| Year |
Citation |
Score |
| 2019 |
Lee S, Kambhampati M, Almira-Suarez MI, Ho CY, Panditharatna E, Berger SI, Turner J, Van Mater D, Kilburn L, Packer RJ, Myseros JS, Vilain E, Nazarian J, Bornhorst M. Somatic Mosaicism of IDH1 R132H Predisposes to Anaplastic Astrocytoma: A Case of Two Siblings. Frontiers in Oncology. 9: 1507. PMID 32010615 DOI: 10.3389/Fonc.2019.01507 |
0.3 |
|
| 2019 |
Hughes JJ, Alkhunaizi E, Kruszka P, Pyle LC, Grange DK, Berger SI, Payne KK, Masser-Frye D, Hu T, Christie MR, Clegg NJ, Everson JL, Martinez AF, Walsh LE, Bedoukian E, ... ... Vilain E, et al. Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations. American Journal of Human Genetics. PMID 31883643 DOI: 10.1016/J.Ajhg.2019.12.004 |
0.418 |
|
| 2019 |
Lee J, Pinares-Garcia P, Loke H, Ham S, Vilain E, Harley VR. Sex-specific neuroprotection by inhibition of the Y-chromosome gene, , in experimental Parkinson's disease. Proceedings of the National Academy of Sciences of the United States of America. PMID 31371505 DOI: 10.1073/Pnas.1900406116 |
0.355 |
|
| 2019 |
Evilen da Silva T, Gomes NL, Lerário AM, Keegan CE, Nishi MY, Carvalho FM, Vilain E, Barseghyanm H, Martinez-Aguayo A, Forclaz MV, Papazian R, Pedroso de Paula LC, Costa EC, Carvalho LR, Jorge AA, et al. Genetic evidence of the association of DEAH-box helicase 37 defects with 46,XY gonadal dysgenesis spectrum. The Journal of Clinical Endocrinology and Metabolism. PMID 31287541 DOI: 10.1210/Jc.2019-00984 |
0.336 |
|
| 2019 |
Byers ES, Mustanski B, Semenyna S, Suschinsky KD, Vilain E. The Role of Sex Research Organizations in Eliminating Sexual Harassment. Archives of Sexual Behavior. PMID 31263992 DOI: 10.1007/S10508-019-01505-Z |
0.325 |
|
| 2019 |
Timmermans S, Yang A, Gardner M, Keegan CE, Yashar BM, Fechner PY, Schnorhavorian M, Vilain E, Siminoff LA, Sandberg DE. Gender destinies: assigning gender in Disorders of Sex Development-Intersex clinics. Sociology of Health & Illness. PMID 31225650 DOI: 10.1111/1467-9566.12974 |
0.346 |
|
| 2019 |
Bramble MS, Vashist N, Vilain E. Sex steroid hormone modulation of neural stem cells: a critical review. Biology of Sex Differences. 10: 28. PMID 31146782 DOI: 10.1186/S13293-019-0242-X |
0.414 |
|
| 2019 |
Foreman M, Vilain E, Harley V. Response to Letter to the Editor: "Genetic Link Between Gender Dysphoria and Sex Hormone Signalling". The Journal of Clinical Endocrinology and Metabolism. PMID 30942840 DOI: 10.1210/Jc.2019-00701 |
0.366 |
|
| 2019 |
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, ... ... Vilain E, et al. Long-read single-molecule maps of the functional methylome. Genome Research. PMID 30846530 DOI: 10.1101/Gr.240739.118 |
0.307 |
|
| 2019 |
Ng BG, Sosicka P, Agadi S, Almannai M, Bacino CA, Barone R, Botto LD, Burton JE, Carlston C, Chung BH, Cohen JS, Coman D, Dipple KM, Dorrani N, Dobyns WB, ... ... Vilain E, et al. SLC35A2-CDG: Functional Characterization, Expanded Molecular, Clinical, and Biochemical Phenotypes of 30 Unreported Individuals. Human Mutation. PMID 30817854 DOI: 10.1002/Humu.23731 |
0.326 |
|
| 2019 |
Ernst MM, Gardner M, Mara CA, Délot EC, Fechner PY, Fox M, Rutter MM, Speiser PW, Vilain E, Weidler EM, Sandberg DE. Psychosocial Screening in Disorders/Differences of Sex Development: Psychometric Evaluation of the Psychosocial Assessment Tool. Hormone Research in Paediatrics. 1-13. PMID 30783028 DOI: 10.1159/000496114 |
0.305 |
|
| 2019 |
Speiser P, Chawla R, Chen M, Delot E, Thomas A, Finlayson C, Hollander A, Lowell M, Rutter M, Sandberg D, Shimy K, Vilain E. SAT-LB050 Congenital Adrenal Hyperplasia Newborn Screening Protocols Differ Widely in the US: A Survey by the Differences/Disorders of Sex Development Translational Research Network (DSD-TRN) Journal of the Endocrine Society. 3. DOI: 10.1210/Js.2019-Sat-Lb050 |
0.306 |
|
| 2018 |
Mullegama SV, Klein SD, Signer RH, Vilain E, Martinez-Agosto JA. Mutations in STAG2 cause an X-linked cohesinopathy associated with undergrowth, developmental delay, and dysmorphia: Expanding the phenotype in males. Molecular Genetics & Genomic Medicine. PMID 30447054 DOI: 10.1002/Mgg3.501 |
0.411 |
|
| 2018 |
Foreman M, Hare L, York K, Balakrishnan K, Sánchez FJ, Harte F, Erasmus J, Vilain E, Harley VR. A genetic link between gender dysphoria and sex hormone signalling. The Journal of Clinical Endocrinology and Metabolism. PMID 30247609 DOI: 10.1210/Jc.2018-01105 |
0.364 |
|
| 2018 |
