Bienvenu T - Search Results

1

Validation of high-resolution DNA melting analysis for mutation scanning of the CDKL5 gene: identification of novel mutations.

Raymond L, Diebold B, Leroux C, Maurey H, Drouin-Garraud V, Delahaye A, Dulac O, Metreau J, Melikishvili G, Toutain A, Rivier F, Bahi-Buisson N, Bienvenu T. Raymond L, et al. Among authors: bienvenu t. Gene. 2013 Jan 1;512(1):70-5. doi: 10.1016/j.gene.2012.09.056. Epub 2012 Oct 11. Gene. 2013. PMID: 23064044

2

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

3

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.

4

Mutation analysis of the BOULE gene in men with non-obstructive azoospermia: identification of a novel polymorphic variant in the black population.

Lepretre AC, Patrat C, Jouannet P, Bienvenu T. Lepretre AC, et al. Among authors: bienvenu t. Int J Androl. 2004 Oct;27(5):301-3. doi: 10.1111/j.1365-2605.2004.00464.x. Int J Androl. 2004. PMID: 15379971

5

Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update.

Philippe C, Villard L, De Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T. Philippe C, et al. Among authors: bienvenu t. Eur J Med Genet. 2006 Jan-Feb;49(1):9-18. doi: 10.1016/j.ejmg.2005.04.003. Eur J Med Genet. 2006. PMID: 16473305

6

Maternal origin of a novel C-terminal truncation mutation in CDKL5 causing a severe atypical form of Rett syndrome.

Nectoux J, Heron D, Tallot M, Chelly J, Bienvenu T. Nectoux J, et al. Among authors: bienvenu t. Clin Genet. 2006 Jul;70(1):29-33. doi: 10.1111/j.1399-0004.2006.00629.x. Clin Genet. 2006. PMID: 16813600

7

Deleterious mutations in exon 1 of MECP2 in Rett syndrome.

Quenard A, Yilmaz S, Fontaine H, Bienvenu T, Moncla A, des Portes V, Rivier F, Mathieu M, Raux G, Jonveaux P, Philippe C. Quenard A, et al. Among authors: bienvenu t. Eur J Med Genet. 2006 Jul-Aug;49(4):313-22. doi: 10.1016/j.ejmg.2005.11.002. Epub 2005 Dec 20. Eur J Med Genet. 2006. PMID: 16829352

8

Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A).

Poirier K, Keays DA, Francis F, Saillour Y, Bahi N, Manouvrier S, Fallet-Bianco C, Pasquier L, Toutain A, Tuy FP, Bienvenu T, Joriot S, Odent S, Ville D, Desguerre I, Goldenberg A, Moutard ML, Fryns JP, van Esch H, Harvey RJ, Siebold C, Flint J, Beldjord C, Chelly J. Poirier K, et al. Among authors: bienvenu t. Hum Mutat. 2007 Nov;28(11):1055-64. doi: 10.1002/humu.20572. Hum Mutat. 2007. PMID: 17584854

9

Netrin G1 mutations are an uncommon cause of atypical Rett syndrome with or without epilepsy.

Nectoux J, Girard B, Bahi-Buisson N, Prieur F, Afenjar A, Rosas-Vargas H, Chelly J, Bienvenu T. Nectoux J, et al. Among authors: bienvenu t. Pediatr Neurol. 2007 Oct;37(4):270-4. doi: 10.1016/j.pediatrneurol.2007.06.002. Pediatr Neurol. 2007. PMID: 17903671

10

Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy.

Rosas-Vargas H, Bahi-Buisson N, Philippe C, Nectoux J, Girard B, N'Guyen Morel MA, Gitiaux C, Lazaro L, Odent S, Jonveaux P, Chelly J, Bienvenu T. Rosas-Vargas H, et al. Among authors: bienvenu t. J Med Genet. 2008 Mar;45(3):172-8. doi: 10.1136/jmg.2007.053504. Epub 2007 Nov 9. J Med Genet. 2008. PMID: 17993579

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