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Items: 12

Select item 53925981.

NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development

Dorien Baetens, Hans Stoop, Frank Peelman, Anne-Laure Todeschini, Toon Rosseel, Frauke Coppieters, Reiner A. Veitia, Leendert H.J. Looijenga, Elfride De Baere, Martine Cools

Genet Med. 2017 Apr; 19(4): 367–376. Published online 2016 Aug 4. doi: 10.1038/gim.2016.118

PMCID:: PMC5392598

Abstract Article PDF–2.9M

Select item 53885692.

A 46,XX ovotesticular disorder of sex development likely caused by a SF-1 (NR5A1) variant

Jonathan M Swartz, Ryan Ciarlo, Michael H Guo, Aser Abrha, Benjamin Weaver, David A Diamond, Yee-Ming Chan, Joel N Hirschhorn

Horm Res Paediatr. Author manuscript; available in PMC 2018 Jan 1.

Published in final edited form as: Horm Res Paediatr. 2017; 87(3): 191–195. Published online 2016 Nov 18. doi: 10.1159/000452888

PMCID:: PMC5388569

Abstract Article PDF–759K

Select item 51799413.

A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development

Anu Bashamboo, Patricia A. Donohoue, Eric Vilain, Sandra Rojo, Pierre Calvel, Sumudu N. Seneviratne, Federica Buonocore, Hayk Barseghyan, Nathan Bingham, Jill A. Rosenfeld, Surya Narayan Mulukutla, Mahim Jain, Lindsay Burrage, Shweta Dhar, Ashok Balasubramanyam, Brendan Lee, Members of UDN, Marie-Charlotte Dumargne, Caroline Eozenou, Jenifer P. Suntharalingham, KSH de Silva, Lin Lin, Joelle Bignon-Topalovic, Francis Poulat, Carlos F. Lagos, Ken McElreavey, John C. Achermann

Hum Mol Genet. 2016 Aug 15; 25(16): 3446–3453. Published online 2016 Jul 4. doi: 10.1093/hmg/ddw186

Correction in:: Hum Mol Genet. 2016 Dec 1; 25(23): 5286.

PMCID:: PMC5179941

Abstract Article PDF–658K

Select item 47018524.

Rare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide Cohort

Tulay Guran, Federica Buonocore, Nurcin Saka, Mehmet Nuri Ozbek, Zehra Aycan, Abdullah Bereket, Firdevs Bas, Sukran Darcan, Aysun Bideci, Ayla Guven, Korcan Demir, Aysehan Akinci, Muammer Buyukinan, Banu Kucukemre Aydin, Serap Turan, Sebahat Yilmaz Agladioglu, Zeynep Atay, Zehra Yavas Abali, Omer Tarim, Gonul Catli, Bilgin Yuksel, Teoman Akcay, Metin Yildiz, Samim Ozen, Esra Doger, Huseyin Demirbilek, Ahmet Ucar, Emregul Isik, Bayram Ozhan, Semih Bolu, Ilker Tolga Ozgen, Jenifer P. Suntharalingham, John C. Achermann

J Clin Endocrinol Metab. 2016 Jan; 101(1): 284–292. Published online 2015 Nov 2. doi: 10.1210/jc.2015-3250

PMCID:: PMC4701852

Abstract Article

Select item 29488055.

Human Male Infertility Associated with Mutations in NR5A1 Encoding Steroidogenic Factor 1

Anu Bashamboo, Bruno Ferraz-de-Souza, Diana Lourenço, Lin Lin, Neil J. Sebire, Debbie Montjean, Joelle Bignon-Topalovic, Jacqueline Mandelbaum, Jean-Pierre Siffroi, Sophie Christin-Maitre, Uppala Radhakrishna, Hassan Rouba, Celia Ravel, Jacob Seeler, John C. Achermann, Ken McElreavey

Am J Hum Genet. 2010 Oct 8; 87(4): 505–512. doi: 10.1016/j.ajhg.2010.09.009

Correction in:: Am J Hum Genet. 2010 Nov 12; 87(5): 736.

PMCID:: PMC2948805

Abstract Article PDF–667K

Select item 27781476.

Mutations in NR5A1 Associated with Ovarian Insufficiency

Diana Lourenço, Raja Brauner, Lin Lin, Arantzazu De Perdigo, Georges Weryha, Mihaela Muresan, Radia Boudjenah, Gil Guerra-Junior, Andréa T. Maciel-Guerra, John C. Achermann, Ken McElreavey, Anu Bashamboo

N Engl J Med. Author manuscript; available in PMC 2009 Nov 17.

Published in final edited form as: N Engl J Med. 2009 Mar 19; 360(12): 1200–1210. Published online 2009 Feb 25. doi: 10.1056/NEJMoa0806228

PMCID:: PMC2778147

Abstract Article PDF–1.3M

Select item 23596287.

Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency

Birgit Köhler, Lin Lin, Bruno Ferraz-de-Souza, Peter Wieacker, Peter Heidemann, Vanessa Schröder, Heike Biebermann, Dirk Schnabel, Annette Grüters, John C Achermann

Hum Mutat. 2008 Jan; 29(1): 59–64. doi: 10.1002/humu.20588

PMCID:: PMC2359628

Abstract Article PDF–267K

Select item 18720538.

Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function

Lin Lin, Pascal Philibert, Bruno Ferraz-de-Souza, Daniel Kelberman, Tessa Homfray, Assunta Albanese, Veruska Molini, Neil J. Sebire, Silvia Einaudi, Gerard S. Conway, Ieuan A. Hughes, J. Larry Jameson, Charles Sultan, Mehul T. Dattani, John C. Achermann

J Clin Endocrinol Metab. Author manuscript; available in PMC 2007 May 21.

Published in final edited form as: J Clin Endocrinol Metab. 2007 Mar; 92(3): 991–999. Published online 2007 Jan 2. doi: 10.1210/jc.2006-1672