| Medical Degree: |
M.D., Universite Rene Descartes (Paris V), 1995
|
|---|
| Medical Board Certification: |
Clinical Biochemical Genetics, American Board of Medical Genetics, 1999
Clinical Genetics, American Board of Medical Genetics, 1999
|
|---|
| Fellowship: |
Genetics, UCLA School of Medicine, 1999
Clinical Biochemical Genetics, Cedars-Sinai Medical Center, 1998
|
|---|
| Residency: |
Genetics, UCLA School of Medicine, 1998
Genetics, Cedars-Sinai Medical Center, 1997
|
|---|
| Internship: |
Pediatrics, UCLA School of Medicine, 1996
|
|---|
| Work Address: |
Office
Gonda
Los Angeles, CA 90095
UNITED STATES
|
|---|
| Work Address: |
Laboratory
Gonda
Los Angeles, CA 90095
UNITED STATES
|
|---|
|
Work Phone Number:
|
310-267-2455
Office
310-267-2456
Laboratory
|
|---|
|
|
Bernard, P. Ludbrook, L. Queipo, G. Dinulos, M. B. Kletter, G. B. Zhang, Y. H. Phelan, J. K. McCabe, E. R. Harley, V. R. Vilain, E. A familial missense mutation in the hinge region of DAX1 associated with late-onset AHC in a prepubertal female.
Mol Genet Metab.
2006;
.
Lacombe, A. Lelievre, V. Roselli, C. E. Salameh, W. Lue, Y. H. Lawson, G. Muller, J. M. Waschek, J. A. Vilain, E. Delayed testicular aging in pituitary adenylate cyclase-activating peptide (PACAP) null mice.
Proc Natl Acad Sci U S A.
2006;
.
Dewing, P. Chiang, C. W. Sinchak, K. Sim, H. Fernagut, P. O. Kelly, S. Chesselet, M. F. Micevych, P. E. Albrecht, K. H. Harley, V. R. Vilain, E. Direct regulation of adult brain function by the male-specific factor SRY.
Curr Biol.
2006; 16(4):
415-20.
Bocklandt, S. Horvath, S. Vilain, E. Hamer, D. H. Extreme skewing of X chromosome inactivation in mothers of homosexual men.
Hum Genet.
2006; 118(6):
691-4.
Hutz, J. E. Krause, A. S. Achermann, J. C. Vilain, E. Tauber, M. Lecointre, C. McCabe, E. R. Hammer, G. D. Keegan, C. E. IMAGe association and congenital adrenal hypoplasia: No disease-causing mutations found in the ACD gene.
Mol Genet Metab.
2006;
.
Fleming, A. Vilain, E. The endless quest for sex determination genes.
Clin Genet.
2005; 67(1):
15-25.
Vilain, E. Dead chromosome walking.
Pediatr Res.
2004; 55(4):
539-40.
Keegan, C. E. Vilain, E. Mohammed, M. Lehoczky, J. Dobyns, W. B. Archer, S. M. Innis, J. W. Microcephaly, jejunal atresia, aberrant right bronchus, ocular anomalies, and XY sex reversal.
Am J Med Genet A.
2004; 125(3):
293-8.
Domenice, S. Correa, R. V. Costa, E. M. Nishi, M. Y. Vilain, E. Arnhold, I. J. Mendonca, B. B. Mutations in the SRY, DAX1, SF1 and WNT4 genes in Brazilian sex-reversed patients.
Braz J Med Biol Res.
2004; 37(1):
145-50.
Bernard, P. Tang, P. Liu, S. Dewing, P. Harley, V. R. Vilain, E. Dimerization of SOX9 is required for chondrogenesis, but not for sex determination.
Hum Mol Genet.
2003; 12(14):
1755-65.
Dewing, P. Shi, T. Horvath, S. Vilain, E. Sexually dimorphic gene expression in mouse brain precedes gonadal differentiation.
Brain Res Mol Brain Res.
2003; 118(1-2):
82-90.
Jordan, B. K. Shen, J. H. Olaso, R. Ingraham, H. A. Vilain, E. 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; 100(19):
10866-71.
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.
Mol Genet Metab.
2002; 76(2):
157-61.
Vilain, E. Anomalies of human sexual development: clinical aspects and genetic analysis.
Novartis Found Symp.
2002; 244:
43-53; discussion 53-6, 79-85, 253-7.
