Jonveaux P - Search Results

1

MEF2C mutations are a rare cause of Rett or severe Rett-like encephalopathies.

Lambert L, Bienvenu T, Allou L, Valduga M, Echenne B, Diebold B, Mignot C, Héron D, Roth V, Saunier A, Moustaïne A, Jonveaux P, Philippe C. Lambert L, et al. Among authors: jonveaux p. Clin Genet. 2012 Nov;82(5):499-501. doi: 10.1111/j.1399-0004.2012.01861.x. Epub 2012 Mar 26. Clin Genet. 2012. PMID: 22449245 No abstract available.

2

The signal transducer and activator of transcription STAT5b gene is a new partner of retinoic acid receptor alpha in acute promyelocytic-like leukaemia.

Arnould C, Philippe C, Bourdon V, Gr goire MJ, Berger R, Jonveaux P. Arnould C, et al. Among authors: jonveaux p. Hum Mol Genet. 1999 Sep;8(9):1741-9. doi: 10.1093/hmg/8.9.1741. Hum Mol Genet. 1999. PMID: 10441338

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

4

A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients.

Bourdon V, Philippe C, Labrune O, Amsallem D, Arnould C, Jonveaux P. Bourdon V, et al. Among authors: jonveaux p. Hum Genet. 2001 Jan;108(1):43-50. doi: 10.1007/s004390000422. Hum Genet. 2001. PMID: 11214906

5

Deletion screening by fluorescence in situ hybridization in Rett syndrome patients.

Bourdon V, Philippe C, Grandemenge A, Reichwald K, Jonveaux P. Bourdon V, et al. Among authors: jonveaux p. Ann Genet. 2001 Oct-Dec;44(4):191-4. doi: 10.1016/s0003-3995(01)01088-7. Ann Genet. 2001. PMID: 11755104

6

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: jonveaux p. 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.

7

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

8

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: jonveaux p. 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

9

The incidence of Rett syndrome in France.

Bienvenu T, Philippe C, De Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Feingold J, Chelly J, Villard L. Bienvenu T, et al. Among authors: jonveaux p. Pediatr Neurol. 2006 May;34(5):372-5. doi: 10.1016/j.pediatrneurol.2005.10.013. Pediatr Neurol. 2006. PMID: 16647997

10

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: jonveaux p. 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

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