Einträge von Hehr, Ute auf dem Publikationsserver

Kurz, Bernadett, Koschitzki, Kevin-Thomas, Hehr, Ute, Germer, Ute, Schreml, Julia, Langhammer, Florian und Schreml, Stephan (2023) Congenital ichthyosiform erythroderma with epidermolysis due to a novel frameshift mutation in KRT10. JAAD Case Reports 35, S. 74-76.

Krach, Florian , Stemick, Judith, Boerstler, Tom , Weiss, Alexander, Lingos, Ioannis, Reischl, Stephanie, Meixner, Holger, Ploetz, Sonja, Farrell, Michaela, Hehr, Ute, Kohl, Zacharias, Winner, Beate und Winkler, Juergen (2022) An alternative splicing modulator decreases mutant HTT and improves the molecular fingerprint in Huntington’s disease patient neurons. Nature Communications 13 (1). Volltext nicht vorhanden.

Degenhardt, Frauke, Ellinghaus, David, Juzenas, Simonas, Lerga-Jaso, Jon, Wendorff, Mareike, Maya-Miles, Douglas, Uellendahl-Werth, Florian, ElAbd, Hesham , Rühlemann, Malte C., Arora, Jatin, Özer, Onur, Lenning, Ole Bernt, Myhre, Ronny, Vadla, May Sissel, Wacker, Eike M., Wienbrandt, Lars , Blandino Ortiz, Aaron, de Salazar, Adolfo, Garrido Chercoles, Adolfo, Palom, Adriana, Ruiz, Agustín, Garcia-Fernandez, Alba-Estela , Blanco-Grau, Albert, Mantovani, Alberto, Zanella, Alberto, Holten, Aleksander Rygh, Mayer, Alena, Bandera, Alessandra, Cherubini, Alessandro, Protti, Alessandro, Aghemo, Alessio, Gerussi, Alessio, Ramirez, Alfredo , Braun, Alice , Nebel, Almut, Barreira, Ana, Lleo, Ana, Teles, Ana, Kildal, Anders Benjamin , Biondi, Andrea, Caballero-Garralda, Andrea, Ganna, Andrea , Gori, Andrea, Glück, Andreas, Lind, Andreas , Tanck, Anja, Hinney, Anke, Carreras Nolla, Anna, Fracanzani, Anna Ludovica, Peschuck, Anna, Cavallero, Annalisa, Dyrhol-Riise, Anne Ma, Ruello, Antonella, Julià, Antonio, Muscatello, Antonio, Pesenti, Antonio, Voza, Antonio, Rando-Segura, Ariadna, Solier, Aurora, Schmidt, Axel, Cortes, Beatriz, Mateos, Beatriz, Nafria-Jimenez, Beatriz, Schaefer, Benedikt, Jensen, Björn , Bellinghausen, Carla, Maj, Carlo, Ferrando, Carlos, de la Horra, Carmen, Quereda, Carmen, Skurk, Carsten, Thibeault, Charlotte , Scollo, Chiara, Herr, Christian, Spinner, Christoph D. , Gassner, Christoph, Lange, Christoph, Hu, Cinzia, Paccapelo, Cinzia, Lehmann, Clara, Angelini, Claudio, Cappadona, Claudio, Azuure, Clinton, Bianco, Cristiana, Cea, Cristina, Sancho, Cristina, Hoff, Dag Arne Lihaug, Galimberti, Daniela , Prati, Daniele, Haschka, David, Jiménez, David, Pestaña, David, Toapanta, David, Muñiz-Diaz, Eduardo, Azzolini, Elena, Sandoval, Elena, Binatti, Eleonora , Scarpini, Elio, Helbig, Elisa T., Casalone, Elisabetta , Urrechaga, Eloisa, Paraboschi, Elvezia Maria , Pontali, Emanuele, Reverter, Enric, Calderón, Enrique J., Navas, Enrique, Solligård, Erik, Contro, Ernesto, Arana-Arri, Eunate, Aziz, Fátima, Garcia, Federico, García Sánchez, Félix, Ceriotti, Ferruccio, Martinelli-Boneschi, Filippo, Peyvandi, Flora, Kurth, Florian, Blasi, Francesco, Malvestiti, Francesco , Medrano, Francisco J., Mesonero, Francisco, Rodriguez-Frias, Francisco, Hanses, Frank, Müller, Fredrik, Hemmrich-Stanisak, Georg, Bellani, Giacomo, Grasselli, Giacomo, Pezzoli, Gianni, Costantino, Giorgio, Albano, Giovanni, Cardamone, Giulia, Bellelli, Giuseppe, Citerio, Giuseppe , Foti, Giuseppe, Lamorte, Giuseppe, Matullo, Giuseppe, Baselli, Guido , Kurihara, Hayato, Neb, Holger, My, Ilaria, Kurth, Ingo, Hernández, Isabel, Pink, Isabell, de Rojas, Itziar, Galván-Femenia, Iván, Holter, Jan Cato, Afset, Jan