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Items: 15

1.

Translating genomics to the clinical diagnosis of disorders/differences of sex development.

Parivesh A, Barseghyan H, Délot E, Vilain E.

Curr Top Dev Biol. 2019;134:317-375. doi: 10.1016/bs.ctdb.2019.01.005. Epub 2019 Mar 20.

PMID:
30999980
2.

Long-read single-molecule maps of the functional methylome.

Sharim H, Grunwald A, Gabrieli T, Michaeli Y, Margalit S, Torchinsky D, Arielly R, Nifker G, Juhasz M, Gularek F, Almalvez M, Dufault B, Chandra SS, Liu A, Bhattacharya S, Chen YW, Vilain E, Wagner KR, Pevsner J, Reifenberger J, Lam ET, Hastie AR, Cao H, Barseghyan H, Weinhold E, Ebenstein Y.

Genome Res. 2019 Apr;29(4):646-656. doi: 10.1101/gr.240739.118. Epub 2019 Mar 7.

3.

New technologies to uncover the molecular basis of disorders of sex development.

Barseghyan H, Délot EC, Vilain E.

Mol Cell Endocrinol. 2018 Jun 15;468:60-69. doi: 10.1016/j.mce.2018.04.003. Epub 2018 Apr 13. Review.

PMID:
29655603
4.

Identification of novel candidate genes for 46,XY disorders of sex development (DSD) using a C57BL/6J-Y POS mouse model.

Barseghyan H, Symon A, Zadikyan M, Almalvez M, Segura EE, Eskin A, Bramble MS, Arboleda VA, Baxter R, Nelson SF, Délot EC, Harley V, Vilain E.

Biol Sex Differ. 2018 Jan 30;9(1):8. doi: 10.1186/s13293-018-0167-9.

5.

Next-generation mapping: a novel approach for detection of pathogenic structural variants with a potential utility in clinical diagnosis.

Barseghyan H, Tang W, Wang RT, Almalvez M, Segura E, Bramble MS, Lipson A, Douine ED, Lee H, Délot EC, Nelson SF, Vilain E.

Genome Med. 2017 Oct 25;9(1):90. doi: 10.1186/s13073-017-0479-0.

6.

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.

Am J Med Genet C Semin Med Genet. 2017 Jun;175(2):253-259. doi: 10.1002/ajmg.c.31559. Epub 2017 May 15.

7.

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.

Hum Mol Genet. 2016 Dec 1;25(23):5286. doi: 10.1093/hmg/ddw390. No abstract available.

8.

Sex-Specific Effects of Testosterone on the Sexually Dimorphic Transcriptome and Epigenome of Embryonic Neural Stem/Progenitor Cells.

Bramble MS, Roach L, Lipson A, Vashist N, Eskin A, Ngun T, Gosschalk JE, Klein S, Barseghyan H, Arboleda VA, Vilain E.

Sci Rep. 2016 Nov 15;6:36916. doi: 10.1038/srep36916.

9.

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.

Hum Mol Genet. 2016 Aug 15;25(16):3446-3453. doi: 10.1093/hmg/ddw186. Epub 2016 Jul 4. Erratum in: Hum Mol Genet. 2016 Dec 1;25(23 ):5286.

10.

A novel follicle-stimulating hormone receptor mutation causing primary ovarian failure: a fertility application of whole exome sequencing.

Bramble MS, Goldstein EH, Lipson A, Ngun T, Eskin A, Gosschalk JE, Roach L, Vashist N, Barseghyan H, Lee E, Arboleda VA, Vaiman D, Yuksel Z, Fellous M, Vilain E.

Hum Reprod. 2016 Apr;31(4):905-14. doi: 10.1093/humrep/dew025. Epub 2016 Feb 23.

11.

New genomic technologies: an aid for diagnosis of disorders of sex development.

Barseghyan H, Délot E, Vilain E.

Horm Metab Res. 2015 May;47(5):312-20. doi: 10.1055/s-0035-1548831. Epub 2015 May 13. Review.

PMID:
25970709
12.

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.

J Clin Endocrinol Metab. 2015 Feb;100(2):E333-44. doi: 10.1210/jc.2014-2605. Epub 2014 Nov 10.

13.

Feminized behavior and brain gene expression in a novel mouse model of Klinefelter Syndrome.

Ngun TC, Ghahramani NM, Creek MM, Williams-Burris SM, Barseghyan H, Itoh Y, Sánchez FJ, McClusky R, Sinsheimer JS, Arnold AP, Vilain E.

Arch Sex Behav. 2014 Aug;43(6):1043-57. doi: 10.1007/s10508-014-0316-0. Epub 2014 Jun 13.

14.

Regulation of sex determination in mice by a non-coding genomic region.

Arboleda VA, Fleming A, Barseghyan H, Délot E, Sinsheimer JS, Vilain E.

Genetics. 2014 Jul;197(3):885-97. doi: 10.1534/genetics.113.160259. Epub 2014 May 2.

15.

The Sex Chromosome Trisomy mouse model of XXY and XYY: metabolism and motor performance.

Chen X, Williams-Burris SM, McClusky R, Ngun TC, Ghahramani N, Barseghyan H, Reue K, Vilain E, Arnold AP.

Biol Sex Differ. 2013 Aug 8;4(1):15. doi: 10.1186/2042-6410-4-15.

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