Barseghyan H, Délot EC, Vilain E. New technologies to uncover the molecular basis of disorders of sex development. Molecular and Cellular Endocrinology. PMID 29655603 DOI: 10.1016/J.Mce.2018.04.003 |
0.435 |
|
| 2018 |
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. Identification of novel candidate genes for 46,XY disorders of sex development (DSD) using a C57BL/6J-Y POS mouse model. Biology of Sex Differences. 9: 8. PMID 29378665 DOI: 10.1186/S13293-018-0167-9 |
0.716 |
|
| 2017 |
Adam MP, Vilain E. Emerging issues in disorders/differences of sex development (DSD). American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. PMID 28577349 DOI: 10.1002/Ajmg.C.31564 |
0.365 |
|
| 2017 |
Granados A, Alaniz VI, Mohnach L, Barseghyan H, Vilain E, Ostrer H, Quint EH, Chen M, Keegan CE. MAP3K1-related gonadal dysgenesis: Six new cases and review of the literature. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. PMID 28504475 DOI: 10.1002/Ajmg.C.31559 |
0.464 |
|
| 2017 |
Délot EC, Papp JC, Sandberg DE, Vilain E. Genetics of Disorders of Sex Development: The DSD-TRN Experience. Endocrinology and Metabolism Clinics of North America. 46: 519-537. PMID 28476235 DOI: 10.1016/J.Ecl.2017.01.015 |
0.319 |
|
| 2017 |
Bramble MS, Lipson A, Vashist N, Vilain E. Effects of chromosomal sex and hormonal influences on shaping sex differences in brain and behavior: Lessons from cases of disorders of sex development. Journal of Neuroscience Research. 95: 65-74. PMID 27841933 DOI: 10.1002/Jnr.23832 |
0.471 |
|
| 2016 |
Bramble MS, Roach L, Lipson A, Vashist N, Eskin A, Ngun T, Gosschalk JE, Klein S, Barseghyan H, Arboleda VA, Vilain E. Sex-Specific Effects of Testosterone on the Sexually Dimorphic Transcriptome and Epigenome of Embryonic Neural Stem/Progenitor Cells. Scientific Reports. 6: 36916. PMID 27845378 DOI: 10.1038/Srep36916 |
0.806 |
|
| 2016 |
Bashamboo A, Donohoue PA, Vilain E, Rojo S, Calvel P, Seneviratne SN, Buonocore F, Barseghyan H, Bingham N, Rosenfeld JA, Mulukulta SN, Jain M, Burrage L, Dhar S, Balasubramanyam A, et al. A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development. Human Molecular Genetics. PMID 27378692 DOI: 10.1093/Hmg/Ddw186 |
0.438 |
|
| 2016 |
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, ... ... Vilain E, et al. ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients. Human Mutation. PMID 26931382 DOI: 10.1002/Humu.22983 |
0.327 |
|
| 2016 |
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. A novel follicle-stimulating hormone receptor mutation causing primary ovarian failure: a fertility application of whole exome sequencing. Human Reproduction (Oxford, England). PMID 26911863 DOI: 10.1093/Humrep/Dew025 |
0.757 |
|
| 2016 |
Arnold AP, Reue K, Eghbali M, Vilain E, Chen X, Ghahramani N, Itoh Y, Li J, Link JC, Ngun T, Williams-Burris SM. The importance of having two X chromosomes. Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences. 371. PMID 26833834 DOI: 10.1098/Rstb.2015.0113 |
0.768 |
|
| 2016 |
Lee PA, Nordenström A, Houk CP, Ahmed SF, Auchus R, Baratz A, Baratz Dalke K, Liao LM, Lin-Su K, Looijenga 3rd LH, Mazur T, Meyer-Bahlburg HF, Mouriquand P, Quigley CA, Sandberg DE, ... Vilain E, et al. Global Disorders of Sex Development Update since 2006: Perceptions, Approach and Care. Hormone Research in Paediatrics. PMID 26820577 DOI: 10.1159/000442975 |
0.319 |
|
| 2015 |
Babkina N, Deignan JL, Lee H, Vilain E, Sankar R, Giurgea I, Mowat D, Graham JM. Early Infantile Epileptic Encephalopathy with a de novo variant in ZEB2 identified by exome sequencing. European Journal of Medical Genetics. PMID 26721324 DOI: 10.1016/J.Ejmg.2015.12.006 |
0.306 |
|
| 2015 |
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, et al. An infant with MLH3 variants, FOXG1-duplication and multiple, benign cranial and spinal tumors: A clinical exome sequencing study. Genes, Chromosomes & Cancer. PMID 26542077 DOI: 10.1002/Gcc.22319 |
0.303 |
|
| 2015 |
Barseghyan H, Délot E, Vilain E. New genomic technologies: An aid for diagnosis of disorders of sex development Hormone and Metabolic Research. 47: 312-320. PMID 25970709 DOI: 10.1055/S-0035-1548831 |
0.411 |
|
| 2015 |
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, ... ... Vilain E, et al. DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies. European Journal of Human Genetics : Ejhg. PMID 25944381 DOI: 10.1038/Ejhg.2015.71 |
0.352 |
|
| 2015 |
