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Eric J N Vilain

Title(s)Adjunct Professor, Human Genetics
SchoolMedicine
Address695 Charles E. Young Drive, So 6506
Los Angeles CA 90024
Phone3102672455
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    Collapse Research 
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    Disorders/Differences of Sex Development (DSD) - Translational Research Network
    NIH/NICHD R01HD093450Jul 15, 2018 - Mar 31, 2023
    Role: Co-Principal Investigator
    UCLA clinical site for the investigation of undiagnosed disorders
    NIH/NHGRI U01HG007703Jul 1, 2014 - Mar 31, 2018
    Role: Co-Principal Investigator
    Genetic Mechanisms in Klinefelter Syndrome-Related Behaviors
    NIH/NICHD R01HD076125Jun 1, 2014 - May 31, 2019
    Role: Co-Principal Investigator
    Disorders of Sex Development: Platform for Basic and Translational Research
    NIH/NICHD R01HD068138Sep 26, 2011 - Jun 30, 2016
    Role: Principal Investigator
    Role of the Male-Specific Factor Sry in Brain Function
    NIH/NIMH R01MH075046Aug 31, 2007 - Jul 31, 2013
    Role: Principal Investigator
    Gene Dosage in Mammalian Sexual Development
    NIH/NICHD R01HD044513Jul 15, 2003 - Mar 31, 2014
    Role: Principal Investigator
    UCLA Intercampus Medical Genetics Training Program
    NIH/NIGMS T32GM008243Jul 1, 1987 - Jun 30, 2020
    Role: Co-Principal Investigator

    Collapse Bibliographic 
    Collapse Publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help. to make corrections and additions.
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    Altmetrics Details PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Genetic Evidence of the Association of DEAH-Box Helicase 37 Defects With 46,XY Gonadal Dysgenesis Spectrum. J Clin Endocrinol Metab. 2019 12 01; 104(12):5923-5934. 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. PMID: 31287541.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    2. Response to Letter to the Editor: "Genetic Link Between Gender Dysphoria and Sex Hormone Signaling". J Clin Endocrinol Metab. 2019 10 01; 104(10):4420. Foreman M, Vilain E, Harley V. PMID: 30942840.
      View in: PubMed   Mentions:    Fields:    Translation:HumansCells
    3. Sex-specific neuroprotection by inhibition of the Y-chromosome gene, SRY, in experimental Parkinson's disease. Proc Natl Acad Sci U S A. 2019 08 13; 116(33):16577-16582. Lee J, Pinares-Garcia P, Loke H, Ham S, Vilain E, Harley VR. PMID: 31371505.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansAnimalsCells
    4. Genetic Link Between Gender Dysphoria and Sex Hormone Signaling. J Clin Endocrinol Metab. 2019 02 01; 104(2):390-396. Foreman M, Hare L, York K, Balakrishnan K, Sánchez FJ, Harte F, Erasmus J, Vilain E, Harley VR. PMID: 30247609.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    5. Pan-Filovirus Serum Neutralizing Antibodies in a Subset of Congolese Ebolavirus Infection Survivors. J Infect Dis. 2018 11 05; 218(12):1929-1936. 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, Rimoin AW. PMID: 30107445.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    6. Identification of novel candidate genes for 46,XY disorders of sex development (DSD) using a C57BL/6J-Y POS mouse model. Biol Sex Differ. 2018 01 30; 9(1):8. 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. PMID: 29378665.
      View in: PubMed   Mentions: 2     Fields:    Translation:Animals
    7. Next-generation mapping: a novel approach for detection of pathogenic structural variants with a potential utility in clinical diagnosis. Genome Med. 2017 10 25; 9(1):90. Barseghyan H, Tang W, Wang RT, Almalvez M, Segura E, Bramble MS, Lipson A, Douine ED, Lee H, Délot EC, Nelson SF, Vilain E. PMID: 29070057.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    8. Is it time to retire fragile X testing as a first-tier test for developmental delay, intellectual disability, and autism spectrum disorder? Genet Med. 2017 12; 19(12). 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. PMID: 28933790.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    9. Disorders of sex development (DSD): Clinical service delivery in the United States. Am J Med Genet C Semin Med Genet. 2017 06; 175(2):268-278. Rolston AM, Gardner M, van Leeuwen K, Mohnach L, Keegan C, Délot E, Vilain E, Sandberg DE. PMID: 28557237.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    10. Genetics of Disorders of Sex Development: The DSD-TRN Experience. Endocrinol Metab Clin North Am. 2017 06; 46(2):519-537. Délot EC, Papp JC, Sandberg DE, Vilain E. PMID: 28476235.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    11. Effects of chromosomal sex and hormonal influences on shaping sex differences in brain and behavior: Lessons from cases of disorders of sex development. J Neurosci Res. 2017 01 02; 95(1-2):65-74. Bramble MS, Lipson A, Vashist N, Vilain E. PMID: 27841933.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansCells
    12. A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development. Hum Mol Genet. 2016 12 01; 25(23):5286. 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, Dumargne MC, Eozenou C, Suntharalingham JP, de Silva K, Lin L, Bignon-Topalovic J, Poulat F, Lagos CF, McElreavey K, Achermann JC. PMID: 28031288.