Egil, Heyckendorf, Jan, Kässens, Jan, Damås, Jan Kristian, Rybniker, Jan, Altmüller, Janine, Ampuero, Javier, Martín, Javier, Erdmann, Jeanette, Banales, Jesus M., Badia, Joan Ramon, Dopazo, Joaquin, Schneider, Jochen, Bergan, Jonas , Barretina, Jordi, Walter, Jörn, Hernández Quero, Jose, Goikoetxea, Josune, Delgado, Juan, Guerrero, Juan M., Fazaal, Julia, Kraft, Julia , Schröder, Julia, Risnes, Kari , Banasik, Karina , Müller, Karl Erik, Gaede, Karoline I., Garcia-Etxebarria, Koldo, Tonby, Kristian, Heggelund, Lars, Izquierdo-Sanchez, Laura, Bettini, Laura Rachele, Sumoy, Lauro , Sander, Leif Erik, Lippert, Lena J., Terranova, Leonardo, Nkambule, Lindokuhle, Knopp, Lisa, Gustad, Lise Tuset , Garbarino, Lucia, Santoro, Luigi, Téllez, Luis, Roade, Luisa, Ostadreza, Mahnoosh, Intxausti, Maider, Kogevinas, Manolis, Riveiro-Barciela, Mar, Berger, Marc M. , Schaefer, Marco, Niemi, Mari E. K., Gutiérrez-Stampa, María A., Carrabba, Maria, Figuera Basso, Maria E., Valsecchi, Maria Grazia, Hernandez-Tejero, María, Vehreschild, Maria J. G. T., Manunta, Maria , Acosta-Herrera, Marialbert , D'Angiò, Mariella, Baldini, Marina, Cazzaniga, Marina, Grimsrud, Marit M., Cornberg, Markus, Nöthen, Markus M., Marquié, Marta, Castoldi, Massimo, Cordioli, Mattia , Cecconi, Maurizio, D'Amato, Mauro, Augustin, Max, Tomasi, Melissa, Boada, Mercè, Dreher, Michael, Seilmaier, Michael J., Joannidis, Michael, Wittig, Michael, Mazzocco, Michela, Ciccarelli, Michele, Rodríguez-Gandía, Miguel, Bocciolone, Monica, Miozzo, Monica, Imaz Ayo, Natale, Blay, Natalia , Chueca, Natalia, Montano, Nicola, Braun, Nicole , Ludwig, Nicole , Marx, Nikolaus, Martínez, Nilda, Cornely, Oliver A. , Witzke, Oliver, Palmieri, Orazio, Faverio, Paola, Preatoni, Paoletta, Bonfanti, Paolo, Omodei, Paolo, Tentorio, Paolo, Castro, Pedro, Rodrigues, Pedro M., España, Pedro Pablo, Hoffmann, Per, Rosenstiel, Philip, Schommers, Philipp, Suwalski, Phillip, de Pablo, Raúl, Ferrer, Ricard, Bals, Robert , Gualtierotti, Roberta, Gallego-Durán, Rocío, Nieto, Rosa, Carpani, Rossana, Morilla, Rubén, Badalamenti, Salvatore, Haider, Sammra, Ciesek, Sandra, May, Sandra, Bombace, Sara, Marsal, Sara, Pigazzini, Sara, Klein, Sebastian, Pelusi, Serena, Wilfling, Sibylle, Bosari, Silvano, Volland, Sonja , Brunak, Søren, Raychaudhuri, Soumya, Schreiber, Stefan, Heilmann-Heimbach, Stefanie, Aliberti, Stefano, Ripke, Stephan, Dudman, Susanne , Wesse, Tanja, Zheng, Tenghao, Bahmer, Thomas, Eggermann, Thomas, Illig, Thomas, Brenner, Thorsten, Pumarola, Tomas, Feldt, Torsten, Folseraas, Trine, Gonzalez Cejudo, Trinidad, Landmesser, Ulf, Protzer, Ulrike, Hehr, Ute, Rimoldi, Valeria, Monzani, Valter, Skogen, Vegard, Keitel, Verena, Kopfnagel, Verena, Friaza, Vicente , Andrade, Victor, Moreno, Victor, Albrecht, Wolfgang, Peter, Wolfgang, Poller, Wolfgang, Farre, Xavier, Yi, Xiaoli, Wang, Xiaomin, Khodamoradi, Yascha , Karadeniz, Zehra, Latiano, Anna, Goerg, Siegfried, Bacher, Petra, Koehler, Philipp, Tran, Florian, Zoller, Heinz, Schulte, Eva C. , Heidecker, Bettina, Ludwig, Kerstin U. , Fernández, Javier, Romero-Gómez, Manuel, Albillos, Agustín, Invernizzi, Pietro, Buti, Maria, Duga, Stefano, Bujanda, Luis, Hov, Johannes R., Lenz, Tobias L., Asselta, Rosanna, de Cid, Rafael, Valenti, Luca , Karlsen, Tom H., Cáceres, Mario und Franke, Andre (2022) Detailed stratified GWAS analysis for severe COVID-19 in four European populations. Human Molecular Genetics 31 (23), S. 3945-3966. Volltext nicht vorhanden.

