Vilain E - Search Results

1

Familial case with sequence variant in the testis-determining region associated with two sex phenotypes.

Vilain E, McElreavey K, Jaubert F, Raymond JP, Richaud F, Fellous M. Vilain E, et al. Am J Hum Genet. 1992 May;50(5):1008-11. Am J Hum Genet. 1992. PMID: 1570829 Free PMC article.

2

A minority of 46,XX true hermaphrodites are positive for the Y-DNA sequence including SRY.

McElreavey K, Rappaport R, Vilain E, Abbas N, Richaud F, Lortat-Jacob S, Berger R, Le Coniat M, Boucekkine C, Kucheria K, et al. McElreavey K, et al. Among authors: vilain e. Hum Genet. 1992 Sep-Oct;90(1-2):121-5. doi: 10.1007/BF00210754. Hum Genet. 1992. PMID: 1427767

3

[Sex genetics].

Vilain E, Elreavey KM, Richaud F, Fellous M. Vilain E, et al. Presse Med. 1992 May 16;21(18):852-6. Presse Med. 1992. PMID: 1535151 Review. French.

4

XY sex reversal associated with a nonsense mutation in SRY.

McElreavey KD, Vilain E, Boucekkine C, Vidaud M, Jaubert F, Richaud F, Fellous M. McElreavey KD, et al. Among authors: vilain e. Genomics. 1992 Jul;13(3):838-40. doi: 10.1016/0888-7543(92)90164-n. Genomics. 1992. PMID: 1639410

5

[The analysis of SRY doesn't explain all the pathology of sex determination].

Vilain E, McElreavey K, Vidaud M, Richaud F, Fellous M. Vilain E, et al. Ann Endocrinol (Paris). 1991;52(6):435-6. Ann Endocrinol (Paris). 1991. PMID: 1824496 French. No abstract available.

6

Familial case of 46,XX male and 46,XX true hermaphrodite associated with a paternal-derived SRY-bearing X chromosome.

Abbas N, McElreavey K, Leconiat M, Vilain E, Jaubert F, Berger R, Nihoul-Fekete C, Rappaport R, Fellous M. Abbas N, et al. Among authors: vilain e. C R Acad Sci III. 1993;316(4):375-83. C R Acad Sci III. 1993. PMID: 8402263

7

Pathology of 46,XY pure gonadal dysgenesis: absence of testis differentiation associated with mutations in the testis-determining factor.

Vilain E, Jaubert F, Fellous M, McElreavey K. Vilain E, et al. Differentiation. 1993 Jan;52(2):151-9. doi: 10.1111/j.1432-0436.1993.tb00625.x. Differentiation. 1993. PMID: 8472885

8

Proximal deletions of the long arm of the Y chromosome suggest a critical region associated with a specific subset of characteristic Turner stigmata.

Barbaux S, Vilain E, Raoul O, Gilgenkrantz S, Jeandidier E, Chadenas D, Souleyreau N, Fellous M, McElreavey K. Barbaux S, et al. Among authors: vilain e. Hum Mol Genet. 1995 Sep;4(9):1565-8. doi: 10.1093/hmg/4.9.1565. Hum Mol Genet. 1995. PMID: 8541840

9

Loss of sequences 3' to the testis-determining gene, SRY, including the Y pseudoautosomal boundary associated with partial testicular determination.

McElreavey K, Vilain E, Barbaux S, Fuqua JS, Fechner PY, Souleyreau N, Doco-Fenzy M, Gabriel R, Quereux C, Fellous M, Berkovitz GD. McElreavey K, et al. Among authors: vilain e. Proc Natl Acad Sci U S A. 1996 Aug 6;93(16):8590-4. doi: 10.1073/pnas.93.16.8590. Proc Natl Acad Sci U S A. 1996. PMID: 8710915 Free PMC article.

10

The sole presence of the testis-determining region of the Y chromosome (SRY) in 46,XX patients is associated with phenotypic variability.

Boucekkine C, Toublanc JE, Abbas N, Semrouni M, Vilain E, McElreavey K, Mugneret F, Fellous M. Boucekkine C, et al. Among authors: vilain e. Horm Res. 1992;37(6):236-40. doi: 10.1159/000182319. Horm Res. 1992. PMID: 1292977

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