Fichou Y - Search Results

1

Cell cloning-based transcriptome analysis in Rett patients: relevance to the pathogenesis of Rett syndrome of new human MeCP2 target genes.

Nectoux J, Fichou Y, Rosas-Vargas H, Cagnard N, Bahi-Buisson N, Nusbaum P, Letourneur F, Chelly J, Bienvenu T. Nectoux J, et al. Among authors: fichou y. J Cell Mol Med. 2010 Jul;14(7):1962-74. doi: 10.1111/j.1582-4934.2010.01107.x. Epub 2010 Jun 21. J Cell Mol Med. 2010. PMID: 20569274 Free PMC article.

2

The first missense mutation causing Rett syndrome specifically affecting the MeCP2_e1 isoform.

Fichou Y, Nectoux J, Bahi-Buisson N, Rosas-Vargas H, Girard B, Chelly J, Bienvenu T. Fichou Y, et al. Neurogenetics. 2009 Apr;10(2):127-33. doi: 10.1007/s10048-008-0161-1. Epub 2008 Nov 26. Neurogenetics. 2009. PMID: 19034540

3

Cell cloning-based transcriptome analysis in cyclin-dependent kinase-like 5 mutation patients with severe epileptic encephalopathy.

Nectoux J, Fichou Y, Cagnard N, Bahi-Buisson N, Nusbaum P, Letourneur F, Chelly J, Bienvenu T. Nectoux J, et al. Among authors: fichou y. J Mol Med (Berl). 2011 Feb;89(2):193-202. doi: 10.1007/s00109-010-0699-x. Epub 2010 Nov 24. J Mol Med (Berl). 2011. PMID: 21107515

4

Revisiting the phenotype associated with FOXG1 mutations: two novel cases of congenital Rett variant.

Bahi-Buisson N, Nectoux J, Girard B, Van Esch H, De Ravel T, Boddaert N, Plouin P, Rio M, Fichou Y, Chelly J, Bienvenu T. Bahi-Buisson N, et al. Among authors: fichou y. Neurogenetics. 2010 May;11(2):241-9. doi: 10.1007/s10048-009-0220-2. Epub 2009 Oct 6. Neurogenetics. 2010. PMID: 19806373

5

A FOXG1 mutation in a boy with congenital variant of Rett syndrome.

Le Guen T, Bahi-Buisson N, Nectoux J, Boddaert N, Fichou Y, Diebold B, Desguerre I, Raqbi F, Daire VC, Chelly J, Bienvenu T. Le Guen T, et al. Among authors: fichou y. Neurogenetics. 2011 Feb;12(1):1-8. doi: 10.1007/s10048-010-0255-4. Epub 2010 Aug 24. Neurogenetics. 2011. PMID: 20734096 Review.

6

An isoform of the severe encephalopathy-related CDKL5 gene, including a novel exon with extremely high sequence conservation, is specifically expressed in brain.

Fichou Y, Nectoux J, Bahi-Buisson N, Chelly J, Bienvenu T. Fichou Y, et al. J Hum Genet. 2011 Jan;56(1):52-7. doi: 10.1038/jhg.2010.143. Epub 2010 Dec 2. J Hum Genet. 2011. PMID: 21124335

7

A missense mutation within the fork-head domain of the forkhead box G1 Gene (FOXG1) affects its nuclear localization.

Le Guen T, Fichou Y, Nectoux J, Bahi-Buisson N, Rivier F, Boddaert N, Diebold B, Héron D, Chelly J, Bienvenu T. Le Guen T, et al. Among authors: fichou y. Hum Mutat. 2011 Feb;32(2):E2026-35. doi: 10.1002/humu.21422. Epub 2010 Dec 7. Hum Mutat. 2011. PMID: 21280142

8

Epileptic encephalopathy in a girl with an interstitial deletion of Xp22 comprising promoter and exon 1 of the CDKL5 gene.

Bahi-Buisson N, Girard B, Gautier A, Nectoux J, Fichou Y, Saillour Y, Poirier K, Chelly J, Bienvenu T. Bahi-Buisson N, et al. Among authors: fichou y. Am J Med Genet B Neuropsychiatr Genet. 2010 Jan 5;153B(1):202-7. doi: 10.1002/ajmg.b.30974. Am J Med Genet B Neuropsychiatr Genet. 2010. PMID: 19455595

9

Somatic mosaicism for a CDKL5 mutation as an epileptic encephalopathy in males.

Masliah-Plachon J, Auvin S, Nectoux J, Fichou Y, Chelly J, Bienvenu T. Masliah-Plachon J, et al. Among authors: fichou y. Am J Med Genet A. 2010 Aug;152A(8):2110-1. doi: 10.1002/ajmg.a.33037. Am J Med Genet A. 2010. PMID: 20602487 No abstract available.

10

Mutation in the SLC9A6 gene is not a frequent cause of sporadic Angelman-like syndrome.

Fichou Y, Bahi-Buisson N, Nectoux J, Chelly J, Héron D, Cuisset L, Bienvenu T. Fichou Y, et al. Eur J Hum Genet. 2009 Nov;17(11):1378-80. doi: 10.1038/ejhg.2009.82. Epub 2009 May 27. Eur J Hum Genet. 2009. PMID: 19471312 Free PMC article. No abstract available.

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