Riess, O., Hutchinson, G., Collins, C., Lin, B., Kowbel, D., Andrew, S., Schappert, K. and 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), pp. 6263-6268.

Weber, Bernhard H. F. , Collins, C., Kowbel, D., Riess, O. and 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), pp. 1113-1124. Fulltext not available.

Weber, Bernhard H. F. , Allen, L., Magenis, R. E., Goodfellow, P. J., Smith, L. and Hayden, M. R. (1991) Intrachromosomal location of the telomeric repeat (TTAGGG)n. Mammalian Genome 1 (4), pp. 211-216. Fulltext not available.

Adam, S., Theilmann, J., Buetow, K., Hedrick, A., Collins, C., Weber, Bernhard H. F. , Huggins, M. and Hayden, M. (1991) Linkage disequilibrium and modification of risk for Huntington disease. The American Journal of Human Genetics 48 (3), pp. 595-603. Fulltext not available.

1990

Weber, Bernhard H. F. , Collins, C., Robbins, C., Magenis, R. E., Delaney, A. D., Gray, J. W. and Hayden, M. R. (1990) Characterization and organization of DNA sequences adjacent to the human telomere associated repeat (TTAGGG)n. Nucleic Acids Research 18 (11), pp. 3353-3361.

1989

Schempp, W., Weber, Bernhard H. F. and 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), pp. 201-205. Fulltext not available.

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. and 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), pp. 676-681. Fulltext not available.

1988

Weber, Bernhard H. F. , Weissenbach, J. and Schempp, W. (1988) X-Y crossing over in the chimpanzee. Human Genetics 80 (3), pp. 301-303. Fulltext not available.

Zimmermann, W., Weber, Bernhard H. F. , Ortlieb, B., Rudert, F., Schempp, W., Fiebig, H.-H., Shively, J. E., von Kleist, S. and Thompson, J. A. (1988) Chromosomal Localization of the Carcinoembryonic Antigen Gene Family and Differential Expression in Various Tumors. Cancer Research 48 (9), pp. 2550-2554. Fulltext not available.

Weber, Bernhard H. F. , Walz, L., Schmid, M. and Schempp, W. (1988) Homoeologic aberrations in human and chimpanzee Y chromosomes: inverted and satellited Y chromosomes. Cytogenetics and cell genetics 47, pp. 26-28. Fulltext not available.

1987

Weber, Bernhard H. F. , Schempp, W., Orth, U., Seidel, H. and Gal, A. (1987) A Y/5 translocation in a 45,X male with cri du chat syndrome. Human Genetics 77 (2), pp. 145-150. Fulltext not available.

Gal, A., Weber, Bernhard H. F. , Neri, G., Serra, A., Müller, U., Schempp, W. and Page, D. C. (1987) A 45,X male with Y-specific DNA translocated onto chromosome 15. The American Journal of Human Genetics 40 (6), pp. 477-488. Fulltext not available.

Weber, Bernhard H. F. , Weissenbach, J. and Schempp, W. (1987) Conservation of human-derived pseudoautosomal sequences on the sex chromosomes of the great apes. Cytogenetics and cell genetics 45 (1), pp. 26-29. Fulltext not available.

1986

Maserati, E., Waibel, F., Weber, Bernhard H. F. , Fraccaro, M., Gal, A., Pasquali, F., Schempp, W., Scherer, G., Vaccaro, R., Weissenbach, J. and Wolf, U. (1986) A 45,X male with a Yp/18 translocation. Human Genetics 74 (2), pp. 126-132. Fulltext not available.

Weber, Bernhard H. F. , Schempp, W and Wiesner, H (1986) An evolutionarily conserved early replicating segment on the sex chromosomes of man and the great apes. Cytogenetics and cell genetics 43, pp. 72-78. Fulltext not available.

1985

Schempp, W., Weber, Bernhard H. F. , Serra, A., Neri, G., Gal, A. and Wolf, U. (1985) A 45,X male with evidence of a translocation of Y euchromatin onto chromosome15. Human Genetics 71 (2), pp. 150-154. Fulltext not available.

This list was generated on Sat Oct 12 23:20:01 2024 CEST.
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