Publications:
A selected list of publications:
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,
Urol Oncol,
2007; 25: 141-6:
.
Nikolova G, Sinsheimer J, Vilain E
Region on mouse chromosome 11 provides protection from sex reversal in a C57BL/6JYpos Congenic Strain,
Genetics,
2008; 179: 419-427:
.
Kerkel K, Spadola A, Yuan E, Kosek J, Jiang L, Hod E, Li K, Murty VV, Vilain E, Morris M, Haghighi F, Tycko B
Genome-wide surveys by MSNP show allele-specific DNA methylation tracking with single-nucleotide polymorphisms,
Nature Genetics,
2008; 40: 904-908:
.
Miousse ER, Watkins D, Lavallee J, Coelho D, Clarke JTR, Crombez E, Vilain E, Cederbaum S, Berstein J, Cowan T, Enns BM, Fowler B, Rosenblatt D
Clinical and genetic findings in patients with the cblD inborn error of cobalamin metabolism,
J Pediatrics,
2008; in press:
.
Hare, L., Bernard, P., Sanchez, F. J., Vilain, E., Kennedy, T., & Harley, V.
Androgen receptor (AR) repeat length polymorphism associated with male-to-female transsexualism
Biological Psychiatry,
2009; 65: 93-96:
.
Arboleda Valerie A, Lee Hane, Parnaik Rahul, Fleming Alice, Banerjee Abhik, Ferraz-de-Souza Bruno, Délot Emmanuèle C, Rodriguez-Fernandez Imilce A, Braslavsky Debora, Bergadá Ignacio, Dell'angelica Esteban C, Nelson Stanley F, Martinez-Agosto Julian A, Achermann John C, Vilain Eric
Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome
Nature genetics,
2012;
.
White Stefan, Ohnesorg Thomas, Notini Amanda, Roeszler Kelly, Hewitt Jacqueline, Daggag Hinda, Smith Craig, Turbitt Erin, Gustin Sonja, van den Bergen Jocelyn, Miles Denise, Western Patrick, Arboleda Valerie, Schumacher Valerie, Gordon Lavinia, Bell Katrina, Bengtsson Henrik, Speed Terry, Hutson John, Warne Garry, Harley Vincent, Koopman Peter, Vilain Eric, Sinclair Andrew
Copy number variation in patients with disorders of sex development
due to 46,XY gonadal dysgenesis
PloS one,
2011; 6(3):
e17793.
Bocklandt Sven, Lin Wen, Sehl Mary E, Sánchez Francisco J, Sinsheimer Janet S, Horvath Steve, Vilain Eric
Epigenetic predictor of age
PloS one,
2011; 6(6):
e14821.
Sutton Edwina, Hughes James, White Stefan, Sekido Ryohei, Tan Jacqueline, Arboleda Valerie, Rogers Nicholas, Knower Kevin, Rowley Lynn, Eyre Helen, Rizzoti Karine, McAninch Dale, Goncalves Joao, Slee Jennie, Turbitt Erin, Bruno Damien, Bengtsson Henrik, Harley Vincent, Vilain Eric, Sinclair Andrew, Lovell-Badge Robin, Thomas Paul
Identification of SOX3 as an XX male sex reversal gene in mice and
humans
The Journal of clinical investigation,
2011; 121(1):
328-41.
Miousse Isabelle R, Watkins David, Coelho David, Rupar Tony, Crombez Eric A, Vilain Eric, Bernstein Jonathan A, Cowan Tina, Lee-Messer Christopher, Enns Gregory M, Fowler Brian, Rosenblatt David S
Clinical and molecular heterogeneity in patients with the cblD inborn
error of cobalamin metabolism
The Journal of pediatrics,
2009; 154(4):
551-6.
Kerkel Kristi, Spadola Alexandra, Yuan Eric, Kosek Jolanta, Jiang Le, Hod Eldad, Li Kerry, Murty Vundavalli V, Schupf Nicole, Vilain Eric, Morris Mitzi, Haghighi Fatemeh, Tycko Benjamin
Genomic surveys by methylation-sensitive SNP analysis identify
sequence-dependent allele-specific DNA methylation
Nature genetics,
2008; 40(7):
904-8.
Vilain Eric, Achermann John C, Eugster Erica A, Harley Vincent R, Morel Yves, Wilson Jean D, Hiort Olaf
We used to call them hermaphrodites
Genetics in medicine : official journal of the American College of Medical Genetics,
2007; 9(2):
65-6.
Bernard Pascal, Ludbrook Louisa, Queipo Gloria, Dinulos Mary-Beth, Kletter Gad B, Zhang Yao-Hua, Phelan James K, McCabe Edward R B, Harley Vincent R, Vilain Eric
A familial missense mutation in the hinge region of DAX1 associated
with late-onset AHC in a prepubertal female
Molecular genetics and metabolism,
2006; 88(3):
272-9.
Dewing Phoebe, Chiang Charleston W K, Sinchak Kevin, Sim Helena, Fernagut Pierre-Olivier, Kelly Sabine, Chesselet Marie-Francoise, Micevych Paul E, Albrecht Kenneth H, Harley Vincent R, Vilain Eric
Direct regulation of adult brain function by the male-specific factor
SRY
Current biology : CB,
2006; 16(4):
415-20.
Keegan Catherine E, Vilain Eric, Mohammed Mansoor, Lehoczky Jessica, Dobyns William B, Archer Steven M, Innis Jeffrey W
Microcephaly, jejunal atresia, aberrant right bronchus, ocular
anomalies, and XY sex reversal
American journal of medical genetics. Part A,
2004; 125A(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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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. M. Richaud, F. Fellous, M.
[Sex genetics]
Presse Med,
1992; 21(18):
852-6.