Fontes M - Search Results

1

Spectrum of MECP2 mutations in Rett syndrome.

Bienvenu T, Villard L, De Roux N, Bourdon V, Fontes M, Beldjord C, Tardieu M, Jonveaux P, Chelly J; French Consortium for MECP2 Gene Analysis. Bienvenu T, et al. Among authors: fontes m. Genet Test. 2002 Spring;6(1):1-6. doi: 10.1089/109065702760093843. Genet Test. 2002. PMID: 12180070

2

MECP2 mutations account for most cases of typical forms of Rett syndrome.

Bienvenu T, Carrié A, de Roux N, Vinet MC, Jonveaux P, Couvert P, Villard L, Arzimanoglou A, Beldjord C, Fontes M, Tardieu M, Chelly J. Bienvenu T, et al. Among authors: fontes m. Hum Mol Genet. 2000 May 22;9(9):1377-84. doi: 10.1093/hmg/9.9.1377. Hum Mol Genet. 2000. PMID: 10814719

3

Segregation of a totally skewed pattern of X chromosome inactivation in four familial cases of Rett syndrome without MECP2 mutation: implications for the disease.

Villard L, Lévy N, Xiang F, Kpebe A, Labelle V, Chevillard C, Zhang Z, Schwartz CE, Tardieu M, Chelly J, Anvret M, Fontès M. Villard L, et al. Among authors: fontes m. J Med Genet. 2001 Jul;38(7):435-42. doi: 10.1136/jmg.38.7.435. J Med Genet. 2001. PMID: 11432961 Free PMC article.

4

Alpha-thalassemia/mental retardation syndrome, X-Linked (ATR-X, MIM #301040, ATR-X/XNP/XH2 gene MIM #300032).

Villard L, Fontes M. Villard L, et al. Among authors: fontes m. Eur J Hum Genet. 2002 Apr;10(4):223-5. doi: 10.1038/sj.ejhg.5200800. Eur J Hum Genet. 2002. PMID: 12032728 No abstract available.

5

Two affected boys in a Rett syndrome family: clinical and molecular findings.

Villard L, Kpebe A, Cardoso C, Chelly PJ, Tardieu PM, Fontes M. Villard L, et al. Among authors: fontes m. Neurology. 2000 Oct 24;55(8):1188-93. doi: 10.1212/wnl.55.8.1188. Neurology. 2000. PMID: 11071498

6

A point mutation in the XNP gene, associated with an ATR-X phenotype without alpha-thalassemia.

Villard L, Lacombe D, Fontés M. Villard L, et al. Among authors: fontes m. Eur J Hum Genet. 1996;4(6):316-20. doi: 10.1159/000472225. Eur J Hum Genet. 1996. PMID: 9043863

7

Characterization of xnp-1, a Caenorhabditis elegans gene similar to the human XNP/ATR-X gene.

Villard L, Fontès M, Ewbank JJ. Villard L, et al. Among authors: fontes m. Gene. 1999 Aug 5;236(1):13-9. doi: 10.1016/s0378-1119(99)00279-6. Gene. 1999. PMID: 10433961

8

Specific interaction between the XNP/ATR-X gene product and the SET domain of the human EZH2 protein.

Cardoso C, Timsit S, Villard L, Khrestchatisky M, Fontès M, Colleaux L. Cardoso C, et al. Among authors: fontes m. Hum Mol Genet. 1998 Apr;7(4):679-84. doi: 10.1093/hmg/7.4.679. Hum Mol Genet. 1998. PMID: 9499421

9

Linkage of X-linked myopathy with excessive autophagy (XMEA) to Xq28.

Villard L, des Portes V, Levy N, Louboutin JP, Recan D, Coquet M, Chabrol B, Figarella-Branger D, Chelly J, Pellissier JF, Fontes M. Villard L, et al. Among authors: fontes m. Eur J Hum Genet. 2000 Feb;8(2):125-9. doi: 10.1038/sj.ejhg.5200432. Eur J Hum Genet. 2000. PMID: 10757644

10

Construction of a YAC contig spanning the Xq13.3 subband.

Villard L, Gecz J, Colleaux L, Lossi AM, Chelly J, Ishikawa-Brush Y, Monaco AP, Fontes M. Villard L, et al. Among authors: fontes m. Genomics. 1995 Mar 1;26(1):115-22. doi: 10.1016/0888-7543(95)80089-5. Genomics. 1995. PMID: 7782069

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