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Eric Vilain, MD, PhD a Curriculum Vitae
1. Domenice S, Correa RV, Costa EM, Nishi MY, Vilain E, Arnhold IJ, Mendonca BB. Mutations in the SRY, DAX1, SF1 and WNT4 genes in Brazilian sex-reversed patients. Braz J Med Biol Res, 37(1):145-50, 2004. 2. 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. Am. J. Med. Genet., 125A(3):293-8, 2004. 3. Fleming, A. & Vilain, E. The endless quest for sex determination genes. Clin Genet 67:15-25, 2004. 4. Jack GS, Nikolova G, Vilain E, Raz S, Rodriguez LV. Familial transmission of genitovaginal prolapse. Int. Urogynecol J Pelvic Floor Dysfunct. 2005. 5. Bocklandt S, Horvath S, Vilain E, Hamer DH. Extreme skewing of X inactivation in mothers of homosexual men. Human Genetics, 118(6):691-4, 2006. 6. Bernard P, Ludbrook L, Queipo G, Dinulos MB, Kletter GB, Zhang YH, Phelan JK, McCabe ER, Harley VB, Vilain E. A familial missense mutation in the hinge region of DAX1 associated with late onset AHC in a prepubertal female. Mol. Genet. Metab. In press. 7. Dewing P, Chiang C, Sinchak K, Sim H, Chesselet MF, Micevych P, Harley V, Vilain E. Direct role of Sry of mammalian brain function. Current Biology, 16(4):415-20, 2006. 8. 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. Mol Genet. Metab., 88:272-279, 2006. 9. Lacombe A, Lelievre V, Roselli CE, Salameh W, Lawson G, Muller JM, Waschek J, Vilain E. Protection against testicular aging in PACAP null mice. Proc. Natl. Acad. Sci. USA, 103(10): 3793-3798, 2006. 10. Hughes IA, Houk C, Ahmed SF, Lee PA; LWPES Consensus Group; ESPE Consensus Group.Consensus statement on management of intersex disorders. Arch Dis Child. 2006 Jul;91(7):554-63. 11. Lacombe A, Lee H, Zahed L, Choucair M, Muller J, Nelson SF, Salameh W, Vilain E. Disruption of POF1B binding to non-muscle actin filaments causes premature ovarian failure. Am. J. Hum. Genet., 79:113-119, 2006. 12. Nikolova G, Berkovitz S, Sinsheimer J, Rodriguez L, Vilain E (co-last author). Sequence variant in the laminin gamma1 (LAMC1) gene associated with familial pelvic organ prolapse. Human Genetics, 2006, 120(6):847-56. 13. Bernard P, Fleming A, Lacombe A, Vilain E. Wnt4 inhibits the canonical Wnt pathway and increases cell-cell adhesion by redirecting b-catenin to the cell membrane. In revision at Mol. Cell. Biol. 14. Nikolova G, Sincheimer J, Eicher E, Vilain E. Region on mouse chromosome 11 provides protection from sex reversal in a C57/BL6J-YPos congenic strain. Submitted to PNAS. 15.Lacombe A, Lelievre V, Roselli C, Muller JM, Waschek J, Vilain E. Lack of Vasoactive Intestinal Peptide reduces steroidogenesis and aging in mouse testis. In revision at Journal of Endocrinology.
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