Kaindl, Angela M., Hennermann, Julia B., Niller, Hans H., Hehr, Ute, von Bernuth, Horst, Chaoui, Rabih, Landwehr-Kenzel, Sybille, Hahn, Gabriele, Mundlos, Christine, Thomale, Ulrich-Wilhelm, Rosenbaum, Thorsten, Moog, Ute, Horn, Denise und von der Hagen, Maja (2022) Handlungsempfehlungen nach der Leitlinie Klassifikation und Diagnostik der Mikrozephalie. Monatsschrift Kinderheilkunde 170 (10), S. 929-933. Volltext nicht vorhanden.

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

Lubnow, Matthias , Schmidt, Barbara, Fleck, Martin, Salzberger, Bernd, Müller, Thomas, Peschel, Georg, Schneckenpointner, Roland, Lange, Tobias, Hitzenbichler, Florian , Kieninger, Martin, Lunz, Dirk, Graf, Bernhard, Brochhausen, Christoph, Weber, Florian, Lüke, Florian, Peterhoff, David, Schuster, Philipp, Hiergeist, Andreas, Offner, Robert, Hehr, Ute, Wallner, Stefan, Hanses, Frank , Schmid, Stephan, Weigand, Kilian, Geismann, Florian , Poeck, Hendrik, Pukrop, Tobias, Evert, Matthias, Gessner, Andre, Burkhardt, Ralph , Herr, Wolfgang, Maier, Lars S. und Heudobler, Daniel (2021) Secondary hemophagocytic lymphohistiocytosis and severe liver injury induced by hepatic SARS-CoV-2 infection unmasking Wilson’s disease: Balancing immunosuppression. International Journal of Infectious Diseases 103 (2021), S. 624-627.

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

Brock, Stefanie , Vanderhasselt, Tim , Vermaning, Sietske, Keymolen, Kathelijn , Régal, Luc , Romaniello, Romina , Wieczorek, Dagmar , Storm, Tim Matthias, Schaeferhoff, Karin, Hehr, Ute, Kuechler, Alma, Krägeloh-Mann, Ingeborg, Haack, Tobias B., Kasteleijn, Esmee, Schot, Rachel, Mancini, Grazia Maria Simonetta, Webster, Richard, Mohammad, Shekeeb , Leventer, Richard J., Mirzaa, Ghayda, Dobyns, William B. , Bahi-Buisson, Nadia, Meuwissen, Marije, Jansen, Anna C. und Stouffs, Katrien (2020) Defining the phenotypical spectrum associated with variants in TUBB2A. Journal of Medical Genetics 58 (1), S. 33-40. Volltext nicht vorhanden.

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

Oegema, Renske , Barakat, Tahsin Stefan , Wilke, Martina, Stouffs, Katrien , Amrom, Dina, Aronica, Eleonora, Bahi-Buisson, Nadia, Conti, Valerio , Fry, Andrew E. , Geis, Tobias, Andres, David Gomez, Parrini, Elena, Pogledic, Ivana , Said, Edith, Soler, Doriette, Valor, Luis M., Zaki, Maha S. , Mirzaa, Ghayda, Dobyns, William B., Reiner, Orly, Guerrini, Renzo , Pilz, Daniela T., Hehr, Ute, Leventer, Richard J., Jansen, Anna C. , Mancini, Grazia M. S. und Di Donato, Nataliya (2020) International consensus recommendations on the diagnostic work-up for malformations of cortical development. Nature Reviews Neurology 16 (11), S. 618-635. Volltext nicht vorhanden.

