Philippe C - Search Results

1

Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features.

Miguet M, Faivre L, Amiel J, Nizon M, Touraine R, Prieur F, Pasquier L, Lefebvre M, Thevenon J, Dubourg C, Julia S, Sarret C, Remerand G, Francannet C, Laffargue F, Boespflug-Tanguy O, David A, Isidor B, Vigneron J, Leheup B, Lambert L, Philippe C, Béri-Dexheimer M, Cuisset JM, Andrieux J, Plessis G, Toutain A, Guibaud L, Cormier-Daire V, Rio M, Bonnefont JP, Echenne B, Journel H, Burglen L, Chantot-Bastaraud S, Bienvenu T, Baumann C, Perrin L, Drunat S, Jouk PS, Dieterich K, Devillard F, Lacombe D, Philip N, Sigaudy S, Moncla A, Missirian C, Badens C, Perreton N, Thauvin-Robinet C, AChro-Puce R, Pedespan JM, Rooryck C, Goizet C, Vincent-Delorme C, Duban-Bedu B, Bahi-Buisson N, Afenjar A, Maincent K, Héron D, Alessandri JL, Martin-Coignard D, Lesca G, Rossi M, Raynaud M, Callier P, Mosca-Boidron AL, Marle N, Coutton C, Satre V, Caignec CL, Malan V, Romana S, Keren B, Tabet AC, Kremer V, Scheidecker S, Vigouroux A, Lackmy-Port-Lis M, Sanlaville D, Till M, Carneiro M, Gilbert-Dussardier B, Willems M, Van Esch H, Portes VD, El Chehadeh S. Miguet M, et al. Among authors: philippe c. J Med Genet. 2018 Jun;55(6):359-371. doi: 10.1136/jmedgenet-2017-104956. Epub 2018 Apr 4. J Med Genet. 2018. PMID: 29618507 Free article.

2

Linkage study in a large pedigree with Stickler syndrome: exclusion of COL2A1 as the mutant gene.

Bonaventure J, Philippe C, Plessis G, Vigneron J, Lasselin C, Maroteaux P, Gilgenkrantz S. Bonaventure J, et al. Among authors: philippe c. Hum Genet. 1992 Sep-Oct;90(1-2):164-8. doi: 10.1007/BF00210766. Hum Genet. 1992. PMID: 1358786

3

Characterisation of an inverted X chromosome (p11.2q21.3) associated with mental retardation using FISH.

Sloan-Béna F, Philippe C, LeHeup B, Wuilque F, Levy ER, Chéry M, Jonveaux P, Monaco AP. Sloan-Béna F, et al. Among authors: philippe c. J Med Genet. 1998 Feb;35(2):146-50. doi: 10.1136/jmg.35.2.146. J Med Genet. 1998. PMID: 9507395 Free PMC article.

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: philippe c. Hum Genet. 2001 Jan;108(1):43-50. doi: 10.1007/s004390000422. Hum Genet. 2001. PMID: 11214906

5

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: philippe c. 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.

6

Characterization of mosaic supernumerary ring chromosomes by array-CGH: segmental aneusomy for proximal 4q in a child with tall stature and obesity.

Bonnet C, Zix C, Grégoire MJ, Brochet K, Duc M, Rousselet F, Philippe C, Jonveaux P. Bonnet C, et al. Among authors: philippe c. Am J Med Genet A. 2006 Feb 1;140(3):233-7. doi: 10.1002/ajmg.a.31075. Am J Med Genet A. 2006. PMID: 16411200

7

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. 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

8

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: philippe c. Pediatr Neurol. 2006 May;34(5):372-5. doi: 10.1016/j.pediatrneurol.2005.10.013. Pediatr Neurol. 2006. PMID: 16647997

9

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: philippe c. 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

10

Screening of subtle copy number changes in Aicardi syndrome patients with a high resolution X chromosome array-CGH.

Yilmaz S, Fontaine H, Brochet K, Grégoire MJ, Devignes MD, Schaff JL, Philippe C, Nemos C, McGregor JL, Jonveaux P. Yilmaz S, et al. Among authors: philippe c. Eur J Med Genet. 2007 Sep-Oct;50(5):386-91. doi: 10.1016/j.ejmg.2007.05.006. Epub 2007 Jun 7. Eur J Med Genet. 2007. PMID: 17625997

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