Poirier K - Search Results

1

Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis.

Ramos-Brossier M, Montani C, Lebrun N, Gritti L, Martin C, Seminatore-Nole C, Toussaint A, Moreno S, Poirier K, Dorseuil O, Chelly J, Hackett A, Gecz J, Bieth E, Faudet A, Heron D, Frank Kooy R, Loeys B, Humeau Y, Sala C, Billuart P. Ramos-Brossier M, et al. Among authors: poirier k. Hum Mol Genet. 2015 Feb 15;24(4):1106-18. doi: 10.1093/hmg/ddu523. Epub 2014 Oct 9. Hum Mol Genet. 2015. PMID: 25305082 Free PMC article.

2

MECP2 is highly mutated in X-linked mental retardation.

Couvert P, Bienvenu T, Aquaviva C, Poirier K, Moraine C, Gendrot C, Verloes A, Andrès C, Le Fevre AC, Souville I, Steffann J, des Portes V, Ropers HH, Yntema HG, Fryns JP, Briault S, Chelly J, Cherif B. Couvert P, et al. Among authors: poirier k. Hum Mol Genet. 2001 Apr 15;10(9):941-6. doi: 10.1093/hmg/10.9.941. Hum Mol Genet. 2001. PMID: 11309367

3

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

4

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

5

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.

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

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.

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

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

105 results

Search Page

Filters