Bienvenu T - Search Results

1

Key clinical features to identify girls with CDKL5 mutations.

Bahi-Buisson N, Nectoux J, Rosas-Vargas H, Milh M, Boddaert N, Girard B, Cances C, Ville D, Afenjar A, Rio M, Héron D, N'guyen Morel MA, Arzimanoglou A, Philippe C, Jonveaux P, Chelly J, Bienvenu T. Bahi-Buisson N, et al. Among authors: bienvenu t. Brain. 2008 Oct;131(Pt 10):2647-61. doi: 10.1093/brain/awn197. Epub 2008 Sep 12. Brain. 2008. PMID: 18790821

2

Analysis of alternative splicing patterns in the cystic fibrosis transmembrane conductance regulator gene using mRNA derived from lymphoblastoid cells of cystic fibrosis patients.

Bienvenu T, Beldjord C, Chelly J, Fonknechten N, Hubert D, Dusser D, Kaplan JC. Bienvenu T, et al. Eur J Hum Genet. 1996;4(3):127-34. doi: 10.1159/000472186. Eur J Hum Genet. 1996. PMID: 8840112

3

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. Hum Mol Genet. 2000 May 22;9(9):1377-84. doi: 10.1093/hmg/9.9.1377. Hum Mol Genet. 2000. PMID: 10814719

4

Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardation.

Bienvenu T, des Portes V, McDonell N, Carrié A, Zemni R, Couvert P, Ropers HH, Moraine C, van Bokhoven H, Fryns JP, Allen K, Walsh CA, Boué J, Kahn A, Chelly J, Beldjord C. Bienvenu T, et al. Am J Med Genet. 2000 Aug 14;93(4):294-8. doi: 10.1002/1096-8628(20000814)93:4<294::aid-ajmg8>3.0.co;2-f. Am J Med Genet. 2000. PMID: 10946356

5

Parental origin of de novo MECP2 mutations in Rett syndrome.

Girard M, Couvert P, Carrié A, Tardieu M, Chelly J, Beldjord C, Bienvenu T. Girard M, et al. Among authors: bienvenu t. Eur J Hum Genet. 2001 Mar;9(3):231-6. doi: 10.1038/sj.ejhg.5200618. Eur J Hum Genet. 2001. PMID: 11313764

6

No mutations in the coding region of the Rett syndrome gene MECP2 in 59 autistic patients.

Vourc'h P, Bienvenu T, Beldjord C, Chelly J, Barthélémy C, Müh JP, Andres C. Vourc'h P, et al. Among authors: bienvenu t. Eur J Hum Genet. 2001 Jul;9(7):556-8. doi: 10.1038/sj.ejhg.5200660. Eur J Hum Genet. 2001. PMID: 11464249

7

Five novel frameshift mutations in exon 3 and 4 of the MECP2 gene identified in Rett patients: Consequences for the molecular diagnosis strategy.

Bienvenu T, Souville I, Poirier K, Aquaviva C, Burglen L, Amiel J, Héron B, Kaminska A, Couvert P, Beldjord C, Chelly J. Bienvenu T, et al. Hum Mutat. 2001 Sep;18(3):251-2. doi: 10.1002/humu.1182. Hum Mutat. 2001. PMID: 11524737

8

Evidence of somatic mosaicism for a MECP2 mutation in females with Rett syndrome: diagnostic implications.

Bourdon V, Philippe C, Bienvenu T, Koenig B, Tardieu M, Chelly J, Jonveaux P. Bourdon V, et al. Among authors: bienvenu t. J Med Genet. 2001 Dec;38(12):867-71. doi: 10.1136/jmg.38.12.867. J Med Genet. 2001. PMID: 11768391 Free PMC article. No abstract available.

9

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. Genet Test. 2002 Spring;6(1):1-6. doi: 10.1089/109065702760093843. Genet Test. 2002. PMID: 12180070

10

DHPLC-based method for DNA methylation analysis of differential methylated regions from imprinted genes.

Couvert P, Poirier K, Carrié A, Chalas C, Jouannet P, Beldjord C, Bienvenu T, Chelly J, Kerjean A. Couvert P, et al. Among authors: bienvenu t. Biotechniques. 2003 Feb;34(2):356-62. doi: 10.2144/03342rr06. Biotechniques. 2003. PMID: 12613258 Free article.

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