Cederbaum, S. D. Koo-McCoy, S. Tein, I. Hsu, B. Y. Ganguly, A. Vilain, E. Dipple, K. Cvitanovic-Sojat, L. Stanley, C. 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; 77(3):
195-201.
Dewing, P. Bernard, P. Vilain, E. Disorders of gonadal development.
Semin Reprod Med.
2002; 20(3):
189-98.
Jordan, B. K. Jain, M. Natarajan, S. Frasier, S. D. Vilain, E. Familial mutation in the testis-determining gene SRY shared by an XY female and her normal father.
J Clin Endocrinol Metab.
2002; 87(7):
3428-32.
Jordan, B. K. Vilain, E. Sry and the genetics of sex determination.
Adv Exp Med Biol.
2002; 511:
1-13; discussion 13-4.
Patel, M. Dorman, K. S. Zhang, Y. H. Huang, B. L. Arnold, A. P. Sinsheimer, J. S. Vilain, E. McCabe, E. R. Primate DAX1, SRY, and SOX9: evolutionary stratification of sex-determination pathway.
Am J Hum Genet.
2001; 68(1):
275-80.
Jordan, B. K. Mohammed, M. Ching, S. T. Delot, E. Chen, X. N. Dewing, P. Swain, A. Rao, P. N. Elejalde, B. R. Vilain, E. Up-regulation of WNT-4 signaling and dosage-sensitive sex reversal in humans.
Am J Hum Genet.
2001; 68(5):
1102-9.
Zhang, Y. Dipple, K. M. Vilain, E. Huang, B. L. Finlayson, G. Therrell, B. L. Worley, K. Deininger, P. McCabe, E. R. AluY insertion (IVS4-52ins316alu) in the glycerol kinase gene from an individual with benign glycerol kinase deficiency.
Hum Mutat.
2000; 15(4):
316-23.
Cederbaum, S. Vilain, E. Defects in energy metabolism: coming of age, slowly.
J Pediatr.
2000; 136(2):
147-8.
Dewing, P. Ching, S. T. Zhang, Y. H. Huang, B. L. Peirce, R. M. McCabe, E. R. Vilain, E. Midkine is expressed early in rat fetal adrenal development.
Mol Genet Metab.
2000; 71(4):
616-22.
Vilain, E. Le Merrer, M. Lecointre, C. Desangles, F. Kay, M. A. Maroteaux, P. McCabe, E. R. IMAGe, a new clinical association of intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies.
J Clin Endocrinol Metab.
1999; 84(12):
4335-40.
Cederbaum, S. Vilain, E. Newborn screening for inborn errors of metabolism is going to expand: are we ready?.
J Pediatr.
1999; 134(6):
666-7.
Vilain, E. CYPs, SNPs, and molecular diagnosis in the postgenomic era.
Clin Chem.
1998; 44(12):
2403-4.
Zhang, Y. H. Guo, W. Wagner, R. L. Huang, B. L. McCabe, L. Vilain, E. Burris, T. P. Anyane-Yeboa, K. Burghes, A. H. Chitayat, D. Chudley, A. E. Genel, M. Gertner, J. M. Klingensmith, G. J. Levine, S. N. Nakamoto, J. New, M. I. Pagon, R. A. Pappas, J. G. Quigley, C. A. Rosenthal, I. M. Baxter, J. D. Fletterick, R. J. McCabe, E. R. DAX1 mutations map to putative structural domains in a deduced three-dimensional model.
Am J Hum Genet.
1998; 62(4):
855-64.
Vilain, E. McCabe, E. R. Mammalian sex determination: from gonads to brain.
Mol Genet Metab.
1998; 65(2):
74-84.
Vilain, E. Guo, W. Zhang, Y. H. McCabe, E. R. DAX1 gene expression upregulated by steroidogenic factor 1 in an adrenocortical carcinoma cell line.
Biochem Mol Med.
1997; 61(1):
1-8.
McElreavey, K. Vilain, E. Barbaux, S. Fuqua, J. S. Fechner, P. Y. Souleyreau, N. Doco-Fenzy, M. Gabriel, R. Quereux, C. Fellous, M. Berkovitz, G. D. Loss of sequences 3' to the testis-determining gene, SRY, including the Y pseudoautosomal boundary associated with partial testicular determination.
Proc Natl Acad Sci U S A.
1996; 93(16):
8590-4.
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.
Hum Mol Genet.
1995; 4(9):
1565-8.
Tar, A. Solyom, J. Gyorvari, 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.
Hum Genet.
1995; 96(4):
464-8.
