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Items: 1 to 50 of 153

1.

Psychosocial Screening in Disorders/Differences of Sex Development: Psychometric Evaluation of the Psychosocial Assessment Tool.

Ernst MM, Gardner M, Mara CA, Délot EC, Fechner PY, Fox M, Rutter MM, Speiser PW, Vilain E, Weidler EM, Sandberg DE; The DSD-Translational Research Network Leadership Group and Psychosocial Workgroup.

Horm Res Paediatr. 2019 Feb 15:1-13. doi: 10.1159/000496114. [Epub ahead of print]

PMID:
30783028
2.

Mutations in STAG2 cause an X-linked cohesinopathy associated with undergrowth, developmental delay, and dysmorphia: Expanding the phenotype in males.

Mullegama SV, Klein SD, Signer RH; UCLA Clinical Genomics Center, Vilain E, Martinez-Agosto JA.

Mol Genet Genomic Med. 2018 Nov 16. doi: 10.1002/mgg3.501. [Epub ahead of print]

3.

Does Patient-centered Care Change Genital Surgery Decisions? The Strategic Use of Clinical Uncertainty in Disorders of Sex Development Clinics.

Timmermans S, Yang A, Gardner M, Keegan CE, Yashar BM, Fechner PY, Shnorhavorian M, Vilain E, Siminoff LA, Sandberg DE.

J Health Soc Behav. 2018 Dec;59(4):520-535. doi: 10.1177/0022146518802460. Epub 2018 Oct 10.

PMID:
30303019
4.

Genetic Link Between Gender Dysphoria and Sex Hormone Signaling.

Foreman M, Hare L, York K, Balakrishnan K, Sánchez FJ, Harte F, Erasmus J, Vilain E, Harley VR.

J Clin Endocrinol Metab. 2019 Feb 1;104(2):390-396. doi: 10.1210/jc.2018-01105.

PMID:
30247609
5.

Pan-Filovirus Serum Neutralizing Antibodies in a Subset of Congolese Ebolavirus Infection Survivors.

Bramble MS, Hoff N, Gilchuk P, Mukadi P, Lu K, Doshi RH, Steffen I, Nicholson BP, Lipson A, Vashist N, Sinai C, Spencer D, Olinger G, Wemakoy EO, Illunga BK, Pettitt J, Logue J, Marchand J, Varughese J, Bennett RS, Jahrling P, Cavet G, Serafini T, Ollmann Saphire E, Vilain E, Muyembe-Tamfum JJ, Hensely LE, Simmons G, Crowe JE Jr, Rimoin AW.

J Infect Dis. 2018 Nov 5;218(12):1929-1936. doi: 10.1093/infdis/jiy453.

6.

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
7.

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.

8.

NR0B1-Related Adrenal Hypoplasia Congenita.

Achermann JC, Vilain EJ.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2001 Nov 20 [updated 2018 Jan 25].

9.

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.

10.

Is it time to retire fragile X testing as a first-tier test for developmental delay, intellectual disability, and autism spectrum disorder?

Mullegama SV, Klein SD, Nguyen DC, Kim A, Signer R, Fox M, Dorrani N, Hendershot A, Mardach R, Suddath R, Dipple K, Vilain E, Wong DA, Deignan JL, D Cederbaum S, Grody WW, Martinez-Agosto JA.

Genet Med. 2017 Dec;19(12). doi: 10.1038/gim.2017.146. Epub 2017 Sep 21. No abstract available.

PMID:
28933790
11.

Emerging issues in disorders/differences of sex development (DSD).

Adam MP, Vilain E.

Am J Med Genet C Semin Med Genet. 2017 Jun;175(2):249-252. doi: 10.1002/ajmg.c.31564. Epub 2017 Jun 3.

PMID:
28577349
12.

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.

Am J Med Genet C Semin Med Genet. 2017 Jun;175(2):268-278. doi: 10.1002/ajmg.c.31558. Epub 2017 May 30.

13.

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.

14.

Genetics of Disorders of Sex Development: The DSD-TRN Experience.

Délot EC, Papp JC; DSD-TRN Genetics Workgroup, Sandberg DE, Vilain E.

