Bahi-Buisson N - Search Results

1

Mosaic parental germline mutations causing recurrent forms of malformations of cortical development.

Zillhardt JL, Poirier K, Broix L, Lebrun N, Elmorjani A, Martinovic J, Saillour Y, Muraca G, Nectoux J, Bessieres B, Fallet-Bianco C, Lyonnet S, Dulac O, Odent S, Rejeb I, Ben Jemaa L, Rivier F, Pinson L, Geneviève D, Musizzano Y, Bigi N, Leboucq N, Giuliano F, Philip N, Vilain C, Van Bogaert P, Maurey H, Beldjord C, Artiguenave F, Boland A, Olaso R, Masson C, Nitschké P, Deleuze JF, Bahi-Buisson N, Chelly J. Zillhardt JL, et al. Eur J Hum Genet. 2016 Apr;24(4):611-4. doi: 10.1038/ejhg.2015.192. Epub 2015 Sep 23. Eur J Hum Genet. 2016. PMID: 26395554 Free PMC article.

2

The nonmalformed hemisphere is secondarily impaired in young children with hemimegalencephaly: a pre- and postsurgery study with SPECT and EEG.

Soufflet C, Bulteau C, Delalande O, Pinton F, Jalin C, Plouin P, Bahi-Buisson N, Dulac O, Chiron C. Soufflet C, et al. Epilepsia. 2004 Nov;45(11):1375-82. doi: 10.1111/j.0013-9580.2004.66003.x. Epilepsia. 2004. PMID: 15509238 Free article.

3

Misleading effects of clonazepam in symptomatic electrical status epilepticus during sleep syndrome.

Bahi-Buisson N, Savini R, Eisermann M, Bulteau C, Dulac O, Hertz-Pannier L, Chiron C. Bahi-Buisson N, et al. Pediatr Neurol. 2006 Feb;34(2):146-50. doi: 10.1016/j.pediatrneurol.2005.08.014. Pediatr Neurol. 2006. PMID: 16458830

4

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.

5

[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.

6

New locus for febrile seizures with absence epilepsy on 3p and a possible modifier gene on 18p.

Nabbout R, Baulac S, Desguerre I, Bahi-Buisson N, Chiron C, Ruberg M, Dulac O, LeGuern E. Nabbout R, et al. Neurology. 2007 Apr 24;68(17):1374-81. doi: 10.1212/01.wnl.0000260062.02829.e3. Neurology. 2007. PMID: 17452582

7

Parental view of epilepsy in Rett Syndrome.

Bahi-Buisson N, Guellec I, Nabbout R, Guet A, Nguyen G, Dulac O, Chiron C. Bahi-Buisson N, et al. Brain Dev. 2008 Feb;30(2):126-30. doi: 10.1016/j.braindev.2007.07.002. Epub 2007 Aug 17. Brain Dev. 2008. PMID: 17707604

8

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

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. 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

Unusual magnetic resonance imaging features in Menkes disease.

Barnerias C, Boddaert N, Guiraud P, Desguerre I, Hertz Pannier L, Dulac O, de Lonlay P, Bahi Buisson N. Barnerias C, et al. Brain Dev. 2008 Aug;30(7):489-92. doi: 10.1016/j.braindev.2007.12.014. Epub 2008 Feb 19. Brain Dev. 2008. PMID: 18243619

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