Borges KS, Arboleda VA, Vilain E. Mutations in the PCNA-binding site of CDKN1C inhibit cell proliferation by impairing the entry into S phase. Cell Division. 10: 2. PMID 25861374 DOI: 10.1186/S13008-015-0008-8 |
0.653 |
|
| 2015 |
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, ... ... Vilain E, et al. De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay. American Journal of Human Genetics. 96: 498-506. PMID 25728775 DOI: 10.1016/J.Ajhg.2015.01.017 |
0.672 |
|
| 2015 |
Bermon S, Vilain E, Fénichel P, Ritzén M. Women with hyperandrogenism in elite sports: scientific and ethical rationales for regulating. The Journal of Clinical Endocrinology and Metabolism. 100: 828-30. PMID 25587809 DOI: 10.1210/Jc.2014-3603 |
0.301 |
|
| 2015 |
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, ... ... Vilain E, et al. Exome sequencing for the diagnosis of 46,XY disorders of sex development. The Journal of Clinical Endocrinology and Metabolism. 100: E333-44. PMID 25383892 DOI: 10.1210/Jc.2014-2605 |
0.731 |
|
| 2014 |
Ngun TC, Vilain E. The biological basis of human sexual orientation: is there a role for epigenetics? Advances in Genetics. 86: 167-84. PMID 25172350 DOI: 10.1016/B978-0-12-800222-3.00008-5 |
0.787 |
|
| 2014 |
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. Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia. Jama Neurology. 71: 1237-46. PMID 25133958 DOI: 10.1001/Jamaneurol.2014.1944 |
0.319 |
|
| 2014 |
Arboleda VA, Sandberg DE, Vilain E. DSDs: genetics, underlying pathologies and psychosexual differentiation. Nature Reviews. Endocrinology. 10: 603-15. PMID 25091731 DOI: 10.1038/Nrendo.2014.130 |
0.725 |
|
| 2014 |
Ha NQ, Dworkin SL, Martínez-Patiño MJ, Rogol AD, Rosario V, Sánchez FJ, Wrynn A, Vilain E. Hurdling over sex? Sport, science, and equity. Archives of Sexual Behavior. 43: 1035-42. PMID 25085349 DOI: 10.1007/S10508-014-0332-0 |
0.336 |
|
| 2014 |
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. The effects of perinatal testosterone exposure on the DNA methylome of the mouse brain are late-emerging. Biology of Sex Differences. 5: 8. PMID 24976947 DOI: 10.1186/2042-6410-5-8 |
0.785 |
|
| 2014 |
Ngun TC, Ghahramani NM, Creek MM, Williams-Burris SM, Barseghyan H, Itoh Y, Sánchez FJ, McClusky R, Sinsheimer JS, Arnold AP, Vilain E. Feminized behavior and brain gene expression in a novel mouse model of Klinefelter Syndrome. Archives of Sexual Behavior. 43: 1043-57. PMID 24923877 DOI: 10.1007/S10508-014-0316-0 |
0.807 |
|
| 2014 |
Arboleda VA, Fleming A, Barseghyan H, Délot E, Sinsheimer JS, Vilain E. Regulation of sex determination in mice by a non-coding genomic region. Genetics. 197: 885-97. PMID 24793290 DOI: 10.1534/Genetics.113.160259 |
0.709 |
|
| 2014 |
Caburet S, Arboleda VA, Llano E, Overbeek PA, Barbero JL, Oka K, Harrison W, Vaiman D, Ben-Neriah Z, GarcÃa-Tuñón I, Fellous M, Pendás AM, Veitia RA, Vilain E. Mutant cohesin in premature ovarian failure. The New England Journal of Medicine. 370: 943-9. PMID 24597867 DOI: 10.1056/Nejmoa1309635 |
0.754 |
|
| 2014 |
Ohnesorg T, Vilain E, Sinclair AH. The genetics of disorders of sex development in humans. Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation. 8: 262-72. PMID 24504012 DOI: 10.1159/000357956 |
0.486 |
|
| 2014 |
Amarillo IE, Li WL, Li X, Vilain E, Kantarci S. 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. American Journal of Medical Genetics. Part A. 164: 958-65. PMID 24459036 DOI: 10.1002/Ajmg.A.36393 |
0.357 |
|
| 2014 |
Lee PA, Wisniewski AB, Baskin L, Vogiatzi MG, Vilain E, Rosenthal SM, Houk C. Advances in diagnosis and care of persons with DSD over the last decade International Journal of Pediatric Endocrinology. 2014: 19. DOI: 10.1186/1687-9856-2014-19 |
0.321 |
|
| 2013 |
Chen X, Williams-Burris SM, McClusky R, Ngun TC, Ghahramani N, Barseghyan H, Reue K, Vilain E, Arnold AP. The Sex Chromosome Trisomy mouse model of XXY and XYY: metabolism and motor performance. Biology of Sex Differences. 4: 15. PMID 23926958 DOI: 10.1186/2042-6410-4-15 |
0.775 |
|
| 2013 |
Baxter RM, Vilain E. Translational genetics for diagnosis of human disorders of sex development. Annual Review of Genomics and Human Genetics. 14: 371-92. PMID 23875799 DOI: 10.1146/Annurev-Genom-091212-153417 |
0.401 |
|
| 2013 |
Hennekam RC, Allanson JE, Biesecker LG, Carey JC, Opitz JM, Vilain E. Elements of morphology: standard terminology for the external genitalia. American Journal of Medical Genetics. Part A. 161: 1238-63. PMID 23650202 DOI: 10.1002/Ajmg.A.35934 |