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

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

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

Hebebrand, Moritz, Hüffmeier, Ulrike, Trollmann, Regina, Hehr, Ute, Uebe, Steffen, Ekici, Arif B. , Kraus, Cornelia, Krumbiegel, Mandy, Reis, André , Thiel, Christian T. und Popp, Bernt (2019) The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy. Orphanet Journal of Rare Diseases 14 (1). Volltext nicht vorhanden.

Elbracht, Miriam, Kraft, Florian, Begemann, Matthias, Holschbach, Petra, Mull, Michael, Kabat, Ildiko M., Müller, Britta, Häusler, Martin, Kurth, Ingo und Hehr, Ute (2018) Familial NEDD4L variant in periventricular nodular heterotopia and in a fetus with hypokinesia and flexion contractures. Molecular Genetics & Genomic Medicine 6 (6), S. 1255-1260. Volltext nicht vorhanden.

Dittrich, Ralf, Kliesch, Sabine, Schüring, Andreas, Balcerek, Magdalena, Baston-Büst, Dunja, Beck, Ramona, Beckmann, Matthias, Behringer, Karolin, Borgmann-Staudt, Anja, Cremer, Wolfgang, Denzer, Christian, Diemer, Thorsten, Dorn, Almut, Fehm, Tanja, Gaase, Rüdiger, Germeyer, Ariane, Geue, Kristina, Ghadjar, Pirus, Goeckenjan, Maren, Götte, Martin, Guth, Dagmar, Hauffa, Berthold, Hehr, Ute, Hetzer, Franc, Hirchenhain, Jens, Hoffmann, Wilfried, Hornemann, Beate, Jantke, Andreas, Kentenich, Heribert, Kiesel, Ludwig, Köhn, Frank-Michael, Korell, Matthias, Lax, Sigurd, Liebenthron, Jana, Lux, Michael, Meißner, Julia, Micke, Oliver, Nassar, Najib , Nawroth, Frank, Nordhoff, Verena , Ochsendorf, Falk, Oppelt, Patricia, Pelz, Jörg, Rau, Beate, Reisch, Nicole, Riesenbeck, Dorothea, Schlatt, Stefan, Sender, Annekathrin, Schwab, Roxana, Siedentopf, Friederike, Thorn, Petra, Wagner, Steffen, Wildt, Ludwig, Wimberger, Pauline, Wischmann, Tewes, von Wolff, Michael und Lotz, Laura (2018) Fertility Preservation for Patients with Malignant Disease. Guideline of the DGGG, DGU and DGRM (S2k-Level, AWMF Registry No. 015/082, November 2017) – Recommendations and Statements for Girls and Women. Geburtshilfe und Frauenheilkunde 78 (06), S. 567-584. Volltext nicht vorhanden.

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

Kuechler, Alma, Czeschik, Johanna Christina, Graf, Elisabeth, Grasshoff, Ute, Hüffmeier, Ulrike, Busa, Tiffany, Beck-Woedl, Stefanie, Faivre, Laurence, Rivière, Jean-Baptiste, Bader, Ingrid, Koch, Johannes, Reis, André , Hehr, Ute, Rittinger, Olaf, Sperl, Wolfgang, Haack, Tobias B., Wieland, Thomas, Engels, Hartmut, Prokisch, Holger , Strom, Tim M., Lüdecke, Hermann-Josef und Wieczorek, Dagmar (2017) Bainbridge–Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition. European Journal of Human Genetics 25 (2), S. 183-191. Volltext nicht vorhanden.

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

Jahic, Amir, Hinreiner, Sophie, Emberger, Werner, Hehr, Ute, Zuchner, Stephan und Beetz, Christian (2017) Doublet-Mediated DNA Rearrangement-A Novel and Potentially Underestimated Mechanism for the Formation of Recurrent Pathogenic Deletions. Human Mutation 38 (3), S. 275-278. Volltext nicht vorhanden.

