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Karine Poirier

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Karine Poirier; Yoann Saillour; Isabelle Souville; Stéphanie Valence; Cherif Beldjord; Nathalie Boddaert; Jamel Chelly; Isabelle Desguerre; Franck Fourniol; Fiona Francis; Marine Line Jacquemont; Jean Marie Lepage; Nadia Bahi-Buisson
Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria.
Nadia Bahi-Buisson; Cherif Beldjord; Nathalie Boddaert; Jamel Chelly; Caroline Elie; Franck J Fourniol; Fiona Francis; Anne Houdusse; Marie Hully; Reham Khalaf-Nazzal; Carolyn A Moores; Karine Poirier; Isabelle Souville; Aurelie Toussaint; Pierre Louis Leger; Jean Yves Lemaitre
New insights into genotype-phenotype correlations for the doublecortin-related lissencephaly spectrum.
Martin Breuss; Jamel Chelly; Tim Clausen; Nicholas Justin Cowan; Pierre Gressens; Thomas Gstrein; Matilda Haas; Julian Ik-Tsen Heng; Xavier Hubert Jaglin; Marie-Laure Moutard; Linh Ngo; Sandrine Passemard; Karine Poirier; Zhengdong Qu; Deepa Selvi Rani; Kathryn J H Robson; Kumarasamy Thangaraj; Guoling Tian; Alain Verloes; Yunli Xie; Nadia Bahi-Buisson; Andreas Braun; David A Keays
Mutations in the β-tubulin gene TUBB5 cause microcephaly with structural brain abnormalities.