      View in: PubMed   Mentions: 2     Fields:    
    13. Sex-Specific Effects of Testosterone on the Sexually Dimorphic Transcriptome and Epigenome of Embryonic Neural Stem/Progenitor Cells. Sci Rep. 2016 11 15; 6:36916. Bramble MS, Roach L, Lipson A, Vashist N, Eskin A, Ngun T, Gosschalk JE, Klein S, Barseghyan H, Arboleda VA, Vilain E. PMID: 27845378.
      View in: PubMed   Mentions: 7     Fields:    Translation:AnimalsCells
    14. A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development. Hum Mol Genet. 2016 08 15; 25(16):3446-3453. 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, Dumargne MC, Eozenou C, Suntharalingham JP, de Silva K, Lin L, Bignon-Topalovic J, Poulat F, Lagos CF, McElreavey K, Achermann JC. PMID: 27378692.
      View in: PubMed   Mentions: 13     Fields:    Translation:Humans
    15. A novel follicle-stimulating hormone receptor mutation causing primary ovarian failure: a fertility application of whole exome sequencing. Hum Reprod. 2016 Apr; 31(4):905-14. 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. PMID: 26911863.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansCells
    16. The importance of having two X chromosomes. Philos Trans R Soc Lond B Biol Sci. 2016 Feb 19; 371(1688):20150113. Arnold AP, Reue K, Eghbali M, Vilain E, Chen X, Ghahramani N, Itoh Y, Li J, Link JC, Ngun T, Williams-Burris SM. PMID: 26833834.
      View in: PubMed   Mentions: 25     Fields:    Translation:AnimalsCells
    17. Early Infantile Epileptic Encephalopathy with a de novo variant in ZEB2 identified by exome sequencing. Eur J Med Genet. 2016 Feb; 59(2):70-4. Babkina N, Deignan JL, Lee H, Vilain E, Sankar R, Giurgea I, Mowat D, Graham JM. PMID: 26721324.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    18. An infant with MLH3 variants, FOXG1-duplication and multiple, benign cranial and spinal tumors: A clinical exome sequencing study. Genes Chromosomes Cancer. 2016 Feb; 55(2):131-42. 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. PMID: 26542077.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    19. DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies. Eur J Hum Genet. 2015 Nov; 23(11):1473-81. 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, Wisniowiecka-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. PMID: 25944381.
      View in: PubMed   Mentions: 19     Fields:    Translation:Humans
    20. Mutations in the PCNA-binding site of CDKN1C inhibit cell proliferation by impairing the entry into S phase. Cell Div. 2015; 10:2. Borges KS, Arboleda VA, Vilain E. PMID: 25861374.
      View in: PubMed   Mentions:
    21. Acceleration of age-associated methylation patterns in HIV-1-infected adults. PLoS One. 2015; 10(3):e0119201. Rickabaugh TM, Baxter RM, Sehl M, Sinsheimer JS, Hultin PM, Hultin LE, Quach A, Martínez-Maza O, Horvath S, Vilain E, Jamieson BD. PMID: 25807146.
      View in: PubMed   Mentions: 29     Fields:    Translation:HumansCells
    22. De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay. Am J Hum Genet. 2015 Mar 05; 96(3):498-506. 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, Grody WW, Vilain E, Nelson SF. PMID: 25728775.
