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A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development.
Bashamboo A, Donohoue PA, Vilain E, Rojo S, Calvel P, Seneviratne SN, Buonocore F, Barseghyan H, Bingham N, Rosenfeld JA, Mulukutla SN, Jain M, Burrage L, Dhar S, Balasubramanyam A, Lee B; Members of UDN; Dumargne MC, Eozenou C, Suntharalingham JP, de Silva K, Lin L, Bignon-Topalovic J, Poulat F, Lagos CF, McElreavey K, Achermann JC. Bashamboo A, et al. Among authors: achermann jc. Hum Mol Genet. 2016 Dec 1;25(23):5286. doi: 10.1093/hmg/ddw390. Hum Mol Genet. 2016. PMID: 28031288 Free PMC article. No abstract available.
Inherited adrenal hypoplasia: not just for kids!
Lin L, Achermann JC. Lin L, et al. Among authors: achermann jc. Clin Endocrinol (Oxf). 2004 May;60(5):529-37. doi: 10.1111/j.1365-2265.2004.01988.x. Clin Endocrinol (Oxf). 2004. PMID: 15104553 Review. No abstract available.
The adrenal.
Lin L, Achermann JC. Lin L, et al. Among authors: achermann jc. Horm Res. 2004;62 Suppl 3:22-9. doi: 10.1159/000080495. Horm Res. 2004. PMID: 15539795 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. Among authors: achermann jc. 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.
We used to call them hermaphrodites.
Vilain E, Achermann JC, Eugster EA, Harley VR, Morel Y, Wilson JD, Hiort O. Vilain E, et al. Among authors: achermann jc. Genet Med. 2007 Feb;9(2):65-6. doi: 10.1097/gim.0b013e31802cffcf. Genet Med. 2007. PMID: 17304046 Free article. No abstract available.
137 results