Einträge von Nürnberg, Peter auf dem Publikationsserver

Nuzhat, Nafisa , Van Schil, Kristof , Liakopoulos, Sandra, Bauwens, Miriam, Rey, Alfredo Dueñas, Käseberg, Stephan, Jäger, Melanie, Willer, Jason R. , Winter, Jennifer, Truong, Hanh M. , Gruartmoner, Nuria, Van Heetvelde, Mattias, Wolf, Joachim, Merget, Robert, Grasshoff-Derr, Sabine, Van Dorpe, Jo, Hoorens, Anne, Stöhr, Heidi, Mansard, Luke, Roux, Anne-Françoise , Langmann, Thomas, Dannhausen, Katharina, Rosenkranz, David, Wissing, Karl M., Van Lint, Michel, Rossmann, Heidi , Häuser, Friederike, Nürnberg, Peter, Thiele, Holger, Zechner, Ulrich, Pearring, Jillian N. , De Baere, Elfride und Bolz, Hanno J. (2023) CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis. Journal of Clinical Investigation 133 (8). Volltext nicht vorhanden.

Dumont, Martine , Weber-Lassalle, Nana, Joly-Beauparlant, Charles, Ernst, Corinna , Droit, Arnaud, Feng, Bing-Jian, Dubois, Stéphane, Collin-Deschesnes, Annie-Claude, Soucy, Penny, Vallée, Maxime, Fournier, Frédéric, Lemaçon, Audrey, Adank, Muriel A., Allen, Jamie, Altmüller, Janine, Arnold, Norbert , Ausems, Margreet G. E. M. , Berutti, Riccardo, Bolla, Manjeet K., Bull, Shelley , Carvalho, Sara, Cornelissen, Sten, Dufault, Michael R. , Dunning, Alison M., Engel, Christoph , Gehrig, Andrea, Geurts-Giele, Willemina R. R., Gieger, Christian, Green, Jessica, Hackmann, Karl, Helmy, Mohamed, Hentschel, Julia, Hogervorst, Frans B. L., Hollestelle, Antoinette, Hooning, Maartje J., Horváth, Judit, Ikram, M. Arfan, Kaulfuß, Silke , Keeman, Renske, Kuang, Da, Luccarini, Craig, Maier, Wolfgang, Martens, John W. M. , Niederacher, Dieter, Nürnberg, Peter , Ott, Claus-Eric , Peters, Annette , Pharoah, Paul D. P., Ramirez, Alfredo , Ramser, Juliane, Riedel-Heller, Steffi, Schmidt, Gunnar , Shah, Mitul, Scherer, Martin, Stäbler, Antje, Strom, Tim M., Sutter, Christian, Thiele, Holger, van Asperen, Christi J., van der Kolk, Lizet, van der Luijt, Rob B., Volk, Alexander E., Wagner, Michael , Waisfisz, Quinten, Wang, Qin, Wang-Gohrke, Shan, Weber, Bernhard H. F. , Devilee, Peter , Tavtigian, Sean, Bader, Gary D. , Meindl, Alfons, Goldgar, David E., Andrulis, Irene L., Schmutzler, Rita K., Easton, Douglas F., Schmidt, Marjanka K. , Hahnen, Eric und Simard, Jacques (2022) Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry. Cancers 14 (14), S. 3363. Volltext nicht vorhanden.

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.

Kargapolova, Yulia , Rehimi, Rizwan, Kayserili, Hülya , Brühl, Joanna, Sofiadis, Konstantinos, Zirkel, Anne, Palikyras, Spiros, Mizi, Athanasia, Li, Yun, Yigit, Gökhan , Hoischen, Alexander , Frank, Stefan, Russ, Nicole, Trautwein, Jonathan, van Bon, Bregje, Gilissen, Christian , Laugsch, Magdalena, Gusmao, Eduardo Gade, Josipovic, Natasa , Altmüller, Janine, Nürnberg, Peter, Längst, Gernot, Kaiser, Frank J., Watrin, Erwan, Brunner, Han, Rada-Iglesias, Alvaro , Kurian, Leo , Wollnik, Bernd , Bouazoune, Karim und Papantonis, Argyris (2021) Overarching control of autophagy and DNA damage response by CHD6 revealed by modeling a rare human pathology. Nature Communications 12 (1). Volltext nicht vorhanden.