      View in: PubMed   Mentions: 21     Fields:    Translation:HumansCells
    23. Women with hyperandrogenism in elite sports: scientific and ethical rationales for regulating. J Clin Endocrinol Metab. 2015 Mar; 100(3):828-30. Bermon S, Vilain E, Fénichel P, Ritzén M. PMID: 25587809.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    24. Clinical exome sequencing for genetic identification of rare Mendelian disorders. JAMA. 2014 Nov 12; 312(18):1880-7. 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. PMID: 25326637.
      View in: PubMed   Mentions: 223     Fields:    Translation:Humans
    25. Exome sequencing for the diagnosis of 46,XY disorders of sex development. J Clin Endocrinol Metab. 2015 Feb; 100(2):E333-44. 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. PMID: 25383892.
      View in: PubMed   Mentions: 29     Fields:    Translation:Humans
    26. Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia. JAMA Neurol. 2014 Oct; 71(10):1237-46. 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. PMID: 25133958.
      View in: PubMed   Mentions: 62     Fields:    Translation:Humans
    27. DSDs: genetics, underlying pathologies and psychosexual differentiation. Nat Rev Endocrinol. 2014 Oct; 10(10):603-15. Arboleda VA, Sandberg DE, Vilain E. PMID: 25091731.
      View in: PubMed   Mentions: 18     Fields:    Translation:HumansAnimals
    28. Hurdling over sex? Sport, science, and equity. Arch Sex Behav. 2014 Aug; 43(6):1035-42. Ha NQ, Dworkin SL, Martínez-Patiño MJ, Rogol AD, Rosario V, Sánchez FJ, Wrynn A, Vilain E. PMID: 25085349.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    29. Interpreting whole-genome sequencing. JAMA. 2014 Jul 16; 312(3):296. Grody WW, Vilain E, Nelson SF. PMID: 25027151.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    30. The effects of perinatal testosterone exposure on the DNA methylome of the mouse brain are late-emerging. Biol Sex Differ. 2014; 5:8. 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. PMID: 24976947.
      View in: PubMed   Mentions: 33     Fields:    
    31. Regulation of sex determination in mice by a non-coding genomic region. Genetics. 2014 Jul; 197(3):885-97. Arboleda VA, Fleming A, Barseghyan H, Délot E, Sinsheimer JS, Vilain E. PMID: 24793290.
      View in: PubMed   Mentions: 3     Fields:    Translation:AnimalsCells
    32. Mutant cohesin in premature ovarian failure. N Engl J Med. 2014 Mar 06; 370(10):943-949. Caburet S, Arboleda VA, Llano E, Overbeek PA, Barbero JL, Oka K, Harrison W, Vaiman D, Ben-Neriah Z, García-Tuñón I, Fellous M, Pendás AM, Veitia RA, Vilain E. PMID: 24597867.
      View in: PubMed   Mentions: 46     Fields:    Translation:HumansAnimals
    33. The genetics of disorders of sex development in humans. Sex Dev. 2014; 8(5):262-72. Ohnesorg T, Vilain E, Sinclair AH. PMID: 24504012.
      View in: PubMed   Mentions: 8     Fields:    Translation:HumansCells
    34. De novo single exon deletion of AUTS2 in a patient with speech and language disorder: a review of disrupted AUTS2 and further evidence for its role in neurodevelopmental disorders. Am J Med Genet A. 2014 Apr; 164A(4):958-65. Amarillo IE, Li WL, Li X, Vilain E, Kantarci S. PMID: 24459036.
      View in: PubMed   Mentions: 8     Fields:    Translation:Humans
    35. Assessing the necessity of confirmatory testing for exome-sequencing results in a clinical molecular diagnostic laboratory. Genet Med. 2014 Jul; 16(7):510-5. Strom SP, Lee H, Das K, Vilain E, Nelson SF, Grody WW, Deignan JL. PMID: 24406459.
      View in: PubMed   Mentions: 36     Fields:    Translation:Humans
    36. The biological basis of human sexual orientation: is there a role for epigenetics? Adv Genet. 2014; 86:167-84. Ngun TC, Vilain E. PMID: 25172350.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansAnimals
    37. The Sex Chromosome Trisomy mouse model of XXY and XYY: metabolism and motor performance. Biol Sex Differ. 2013 Aug 08; 4(1):15. Chen X, Williams-Burris SM, McClusky R, Ngun TC, Ghahramani N, Barseghyan H, Reue K, Vilain E, Arnold AP. PMID: 23926958.