Desangles, F. Vilain, E. Arborio, M. De Revel, T. Flandrin, G. t(15;17) hypergranular acute promyelocytic leukemia (M3) developing into a t(3;6) M3 without t(15;17) at relapse.
Leuk Lymphoma.
1995; 19(1-2):
185-8.
Boucekkine, C. Toublanc, J. E. Abbas, N. Chaabouni, S. Ouahid, S. Semrouni, M. Jaubert, F. Toublanc, M. McElreavey, K. Vilain, E. et al., Clinical and anatomical spectrum in XX sex reversed patients. Relationship to the presence of Y specific DNA-sequences.
Clin Endocrinol (Oxf).
1994; 40(6):
733-42.
Pierga, J. Y. Giacchetti, S. Vilain, E. Extra, J. M. Brice, P. Espie, M. Maragi, J. A. Fellous, M. Marty, M. Dysgerminoma in a pure 45,X Turner syndrome: report of a case and review of the literature.
Gynecol Oncol.
1994; 55(3 Pt 1):
459-64.
Vilain, E. Le Fiblec, B. Morichon-Delvallez, N. Brauner, R. Dommergues, M. Dumez, Y. Jaubert, F. Boucekkine, C. McElreavey, K. Vekemans, M. et al., SRY-negative XX fetus with complete male phenotype.
Lancet.
1994; 343(8891):
240-1.
Vilain, E. Bompard, Y. Clement, K. Laplanche, S. de Kermadec, S. Aufrant, C. [Brief antiseptic application of iodine in neonatal intensive care units: effects on thyroid function].
Arch Pediatr.
1994; 1(9):
795-800.
Boucekkine, C. Vilain, E. McElreavey, K. Jaubert, F. Brauner, R. Thibaud, E. Battin, J. Toublanc, J. E. Kucheria, K. Chaabouni, S. et al., [Study of sex determination gene (SRY) in 46,XY gonadal dysgenesis].
Ann Endocrinol (Paris).
1994; 54(5):
315-21.
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.
Proc Natl Acad Sci U S A.
1993; 90(8):
3368-72.
McElreavey, K. Vilain, E. Cotinot, C. Payen, E. Fellous, M. Control of sex determination in animals.
Eur J Biochem.
1993; 218(3):
769-83.
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.
C R Acad Sci III.
1993; 316(4):
375-83.
Toublanc, J. E. 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.
Eur J Pediatr.
1993; 152 Suppl 2:
S70-5.
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.
1993; 52(2):
151-9.
McElreavey, K. Rappaport, R. Vilain, E. Abbas, N. Richaud, F. Lortat-Jacob, S. Berger, R. Le Coniat, M. Boucekkine, C. Kucheria, K. et al., A minority of 46,XX true hermaphrodites are positive for the Y-DNA sequence including SRY.
Hum Genet.
1992; 90(1-2):
121-5.
Vilain, E. McElreavey, K. Jaubert, F. Raymond, J. P. Richaud, F. Fellous, M. Familial case with sequence variant in the testis-determining region associated with two sex phenotypes.
Am J Hum Genet.
1992; 50(5):
1008-11.
Boucekkine, C. Toublanc, J. E. 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.
Horm Res.
1992; 37(6):
236-40.
McElreavey, K. D. Vilain, E. Boucekkine, C. Vidaud, M. Jaubert, F. Richaud, F. Fellous, M. XY sex reversal associated with a nonsense mutation in SRY.
Genomics.
1992; 13(3):
838-40.
McElreavy, K. Vilain, E. Abbas, N. Costa, J. M. Souleyreau, N. Kucheria, K. Boucekkine, C. Thibaud, E. Brauner, R. Flamant, F. et al., XY sex reversal associated with a deletion 5' to the SRY "HMG box" in the testis-determining region.
Proc Natl Acad Sci U S A.
1992; 89(22):
11016-20.
Vilain, E. McElreavey, K. Richaud, F. Fellous, M. [Isolation of the sex-determining gene in men].
Pathol Biol (Paris).
1992; 40(1):
15-7.
Vilain, E. McElreavey, K. M. Richaud, F. Fellous, M. [Sex genetics].
Presse Med.
1992; 21(18):
852-6.
Vilain, E. McElreavey, K. Vidaud, M. Richaud, F. Fellous, M. [The analysis of SRY doesn't explain all the pathology of sex determination].
Ann Endocrinol (Paris).
1991; 52(6):
435-6.
|
|
Disability Resources