0.329 |
|
| 2013 |
Sánchez FJ, Martínez-Patiño MJ, Vilain E. The new policy on hyperandrogenism in elite female athletes is not about "sex testing". Journal of Sex Research. 50: 112-5. PMID 23320653 DOI: 10.1080/00224499.2012.752429 |
0.355 |
|
| 2013 |
Sánchez FJ, Bocklandt S, Vilain E. The relationship between help-seeking attitudes and masculine norms among monozygotic male twins discordant for sexual orientation. Health Psychology : Official Journal of the Division of Health Psychology, American Psychological Association. 32: 52-6. PMID 23025300 DOI: 10.1037/A0029529 |
0.312 |
|
| 2013 |
Arboleda VA, Lee H, Sánchez FJ, Délot EC, Sandberg DE, Grody WW, Nelson SF, Vilain E. Targeted massively parallel sequencing provides comprehensive genetic diagnosis for patients with disorders of sex development. Clinical Genetics. 83: 35-43. PMID 22435390 DOI: 10.1111/J.1399-0004.2012.01879.X |
0.704 |
|
| 2013 |
Arboleda VA, Vilain E. Disorders of Sex Development Yen and Jaffe's Reproductive Endocrinology: Seventh Edition. 351-376. DOI: 10.1016/B978-1-4557-2758-2.00017-2 |
0.65 |
|
| 2012 |
Luders E, Sánchez FJ, Tosun D, Shattuck DW, Gaser C, Vilain E, Toga AW. Increased Cortical Thickness in Male-to-Female Transsexualism. Journal of Behavioral and Brain Science. 2: 357-362. PMID 23724358 DOI: 10.4236/Jbbs.2012.23040 |
0.384 |
|
| 2012 |
Fleming A, Ghahramani N, Zhu MX, Délot EC, Vilain E. Membrane β-catenin and adherens junctions in early gonadal patterning. Developmental Dynamics : An Official Publication of the American Association of Anatomists. 241: 1782-98. PMID 22972715 DOI: 10.1002/Dvdy.23870 |
0.772 |
|
| 2012 |
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. Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome. Nature Genetics. 44: 788-92. PMID 22634751 DOI: 10.1038/Ng.2275 |
0.68 |
|
| 2012 |
Czech DP, Lee J, Sim H, Parish CL, Vilain E, Harley VR. The human testis-determining factor SRY localizes in midbrain dopamine neurons and regulates multiple components of catecholamine synthesis and metabolism. Journal of Neurochemistry. 122: 260-71. PMID 22568433 DOI: 10.1111/J.1471-4159.2012.07782.X |
0.34 |
|
| 2012 |
Vilain E, Sánchez FJ. Reproductive endocrinology: athletes' bodies, sexed bodies--intersexuality in athletics. Nature Reviews. Endocrinology. 8: 198-9. PMID 22124443 DOI: 10.1038/Nrendo.2011.213 |
0.308 |
|
| 2011 |
Arboleda VA, Vilain E. The evolution of the search for novel genes in mammalian sex determination: from mice to men. Molecular Genetics and Metabolism. 104: 67-71. PMID 21795084 DOI: 10.1016/J.Ymgme.2011.06.024 |
0.74 |
|
| 2011 |
Vilain E. The genetics of ovotesticular disorders of sex development. Advances in Experimental Medicine and Biology. 707: 105-6. PMID 21691964 DOI: 10.1007/978-1-4419-8002-1_22 |
0.395 |
|
| 2011 |
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, ... ... Vilain E, et al. Copy number variation in patients with disorders of sex development due to 46,XY gonadal dysgenesis. Plos One. 6: e17793. PMID 21408189 DOI: 10.1371/Journal.Pone.0017793 |
0.744 |
|
| 2011 |
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, ... ... Vilain E, et al. Identification of SOX3 as an XX male sex reversal gene in mice and humans. The Journal of Clinical Investigation. 121: 328-41. PMID 21183788 DOI: 10.1172/Jci42580 |
0.75 |
|
| 2011 |
Ngun TC, Ghahramani N, Sánchez FJ, Bocklandt S, Vilain E. The genetics of sex differences in brain and behavior. Frontiers in Neuroendocrinology. 32: 227-46. PMID 20951723 DOI: 10.1016/J.Yfrne.2010.10.001 |
0.793 |
|
| 2010 |
Sánchez FJ, Vilain E. Genes and brain sex differences. Progress in Brain Research. 186: 65-76. PMID 21094886 DOI: 10.1016/B978-0-444-53630-3.00005-1 |
0.488 |
|
| 2010 |
Sánchez FJ, Bocklandt S, Vilain E. The biology of sexual orientation and gender identity Hormones, Brain and Behavior Online. 1911-1931. DOI: 10.1016/B978-008088783-8.00060-7 |
0.383 |
|
| 2009 |
Sanchez FJ, Bocklandt S, Vilain E. Gender Role Conflict, Interest in Casual Sex, and Relationship Satisfaction Among Gay Men. Psychology of Men & Masculinity. 10: 237-243. PMID 20721305 DOI: 10.1037/A0016325 |
0.328 |
|
| 2009 |
Sánchez FJ, Greenberg ST, Liu WM, Vilain E. Reported Effects of Masculine Ideals on Gay Men. Psychology of Men & Masculinity. 10: 73-87. PMID 20628534 DOI: 10.1037/A0013513 |
0.31 |
|
| 2009 |