      View in: PubMed   Mentions: 9     Fields:    
    38. Translational genetics for diagnosis of human disorders of sex development. Annu Rev Genomics Hum Genet. 2013; 14:371-92. Baxter RM, Vilain E. PMID: 23875799.
      View in: PubMed   Mentions: 11     Fields:    Translation:HumansAnimals
    39. Membrane ß-catenin and adherens junctions in early gonadal patterning. Dev Dyn. 2012 Nov; 241(11):1782-98. Fleming A, Ghahramani N, Zhu MX, Délot EC, Vilain E. PMID: 22972715.
      View in: PubMed   Mentions: 4     Fields:    Translation:AnimalsCells
    40. The relationship between help-seeking attitudes and masculine norms among monozygotic male twins discordant for sexual orientation. Health Psychol. 2013 Jan; 32(1):52-6. Sánchez FJ, Bocklandt S, Vilain E. PMID: 23025300.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    41. Increased Cortical Thickness in Male-to-Female Transsexualism. J Behav Brain Sci. 2012 Aug; 2(3):357-362. Luders E, Sánchez FJ, Tosun D, Shattuck DW, Gaser C, Vilain E, Toga AW. PMID: 23724358.
      View in: PubMed   Mentions:
    42. The human testis-determining factor SRY localizes in midbrain dopamine neurons and regulates multiple components of catecholamine synthesis and metabolism. J Neurochem. 2012 Jul; 122(2):260-71. Czech DP, Lee J, Sim H, Parish CL, Vilain E, Harley VR. PMID: 22568433.
      View in: PubMed   Mentions: 24     Fields:    Translation:HumansCells
    43. Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome. Nat Genet. 2012 May 27; 44(7):788-92. Arboleda VA, Lee H, Parnaik R, Fleming A, Banerjee A, Ferraz-de-Souza B, Délot EC, Rodriguez-Fernandez IA, Braslavsky D, Bergadá I, Dell'Angelica EC, Nelson SF, Martinez-Agosto JA, Achermann JC, Vilain E. PMID: 22634751.
      View in: PubMed   Mentions: 50     Fields:    Translation:HumansAnimalsCells
    44. "Straight-acting gays": the relationship between masculine consciousness, anti-effeminacy, and negative gay identity. Arch Sex Behav. 2012 Feb; 41(1):111-9. Sánchez FJ, Vilain E. PMID: 22323055.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    45. The evolution of the search for novel genes in mammalian sex determination: from mice to men. Mol Genet Metab. 2011 Sep-Oct; 104(1-2):67-71. Arboleda VA, Vilain E. PMID: 21795084.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansAnimals
    46. Epigenetic predictor of age. PLoS One. 2011; 6(6):e14821. Bocklandt S, Lin W, Sehl ME, Sánchez FJ, Sinsheimer JS, Horvath S, Vilain E. PMID: 21731603.
      View in: PubMed   Mentions: 178     Fields:    Translation:HumansCells
    47. Copy number variation in patients with disorders of sex development due to 46,XY gonadal dysgenesis. PLoS One. 2011 Mar 07; 6(3):e17793. White S, Ohnesorg T, Notini A, Roeszler K, Hewitt J, Daggag H, Smith C, Turbitt E, Gustin S, van den Bergen J, Miles D, Western P, Arboleda V, Schumacher V, Gordon L, Bell K, Bengtsson H, Speed T, Hutson J, Warne G, Harley V, Koopman P, Vilain E, Sinclair A. PMID: 21408189.
      View in: PubMed   Mentions: 33     Fields:    Translation:HumansAnimalsCells
    48. The genetics of ovotesticular disorders of sex development. Adv Exp Med Biol. 2011; 707:105-6. Vilain E. PMID: 21691964.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    49. Identification of SOX3 as an XX male sex reversal gene in mice and humans. J Clin Invest. 2011 Jan; 121(1):328-41. Sutton E, Hughes J, White S, Sekido R, Tan J, Arboleda V, Rogers N, Knower K, Rowley L, Eyre H, Rizzoti K, McAninch D, Goncalves J, Slee J, Turbitt E, Bruno D, Bengtsson H, Harley V, Vilain E, Sinclair A, Lovell-Badge R, Thomas P. PMID: 21183788.