Endocrinol Metab Clin North Am. 2017 Jun;46(2):519-537. doi: 10.1016/j.ecl.2017.01.015. Epub 2017 Mar 28. Review.

15.

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.

16.

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.

17.

Effects of chromosomal sex and hormonal influences on shaping sex differences in brain and behavior: Lessons from cases of disorders of sex development.

Bramble MS, Lipson A, Vashist N, Vilain E.

J Neurosci Res. 2017 Jan 2;95(1-2):65-74. doi: 10.1002/jnr.23832. Review.

PMID:
27841933
18.

The unfinished race: 30 years of gender verification in sport.

Martínez-Patiño MJ, Vilain E, Bueno-Guerra N.

Lancet. 2016 Aug 6;388(10044):541-3. doi: 10.1016/S0140-6736(16)30963-1. No abstract available.

PMID:
27511770
19.

Transwomen and the Metabolic Syndrome: Is Orchiectomy Protective?

Nelson MD, Szczepaniak LS, Wei J, Szczepaniak E, Sánchez FJ, Vilain E, Stern JH, Bergman RN, Bairey Merz CN, Clegg DJ.

Transgend Health. 2016 Aug 1;1(1):165-171. doi: 10.1089/trgh.2016.0016. eCollection 2016.

20.

Cigarette smoke alters the ability of human dendritic cells to promote anti-Streptococcus pneumoniae Th17 response.

Le Rouzic O, Koné B, Kluza J, Marchetti P, Hennegrave F, Olivier C, Kervoaze G, Vilain E, Mordacq C, Just N, Perez T, Bautin N, Pichavant M, Gosset P.

Respir Res. 2016 Jul 26;17(1):94. doi: 10.1186/s12931-016-0408-6.

21.

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.

22.

WNT4 mediates the autocrine effects of growth hormone in mammary carcinoma cells.

Vouyovitch CM, Perry JK, Liu DX, Bezin L, Vilain E, Diaz JJ, Lobie PE, Mertani HC.

Endocr Relat Cancer. 2016 Jul;23(7):571-85. doi: 10.1530/ERC-15-0528. Epub 2016 Jun 20.

PMID:
27323961
23.

Sexual Orientation, Controversy, and Science.

Bailey JM, Vasey PL, Diamond LM, Breedlove SM, Vilain E, Epprecht M.

Psychol Sci Public Interest. 2016 Sep;17(2):45-101. doi: 10.1177/1529100616637616. Review. Erratum in: Psychol Sci Public Interest. 2016 Oct;17 (3):192. Psychol Sci Public Interest. 2017 May;18(1):66.

PMID:
27113562
24.

ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.

Ng BG, Shiryaev SA, Rymen D, Eklund EA, Raymond K, Kircher M, Abdenur JE, Alehan F, Midro AT, Bamshad MJ, Barone R, Berry GT, Brumbaugh JE, Buckingham KJ, Clarkson K, Cole FS, O'Connor S, Cooper GM, Van Coster R, Demmer LA, Diogo L, Fay AJ, Ficicioglu C, Fiumara A, Gahl WA, Ganetzky R, Goel H, Harshman LA, He M, Jaeken J, James PM, Katz D, Keldermans L, Kibaek M, Kornberg AJ, Lachlan K, Lam C, Yaplito-Lee J, Nickerson DA, Peters HL, Race V, Régal L, Rush JS, Rutledge SL, Shendure J, Souche E, Sparks SE, Trapane P, Sanchez-Valle A, Vilain E, Vøllo A, Waechter CJ, Wang RY, Wolfe LA, Wong DA, Wood T, Yang AC; University of Washington Center for Mendelian Genomics, Matthijs G, Freeze HH.

Hum Mutat. 2016 Jul;37(7):653-60. doi: 10.1002/humu.22983. Epub 2016 Mar 21.

25.

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.

26.

The importance of having two X chromosomes.

Arnold AP, Reue K, Eghbali M, Vilain E, Chen X, Ghahramani N, Itoh Y, Li J, Link JC, Ngun T, Williams-Burris SM.

Philos Trans R Soc Lond B Biol Sci. 2016 Feb 19;371(1688):20150113. doi: 10.1098/rstb.2015.0113. Epub 2016 Feb 1. Review.

27.

Global Disorders of Sex Development Update since 2006: Perceptions, Approach and Care.