Ching S, Vilain E. Targeted disruption of Sonic Hedgehog in the mouse adrenal leads to adrenocortical hypoplasia. Genesis (New York, N.Y. : 2000). 47: 628-37. PMID 19536807 DOI: 10.1002/Dvg.20532 |
0.78 |
|
| 2009 |
Luders E, Sánchez FJ, Gaser C, Toga AW, Narr KL, Hamilton LS, Vilain E. Regional gray matter variation in male-to-female transsexualism. Neuroimage. 46: 904-7. PMID 19341803 DOI: 10.1016/J.Neuroimage.2009.03.048 |
0.41 |
|
| 2009 |
Hare L, Bernard P, Sánchez FJ, Baird PN, Vilain E, Kennedy T, Harley VR. Androgen receptor repeat length polymorphism associated with male-to-female transsexualism. Biological Psychiatry. 65: 93-6. PMID 18962445 DOI: 10.1016/J.Biopsych.2008.08.033 |
0.393 |
|
| 2008 |
Kerkel K, Spadola A, Yuan E, Kosek J, Jiang L, Hod E, Li K, Murty VV, Schupf N, Vilain E, Morris M, Haghighi F, Tycko B. Genomic surveys by methylation-sensitive SNP analysis identify sequence-dependent allele-specific DNA methylation. Nature Genetics. 40: 904-8. PMID 18568024 DOI: 10.1038/Ng.174 |
0.303 |
|
| 2008 |
Nikolova G, Sinsheimer JS, Eicher EM, Vilain E. The chromosome 11 region from strain 129 provides protection from sex reversal in XYPOS mice. Genetics. 179: 419-27. PMID 18458101 DOI: 10.1534/Genetics.108.088088 |
0.788 |
|
| 2008 |
Roselli CE, Bocklandt S, Stadelman HL, Wadsworth T, Vilain E, Stormshak F. Prolactin expression in the sheep brain. Neuroendocrinology. 87: 206-15. PMID 18223310 DOI: 10.1159/000114643 |
0.323 |
|
| 2008 |
Arboleda VA, Twiss CO, Vilain E, Rodriguez LV. In Vitro Effects Of A Single Nucleotide Polymorphism On Expression Of Extracellular Matrix Protein Laminin Gamma-1 (Lamc1) The Journal of Urology. 179: 445-445. DOI: 10.1016/S0022-5347(08)61305-1 |
0.627 |
|
| 2007 |
Bocklandt S, Vilain E. Sex differences in brain and behavior: hormones versus genes. Advances in Genetics. 59: 245-66. PMID 17888801 DOI: 10.1016/S0065-2660(07)59009-7 |
0.451 |
|
| 2007 |
Lacombe A, Lelievre V, Roselli CE, Muller JM, Waschek JA, Vilain E. Lack of vasoactive intestinal peptide reduces testosterone levels and reproductive aging in mouse testis. The Journal of Endocrinology. 194: 153-60. PMID 17592029 DOI: 10.1677/Joe-07-0102 |
0.338 |
|
| 2007 |
Li Y, Vilain E, Conte F, Rajpert-De Meyts E, Lau YF. Testis-specific protein Y-encoded gene is expressed in early and late stages of gonadoblastoma and testicular carcinoma in situ. Urologic Oncology. 25: 141-6. PMID 17349529 DOI: 10.1016/J.Urolonc.2006.08.002 |
0.353 |
|
| 2007 |
Vilain E, Achermann JC, Eugster EA, Harley VR, Morel Y, Wilson JD, Hiort O. We used to call them hermaphrodites. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 9: 65-6. PMID 17304046 DOI: 10.1097/Gim.0B013E31802Cffcf |
0.498 |
|
| 2007 |
Nikolova G, Lee H, Berkovitz S, Nelson S, Sinsheimer J, Vilain E, Rodríguez LV. Sequence variant in the laminin gamma1 (LAMC1) gene associated with familial pelvic organ prolapse. Human Genetics. 120: 847-56. PMID 17021862 DOI: 10.1007/S00439-006-0267-1 |
0.791 |
|
| 2007 |
Nikolova G, Twiss CO, Lee H, Stanley N, Sinsheimer J, Vilain E, Rodriguez LV. 1280: Increased Susceptibility to Genitovaginal Prolapse Associated with a Polymorphism in the Promoter of the Extracellular Matrix Protein LAMC1 Journal of Urology. 177: 421-422. DOI: 10.1016/S0022-5347(18)31494-0 |
0.748 |
|
| 2006 |
Nikolova G, Vilain E. Mechanisms of disease: Transcription factors in sex determination--relevance to human disorders of sex development. Nature Clinical Practice. Endocrinology & Metabolism. 2: 231-8. PMID 16932288 DOI: 10.1038/Ncpendmet0143 |
0.818 |
|
| 2006 |
Houk CP, Hughes IA, Ahmed SF, Lee PA, Hiort O, Vilain E, Hines M, Berenbaum S, Copeland K, Donohoue P, Baskin L, Mouriquand P, Meyer-Bahlburg H, Carmichael P, Drop S, et al. Summary of consensus statement on intersex disorders and their management Pediatrics. 118: 753-757. PMID 16882833 DOI: 10.1542/Peds.2006-0737 |
0.39 |
|
| 2006 |
Lacombe A, Lelievre V, Roselli CE, Salameh W, Lue YH, Lawson G, Muller JM, Waschek JA, Vilain E. Delayed testicular aging in pituitary adenylate cyclase-activating peptide (PACAP) null mice. Proceedings of the National Academy of Sciences of the United States of America. 103: 3793-8. PMID 16505386 DOI: 10.1073/Pnas.0505827103 |
0.307 |
|
| 2006 |
Hutz JE, Krause AS, Achermann JC, Vilain E, Tauber M, Lecointre C, McCabe ER, Hammer GD, Keegan CE. IMAGe association and congenital adrenal hypoplasia: no disease-causing mutations found in the ACD gene. Molecular Genetics and Metabolism. 88: 66-70. PMID 16504561 DOI: 10.1016/J.Ymgme.2006.01.006 |