      View in: PubMed   Mentions: 48     Fields:    Translation:HumansAnimalsCells
    50. Genes and brain sex differences. Prog Brain Res. 2010; 186:65-76. Sánchez FJ, Vilain E. PMID: 21094886.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansAnimalsCells
    51. Targeted disruption of Sonic Hedgehog in the mouse adrenal leads to adrenocortical hypoplasia. Genesis. 2009 Sep; 47(9):628-37. Ching S, Vilain E. PMID: 19536807.
      View in: PubMed   Mentions: 30     Fields:    Translation:AnimalsCells
    52. Gender Role Conflict, Interest in Casual Sex, and Relationship Satisfaction Among Gay Men. Psychol Men Masc. 2009 Jul 01; 10(3):237-243. Sanchez FJ, Bocklandt S, Vilain E. PMID: 20721305.
      View in: PubMed   Mentions:
    53. Regional gray matter variation in male-to-female transsexualism. Neuroimage. 2009 Jul 15; 46(4):904-7. Luders E, Sánchez FJ, Gaser C, Toga AW, Narr KL, Hamilton LS, Vilain E. PMID: 19341803.
      View in: PubMed   Mentions: 23     Fields:    Translation:Humans
    54. Reported Effects of Masculine Ideals on Gay Men. Psychol Men Masc. 2009 Jan; 10(1):73-87. Sánchez FJ, Greenberg ST, Liu WM, Vilain E. PMID: 20628534.
      View in: PubMed   Mentions:
    55. Androgen receptor repeat length polymorphism associated with male-to-female transsexualism. Biol Psychiatry. 2009 Jan 01; 65(1):93-6. Hare L, Bernard P, Sánchez FJ, Baird PN, Vilain E, Kennedy T, Harley VR. PMID: 18962445.
      View in: PubMed   Mentions: 22     Fields:    Translation:HumansCells
    56. Human SRY inhibits beta-catenin-mediated transcription. Int J Biochem Cell Biol. 2008; 40(12):2889-900. Bernard P, Sim H, Knower K, Vilain E, Harley V. PMID: 18598779.
      View in: PubMed   Mentions: 16     Fields:    Translation:HumansCells
    57. The chromosome 11 region from strain 129 provides protection from sex reversal in XYPOS mice. Genetics. 2008 May; 179(1):419-27. Nikolova G, Sinsheimer JS, Eicher EM, Vilain E. PMID: 18458101.
      View in: PubMed   Mentions: 7     Fields:    Translation:AnimalsCells
    58. Wnt4 inhibits beta-catenin/TCF signalling by redirecting beta-catenin to the cell membrane. Biol Cell. 2008 Mar; 100(3):167-77. Bernard P, Fleming A, Lacombe A, Harley VR, Vilain E. PMID: 17976036.
      View in: PubMed   Mentions: 40     Fields:    Translation:HumansAnimalsCells
    59. We used to call them hermaphrodites. Genet Med. 2007 Feb; 9(2):65-6. Vilain E, Achermann JC, Eugster EA, Harley VR, Morel Y, Wilson JD, Hiort O. PMID: 17304046.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
    60. Sex differences in brain and behavior: hormones versus genes. Adv Genet. 2007; 59:245-66. Bocklandt S, Vilain E. PMID: 17888801.
      View in: PubMed   Mentions: 13     Fields:    Translation:HumansAnimals
    61. Disruption of POF1B binding to nonmuscle actin filaments is associated with premature ovarian failure. Am J Hum Genet. 2006 Jul; 79(1):113-9. Lacombe A, Lee H, Zahed L, Choucair M, Muller JM, Nelson SF, Salameh W, Vilain E. PMID: 16773570.
      View in: PubMed   Mentions: 20     Fields:    Translation:HumansCells
    62. Mechanisms of disease: Transcription factors in sex determination--relevance to human disorders of sex development. Nat Clin Pract Endocrinol Metab. 2006 Apr; 2(4):231-8. Nikolova G, Vilain E. PMID: 16932288.
      View in: PubMed   Mentions: 5     Fields:    Translation:HumansAnimalsCells
    63. IMAGe association and congenital adrenal hypoplasia: no disease-causing mutations found in the ACD gene. Mol Genet Metab. 2006 May; 88(1):66-70. Hutz JE, Krause AS, Achermann JC, Vilain E, Tauber M, Lecointre C, McCabe ER, Hammer GD, Keegan CE. PMID: 16504561.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansAnimals
    64. Direct regulation of adult brain function by the male-specific factor SRY. Curr Biol. 2006 Feb 21; 16(4):415-20. Dewing P, Chiang CW, Sinchak K, Sim H, Fernagut PO, Kelly S, Chesselet MF, Micevych PE, Albrecht KH, Harley VR, Vilain E. PMID: 16488877.