Romaniello, Romina, Arrigoni, Filippo, Panzeri, Elena, Poretti, Andrea, Micalizzi, Alessia , Citterio, Andrea , Bedeschi, Maria Francesca, Berardinelli, Angela, Cusmai, Raffaella, D’Arrigo, Stefano, Ferraris, Alessandro, Hackenberg, Annette, Kuechler, Alma, Mancardi, Margherita, Nuovo, Sara , Oehl-Jaschkowitz, Barbara, Rossi, Andrea , Signorini, Sabrina, Tüttelmann, Frank, Wahl, Dagmar, Hehr, Ute, Boltshauser, Eugen, Bassi, Maria Teresa, Valente, Enza Maria und Borgatti, Renato (2017) Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation. European Radiology 27 (12), S. 5080-5092. Volltext nicht vorhanden.

Rath, Matthias, Spiegler, Stefanie, Nath, Neetika, Schwefel, Konrad, Di Donato, Nataliya, Gerber, Johannes , Korenke, G. Christoph, Hellenbroich, Yorck, Hehr, Ute, Gross, Stephanie, Sure, Ulrich, Zoll, Barbara, Gilberg, Eberhard, Kaderali, Lars und Felbor, Ute (2016) Constitutional de novo and postzygotic mutations in isolated cases of cerebral cavernous malformations. Molecular Genetics & Genomic Medicine 5 (1), S. 21-27. Volltext nicht vorhanden.

Günther, Sven, Elert-Dobkowska, Ewelina, Soehn, Anne S., Hinreiner, Sophie, Yoon, Grace, Heller, Raoul, Hellenbroich, Yorck, Hübner, Christian A., Ray, Peter N., Hehr, Ute, Bauer, Peter, Sulek, Anna und Beetz, Christian (2016) High Frequency of Pathogenic Rearrangements in SPG11 and Extensive Contribution of Mutational Hotspots and Founder Alleles. Human Mutation 37 (7), S. 703-709. Volltext nicht vorhanden.

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

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

Herbst, Saskia M., Proepper, Christiane R., Geis, Tobias, Borggraefe, Ingo, Hahn, Andreas, Debus, Otfried, Haeussler, Martin, von Gersdorff, Gero, Kurlemann, Gerhard, Ensslen, Matthias, Beaud, Nathalie, Budde, Joerg, Gilbert, Michael, Heiming, Ralf, Morgner, Rita, Philippi, Heike, Ross, Sophia, Strobl-Wildemann, Gertrud, Muelleder, Kerstin, Vosschulte, Paul, Morris-Rosendahl, Deborah J. , Schuierer, Gerhard und Hehr, Ute (2016) LIS1-associated classic lissencephaly: A retrospective, multicenter survey of the epileptogenic phenotype and response to antiepileptic drugs. Brain and Development 38 (4), S. 399-406. Volltext nicht vorhanden.

Girisha, Katta Mohan, Bidchol, Abdul Mueed, Graul-Neumann, Luitgard, Gupta, Ashish, Hehr, Ute, Lessel, Davor , Nader, Sean, Shah, Hitesh, Wickert, Julia und Kutsche, Kerstin (2016) Phenotype and genotype in patients with Larsen syndrome: clinical homogeneity and allelic heterogeneity in seven patients. BMC Medical Genetics 17 (1). Volltext nicht vorhanden.

Hehr, Andreas, Paulmann, Bernd, Eichhammer, Lisa, Gassner, Claudia, Seifert, Bernd und Hehr, Ute (2016) Präimplantationsdiagnostik – methodische Aspekte. medizinische genetik 28 (3), S. 332-341. Volltext nicht vorhanden.

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

Sell, Katharina, Storch, Katja, Hahn, Gabriele, Lee-Kirsch, Min Ae, Ramantani, Georgia , Jackson, Sandra, Neilson, Derek, von der Hagen, Maja, Hehr, Ute und Smitka, Martin (2016) Variable clinical course in acute necrotizing encephalopathy and identification of a novel RANBP2 mutation. Brain and Development 38 (8), S. 777-780. Volltext nicht vorhanden.

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

Lange, Max, Kasper, Burkhard, Bohring, Axel, Rutsch, Frank, Kluger, Gerhard, Hoffjan, Sabine, Spranger, Stephanie, Behnecke, Anne, Ferbert, Andreas, Hahn, Andreas, Oehl-Jaschkowitz, Barbara, Graul-Neumann, Luitgard, Diepold, Katharina, Schreyer, Isolde, Bernhard, Matthias K., Mueller, Franziska, Siebers-Renelt, Ulrike, Beleza-Meireles, Ana, Uyanik, Goekhan, Janssens, Sandra, Boltshauser, Eugen, Winkler, Juergen, Schuierer, Gerhard und Hehr, Ute (2015) 47 patients with FLNA associated periventricular nodular heterotopia. Orphanet Journal of Rare Diseases 10 (1). Volltext nicht vorhanden.

