Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations

Autor: Danielle J. Owen, David FitzPatrick, Nina Mann, Stuart B. Bauer, Ilona Krey, Heather C Mefford, Jacob Zyskind, Roger Fick, Ana C. Onuchic-Whitford, Floor A. M. Duijkers, Etienne Coyaud, Simon E. Fisher, Juliann M. Savatt, Richard P. Lifton, Isabel Ottlewski, Amelie T. van der Ven, Peter J. Hulick, Nancy Rodig, Michelle A. Baum, Marielle Alders, Elysa J. Marco, Konrad Platzer, Ghaleb Daouk, Hadas Ityel, Eva H. Brilstra, Ian A. Glass, Heiko Reutter, Adda L. Graham-Paquin, Makiko Nakayama, Michael A. J. Ferguson, Amy Kolb, Weining Lu, Florian Buerger, Prabha Senguttuvan, Marcia Ferguson, Ronen Schneider, Isabelle Thiffault, Hila Milo Rasouly, Verena Klämbt, Tobias Bartolomaeus, Evan Chen, Mao Youying, Amar J. Majmundar, Jia Rao, Carrie Costin, Dina Ahram, Ali G. Gharavi, Lot Snijders Blok, Avram Z. Traum, Franziska Kause, Konstantin Deutsch, Arianna Vino, Dervla M. Connaughton, Antonie D. Kline, Deborah R. Stein, Daanya Salmanullah, Maxime Bouchard, Estelle M.N. Laurent, Audrey Squire, Daniel G. MacArthur, Kristen M. Laricchia, Asaf Vivante, Thomas M. Kitzler, Jonathan St-Germain, Brian Raught, Heidi L. Rehm, Ellen van Binsbergen, Chen Han Wilfred Wu, Caroline M. Kolvenbach, Monkol Lek, Selvin Kumar, Jing Chen, Mustafa K. Khokha, Ankana Daga, Hong Xu, Andrew D. Sharrocks, N. V. Shcherbakova, Simone Sanna-Cherchi, Inna S. Povolotskaya, Tze Y Lim, Johanna M. Rieke, Katrina M. Dipple, Gabriel C. Dworschak, Michael J. Somers, Tobias Hermle, Stefan Kohl, Steve Seltzsam, Victoria Y. Voinova, Shirlee Shril, Ingrid M. Wentzensen, Daw Yang Hwang, Velibor Tasic, Shrikant Mane, Jonathan Marquez, Friedhelm Hildebrandt, Rufeng Dai, Paulien A Terhal, Loai A. Eid, Thomas D. Challman

Publikováno v: American Journal of Human Genetics
American Journal of Human Genetics, 2020, 107 (4), pp.727-742. ⟨10.1016/j.ajhg.2020.08.013⟩
American journal of human genetics, 107(4), 727-742. Cell Press
Am J Hum Genet
American Journal of Human Genetics, 107, 4, pp. 727-742
American Journal of Human Genetics, Elsevier (Cell Press), 2020, 107 (4), pp.727-742. ⟨10.1016/j.ajhg.2020.08.013⟩
The American Journal of Human Genetics
American Journal of Human Genetics, 107, 727-742

International audience; Congenital anomalies of the kidney and urinary tract (CAKUT) constitute one of the most frequent birth defects and represent the most common cause of chronic kidney disease in the first three decades of life. Despite the disco

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0bcf100f3cbcb4de0590d4409d43436
http://www.scopus.com/inward/record.url?scp=85091260805&partnerID=8YFLogxK

Pathogenic variants in TNRC6B cause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD

Autor: Céline Bonnet, Carrie Costin, Caitlin E. Lawson, Margje Sinnema, Merel Klaassens, Xia Wang, Jorge L. Granadillo, Ana Claudia Latronico, Kun Xia, C. T. R. M. Stumpel, Ingrid P.C. Krapels, Judith D. Ranells, Jinliang Li, Kelly Bontempo, Marwan Shinawi, Richard Pearson, Joost Nicolai, Elysa J. Marco, Jill A. Rosenfeld, Rolph Pfundt, Shivarajan Manickavasagam Amudhavalli, Brad Angle, Bruno Leheup, Kirsty McWalter, Malin Kvarnung, Weimin Bi, Ana Pinheiro Machado Canton, Patricia Newkirk, Bianca Panis, Luciana Ribeiro Montenegro, Joleen Viront, Aida Telegrafi, Alexander P.A. Stegmann, Hui Guo, Yuwu Jiang

Publikováno v: Journal of Medical Genetics, 57, 717-724
Journal of Medical Genetics, 57, 10, pp. 717-724
Journal of Medical Genetics, 57(10), 717-724. BMJ Publishing Group

BackgroundRare variants in hundreds of genes have been implicated in developmental delay (DD), intellectual disability (ID) and neurobehavioural phenotypes. TNRC6B encodes a protein important for RNA silencing. Heterozygous truncating variants have b

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5b8b144693388e22bb8dab82f88dd58
http://hdl.handle.net/2066/226271

SAT-293 Novel Presentation Of A Heterozygous INSR Mutation And Markedly Elevated Testosterone Levels In A Pediatric Patient, A Case Report

Autor: Natinder Saini, Carrie Costin, Jaime Haidet

Publikováno v: Journal of the Endocrine Society

Background: Type A Insulin Resistance Syndrome is a rare disorder characterized by severe insulin resistance. Affected females may present with primary amenorrhea, oligomenorrhea, cystic ovaries, hirsutism, and acanthosis nigricans in the absence of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::011fd3c281b01af543763dba2103a71b
http://europepmc.org/articles/PMC6551947