0.356 |
|
| 2006 |
Dewing P, Chiang CW, Sinchak K, Sim H, Fernagut PO, Kelly S, Chesselet MF, Micevych PE, Albrecht KH, Harley VR, Vilain E. Direct regulation of adult brain function by the male-specific factor SRY. Current Biology : Cb. 16: 415-20. PMID 16488877 DOI: 10.1016/J.Cub.2006.01.017 |
0.785 |
|
| 2006 |
Bernard P, Ludbrook L, Queipo G, Dinulos MB, Kletter GB, Zhang YH, Phelan JK, McCabe ER, Harley VR, Vilain E. A familial missense mutation in the hinge region of DAX1 associated with late-onset AHC in a prepubertal female. Molecular Genetics and Metabolism. 88: 272-9. PMID 16459121 DOI: 10.1016/J.Ymgme.2005.12.004 |
0.362 |
|
| 2006 |
Bocklandt S, Horvath S, Vilain E, Hamer DH. Extreme skewing of X chromosome inactivation in mothers of homosexual men. Human Genetics. 118: 691-4. PMID 16369763 DOI: 10.1007/S00439-005-0119-4 |
0.389 |
|
| 2006 |
Jack GS, Nikolova G, Vilain E, Raz S, RodrÃguez LV. Familial transmission of genitovaginal prolapse. International Urogynecology Journal and Pelvic Floor Dysfunction. 17: 498-501. PMID 16365693 DOI: 10.1007/S00192-005-0054-X |
0.775 |
|
| 2006 |
Vilain E. Genetics of intersexuality Journal of Gay and Lesbian Psychotherapy. 10: 9-26. DOI: 10.1300/J236v10n02_02 |
0.314 |
|
| 2005 |
Fleming A, Vilain E. The endless quest for sex determination genes Clinical Genetics. 67: 15-25. PMID 15617542 DOI: 10.1111/J.1399-0004.2004.00376.X |
0.465 |
|
| 2005 |
Jack GS, Bukkapatnam R, Nicolav G, Vilain E, Rodriguez LV. 859: Autosomal Dominant Tranmission of Genitovaginal Prolapse The Journal of Urology. 173: 233-234. DOI: 10.1016/S0022-5347(18)35028-6 |
0.309 |
|
| 2004 |
Keegan CE, Vilain E, Mohammed M, Lehoczky J, Dobyns WB, Archer SM, Innis JW. Microcephaly, jejunal atresia, aberrant right bronchus, ocular anomalies, and XY sex reversal. American Journal of Medical Genetics. Part A. 125: 293-8. PMID 14994240 DOI: 10.1002/Ajmg.A.20455 |
0.412 |
|
| 2004 |
Domenice S, Correa RV, Costa EMF, Nishi MY, Vilain E, Arnhold IJP, Mendonca BB. Mutations in the SRY, DAX1, SF1 and WNT4 genes in Brazilian sex-reversed patients Brazilian Journal of Medical and Biological Research. 37: 145-150. PMID 14689056 DOI: 10.1590/S0100-879X2004000100020 |
0.448 |
|
| 2003 |
Dewing P, Shi T, Horvath S, Vilain E. Sexually dimorphic gene expression in mouse brain precedes gonadal differentiation. Brain Research. Molecular Brain Research. 118: 82-90. PMID 14559357 DOI: 10.1016/S0169-328X(03)00339-5 |
0.785 |
|
| 2003 |
Jordan BK, Shen JH, Olaso R, Ingraham HA, Vilain E. Wnt4 overexpression disrupts normal testicular vasculature and inhibits testosterone synthesis by repressing steroidogenic factor 1/beta-catenin synergy. Proceedings of the National Academy of Sciences of the United States of America. 100: 10866-71. PMID 12949260 DOI: 10.1073/Pnas.1834480100 |
0.393 |
|
| 2003 |
Bernard P, Tang P, Liu S, Dewing P, Harley VR, Vilain E. Dimerization of SOX9 is required for chondrogenesis, but not for sex determination. Human Molecular Genetics. 12: 1755-65. PMID 12837698 DOI: 10.1093/Hmg/Ddg182 |
0.769 |
|
| 2002 |
Jordan BK, Vilain E. Sry and the genetics of sex determination. Advances in Experimental Medicine and Biology. 511: 1-13; discussion 13-. PMID 12575752 DOI: 10.1007/978-1-4615-0621-8_1 |
0.434 |
|
| 2002 |
Dewing P, Bernard P, Vilain E. Disorders of gonadal development. Seminars in Reproductive Medicine. 20: 189-98. PMID 12428199 DOI: 10.1055/S-2002-35383 |
0.79 |
|
| 2002 |
Jordan BK, Jain M, Natarajan S, Frasier SD, Vilain E. Familial mutation in the testis-determining gene SRY shared by an XY female and her normal father. The Journal of Clinical Endocrinology and Metabolism. 87: 3428-32. PMID 12107262 DOI: 10.1210/Jcem.87.7.8646 |
0.442 |
|
| 2002 |
Shalitin S, Josefsberg Z, Vilain E, Shomrat R, Weintrob N. Adrenal hypoplasia congenita with multiple pituitary hormone deficiency without documented mutation in DAX1 or SF1 gene Molecular Genetics and Metabolism. 76: 157-161. PMID 12083815 DOI: 10.1016/S1096-7192(02)00029-X |
0.332 |
|
| 2002 |
Vilain E. Anomalies of human sexual development: clinical aspects and genetic analysis. Novartis Foundation Symposium. 244: 43-53; discussion 53. PMID 11990797 DOI: 10.1002/0470868732.Ch5 |
0.487 |
|
| 2001 |
Jordan BK, Mohammed M, Ching ST, Délot E, Chen XN, Dewing P, Swain A, Rao PN, Elejalde BR, Vilain E. Up-regulation of WNT-4 signaling and dosage-sensitive sex reversal in humans. American Journal of Human Genetics. 68: 1102-9. PMID 11283799 DOI: 10.1086/320125 |
