Chelly J - Search Results

1

Key clinical features to identify girls with CDKL5 mutations.

Bahi-Buisson N, Nectoux J, Rosas-Vargas H, Milh M, Boddaert N, Girard B, Cances C, Ville D, Afenjar A, Rio M, Héron D, N'guyen Morel MA, Arzimanoglou A, Philippe C, Jonveaux P, Chelly J, Bienvenu T. Bahi-Buisson N, et al. Among authors: chelly j. Brain. 2008 Oct;131(Pt 10):2647-61. doi: 10.1093/brain/awn197. Epub 2008 Sep 12. Brain. 2008. PMID: 18790821

2

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: chelly j. 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

3

CDKL5 and ARX mutations are not responsible for early onset severe myoclonic epilepsy in infancy.

Nabbout R, Depienne C, Chipaux M, Girard B, Souville I, Trouillard O, Dulac O, Chelly J, Afenjar A, Héron D, Leguern E, Beldjord C, Bienvenu T, Bahi-Buisson N. Nabbout R, et al. Among authors: chelly j. Epilepsy Res. 2009 Nov;87(1):25-30. doi: 10.1016/j.eplepsyres.2009.07.004. Epub 2009 Sep 5. Epilepsy Res. 2009. PMID: 19734009

4

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. Among authors: chelly j. 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

5

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: chelly j. Clin Genet. 2006 Jul;70(1):29-33. doi: 10.1111/j.1399-0004.2006.00629.x. Clin Genet. 2006. PMID: 16813600

6

Molecular genetics of Rett syndrome: when DNA methylation goes unrecognized.

Bienvenu T, Chelly J. Bienvenu T, et al. Among authors: chelly j. Nat Rev Genet. 2006 Jun;7(6):415-26. doi: 10.1038/nrg1878. Nat Rev Genet. 2006. PMID: 16708070 Review.

7

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: chelly j. Pediatr Neurol. 2007 Oct;37(4):270-4. doi: 10.1016/j.pediatrneurol.2007.06.002. Pediatr Neurol. 2007. PMID: 17903671

8

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. Among authors: chelly j. Neurogenetics. 2009 Apr;10(2):127-33. doi: 10.1007/s10048-008-0161-1. Epub 2008 Nov 26. Neurogenetics. 2009. PMID: 19034540

9

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: chelly j. Neurogenetics. 2010 May;11(2):241-9. doi: 10.1007/s10048-009-0220-2. Epub 2009 Oct 6. Neurogenetics. 2010. PMID: 19806373

10

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: chelly j. 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.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

669 results

Search Page

Filters