Philippe C - Search Results

1

Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life.

Thevenon J, Milh M, Feillet F, St-Onge J, Duffourd Y, Jugé C, Roubertie A, Héron D, Mignot C, Raffo E, Isidor B, Wahlen S, Sanlaville D, Villeneuve N, Darmency-Stamboul V, Toutain A, Lefebvre M, Chouchane M, Huet F, Lafon A, de Saint Martin A, Lesca G, El Chehadeh S, Thauvin-Robinet C, Masurel-Paulet A, Odent S, Villard L, Philippe C, Faivre L, Rivière JB. Thevenon J, et al. Among authors: philippe c. Am J Hum Genet. 2014 Jul 3;95(1):113-20. doi: 10.1016/j.ajhg.2014.06.006. Am J Hum Genet. 2014. PMID: 24995870 Free PMC article.

2

Adrenoleukodystrophy: a complex chromosomal rearrangement in the Xq28 red/green-color-pigment gene region indicates two possible gene localizations.

Feil R, Aubourg P, Mosser J, Douar AM, Le Paslier D, Philippe C, Mandel JL. Feil R, et al. Among authors: philippe c. Am J Hum Genet. 1991 Dec;49(6):1361-71. Am J Hum Genet. 1991. PMID: 1746561 Free PMC article.

3

Hypomagnesemia with secondary hypocalcemia in a female with balanced X;9 translocation: mapping of the Xp22 chromosome breakpoint.

Chery M, Biancalana V, Philippe C, Malpuech G, Carla H, Gilgenkrantz S, Mandel JL, Hanauer A. Chery M, et al. Among authors: philippe c. Hum Genet. 1994 May;93(5):587-91. doi: 10.1007/BF00202829. Hum Genet. 1994. PMID: 8168840

4

Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses.

Philippe C, Porter DE, Emerton ME, Wells DE, Simpson AH, Monaco AP. Philippe C, et al. Am J Hum Genet. 1997 Sep;61(3):520-8. doi: 10.1086/515505. Am J Hum Genet. 1997. PMID: 9326317 Free PMC article.

5

A locus for autosomal dominant colobomatous microphthalmia maps to chromosome 15q12-q15.

Morlé L, Bozon M, Zech JC, Alloisio N, Raas-Rothschild A, Philippe C, Lambert JC, Godet J, Plauchu H, Edery P. Morlé L, et al. Among authors: philippe c. Am J Hum Genet. 2000 Dec;67(6):1592-7. doi: 10.1086/316894. Epub 2000 Oct 13. Am J Hum Genet. 2000. PMID: 11035633 Free PMC article.

6

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

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

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: philippe c. 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

10

The three stages of epilepsy in patients with CDKL5 mutations.

Bahi-Buisson N, Kaminska A, Boddaert N, Rio M, Afenjar A, Gérard M, Giuliano F, Motte J, Héron D, Morel MA, Plouin P, Richelme C, des Portes V, Dulac O, Philippe C, Chiron C, Nabbout R, Bienvenu T. Bahi-Buisson N, et al. Among authors: philippe c. Epilepsia. 2008 Jun;49(6):1027-37. doi: 10.1111/j.1528-1167.2007.01520.x. Epub 2008 Feb 7. Epilepsia. 2008. PMID: 18266744 Free article.

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