0.8 |
|
| 2001 |
Patel M, Dorman KS, Zhang YH, Huang BL, Arnold AP, Sinsheimer JS, Vilain E, McCabe ER. Primate DAX1, SRY, and SOX9: evolutionary stratification of sex-determination pathway. American Journal of Human Genetics. 68: 275-80. PMID 11112659 DOI: 10.1086/316932 |
0.377 |
|
| 2000 |
Dewing P, Ching ST, Zhang YH, Huang BL, Peirce RM, McCabe ER, Vilain E. Midkine is expressed early in rat fetal adrenal development. Molecular Genetics and Metabolism. 71: 616-22. PMID 11136554 DOI: 10.1006/Mgme.2000.3111 |
0.774 |
|
| 1999 |
Vilain E, Merrer MLE, Lecointre C, Desangles F, Kay MA, Maroteaux P, Mccabe ERB. IMAGe, a new clinical association of Intrauterine growth retardation, Metaphyseal dysplasia, adrenal hypoplasia congenita, and Genital anomalies Journal of Clinical Endocrinology and Metabolism. 84: 4335-4340. PMID 10599684 DOI: 10.1210/Jcem.84.12.6186 |
0.334 |
|
| 1999 |
Vilain E, Quigley EC, Aisenberg J, Zhang Y, Freidenberg G, Huang B, McCabe ERB. New syndromic association of male pseudohermaphroditism with female external genitalia and adrenal hypoplasia congenita suggests additional sex determining gene(s) Genetics in Medicine. 1: 64-64. DOI: 10.1097/00125817-199901000-00092 |
0.417 |
|
| 1998 |
Vilain E. CYPs, SNPs, and molecular diagnosis in the postgenomic era Clinical Chemistry. 44: 2403-2404. PMID 9836703 DOI: 10.1093/Clinchem/44.12.2403 |
0.31 |
|
| 1998 |
Vilain E, McCabe ERB. Mammalian sex determination: From gonads to brain Molecular Genetics and Metabolism. 65: 74-84. PMID 9787099 DOI: 10.1006/Mgme.1998.2749 |
0.52 |
|
| 1998 |
Zhang YH, Guo W, Wagner RL, Huang BL, McCabe L, Vilain E, Burris TP, Anyane-Yeboa K, Burghes AH, Chitayat D, Chudley AE, Genel M, Gertner JM, Klingensmith GJ, Levine SN, et al. DAX1 mutations map to putative structural domains in a deduced three-dimensional model. American Journal of Human Genetics. 62: 855-64. PMID 9529340 DOI: 10.1086/301782 |
0.304 |
|
| 1997 |
Vilain E, Guo W, Zhang YH, McCabe ERB. DAX1 gene expression upregulated by steroidogenic factor 1 in an adrenocortical Carcinoma cell line Biochemical and Molecular Medicine. 61: 1-8. PMID 9232190 DOI: 10.1006/Bmme.1997.2601 |
0.323 |
|
| 1996 |
McElreavey K, Vilain E, Barbaux S, Fuqua JS, Fechner PY, Souleyreau N, Doco-Fenzy M, Gabriel R, Quereux C, Fellous M, Berkovitz GD. Loss of sequences 3' to the testis-determining gene, SRY, including the Y pseudoautosomal boundary associated with partial testicular determination. Proceedings of the National Academy of Sciences of the United States of America. 93: 8590-4. PMID 8710915 DOI: 10.1073/Pnas.93.16.8590 |
0.596 |
|
| 1995 |
Barbaux S, Vilain E, Raoul O, Gilgenkrantz S, Jeandidier E, Chadenas D, Souleyreau N, Fellous M, McElreavey K. Proximal deletions of the long arm of the Y chromosome suggest a critical region associated with a specific subset of characteristic Turner stigmata. Human Molecular Genetics. 4: 1565-8. PMID 8541840 DOI: 10.1093/Hmg/4.9.1565 |
0.581 |
|
| 1995 |
Tar A, Sólyom J, Györvári B, Ion A, Telvi L, Barbaux S, Souleyreau N, Vilain E, Fellous M, McElreavey K. Testicular development in an SRY-negative 46,XX individual harboring a distal Xp deletion. Human Genetics. 96: 464-8. PMID 7557971 DOI: 10.1007/Bf00191807 |
0.564 |
|
| 1995 |
Barbaux S, Vilain E, McElreavey K, Fellous M. A view on sex determination in mammals Medecine/Sciences. 11: 529-536. |
0.365 |
|
| 1994 |
Boucekkine C, Toublanc JE, Abbas N, Chaabouni S, Ouahid S, Semrouni M, Jaubert F, Toublanc M, McElreavey K, Vilain E, Fellous M. Clinical and anatomical spectrum in XX sex reversed patients. Relationship to the presence of Y specific DNA-sequences Clinical Endocrinology. 40: 733-742. PMID 8033363 DOI: 10.1111/J.1365-2265.1994.Tb02506.X |
0.439 |
|
| 1994 |
Vilain E, Fiblec BL, Morichon-Delvallez N, Brauner R, Dommergues M, Dumez Y, Jaubert F, Boucekkine C, McElreavey K, Vekemans M, Fellous M. SRY-negative XX fetus with complete male phenotype The Lancet. 343: 240-241. PMID 7904700 DOI: 10.1016/S0140-6736(94)91029-4 |
0.559 |
|
| 1994 |
Pierga JY, Giacchetti S, Vilain E, Extra JM, Brice P, Espie M, Maragi JA, Fellous M, Marty M. Dysgerminoma in a pure 45,X Turner syndrome: report of a case and review of the literature. Gynecologic Oncology. 55: 459-64. PMID 7835789 DOI: 10.1006/Gyno.1994.1323 |
0.514 |
|
| 1993 |
