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Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function.
Lin L, Philibert P, Ferraz-de-Souza B, Kelberman D, Homfray T, Albanese A, Molini V, Sebire NJ, Einaudi S, Conway GS, Hughes IA, Jameson JL, Sultan C, Dattani MT, Achermann JC. Lin L, et al. J Clin Endocrinol Metab. 2007 Mar;92(3):991-9. doi: 10.1210/jc.2006-1672. Epub 2007 Jan 2. J Clin Endocrinol Metab. 2007. PMID: 17200175 Free PMC article.
Disorders of adrenal development.
Ferraz-de-Souza B, Achermann JC. Ferraz-de-Souza B, et al. Endocr Dev. 2008;13:19-32. doi: 10.1159/000134753. Endocr Dev. 2008. PMID: 18493131 Review.
CBP/p300-interacting transactivator, with Glu/Asp-rich C-terminal domain, 2, and pre-B-cell leukemia transcription factor 1 in human adrenal development and disease.
Ferraz-de-Souza B, Martin F, Mallet D, Hudson-Davies RE, Cogram P, Lin L, Gerrelli D, Beuschlein F, Morel Y, Huebner A, Achermann JC. Ferraz-de-Souza B, et al. J Clin Endocrinol Metab. 2009 Feb;94(2):678-83. doi: 10.1210/jc.2008-1064. Epub 2008 Nov 4. J Clin Endocrinol Metab. 2009. PMID: 18984668 Free PMC article.
Steroidogenic factor-1 (SF-1, NR5A1) and human disease.
Ferraz-de-Souza B, Lin L, Achermann JC. Ferraz-de-Souza B, et al. Mol Cell Endocrinol. 2011 Apr 10;336(1-2):198-205. doi: 10.1016/j.mce.2010.11.006. Epub 2010 Nov 13. Mol Cell Endocrinol. 2011. PMID: 21078366 Free PMC article. Review.
Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1.
Bashamboo A, Ferraz-de-Souza B, Lourenço D, Lin L, Sebire NJ, Montjean D, Bignon-Topalovic J, Mandelbaum J, Siffroi JP, Christin-Maitre S, Radhakrishna U, Rouba H, Ravel C, Seeler J, Achermann JC, McElreavey K. Bashamboo A, et al. Am J Hum Genet. 2010 Oct 8;87(4):505-12. doi: 10.1016/j.ajhg.2010.09.009. Am J Hum Genet. 2010. PMID: 20887963 Free PMC article.
37 results