Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

227 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Genetic Evidence of the Association of DEAH-Box Helicase 37 Defects With 46,XY Gonadal Dysgenesis Spectrum.
da Silva TE, Gomes NL, Lerário AM, Keegan CE, Nishi MY, Carvalho FM, Vilain E, Barseghyan H, Martinez-Aguayo A, Forclaz MV, Papazian R, Pedroso de Paula LC, Costa EC, Carvalho LR, Jorge AAL, Elias FM, Mitchell R, Costa EMF, Mendonca BB, Domenice S. da Silva TE, et al. Among authors: vilain e. J Clin Endocrinol Metab. 2019 Dec 1;104(12):5923-5934. doi: 10.1210/jc.2019-00984. J Clin Endocrinol Metab. 2019. PMID: 31287541
Regulation of sex determination in mice by a non-coding genomic region.
Arboleda VA, Fleming A, Barseghyan H, Délot E, Sinsheimer JS, Vilain E. Arboleda VA, et al. Among authors: vilain e. Genetics. 2014 Jul;197(3):885-97. doi: 10.1534/genetics.113.160259. Epub 2014 May 2. Genetics. 2014. PMID: 24793290 Free PMC article.
Exome sequencing for the diagnosis of 46,XY disorders of sex development.
Baxter RM, Arboleda VA, Lee H, Barseghyan H, Adam MP, Fechner PY, Bargman R, Keegan C, Travers S, Schelley S, Hudgins L, Mathew RP, Stalker HJ, Zori R, Gordon OK, Ramos-Platt L, Pawlikowska-Haddal A, Eskin A, Nelson SF, Délot E, Vilain E. Baxter RM, et al. Among authors: vilain e. J Clin Endocrinol Metab. 2015 Feb;100(2):E333-44. doi: 10.1210/jc.2014-2605. Epub 2014 Nov 10. J Clin Endocrinol Metab. 2015. PMID: 25383892 Free PMC article.
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: vilain e. Hum Mol Genet. 2016 Aug 15;25(16):3446-3453. doi: 10.1093/hmg/ddw186. Epub 2016 Jul 4. Hum Mol Genet. 2016. PMID: 27378692 Free PMC article.
MAP3K1-related gonadal dysgenesis: Six new cases and review of the literature.
Granados A, Alaniz VI, Mohnach L, Barseghyan H, Vilain E, Ostrer H, Quint EH, Chen M, Keegan CE. Granados A, et al. Among authors: vilain e. Am J Med Genet C Semin Med Genet. 2017 Jun;175(2):253-259. doi: 10.1002/ajmg.c.31559. Epub 2017 May 15. Am J Med Genet C Semin Med Genet. 2017. PMID: 28504475 Free PMC article.
Disorders of sex development (DSD): Clinical service delivery in the United States.
Rolston AM, Gardner M, van Leeuwen K, Mohnach L, Keegan C, Délot E, Vilain E, Sandberg DE; members of the DSD-TRN Advocacy; Advisory Network Accord Alliance. Rolston AM, et al. Among authors: vilain e. Am J Med Genet C Semin Med Genet. 2017 Jun;175(2):268-278. doi: 10.1002/ajmg.c.31558. Epub 2017 May 30. Am J Med Genet C Semin Med Genet. 2017. PMID: 28557237 Free PMC article.
227 results