McElreavey K, Vilain E, Abbas N, Herskowitz I, Fellous M. A regulatory cascade hypothesis for mammalian sex determination: SRY represses a negative regulator of male development. Proceedings of the National Academy of Sciences of the United States of America. 90: 3368-72. PMID 8475082 DOI: 10.1073/Pnas.90.8.3368 |
0.62 |
|
| 1993 |
Vilain E, Jaubert F, Fellous M, McElreavey K. Pathology of 46,XY pure gonadal dysgenesis: absence of testis differentiation associated with mutations in the testis-determining factor. Differentiation; Research in Biological Diversity. 52: 151-9. PMID 8472885 DOI: 10.1111/J.1432-0436.1993.Tb00625.X |
0.586 |
|
| 1993 |
Abbas N, McElreavey K, Leconiat M, Vilain E, Jaubert F, Berger R, Nihoul-Fekete C, Rappaport R, Fellous M. Familial case of 46,XX male and 46,XX true hermaphrodite associated with a paternal-derived SRY-bearing X chromosome. Comptes Rendus De L'Acadã©Mie Des Sciences. Sã©Rie Iii, Sciences De La Vie. 316: 375-83. PMID 8402263 |
0.538 |
|
| 1993 |
Toublanc JE, Boucekkine C, Abbas N, Barama D, Vilain E, McElreavey K, Toublanc M, Fellous M. Hormonal and molecular genetic findings in 46,XX subjects with sexual ambiguity and testicular differentiation. European Journal of Pediatrics. 152: S70-5. PMID 8339747 DOI: 10.1007/Bf02125443 |
0.584 |
|
| 1993 |
McElreavey K, Vilain E, Cotinot C, Payen E, Fellous M. Control of sex determination in animals. European Journal of Biochemistry / Febs. 218: 769-83. PMID 8281929 DOI: 10.1111/j.1432-1033.1993.tb18432.x |
0.456 |
|
| 1993 |
Boucekkine C, Vilain E, McElreavey K, Jaubert F, Brauner R, Thibaud E, Battin J, Toublanc JE, Kucheria K, Chaabouni S, Robel P, Gompel A, Joseph MG, Lambert JC, Lortat-Jacob S, et al. XY gonadal dysgenesis and SRY Annales D'Endocrinologie. 54: 315-321. PMID 8085778 |
0.374 |
|
| 1992 |
McElreavey KD, Vilain E, Boucekkine C, Vidaud M, Jaubert F, Richaud F, Fellous M. XY sex reversal associated with a nonsense mutation in SRY. Genomics. 13: 838-40. PMID 1639410 DOI: 10.1016/0888-7543(92)90164-N |
0.588 |
|
| 1992 |
Vilain E, McElreavey K, Jaubert F, Raymond JP, Richaud F, Fellous M. Familial case with sequence variant in the testis-determining region associated with two sex phenotypes. American Journal of Human Genetics. 50: 1008-11. PMID 1570829 |
0.57 |
|
| 1992 |
Vilain E, McElreavey K, Richaud F, Fellous M. [Isolation of the sex-determining gene in men]. Pathologie-Biologie. 40: 15-7. PMID 1570176 |
0.499 |
|
| 1992 |
Vilain E, Elreavey KM, Richaud F, Fellous M. [Sex genetics]. Presse Mã©Dicale (Paris, France : 1983). 21: 852-6. PMID 1535151 |
0.6 |
|
| 1992 |
Mcelreavy K, Vilain E, Abbas N, Costa JM, Souleyreau N, Kucheria K, Boucekkine C, Thibaud E, Brauner R, Flamant F, Fellous M. XY sex reversal associated with a deletion 5′ to the SRY "HMG box" in the testis-determining region Proceedings of the National Academy of Sciences of the United States of America. 89: 11016-11020. PMID 1438307 DOI: 10.1073/Pnas.89.22.11016 |
0.446 |
|
| 1992 |
McElreavey K, Rappaport R, Vilain E, Abbas N, Richaud F, Lortat-Jacob S, Berger R, LeConiat M, Boucekkine C, Kucheria K, Temtamy S, Nihoul-Fekete C, Brauner R, Fellous M. A minority of 46,XX true hermaphrodites are positive for the Y-DNA sequence including SRY Human Genetics. 90: 121-125. PMID 1427767 DOI: 10.1007/Bf00210754 |
0.575 |
|
| 1992 |
Boucekkine C, Toublanc JE, Abbas N, Semrouni M, Vilain E, McElreavey K, Mugneret F, Fellous M. The sole presence of the testis-determining region of the Y chromosome (SRY) in 46,XX patients is associated with phenotypic variability. Hormone Research. 37: 236-40. PMID 1292977 DOI: 10.1159/000182319 |
0.573 |
|
| 1992 |
Amit T, Ish-Shalom S, Glaser B, Youdim MBH, Hochberg Z, Giustina A, Bussi AR, Licini M, Pizzocolo G, Schettino M, Wehrenberg WB, Menis ED, Rin GD, Roiter I, Legovini P, ... ... Vilain E, et al. Subject Index, Vol. 37, 1992 Hormone Research in Paediatrics. 37: 247-248. DOI: 10.1159/000182322 |
0.42 |
|
| 1992 |
Amit T, Ish-Shalom S, Glaser B, Youdim MBH, Hochberg Z, Giustina A, Bussi AR, Licini M, Pizzocolo G, Schettino M, Wehrenberg WB, Menis ED, Rin GD, Roiter I, Legovini P, ... ... Vilain E, et al. Contents, Vol. 37, 1992 Hormone Research in Paediatrics. 37. DOI: 10.1159/000182312 |
0.418 |
|
| 1991 |
Vilain E, McElreavey K, Vidaud M, Richaud F, Fellous M. [The analysis of SRY doesn't explain all the pathology of sex determination]. Annales D'Endocrinologie. 52: 435-6. PMID 1824496 |
0.446 |
|
| Show low-probability matches. |