Billuart P - Search Results

1

Altered microtubule dynamics and vesicular transport in mouse and human MeCP2-deficient astrocytes.

Delépine C, Meziane H, Nectoux J, Opitz M, Smith AB, Ballatore C, Saillour Y, Bennaceur-Griscelli A, Chang Q, Williams EC, Dahan M, Duboin A, Billuart P, Herault Y, Bienvenu T. Delépine C, et al. Among authors: billuart p. Hum Mol Genet. 2016 Jan 1;25(1):146-57. doi: 10.1093/hmg/ddv464. Epub 2015 Nov 24. Hum Mol Genet. 2016. PMID: 26604147 Free PMC article.

2

Identification by STS PCR screening of a microdeletion in Xp21.3-22.1 associated with non-specific mental retardation.

Billuart P, Vinet MC, des Portes V, Llense S, Richard L, Moutard ML, Recan D, Brüls T, Bienvenu T, Kahn A, Beldjord C, Chelly J. Billuart P, et al. Hum Mol Genet. 1996 Jul;5(7):977-9. doi: 10.1093/hmg/5.7.977. Hum Mol Genet. 1996. PMID: 8817333

3

X-linked neurodegenerative syndrome with congenital ataxia, late-onset progressive myoclonic encephalopathy and selective macular degeneration, linked to Xp22.33-pter.

des Portes V, Bachner L, Brüls T, Beldjord C, Billuart P, Soufir N, Bienvenu T, Vinet MC, Malaspina E, Marchiani V, Bertini E, Kahn A, Franzoni E, Chelly J. des Portes V, et al. Among authors: billuart p. Am J Med Genet. 1996 Jul 12;64(1):69-72. doi: 10.1002/(SICI)1096-8628(19960712)64:1<69::AID-AJMG10>3.0.CO;2-Q. Am J Med Genet. 1996. PMID: 8826451

4

A gene for dominant nonspecific X-linked mental retardation is located in Xq28.

des Portes V, Billuart P, Carrié A, Bachner L, Bienvenu T, Vinet MC, Beldjord C, Ponsot G, Kahn A, Boué J, Chelly J. des Portes V, et al. Among authors: billuart p. Am J Hum Genet. 1997 Apr;60(4):903-9. Am J Hum Genet. 1997. PMID: 9106537 Free PMC article.

5

Mapping of the X-breakpoint involved in a balanced X;12 translocation in a female with mild mental retardation.

Bienvenu T, Der-Sarkissian H, Billuart P, Tissot M, Des Portes V, Brüls T, Chabrolle JP, Chauveau P, Cherry M, Kahn A, Cohen D, Beldjord C, Chelly J, Cherif D. Bienvenu T, et al. Among authors: billuart p. Eur J Hum Genet. 1997 Mar-Apr;5(2):105-9. Eur J Hum Genet. 1997. PMID: 9195162

6

Gene for nonspecific X-linked mental retardation (MRX 47) is located in Xq22.3-q24.

des Portes V, Soufir N, Carrié A, Billuart P, Bienvenu T, Vinet MC, Beldjord C, Ponsot G, Kahn A, Boué J, Chelly J. des Portes V, et al. Among authors: billuart p. Am J Med Genet. 1997 Oct 31;72(3):324-8. doi: 10.1002/(sici)1096-8628(19971031)72:3<324::aid-ajmg14>3.0.co;2-v. Am J Med Genet. 1997. PMID: 9332663

7

Inherited microdeletion in Xp21.3-22.1 involved in non-specific mental retardation.

des Portes V, Carrié A, Billuart P, Kieffer V, Bienvenu T, Vinet MC, Beldjord C, Kahn A, Ponsot G, Chelly J, Moutard ML. des Portes V, et al. Among authors: billuart p. Clin Genet. 1998 Feb;53(2):136-41. doi: 10.1111/j.1399-0004.1998.tb02661.x. Clin Genet. 1998. PMID: 9611075

8

Non-specific X-linked semidominant mental retardation by mutations in a Rab GDP-dissociation inhibitor.

Bienvenu T, des Portes V, Saint Martin A, McDonell N, Billuart P, Carrié A, Vinet MC, Couvert P, Toniolo D, Ropers HH, Moraine C, van Bokhoven H, Fryns JP, Kahn A, Beldjord C, Chelly J. Bienvenu T, et al. Among authors: billuart p. Hum Mol Genet. 1998 Aug;7(8):1311-5. doi: 10.1093/hmg/7.8.1311. Hum Mol Genet. 1998. PMID: 9668174

9

Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia.

Zanni G, Saillour Y, Nagara M, Billuart P, Castelnau L, Moraine C, Faivre L, Bertini E, Durr A, Guichet A, Rodriguez D, des Portes V, Beldjord C, Chelly J. Zanni G, et al. Among authors: billuart p. Neurology. 2005 Nov 8;65(9):1364-9. doi: 10.1212/01.wnl.0000182813.94713.ee. Epub 2005 Oct 12. Neurology. 2005. PMID: 16221952

10

Inhibition of RhoA pathway rescues the endocytosis defects in Oligophrenin1 mouse model of mental retardation.

Khelfaoui M, Pavlowsky A, Powell AD, Valnegri P, Cheong KW, Blandin Y, Passafaro M, Jefferys JG, Chelly J, Billuart P. Khelfaoui M, et al. Among authors: billuart p. Hum Mol Genet. 2009 Jul 15;18(14):2575-83. doi: 10.1093/hmg/ddp189. Epub 2009 Apr 28. Hum Mol Genet. 2009. PMID: 19401298 Free PMC article.

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