Lee PA, Nordenström A, Houk CP, Ahmed SF, Auchus R, Baratz A, Baratz Dalke K, Liao LM, Lin-Su K, Looijenga LH 3rd, Mazur T, Meyer-Bahlburg HF, Mouriquand P, Quigley CA, Sandberg DE, Vilain E, Witchel S; Global DSD Update Consortium.

Horm Res Paediatr. 2016;85(3):158-80. doi: 10.1159/000442975. Epub 2016 Jan 28. Review. Erratum in: Horm Res Paediatr. 2016;85(3):180. Koopman, Peter [added].

28.

Early Infantile Epileptic Encephalopathy with a de novo variant in ZEB2 identified by exome sequencing.

Babkina N, Deignan JL, Lee H, Vilain E, Sankar R, Giurgea I, Mowat D, Graham JM Jr.

Eur J Med Genet. 2016 Feb;59(2):70-4. doi: 10.1016/j.ejmg.2015.12.006. Epub 2015 Dec 22.

PMID:
26721324
29.

An infant with MLH3 variants, FOXG1-duplication and multiple, benign cranial and spinal tumors: A clinical exome sequencing study.

Kansal R, Li X, Shen J, Samuel D, Laningham F, Lee H, Panigrahi GB, Shuen A, Kantarci S, Dorrani N, Reiss J, Shintaku P, Deignan JL, Strom SP, Pearson CE, Vilain E, Grody WW.

Genes Chromosomes Cancer. 2016 Feb;55(2):131-42. doi: 10.1002/gcc.22319. Epub 2015 Nov 6.

PMID:
26542077
30.

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
31.

DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.

Ji J, Lee H, Argiropoulos B, Dorrani N, Mann J, Martinez-Agosto JA, Gomez-Ospina N, Gallant N, Bernstein JA, Hudgins L, Slattery L, Isidor B, Le Caignec C, David A, Obersztyn E, Wiśniowiecka-Kowalnik B, Fox M, Deignan JL, Vilain E, Hendricks E, Horton Harr M, Noon SE, Jackson JR, Wilkens A, Mirzaa G, Salamon N, Abramson J, Zackai EH, Krantz I, Innes AM, Nelson SF, Grody WW, Quintero-Rivera F.

Eur J Hum Genet. 2015 Nov;23(11):1473-81. doi: 10.1038/ejhg.2015.71. Epub 2015 May 6.

32.

Nonsyndromic 46,XX Testicular Disorders of Sex Development.

Délot EC, Vilain EJ.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2003 Oct 30 [updated 2015 May 7].

33.

Parental Reports of Stigma Associated with Child's Disorder of Sex Development.

Rolston AM, Gardner M, Vilain E, Sandberg DE.

Int J Endocrinol. 2015;2015:980121. doi: 10.1155/2015/980121. Epub 2015 Mar 31.

34.

Mutations in the PCNA-binding site of CDKN1C inhibit cell proliferation by impairing the entry into S phase.

Borges KS, Arboleda VA, Vilain E.

Cell Div. 2015 Mar 28;10:2. doi: 10.1186/s13008-015-0008-8. eCollection 2015.

35.

Acceleration of age-associated methylation patterns in HIV-1-infected adults.

Rickabaugh TM, Baxter RM, Sehl M, Sinsheimer JS, Hultin PM, Hultin LE, Quach A, Martínez-Maza O, Horvath S, Vilain E, Jamieson BD.

PLoS One. 2015 Mar 25;10(3):e0119201. doi: 10.1371/journal.pone.0119201. eCollection 2015.

36.

[STAG3 in premature ovarian failure].

Caburet S, Vilain É.

Med Sci (Paris). 2015 Feb;31(2):129-31. doi: 10.1051/medsci/20153102005. Epub 2015 Mar 4. French. No abstract available.

37.

De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay.

Arboleda VA, Lee H, Dorrani N, Zadeh N, Willis M, Macmurdo CF, Manning MA, Kwan A, Hudgins L, Barthelemy F, Miceli MC, Quintero-Rivera F, Kantarci S, Strom SP, Deignan JL; UCLA Clinical Genomics Center, Grody WW, Vilain E, Nelson SF.

