Poirier K - Search Results

1

Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria.

Jaglin XH, Poirier K, Saillour Y, Buhler E, Tian G, Bahi-Buisson N, Fallet-Bianco C, Phan-Dinh-Tuy F, Kong XP, Bomont P, Castelnau-Ptakhine L, Odent S, Loget P, Kossorotoff M, Snoeck I, Plessis G, Parent P, Beldjord C, Cardoso C, Represa A, Flint J, Keays DA, Cowan NJ, Chelly J. Jaglin XH, et al. Among authors: poirier k. Nat Genet. 2009 Jun;41(6):746-52. doi: 10.1038/ng.380. Epub 2009 May 24. Nat Genet. 2009. PMID: 19465910 Free PMC article.

2

Five novel frameshift mutations in exon 3 and 4 of the MECP2 gene identified in Rett patients: Consequences for the molecular diagnosis strategy.

Bienvenu T, Souville I, Poirier K, Aquaviva C, Burglen L, Amiel J, Héron B, Kaminska A, Couvert P, Beldjord C, Chelly J. Bienvenu T, et al. Among authors: poirier k. Hum Mutat. 2001 Sep;18(3):251-2. doi: 10.1002/humu.1182. Hum Mutat. 2001. PMID: 11524737

3

ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation.

Bienvenu T, Poirier K, Friocourt G, Bahi N, Beaumont D, Fauchereau F, Ben Jeema L, Zemni R, Vinet MC, Francis F, Couvert P, Gomot M, Moraine C, van Bokhoven H, Kalscheuer V, Frints S, Gecz J, Ohzaki K, Chaabouni H, Fryns JP, Desportes V, Beldjord C, Chelly J. Bienvenu T, et al. Among authors: poirier k. Hum Mol Genet. 2002 Apr 15;11(8):981-91. doi: 10.1093/hmg/11.8.981. Hum Mol Genet. 2002. PMID: 11971879

4

DHPLC-based method for DNA methylation analysis of differential methylated regions from imprinted genes.

Couvert P, Poirier K, Carrié A, Chalas C, Jouannet P, Beldjord C, Bienvenu T, Chelly J, Kerjean A. Couvert P, et al. Among authors: poirier k. Biotechniques. 2003 Feb;34(2):356-62. doi: 10.2144/03342rr06. Biotechniques. 2003. PMID: 12613258 Free article.

5

Rare polymorphic variants of the AGTR2 gene in boys with non-specific mental retardation.

Bienvenu T, Poirier K, Van Esch H, Hamel B, Moraine C, Fryns JP, Ropers HH, Beldjord C, Yntema HG, Chelly J. Bienvenu T, et al. Among authors: poirier k. J Med Genet. 2003 May;40(5):357-9. doi: 10.1136/jmg.40.5.357. J Med Genet. 2003. PMID: 12746399 Free PMC article. No abstract available.

6

In vitro follicular growth affects oocyte imprinting establishment in mice.

Kerjean A, Couvert P, Heams T, Chalas C, Poirier K, Chelly J, Jouannet P, Paldi A, Poirot C. Kerjean A, et al. Among authors: poirier k. Eur J Hum Genet. 2003 Jul;11(7):493-6. doi: 10.1038/sj.ejhg.5200990. Eur J Hum Genet. 2003. PMID: 12825069

7

Neuroanatomical distribution of ARX in brain and its localisation in GABAergic neurons.

Poirier K, Van Esch H, Friocourt G, Saillour Y, Bahi N, Backer S, Souil E, Castelnau-Ptakhine L, Beldjord C, Francis F, Bienvenu T, Chelly J. Poirier K, et al. Brain Res Mol Brain Res. 2004 Mar 17;122(1):35-46. doi: 10.1016/j.molbrainres.2003.11.021. Brain Res Mol Brain Res. 2004. PMID: 14992814

8

Doublecortin interacts with the ubiquitin protease DFFRX, which associates with microtubules in neuronal processes.

Friocourt G, Kappeler C, Saillour Y, Fauchereau F, Rodriguez MS, Bahi N, Vinet MC, Chafey P, Poirier K, Taya S, Wood SA, Dargemont C, Francis F, Chelly J. Friocourt G, et al. Among authors: poirier k. Mol Cell Neurosci. 2005 Jan;28(1):153-64. doi: 10.1016/j.mcn.2004.09.005. Mol Cell Neurosci. 2005. PMID: 15607950

9

Maternal mosaicism for mutations in the ARX gene in a family with X linked mental retardation.

Poirier K, Abriol J, Souville I, Laroche-Raynaud C, Beldjord C, Gilbert B, Chelly J, Bienvenu T. Poirier K, et al. Hum Genet. 2005 Oct;118(1):45-8. doi: 10.1007/s00439-005-0011-2. Epub 2005 Oct 28. Hum Genet. 2005. PMID: 16078051

10

Screening of ARX in mental retardation families: Consequences for the strategy of molecular diagnosis.

Poirier K, Lacombe D, Gilbert-Dussardier B, Raynaud M, Desportes V, de Brouwer AP, Moraine C, Fryns JP, Ropers HH, Beldjord C, Chelly J, Bienvenu T. Poirier K, et al. Neurogenetics. 2006 Mar;7(1):39-46. doi: 10.1007/s10048-005-0014-0. Epub 2005 Oct 19. Neurogenetics. 2006. PMID: 16235064

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