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410 results

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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: ville d. Brain. 2008 Oct;131(Pt 10):2647-61. doi: 10.1093/brain/awn197. Epub 2008 Sep 12. Brain. 2008. PMID: 18790821
[Epilepsy in chromosome aberrations].
Bahi-Buisson N, Ville D, Eisermann M, Plouin P, Kaminska A, Chiron C. Bahi-Buisson N, et al. Among authors: ville d. Arch Pediatr. 2005 Apr;12(4):449-58. doi: 10.1016/j.arcped.2004.12.016. Arch Pediatr. 2005. PMID: 15808438 Review. French.
Early pattern of epilepsy in the ring chromosome 20 syndrome.
Ville D, Kaminska A, Bahi-Buisson N, Biraben A, Plouin P, Telvi L, Dulac O, Chiron C. Ville D, et al. Epilepsia. 2006 Mar;47(3):543-9. doi: 10.1111/j.1528-1167.2006.00465.x. Epilepsia. 2006. PMID: 16529619 Free article.
Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A).
Poirier K, Keays DA, Francis F, Saillour Y, Bahi N, Manouvrier S, Fallet-Bianco C, Pasquier L, Toutain A, Tuy FP, Bienvenu T, Joriot S, Odent S, Ville D, Desguerre I, Goldenberg A, Moutard ML, Fryns JP, van Esch H, Harvey RJ, Siebold C, Flint J, Beldjord C, Chelly J. Poirier K, et al. Among authors: ville d. Hum Mutat. 2007 Nov;28(11):1055-64. doi: 10.1002/humu.20572. Hum Mutat. 2007. PMID: 17584854
[Diagnostic investigations for an unexplained developmental disability].
Verloes A, Héron D, Billette de Villemeur T, Afenjar A, Baumann C, Bahi-Buisson N, Charles P, Faudet A, Jacquette A, Mignot C, Moutard ML, Passemard S, Rio M, Robel L, Rougeot C, Ville D, Burglen L, des Portes V; Réseau DéfiScience. Verloes A, et al. Among authors: ville d. Arch Pediatr. 2012 Feb;19(2):194-207. doi: 10.1016/j.arcped.2011.11.014. Epub 2012 Jan 14. Arch Pediatr. 2012. PMID: 22245660 French.
Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2.
Milh M, Boutry-Kryza N, Sutera-Sardo J, Mignot C, Auvin S, Lacoste C, Villeneuve N, Roubertie A, Heron B, Carneiro M, Kaminska A, Altuzarra C, Blanchard G, Ville D, Barthez MA, Heron D, Gras D, Afenjar A, Dorison N, Doummar D, Billette de Villemeur T, An I, Jacquette A, Charles P, Perrier J, Isidor B, Vercueil L, Chabrol B, Badens C, Lesca G, Villard L. Milh M, et al. Among authors: ville d. Orphanet J Rare Dis. 2013 May 22;8:80. doi: 10.1186/1750-1172-8-80. Orphanet J Rare Dis. 2013. PMID: 23692823 Free PMC article.
410 results