Weaver, K. Nicole, Watt, Kristin E. Noack, Hufnagel, Robert B. , Navajas Acedo, Joaquin, Linscott, Luke L. , Sund, Kristen L., Bender, Patricia L., König, Rainer, Lourenco, Charles M., Hehr, Ute, Hopkin, Robert J., Lohmann, Dietmar R. , Trainor, Paul A. , Wieczorek, Dagmar und Saal, Howard M. (2015) Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction. The American Journal of Human Genetics 96 (5), S. 765-774. Volltext nicht vorhanden.

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

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

Wieczorek, Dagmar, Newman, William G. , Wieland, Thomas, Berulava, Tea, Kaffe, Maria, Falkenstein, Daniela, Beetz, Christian , Graf, Elisabeth, Schwarzmayr, Thomas, Douzgou, Sofia, Clayton-Smith, Jill, Daly, Sarah B., Williams, Simon G. , Bhaskar, Sanjeev S., Urquhart, Jill E. , Anderson, Beverley, O’Sullivan, James, Boute, Odile, Gundlach, Jasmin, Czeschik, Johanna Christina, van Essen, Anthonie J., Hazan, Filiz, Park, Sarah, Hing, Anne, Kuechler, Alma, Lohmann, Dietmar R. , Ludwig, Kerstin U., Mangold, Elisabeth, Steenpaß, Laura, Zeschnigk, Michael, Lemke, Johannes R., Lourenco, Charles Marques, Hehr, Ute, Prott, Eva-Christina, Waldenberger, Melanie, Böhmer, Anne C., Horsthemke, Bernhard, O’Keefe, Raymond T., Meitinger, Thomas , Burn, John, Lüdecke, Hermann-Josef und Strom, Tim M. (2014) Compound Heterozygosity of Low-Frequency Promoter Deletions and Rare Loss-of-Function Mutations in TXNL4A Causes Burn-McKeown Syndrome. The American Journal of Human Genetics 95 (6), S. 698-707. Volltext nicht vorhanden.

Brandl, Caroline , Zimmermann, Stephanie J., Milenkovic, Vladimir M., Rosendahl, S. M., Grassmann, Felix , Milenkovic, Andrea, Hehr, Ute, Federlin, Marianne, Wetzel, Christian H. , Helbig, Horst und Weber, Bernhard H. F. (2014) In-Depth Characterisation of Retinal Pigment Epithelium (RPE) Cells Derived from Human Induced Pluripotent Stem Cells (hiPSC). NeuroMolecular Medicine 16, S. 551-564.

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

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

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

Voigt, Claudia, Mégarbané, André, Neveling, Kornelia, Czeschik, Johanna Christina , Albrecht, Beate, Callewaert, Bert , von Deimling, Florian, Hehr, Andreas, Falkenberg Smeland, Marie, König, Rainer, Kuechler, Alma, Marcelis, Carlo, Puiu, Maria, Reardon, Willie, Riise Stensland, Hilde Monica Frostad, Schweiger, Bernd , Steehouwer, Marloes, Teller, Christopher, Martin, Marcel , Rahmann, Sven, Hehr, Ute, Brunner, Han G, Lüdecke, Hermann-Josef und Wieczorek, Dagmar (2013) Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations. Orphanet Journal of Rare Diseases 8 (1). Volltext nicht vorhanden.

Cushion, Thomas D. , Dobyns, William B. , Mullins, Jonathan G. L. , Stoodley, Neil, Chung, Seo-Kyung , Fry, Andrew E., Hehr, Ute, Gunny, Roxana, Aylsworth, Arthur S., Prabhakar, Prab, Uyanik, Gökhan, Rankin, Julia, Rees, Mark I. und Pilz, Daniela T. (2013) Overlapping cortical malformations and mutations in TUBB2B and TUBA1A. Brain 136 (2), S. 536-548. Volltext nicht vorhanden.

Kasper, Burkhard S., Kurzbuch, Katrin, Chang, Bernard S., Pauli, Elisabeth, Hamer, Hajo M., Winkler, Jürgen und Hehr, Ute (2013) Paternal inheritance of classic X‐linked bilateral periventricular nodular heterotopia. American Journal of Medical Genetics Part A 161 (6), S. 1323-1328. Volltext nicht vorhanden.

