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Wide spectrum of NR5A1-related phenotypes in 46,XY and 46,XX individuals.
Domenice S, Machado AZ, Ferreira FM, Ferraz-de-Souza B, Lerario AM, Lin L, Nishi MY, Gomes NL, da Silva TE, Silva RB, Correa RV, Montenegro LR, Narciso A, Costa EM, Achermann JC, Mendonca BB. Domenice S, et al. Birth Defects Res C Embryo Today. 2016 Dec;108(4):309-320. doi: 10.1002/bdrc.21145. Birth Defects Res C Embryo Today. 2016. PMID: 28033660 Free PMC article. Review.
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.
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.
37 results