Grassmann, Felix , Harsch, Sebastian, Brandl, Caroline , Kiel, Christina, Nürnberg, Peter, Toliat, Mohammad R., Fleckenstein, Monika, Pfau, Maximilian, Schmitz-Valckenberg, Steffen, Holz, Frank G., Chew, Emily Y., Swaroop, Anand, Ratnapriya, Rinki , Klein, Michael L., Mulyukov, Zufar, Zamiri, Parisa und Weber, Bernhard H. F. (2019) Assessment of Novel Genome-Wide Significant Gene Loci and Lesion Growth in Geographic Atrophy Secondary to Age-Related Macular Degeneration. JAMA Ophthalmology 137 (8), S. 867. Volltext nicht vorhanden.

Hauke, Jan, Horvath, Judit, Groß, Eva, Gehrig, Andrea, Honisch, Ellen, Hackmann, Karl, Schmidt, Gunnar, Arnold, Norbert , Faust, Ulrike, Sutter, Christian, Hentschel, Julia, Wang-Gohrke, Shan, Smogavec, Mateja, Weber, Bernhard H. F., Weber-Lassalle, Nana, Weber-Lassalle, Konstantin, Borde, Julika, Ernst, Corinna, Altmüller, Janine, Volk, Alexander E., Thiele, Holger, Hübbel, Verena, Nürnberg, Peter, Keupp, Katharina, Versmold, Beatrix, Pohl, Esther, Kubisch, Christian , Grill, Sabine, Paul, Victoria, Herold, Natalie, Lichey, Nadine, Rhiem, Kerstin, Ditsch, Nina, Ruckert, Christian , Wappenschmidt, Barbara, Auber, Bernd, Rump, Andreas, Niederacher, Dieter, Haaf, Thomas, Ramser, Juliane, Dworniczak, Bernd, Engel, Christoph , Meindl, Alfons, Schmutzler, Rita K. und Hahnen, Eric (2018) Gene panel testing of 5589 BRCA1/2 -negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer. Cancer Medicine 7 (4), S. 1349-1358. Volltext nicht vorhanden.

Li, Man , Li, Yong , Weeks, Olivia, Mijatovic, Vladan, Teumer, Alexander, Huffman, Jennifer E., Tromp, Gerard , Fuchsberger, Christian, Gorski, Mathias, Lyytikäinen, Leo-Pekka, Nutile, Teresa, Sedaghat, Sanaz, Sorice, Rossella, Tin, Adrienne, Yang, Qiong, Ahluwalia, Tarunveer S., Arking, Dan E., Bihlmeyer, Nathan A. , Böger, Carsten A., Carroll, Robert J., Chasman, Daniel I., Cornelis, Marilyn C., Dehghan, Abbas, Faul, Jessica D. , Feitosa, Mary F. , Gambaro, Giovanni, Gasparini, Paolo, Giulianini, Franco, Heid, Iris, Huang, Jinyan, Imboden, Medea, Jackson, Anne U., Jeff, Janina, Jhun, Min A., Katz, Ronit, Kifley, Annette, Kilpeläinen, Tuomas O. , Kumar, Ashish, Laakso, Markku, Li-Gao, Ruifang, Lohman, Kurt, Lu, Yingchang, Mägi, Reedik, Malerba, Giovanni, Mihailov, Evelin, Mohlke, Karen L., Mook-Kanamori, Dennis O., Robino, Antonietta, Ruderfer, Douglas, Salvi, Erika, Schick, Ursula M., Schulz, Christina-Alexandra, Smith, Albert V. , Smith, Jennifer A. , Traglia, Michela, Yerges-Armstrong, Laura M., Zhao, Wei, Goodarzi, Mark O., Kraja, Aldi T., Liu, Chunyu, Wessel, Jennifer , Boerwinkle, Eric, Borecki, Ingrid B., Bork-Jensen, Jette, Bottinger, Erwin P., Braga, Daniele, Brandslund, Ivan, Brody, Jennifer A., Campbell, Archie, Carey, David J., Christensen, Cramer, Coresh, Josef, Crook, Errol, Curhan, Gary C., Cusi, Daniele, de Boer, Ian H., de Vries, Aiko P. J. , Denny, Joshua C., Devuyst, Olivier, Dreisbach, Albert W., Endlich, Karlhans , Esko, Tõnu, Franco, Oscar H. , Fulop, Tibor, Gerhard, Glenn S., Glümer, Charlotte, Gottesman, Omri, Grarup, Niels , Gudnason, Vilmundur, Hansen, Torben, Harris, Tamara B., Hayward, Caroline, Hocking, Lynne, Hofman, Albert, Hu, Frank B., Husemoen, Lise Lotte N., Jackson, Rebecca D., Jørgensen, Torben , Jørgensen, Marit E. , Kähönen, Mika, Kardia, Sharon L. R., König, Wolfgang, Kooperberg, Charles, Kriebel, Jennifer , Launer, Lenore J., Lauritzen, Torsten, Lehtimäki, Terho, Levy, Daniel, Linksted, Pamela, Linneberg, Allan, Liu, Yongmei, Loos, Ruth J. F. , Lupo, Antonio, Meisinger, Christine, Melander, Olle, Metspalu, Andres, Mitchell, Paul, Nauck, Matthias, Nürnberg, Peter, Orho-Melander, Marju, Parsa, Afshin, Pedersen, Oluf , Peters, Annette , Peters, Ulrike , Polasek, Ozren , Porteous, David, Probst-Hensch, Nicole M., Psaty, Bruce M., Qi, Lu, Raitakari, Olli T., Reiner, Alex P., Rettig, Rainer, Ridker, Paul M., Rivadeneira, Fernando, Rossouw, Jacques E., Schmidt, Frank, Siscovick, David, Soranzo, Nicole, Strauch, Konstantin, Toniolo, Daniela, Turner, Stephen T., Uitterlinden, André G., Ulivi, Sheila, Velayutham, Dinesh, Völker, Uwe, Völzke, Henry, Waldenberger, Melanie , Wang, Jie Jin, Weir, David R., Witte, Daniel , Kuivaniemi, Helena , Fox, Caroline S., Franceschini, Nora, Goessling, Wolfram, Köttgen, Anna und Chu, Audrey Y. (2016) SOS2 and ACP1 Loci Identified through Large-Scale Exome Chip Analysis Regulate Kidney Development and Function. Journal of the American Society of Nephrology 28 (3), S. 981-994. Volltext nicht vorhanden.

