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Germline C1GALT1C1 mutation causes a multisystem chaperonopathy Erger, Florian; Aryal, Rajindra P.; Reusch, Bjoern; Matsumoto, Yasuyuki; Meyer, Robert; Zeng, Junwei; Knopp, Cordula; Noel, Maxence; Muerner, Lukas; Wenzel, Andrea; Kohl, Stefan; Tschernoster, Nikolai; Rappl, Gunter; Rouvet, Isabelle; Schroeder-Braunstein, Jutta; Seibert, Felix S.; Thiele, Holger; Haeusler, Martin G.; Weber, Lutz T.; Buettner-Herold, Maike; Elbracht, Miriam; Cummings, Sandra F.; Altmueller, Janine; Habbig, Sandra; Cummings, Richard D.; Beck, Bodo B. 分享 收藏
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Expanding the Spectrum of FAT1 Nephropathies by Novel Mutations That Affect Hippo Signaling Fabretti, Francesca; Tschernoster, Nikolai; Erger, Florian; Hedergott, Andrea; Buescher, Anja K.; Dafinger, Claudia; Reusch, Bjoern; Koentges, Vincent K.; Kohl, Stefan; Bartram, Malte P.; Weber, Lutz Thorsten; Thiele, Holger; Altmueller, Janine; Schermer, Bernhard; Beck, Bodo B.; Habbig, Sandra 分享 收藏
Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations Connaughton, Dervla M.; Dai, Rufeng; Owen, Danielle J.; Marquez, Jonathan; Mann, Nina; Graham-Paquin, Adda L.; Nakayama, Makiko; Coyaud, Etienne; Laurent, Estelle Mn; St-Germain, Jonathan R.; Blok, Lot Snijders; Vino, Arianna; Klambt, Verena; Deutsch, Konstantin; Wu, Chen-Han Wilfred; Kolvenbach, Caroline M.; Kause, Franziska; Ottlewski, Isabel; Schneider, Ronen; Kitzler, Thomas M.; Majmundar, Amar J.; Buerger, Florian; Onuchic-Whitford, Ana C.; Mao Youying; Kolb, Amy; Salmanullah, Daanya; Chen, Evan; van der Ven, Amelie T.; Rao, Jia; Ityel, Hadas; Seltzsam, Steve; Rieke, Johanna M.; Chen, Jing; Vivante, Asaf; Hwang, Daw-Yang; Kohl, Stefan; Dworschak, Gabriel C.; Hermle, Tobias; Alders, Marielle; Bartolomaeus, Tobias; Bauer, Stuart B.; Baum, Michelle A.; Brilstra, Eva H.; Challman, Thomas D.; Zyskind, Jacob; Costin, Carrie E.; Dipple, Katrina M.; Duijkers, Floor A.; Ferguson, Marcia; Fitzpatrick, David R.; Fick, Roger; Glass, Ian A.; Hulick, Peter J.; Kline, Antonie D.; Krey, Ilona; Kumar, Selvin; Lu, Weining; Marco, Elysa J.; Wentzensen, Ingrid M.; Mefford, Heather C.; Platzer, Konrad; Povolotskaya, Inna S.; Savatt, Juliann M.; Shcherbakova, Natalia, V; Senguttuvan, Prabha; Squire, Audrey E.; Stein, Deborah R.; Thiffault, Isabelle; Voinova, Victoria Y.; Somers, Michael J. G.; Ferguson, Michael A.; Traum, Avram Z.; Daouk, Ghaleb H.; Daga, Ankana; Rodig, Nancy M.; Terhal, Paulien A.; van Binsbergen, Ellen; Eid, Loai A.; Tasic, Velibor; Rasouly, Hila Milo; Lim, Tze Y.; Ahram, Dina F.; Gharavi, Ali G.; Reutter, Heiko M.; Rehm, Heidi L.; MacArthur, Daniel G.; Lek, Monkol; Laricchia, Kristen M.; Lifton, Richard P.; Xu, Hong; Mane, Shrikant M.; Sanna-Cherchi, Simone; Sharrocks, Andrew D.; Raught, Brian; Fisher, Simon E.; Bouchard, Maxime; Khokha, Mustafa K.; Shril, Shirlee; Hildebrandt, Friedhelm 分享 收藏
COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans Kitzler, Thomas M.; Schneider, Ronen; Kohl, Stefan; Kolvenbach, Caroline M.; Connaughton, Deryla M.; Dai, Rufeng; Mann, Nina; Nakayama, Makiko; Majmundar, Amar J.; Wu, Chen-Han W.; Kari, Jameela A.; El Desoky, Sherif M.; Senguttuvan, Prabha; Bogdanovic, Radovan; Stajic, Natasa; Valivullah, Zaheer; Lek, Monkol; Mane, Shrikant; Lifton, Richard P.; Tasic, Velibor; Shril, Shirlee; Hildebrandt, Friedhelm 分享 收藏
Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome Warejko, Jillian K.; Tan, Weizhen; Daga, Ankana; Schapiro, David; Lawson, Jennifer A.; Shril, Shirlee; Lovric, Svjetlana; Ashraf, Shazia; Rao, Jia; Hermle, Tobias; Jobst-Schwan, Tilman; Widmeier, Eugen; Majmundar, Amar J.; Schneider, Ronen; Gee, Heon Yung; Schmidt, J. Magdalena; Vivante, Asaf; van der Ven, Amelie T.; Ityel, Hadas; Chen, Jing; Sadowski, Carolin E.; Kohl, Stefan; Pabst, Werner L.; Nakayama, Makiko; Somers, Michael J. G.; Rodig, Nancy M.; Daouk, Ghaleb; Baum, Michelle; Stein, Deborah R.; Ferguson, Michael A.; Traum, Avram Z.; Soliman, Neveen A.; Kari, Jameela A.; El Desoky, Sherif; Fathy, Hanan; Zenker, Martin; Bakkaloglu, Sevcan A.; Mueller, Dominik; Noyan, Aytul; Ozaltin, Fatih; Cadnapaphornchai, Melissa A.; Hashmi, Seema; Hopcian, Jeffrey; Kopp, Jeffrey B.; Benador, Nadine; Bockenhauer, Detlef; Bogdanovic, Radovan; Stajic, Natasa; Chernin, Gil; Ettenger, Robert; Fehrenbach, Henry; Kemper, Markus; Munarriz, Reyner Loza; Podracka, Ludmila; Buscher, Rainer; Serdaroglu, Erkin; Tasic, Velibor; Mane, Shrikant; Lifton, Richard P.; Braun, Daniela A.; Hildebrandt, Friedhelm 分享 收藏
Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies Implicate ZIC3 and FOXF1 in Human VATER/VACTERL Association Hilger, Alina C.; Halbritter, Jan; Pennimpede, Tracie; van der Ven, Amelie; Sarma, Georgia; Braun, Daniela A.; Porath, Jonathan D.; Kohl, Stefan; Hwang, Daw-Yang; Dworschak, Gabriel C.; Hermann, Bernhard G.; Pavlova, Anna; El-Maarri, Osman; Noethen, Markus M.; Ludwig, Michael; Reutter, Heiko; Hildebrandt, Friedhelm 分享 收藏
Hormone-mediated growth dynamics of the barley pericarp as revealed by magnetic resonance imaging and transcript profiling Pielot, Rainer; Kohl, Stefan; Manz, Bertram; Rutten, Twan; Weier, Diana; Tarkowska, Danuse; Rolcik, Jakub; Strnad, Miroslav; Volke, Frank; Weber, Hans; Weschke, Winfriede 分享 收藏
Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development Vivante, Asaf; Kleppa, Marc-Jens; Schulz, Julian; Kohl, Stefan; Sharma, Amita; Chen, Jing; Shril, Shirlee; Hwang, Daw-Yang; Weiss, Anna-Carina; Kaminski, Michael M.; Shukrun, Rachel; Kemper, Markus J.; Lehnhardt, Anja; Beetz, Rolf; Sanna-Cherchi, Simone; Verbitsky, Miguel; Gharavi, All G.; Stuart, Helen M.; Feather, Sally A.; Goodship, Judith A.; Goodship, Timothy H. J.; Woolf, Adrian S.; Westra, Sjirk J.; Doody, Daniel P.; Bauer, Stuart B.; Lee, Richard S.; Adam, Rosalyn M.; Lu, Weining; Reutter, Heiko M.; Kehinde, Elijah O.; Mancini, Erika J.; Lifton, Richard P.; Tasic, Velibor; Lienkamp, Soeren S.; Jueppner, Harald; Kispert, Andreas; Hildebrandt, Friedhelm 分享 收藏
Mutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract Hwang, Daw-Yang; Kohl, Stefan; Fan, Xueping; Vivante, Asaf; Chan, Stefanie; Dworschak, Gabriel C.; Schulz, Julian; van Eerde, Albertien M.; Hilger, Alina C.; Gee, Heon Yung; Pennimpede, Tracie; Herrmann, Bernhard G.; van de Hoek, Glenn; Renkema, Kirsten Y.; Schell, Christoph; Huber, Tobias B.; Reutter, Heiko M.; Soliman, Neveen A.; Stajic, Natasa; Bogdanovic, Radovan; Kehinde, Elijah O.; Lifton, Richard P.; Tasic, Velibor; Lu, Weining; Hildebrandt, Friedhelm 分享 收藏
KANK deficiency leads to pod ocyte dysfunction and nephrotic syndrome Gee, Heon Yung; Zhang, Fujian; Ashraf, Shazia; Kohl, Stefan; Sadowski, Carolin E.; Vega-Warner, Virginia; Zhou, Weibin; Lovric, Svjetlana; Fang, Humphrey; Nettleton, Margaret; Zhu, Jun-yi; Hoefele, Julia; Weber, Lutz T.; Podracka, Ludmila; Boor, Andrej; Fehrenbach, Henry; Innis, Jeffrey W.; Washburn, Joseph; Levy, Shawn; Lifton, Richard P.; Otto, Edgar A.; Han, Zhe; Hildebrandt, Friedhelm 分享 收藏
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Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract Hwang, Daw-Yang; Dworschak, Gabriel C.; Kohl, Stefan; Saisawat, Pawaree; Vivante, Asaf; Hilger, Alina C.; Reutter, Heiko M.; Soliman, Neveen A.; Bogdanovic, Radovan; Kehinde, Elijah O.; Tasic, Velibor; Hildebrandt, Friedhelm 分享 收藏
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