Am J Hum Genet. 2015 Mar 5;96(3):498-506. doi: 10.1016/j.ajhg.2015.01.017. Epub 2015 Feb 26.

38.

Women with hyperandrogenism in elite sports: scientific and ethical rationales for regulating.

Bermon S, Vilain E, Fénichel P, Ritzén M.

J Clin Endocrinol Metab. 2015 Mar;100(3):828-30. doi: 10.1210/jc.2014-3603. Epub 2015 Jan 14.

PMID:
25587809
39.

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.

40.

Clinical exome sequencing for genetic identification of rare Mendelian disorders.

Lee H, Deignan JL, Dorrani N, Strom SP, Kantarci S, Quintero-Rivera F, Das K, Toy T, Harry B, Yourshaw M, Fox M, Fogel BL, Martinez-Agosto JA, Wong DA, Chang VY, Shieh PB, Palmer CG, Dipple KM, Grody WW, Vilain E, Nelson SF.

JAMA. 2014 Nov 12;312(18):1880-7. doi: 10.1001/jama.2014.14604.

41.

On the validity of popular masculinity rating scales with gay men.

Alt M, Lewis AM, Liu WM, Vilain E, Sánchez FJ.

Arch Sex Behav. 2014 Nov;43(8):1547-57. doi: 10.1007/s10508-014-0363-6. Epub 2014 Sep 6.

PMID:
25193131
42.

The biological basis of human sexual orientation: is there a role for epigenetics?

Ngun TC, Vilain E.

Adv Genet. 2014;86:167-84. doi: 10.1016/B978-0-12-800222-3.00008-5. Review.

PMID:
25172350
43.

Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia.

Fogel BL, Lee H, Deignan JL, Strom SP, Kantarci S, Wang X, Quintero-Rivera F, Vilain E, Grody WW, Perlman S, Geschwind DH, Nelson SF.

JAMA Neurol. 2014 Oct;71(10):1237-46. doi: 10.1001/jamaneurol.2014.1944. Erratum in: JAMA Neurol. 2015 Jan;72(1):128.

44.

DSDs: genetics, underlying pathologies and psychosexual differentiation.

Arboleda VA, Sandberg DE, Vilain E.

Nat Rev Endocrinol. 2014 Oct;10(10):603-15. doi: 10.1038/nrendo.2014.130. Epub 2014 Aug 5. Review.

45.

Hurdling over sex? Sport, science, and equity.

Ha NQ, Dworkin SL, Martínez-Patiño MJ, Rogol AD, Rosario V, Sánchez FJ, Wrynn A, Vilain E.

Arch Sex Behav. 2014 Aug;43(6):1035-42. doi: 10.1007/s10508-014-0332-0. Review.

PMID:
25085349
46.

Interpreting whole-genome sequencing.

Grody WW, Vilain E, Nelson SF.

JAMA. 2014 Jul 16;312(3):296. doi: 10.1001/jama.2014.6602. No abstract available.

PMID:
25027151
47.

The effects of perinatal testosterone exposure on the DNA methylome of the mouse brain are late-emerging.

Ghahramani NM, Ngun TC, Chen PY, Tian Y, Krishnan S, Muir S, Rubbi L, Arnold AP, de Vries GJ, Forger NG, Pellegrini M, Vilain E.

Biol Sex Differ. 2014 Jun 13;5:8. doi: 10.1186/2042-6410-5-8. eCollection 2014.

48.

The regulations about eligibility for women with hyperandrogenism to compete in women's category are well founded. A rebuttal to the conclusions by Healy et al.

Ritzén M, Ljungqvist A, Budgett R, Garnier PY, Bermon S, Lindén-Hirschberg A, Vilain E, Martínez-Patiño MJ.

Clin Endocrinol (Oxf). 2015 Feb;82(2):307-8. doi: 10.1111/cen.12531. Epub 2014 Jul 25. No abstract available.

PMID:
24954211
49.

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.

50.

De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing.

Strom SP, Lozano R, Lee H, Dorrani N, Mann J, O'Lague PF, Mans N, Deignan JL, Vilain E, Nelson SF, Grody WW, Quintero-Rivera F.

BMC Med Genet. 2014 May 1;15:49. doi: 10.1186/1471-2350-15-49.

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