Basmanav, F. Buket, Oprisoreanu, Ana-Maria, Pasternack, Sandra M., Thiele, Holger, Fritz, Günter , Wenzel, Jörg , Größer, Leopold, Wehner, Maria, Wolf, Sabrina, Fagerberg, Christina , Bygum, Anette , Altmüller, Janine, Rütten, Arno, Parmentier, Laurent, El Shabrawi-Caelen, Laila, Hafner, Christian, Nürnberg, Peter, Kruse, Roland, Schoch, Susanne, Hanneken, Sandra und Betz, Regina C. (2014) Mutations in POGLUT1, Encoding Protein O-Glucosyltransferase 1, Cause Autosomal-Dominant Dowling-Degos Disease. The American Journal of Human Genetics 94 (1), S. 135-143. Volltext nicht vorhanden.

Olbrich, Heike, Schmidts, Miriam , Werner, Claudius, Onoufriadis, Alexandros, Loges, Niki T., Raidt, Johanna, Banki, Nora Fanni, Shoemark, Amelia , Burgoyne, Tom , Al Turki, Saeed, Hurles, Matthew E., Köhler, Gabriele, Schroeder, Josef, Nürnberg, Gudrun, Nürnberg, Peter, Chung, Eddie M.K., Reinhardt, Richard , Marthin, June K., Nielsen, Kim G., Mitchison, Hannah M. und Omran, Heymut (2012) Recessive HYDIN Mutations Cause Primary Ciliary Dyskinesia without Randomization of Left-Right Body Asymmetry. The American Journal of Human Genetics 91 (4), S. 672-684. Volltext nicht vorhanden.

Brinckmann, Anja, Rüther, Klaus, Williamson, Kathleen, Lorenz, Birgit, Lucke, Barbara, Nürnberg, Peter, Trijbels, Frans, Janssen, Antoon und Schuelke, Markus (2007) De novo double mutation in PAX6 and mtDNA tRNA Lys associated with atypical aniridia and mitochondrial disease. Journal of Molecular Medicine 85 (2), S. 163-168. Volltext nicht vorhanden.

Broeckel, Ulrich, Hengstenberg, Christian, Mayer, Björn, Holmer, Stephan, Martin, Lisa J. , Comuzzie, Anthony G., Blangero, John, Nürnberg, Peter, Reis, André , Riegger, Günter A.J., Jacob, Howard J. und Schunkert, Heribert (2002) A comprehensive linkage analysis for myocardial infarction and its related risk factors. Nature Genetics 30 (2), S. 210-214. Volltext nicht vorhanden.