Poirier K - Search Results

1

Rare ACTG1 variants in fetal microlissencephaly.

Poirier K, Martinovic J, Laquerrière A, Cavallin M, Fallet-Bianco C, Desguerre I, Valence S, Grande-Goburghun J, Francannet C, Deleuze JF, Boland A, Chelly J, Bahi-Buisson N. Poirier K, et al. Eur J Med Genet. 2015 Aug;58(8):416-8. doi: 10.1016/j.ejmg.2015.06.006. Epub 2015 Jul 16. Eur J Med Genet. 2015. PMID: 26188271

2

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

3

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.

4

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.

5

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

6

Mutations in exon 1 of MECP2B are not a common cause of X-linked mental retardation in males.

Poirier K, Francis F, Hamel B, Moraine C, Fryns JP, Ropers HH, Chelly J, Bienvenu T. Poirier K, et al. Eur J Hum Genet. 2005 May;13(5):523-4. doi: 10.1038/sj.ejhg.5201399. Eur J Hum Genet. 2005. PMID: 15770224 No abstract available.

7

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

8

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

9

The role of ARX in cortical development.

Friocourt G, Poirier K, Rakić S, Parnavelas JG, Chelly J. Friocourt G, et al. Among authors: poirier k. Eur J Neurosci. 2006 Feb;23(4):869-76. doi: 10.1111/j.1460-9568.2006.04629.x. Eur J Neurosci. 2006. PMID: 16519652 Review.

10

The ARX mutations: a frequent cause of X-linked mental retardation.

Nawara M, Szczaluba K, Poirier K, Chrzanowska K, Pilch J, Bal J, Chelly J, Mazurczak T. Nawara M, et al. Among authors: poirier k. Am J Med Genet A. 2006 Apr 1;140(7):727-32. doi: 10.1002/ajmg.a.31151. Am J Med Genet A. 2006. PMID: 16523516

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