Bahi-Buisson N - Search Results

1

Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia.

Broix L, Jagline H, Ivanova E, Schmucker S, Drouot N, Clayton-Smith J, Pagnamenta AT, Metcalfe KA, Isidor B, Louvier UW, Poduri A, Taylor JC, Tilly P, Poirier K, Saillour Y, Lebrun N, Stemmelen T, Rudolf G, Muraca G, Saintpierre B, Elmorjani A; Deciphering Developmental Disorders study; Moïse M, Weirauch NB, Guerrini R, Boland A, Olaso R, Masson C, Tripathy R, Keays D, Beldjord C, Nguyen L, Godin J, Kini U, Nischké P, Deleuze JF, Bahi-Buisson N, Sumara I, Hinckelmann MV, Chelly J. Broix L, et al. Nat Genet. 2016 Nov;48(11):1349-1358. doi: 10.1038/ng.3676. Epub 2016 Oct 3. Nat Genet. 2016. PMID: 27694961 Free PMC article.

2

[Update on the genetics of X-linked mental retardation].

Bahi-Buisson N, Chelly J, des Portes V. Bahi-Buisson N, et al. Rev Neurol (Paris). 2006 Oct;162(10):952-63. doi: 10.1016/s0035-3787(06)75105-0. Rev Neurol (Paris). 2006. PMID: 17028563 Review. French.

3

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

4

Combination of infantile spasms, non-epileptic seizures and complex movement disorder: a new case of ARX-related epilepsy.

Poirier K, Eisermann M, Caubel I, Kaminska A, Peudonnier S, Boddaert N, Saillour Y, Dulac O, Souville I, Beldjord C, Lascelles K, Plouin P, Chelly J, Bahi-Buisson N. Poirier K, et al. Epilepsy Res. 2008 Aug;80(2-3):224-8. doi: 10.1016/j.eplepsyres.2008.03.019. Epub 2008 May 12. Epilepsy Res. 2008. PMID: 18468866

5

A novel splice mutation in PAK3 gene underlying mental retardation with neuropsychiatric features.

Rejeb I, Saillour Y, Castelnau L, Julien C, Bienvenu T, Taga P, Chaabouni H, Chelly J, Ben Jemaa L, Bahi-Buisson N. Rejeb I, et al. Eur J Hum Genet. 2008 Nov;16(11):1358-63. doi: 10.1038/ejhg.2008.103. Epub 2008 Jun 4. Eur J Hum Genet. 2008. PMID: 18523455

6

The location of DCX mutations predicts malformation severity in X-linked lissencephaly.

Leger PL, Souville I, Boddaert N, Elie C, Pinard JM, Plouin P, Moutard ML, des Portes V, Van Esch H, Joriot S, Renard JL, Chelly J, Francis F, Beldjord C, Bahi-Buisson N. Leger PL, et al. Neurogenetics. 2008 Oct;9(4):277-85. doi: 10.1007/s10048-008-0141-5. Epub 2008 Aug 7. Neurogenetics. 2008. PMID: 18685874

7

Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations.

Bahi-Buisson N, Poirier K, Boddaert N, Saillour Y, Castelnau L, Philip N, Buyse G, Villard L, Joriot S, Marret S, Bourgeois M, Van Esch H, Lagae L, Amiel J, Hertz-Pannier L, Roubertie A, Rivier F, Pinard JM, Beldjord C, Chelly J. Bahi-Buisson N, et al. J Med Genet. 2008 Oct;45(10):647-53. doi: 10.1136/jmg.2008.058073. Epub 2008 Aug 26. J Med Genet. 2008. PMID: 18728072

8

[Epileptogenic brain malformations: radiological and clinical presentation and indications for genetic testing].

Bahi-Buisson N, Boddaert N, Saillour Y, Souville I, Poirier K, Léger PL, Castelnau L, Plouin P, Carion N, Beldjord C, Chelly J. Bahi-Buisson N, et al. Rev Neurol (Paris). 2008 Dec;164(12):995-1009. doi: 10.1016/j.neurol.2008.04.006. Epub 2008 Jun 9. Rev Neurol (Paris). 2008. PMID: 18808783 Review. French.

9

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

10

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. 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

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