      View in: PubMed   Mentions: 105     Fields:    Translation:AnimalsCells
    65. A familial missense mutation in the hinge region of DAX1 associated with late-onset AHC in a prepubertal female. Mol Genet Metab. 2006 Jul; 88(3):272-9. Bernard P, Ludbrook L, Queipo G, Dinulos MB, Kletter GB, Zhang YH, Phelan JK, McCabe ER, Harley VR, Vilain E. PMID: 16459121.
      View in: PubMed   Mentions: 5     Fields:    Translation:HumansAnimalsCells
    66. Extreme skewing of X chromosome inactivation in mothers of homosexual men. Hum Genet. 2006 Feb; 118(6):691-4. Bocklandt S, Horvath S, Vilain E, Hamer DH. PMID: 16369763.
      View in: PubMed   Mentions: 7     Fields:    Translation:HumansCells
    67. Familial transmission of genitovaginal prolapse. Int Urogynecol J Pelvic Floor Dysfunct. 2006 Sep; 17(5):498-501. Jack GS, Nikolova G, Vilain E, Raz S, Rodríguez LV. PMID: 16365693.
      View in: PubMed   Mentions: 27     Fields:    Translation:Humans
    68. Sexually dimorphic gene expression in mouse brain precedes gonadal differentiation. Brain Res Mol Brain Res. 2003 Oct 21; 118(1-2):82-90. Dewing P, Shi T, Horvath S, Vilain E. PMID: 14559357.
      View in: PubMed   Mentions: 79     Fields:    Translation:Animals
    69. Wnt4 overexpression disrupts normal testicular vasculature and inhibits testosterone synthesis by repressing steroidogenic factor 1/beta-catenin synergy. Proc Natl Acad Sci U S A. 2003 Sep 16; 100(19):10866-71. Jordan BK, Shen JH, Olaso R, Ingraham HA, Vilain E. PMID: 12949260.
      View in: PubMed   Mentions: 48     Fields:    Translation:HumansCells
    70. Dimerization of SOX9 is required for chondrogenesis, but not for sex determination. Hum Mol Genet. 2003 Jul 15; 12(14):1755-65. Bernard P, Tang P, Liu S, Dewing P, Harley VR, Vilain E. PMID: 12837698.
      View in: PubMed   Mentions: 54     Fields:    Translation:HumansCells
    71. Carnitine membrane transporter deficiency: a long-term follow up and OCTN2 mutation in the first documented case of primary carnitine deficiency. Mol Genet Metab. 2002 Nov; 77(3):195-201. Cederbaum SD, Koo-McCoy S, Tein I, Hsu BY, Ganguly A, Vilain E, Dipple K, Cvitanovic-Sojat L, Stanley C. PMID: 12409266.
      View in: PubMed   Mentions: 19     Fields:    Translation:HumansCells
    72. Disorders of gonadal development. Semin Reprod Med. 2002 Aug; 20(3):189-98. Dewing P, Bernard P, Vilain E. PMID: 12428199.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    73. Familial mutation in the testis-determining gene SRY shared by an XY female and her normal father. J Clin Endocrinol Metab. 2002 Jul; 87(7):3428-32. Jordan BK, Jain M, Natarajan S, Frasier SD, Vilain E. PMID: 12107262.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansCells
    74. Anomalies of human sexual development: clinical aspects and genetic analysis. Novartis Found Symp. 2002; 244:43-53; discussion 53-6, 79-85, 253-7. Vilain E. PMID: 11990797.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansCells
    75. Sry and the genetics of sex determination. Adv Exp Med Biol. 2002; 511:1-13; discussion 13-4. Jordan BK, Vilain E. PMID: 12575752.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansAnimalsCells
    76. Genetics of sexual development. Annu Rev Sex Res. 2000; 11:1-25. Vilain E. PMID: 11351829.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    77. IMAGe, a new clinical association of intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies. J Clin Endocrinol Metab. 1999 Dec; 84(12):4335-40. Vilain E, Le Merrer M, Lecointre C, Desangles F, Kay MA, Maroteaux P, McCabe ER. PMID: 10599684.
      View in: PubMed   Mentions: 18     Fields:    Translation:Humans
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