Dammann, Philipp, Hehr, Ute, Weidensee, Sabine, Zhu, Yuan, Gerlach, Rüdiger und Sure, Ulrich (2013) Two-hit mechanism in cerebral cavernous malformation? A case of monozygotic twins with a CCM1/KRIT1 germline mutation. Neurosurgical Review 36 (3), S. 483-486. Volltext nicht vorhanden.

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

Lines, Matthew A., Huang, Lijia, Schwartzentruber, Jeremy , Douglas, Stuart L., Lynch, Danielle C., Beaulieu, Chandree, Guion-Almeida, Maria Leine, Zechi-Ceide, Roseli Maria , Gener, Blanca, Gillessen-Kaesbach, Gabriele, Nava, Caroline, Baujat, Geneviève, Horn, Denise, Kini, Usha, Caliebe, Almuth, Alanay, Yasemin, Utine, Gulen Eda, Lev, Dorit, Kohlhase, Jürgen, Grix, Arthur W., Lohmann, Dietmar R. , Hehr, Ute, Böhm, Detlef, Majewski, Jacek, Bulman, Dennis E., Wieczorek, Dagmar und Boycott, Kym M. (2012) Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly. The American Journal of Human Genetics 90 (2), S. 369-377. Volltext nicht vorhanden.

Schlump, Jan-Ulrich, Stein, Anja, Hehr, Ute, Karen, Tanja, Möller-Hartmann, Claudia, Elcioglu, Nursel H., Bogdanova, Nadja, Woike, Hartmut Fritz, Lohmann, Dietmar R. , Felderhoff-Mueser, Ursula, Linz, Annette und Wieczorek, Dagmar (2012) Treacher Collins syndrome: clinical implications for the paediatrician—a new mutation in a severely affected newborn and comparison with three further patients with the same mutation, and review of the literature. European Journal of Pediatrics 171 (11), S. 1611-1618. Volltext nicht vorhanden.

Bernstein, Jonathan A., Bernstein, Daniel, Hehr, Ute und Hudgins, Louanne (2011) Familial cardiac valvulopathy due to filamin A mutation. American Journal of Medical Genetics Part A 155 (9), S. 2236-2241. Volltext nicht vorhanden.

Yis, Uluc, Uyanik, Gökhan, Heck, Pinar Bambul, Smitka, Martin, Nobel, Hannes, Ebinger, Friedrich, Dirik, Eray, Feng, Lucy, Kurul, Semra H., Brocke, Katja, Unalp, Aycan, Özer, Erdener, Cakmakci, Handan, Sewry, Caroline, Cirak, Sebahattin, Muntoni, Francesco, Hehr, Ute und Morris-Rosendahl, Deborah J. (2011) Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: Less severe mutations predominate in patients with a non-Walker-Warburg phenotype. Neuromuscular Disorders 21 (1), S. 20-30. Volltext nicht vorhanden.

Dauwerse, Johannes G, Dixon, Jill, Seland, Saskia, Ruivenkamp, Claudia A L, van Haeringen, Arie, Hoefsloot, Lies H, Peters, Dorien J M, Boers, Agnes Clement-de, Daumer-Haas, Cornelia, Maiwald, Robert, Zweier, Christiane , Kerr, Bronwyn, Cobo, Ana M, Toral, Joaquín F, Hoogeboom, A Jeannette M, Lohmann, Dietmar R , Hehr, Ute, Dixon, Michael J, Breuning, Martijn H und Wieczorek, Dagmar (2011) Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. Nature Genetics 43 (1), S. 20-22. Volltext nicht vorhanden.

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

Hehr, Ute, Pineda-Alvarez, Daniel E., Uyanik, Goekhan, Hu, Ping, Zhou, Nan, Hehr, Andreas, Schell-Apacik, Chayim, Altus, Carola, Daumer-Haas, Cornelia, Meiner, Annechristin, Steuernagel, Peter, Roessler, Erich, Winkler, Juergen und Muenke, Maximilian (2010) Heterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephaly. Human Genetics 127 (5), S. 555-561. Volltext nicht vorhanden.

Bauer, Peter, Winner, Beate , Schüle, Rebecca, Bauer, Claudia, Häfele, Veronika, Hehr, Ute, Bonin, Michael, Walter, Michael , Karle, Kathrin, Ringer, Thomas M., Rieß, Olaf, Winkler, Jürgen und Schöls, Ludger (2009) Identification of a heterozygous genomic deletion in the spatacsin gene in SPG11 patients using high-resolution comparative genomic hybridization. neurogenetics 10 (1), S. 43-48. Volltext nicht vorhanden.

Schell‐Apacik, Chayim Can, Ertl‐Wagner, Birgit, Panzel, Axel, Klausener, Kerstin, Rausch, Gisbert, Muenke, Maximilian , von Voss, Hubertus und Hehr, Ute (2009) Maternally inherited heterozygous sequence change in the sonic hedgehog gene in a male patient with bilateral closed‐lip schizencephaly and partial absence of the corpus callosum. American Journal of Medical Genetics Part A 149A (7), S. 1592-1594. Volltext nicht vorhanden.

Wieczorek, Dagmar, Gener, Blanca, González, Ma Jesús Martínez, Seland, Saskia, Fischer, Sven, Hehr, Ute, Kuechler, Alma, Hoefsloot, Lies H., de Leeuw, Nicole, Gillessen‐Kaesbach, Gabriele und Lohmann, Dietmar R. (2009) Microcephaly, microtia, preauricular tags, choanal atresia and developmental delay in three unrelated patients: A mandibulofacial dysostosis distinct from Treacher Collins syndrome. American Journal of Medical Genetics Part A 149A (5), S. 837-843. Volltext nicht vorhanden.

de Lima, Renata L. L. Ferreira, Hoper, Sarah A., Ghassibe, Michella, Cooper, Margaret E., Rorick, Nicholas K., Kondo, Shinji, Katz, Lori, Marazita, Mary L., Compton, John, Bale, Sherri, Hehr, Ute, Dixon, Michael J., Daack-Hirsch, Sandra , Boute, Odile, Bayet, Bénédicte, Revencu, Nicole, Verellen-Dumoulin, Christine, Vikkula, Miikka , Richieri-Costa, Antônio, Moretti-Ferreira, Danilo , Murray, Jeffrey C. und Schutte, Brian C. (2009) Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome. Genetics in Medicine 11 (4), S. 241-247. Volltext nicht vorhanden.

Roessler, Erich, El-Jaick, Kenia B. , Dubourg, Christèle, Vélez, Jorge I. , Solomon, Benjamin D., Pineda-Álvarez, Daniel E., Lacbawan, Felicitas, Zhou, Nan, Ouspenskaia, Maia, Paulussen, Aimée, Smeets, Hubert J., Hehr, Ute, Bendavid, Claude, Bale, Sherri, Odent, Sylvie, David, Véronique und Muenke, Maximilian (2009) The mutational spectrum of holoprosencephaly-associated changes within theSHHgene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis. Human Mutation 30 (10), E921-E935. Volltext nicht vorhanden.

Bohring, Axel, Stamm, Thomas, Spaich, Christiane, Haase, Claudia, Spree, Kerstin, Hehr, Ute, Hoffmann, Mandy, Ledig, Susanne, Sel, Saadettin , Wieacker, Peter und Röpke, Albrecht (2009) WNT10A Mutations Are a Frequent Cause of a Broad Spectrum of Ectodermal Dysplasias with Sex-Biased Manifestation Pattern in Heterozygotes. The American Journal of Human Genetics 85 (1), S. 97-105. Volltext nicht vorhanden.

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

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

Hehr, Ute, Bauer, Peter, Winner, Beate , Bogdahn, Ulrich , Weber, Bernhard H. F., make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference , make_name_string expected hash reference, make_name_string expected hash reference , make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference , make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference und make_name_string expected hash reference (2007) Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia. Annals of Neurology 27, S. 381-392. Volltext nicht vorhanden.

Hehr, Ute, Uyanik, Goekhan, Gross, Claudia, Walter, Maggie C., Bohring, Axel, Cohen, Monika, Oehl-Jaschkowitz, Barbara, Bird, Lynne M. , Shamdeen, Ghiat M., Bogdahn, Ulrich, Schuierer, Gerhard, Topaloglu, Haluk, Aigner, Ludwig, Lochmüller, Hanns und Winkler, Jürgen (2007) Novel POMGnT1 mutations define broader phenotypic spectrum of muscle–eye–brain disease. Neurogenetics 8 (4), S. 279-288. Volltext nicht vorhanden.

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

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

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

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

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