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All Publications

2013: Karine Poirier; Yoann Saillour; Isabelle Souville; Stéphanie Valence; Cherif Beldjord; Nathalie Boddaert; Jamel Chelly; Isabelle Desguerre; Franck Fourniol; Fiona Francis; Marine Line Jacquemont; Jean Marie Lepage; Nadia Bahi-Buisson
Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria.
European journal of human genetics : EJHG 2013;21(4):381-5.
2013: Nadia Bahi-Buisson; Cherif Beldjord; Nathalie Boddaert; Jamel Chelly; Caroline Elie; Franck J Fourniol; Fiona Francis; Anne Houdusse; Marie Hully; Reham Khalaf-Nazzal; Carolyn A Moores; Karine Poirier; Isabelle Souville; Aurelie Toussaint; Pierre Louis Leger; Jean Yves Lemaitre
New insights into genotype-phenotype correlations for the doublecortin-related lissencephaly spectrum.
Brain : a journal of neurology 2013;136(Pt 1):223-44.
2012: Martin Breuss; Jamel Chelly; Tim Clausen; Nicholas Justin Cowan; Pierre Gressens; Thomas Gstrein; Matilda Haas; Julian Ik-Tsen Heng; Xavier Hubert Jaglin; Marie-Laure Moutard; Linh Ngo; Sandrine Passemard; Karine Poirier; Zhengdong Qu; Deepa Selvi Rani; Kathryn J H Robson; Kumarasamy Thangaraj; Guoling Tian; Alain Verloes; Yunli Xie; Nadia Bahi-Buisson; Andreas Braun; David A Keays
Mutations in the β-tubulin gene TUBB5 cause microcephaly with structural brain abnormalities.
Cell reports 2012;2(6):1554-62.
2012: Chloé Quélin; Yoann Saillour; Isabelle Souville; LAURENT VERCUEIL; Cherif Beldjord; Nathalie Boddaert; Jamel Chelly; Fanny Dubois; Anne Elodie Millisher-Bellaiche; Marie Ange N'guyen-Morel; Karine Poirier; Nadia Bahi-Buisson
Mosaic DCX deletion causes subcortical band heterotopia in males.
Neurogenetics 2012;13(4):367-73.
2012: Chloe Quelin; Agathe Roubertie; Yoann Saillour; Cherif Beldjord; Nathalie Boddaert; Jamel Chelly; Isabelle Desguerre; Frank Letourneur; Karine Poirier; Nadia Bahi-Buisson
Focal polymicrogyria are associated with submicroscopic chromosomal rearrangements detected by CGH microarray analysis.
European journal of medical genetics 2012;55(10):527-30.
2010: Ginevra Zanni; Hilde Van Esch; Anissa Bensalem; Yoann Saillour; Karine Poirier; Laetitia Castelnau; Hans-Hilger Ropers; Arjan P M de Brouwer; Fréderic Laumonnier; Jean-Pierre Fryns; Jamel Chelly
A novel mutation in the DLG3 gene encoding the synapse-associated protein 102 (SAP102) causes non-syndromic mental retardation.
Neurogenetics 2010;11(2):251-5.
2009: Xavier Hubert Jaglin; Karine Poirier; Yoann Saillour; Emmanuelle Buhler; Guoling Tian; Nadia Bahi-Buisson; Catherine Fallet-Bianco; Françoise Phan Dinh Tuy; Xiang-Peng Kong; Pascale Bomont; Laëtitia Castelnau-Ptakhine; Sylvie Odent; Philippe Loget; Manoelle Kossorotoff; Irina Snoeck; Ghislaine Plessis; Philippe Parent; Cherif Beldjord; Carlos Cardoso; Alfonso Represa; Jonathan Flint; David A Keays; Nicholas Justin Cowan; Jamel Chelly
Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria.
Nature genetics 2009;41(6):746-52.
2008: Yoann Saillour; Mireille Cossée; France Leturcq; Aurélie Vasson; Caroline Beugnet; Karine Poirier; Virginie Commere; Sébastien Sublemontier; Marion Viel; Franck Letourneur; Jean Claude Barbot; Nathalie Deburgrave; Jamel Chelly; Thierry Bienvenu
Detection of exonic copy-number changes using a highly efficient oligonucleotide-based comparative genomic hybridization-array method.
Human mutation 2008;29(9):1083-90.
2007: Yoann Saillour; Ginevra Zanni; Vincent des Portes; D Heron; Laurent Guibaud; M T Iba-Zizen; J L Pedespan; Karine Poirier; L Castelnau; C Julien; C Franconnet; D Bonthron; M E Porteous; Jamel Chelly; Thierry Bienvenu
Mutations in the AP1S2 gene encoding the sigma 2 subunit of the adaptor protein 1 complex are associated with syndromic X-linked mental retardation with hydrocephalus and calcifications in basal ganglia.
Journal of medical genetics 2007;44(11):739-44.
2007: Karine Poirier; David A Keays; Fiona Francis; Yoann Saillour; Nadia Bahi; Sylvie Manouvrier; Catherine Fallet-Bianco; Laurent Pasquier; Annick Toutain; Françoise Phan Dinh Tuy; Thierry Bienvenu; Sylvie Joriot; Sylvie Odent; Dorothée Ville; Isabelle Desguerre; Alice Goldenberg; Marie-Laure Moutard; Jean-Pierre Fryns; Hilde Van Esch; Robert Justin Harvey; Christian Siebold; Jonathan Flint; Cherif Beldjord; Jamel Chelly
Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A).
Human mutation 2007;28(11):1055-64.
2007: David A Keays; Guoling Tian; Karine Poirier; Guo-Jen Huang; Christian Siebold; James Cleak; Peter L Oliver; Martin Fray; Robert Justin Harvey; Zoltán Molnár; Maria C Piñon; Neil Dear; William Valdar; Steve D M Brown; Kay E Davies; J N P Rawlins; Nicholas J Cowan; Patrick Nolan; Jamel Chelly; Jonathan Flint
Mutations in alpha-tubulin cause abnormal neuronal migration in mice and lissencephaly in humans.
Cell 2007;128(1):45-57.
2006: Karine Poirier; D Lacombe; B Gilbert-Dussardier; Martine Raynaud; Vincent Desportes; Arjan de Brouwer; Claude Moraine; Jean-Pierre Fryns; Hans-Hilger Ropers; Cherif Beldjord; Jamel Chelly; Thierry Bienvenu
Screening of ARX in mental retardation families: Consequences for the strategy of molecular diagnosis.
Neurogenetics 2006;7(1):39-46.
2006: Gaëlle Friocourt; Karine Poirier; Sonja Rakić; John G Parnavelas; Jamel Chelly
The role of ARX in cortical development.
The European journal of neuroscience 2006;23(4):869-76.
2005: Karine Poirier; J Abriol; Isabelle Souville; C Laroche-Raynaud; Cherif Beldjord; B Gilbert; Jamel Chelly; Thierry Bienvenu
Maternal mosaicism for mutations in the ARX gene in a family with X linked mental retardation.
Human genetics 2005;118(1):45-8.
2005: Karine Poirier; Fiona Francis; Ben Hamel; Claude Moraine; Jean-Pierre Fryns; Hans-Hilger Ropers; Jamel Chelly; Thierry Bienvenu
Mutations in exon 1 of MECP2B are not a common cause of X-linked mental retardation in males.
European journal of human genetics : EJHG 2005;13(5):523-4.
2005: Gaëlle Friocourt; Caroline Kappeler; Yoann Saillour; Fabien Fauchereau; Manuel S Rodriguez; Nadia Bahi; Marie-Claude Vinet; Philippe Chafey; Karine Poirier; Shinichiro Taya; Stephen A Wood; Catherine Dargemont; Fiona Francis; Jamel Chelly
Doublecortin interacts with the ubiquitin protease DFFRX, which associates with microtubules in neuronal processes.
Molecular and cellular neurosciences 2005;28(1):153-64.
2004: Hilde Van Esch; Karine Poirier; F de Zegher; Maureen Holvoet; Thierry Bienvenu; Jamel Chelly; koenraad devriendt; J-P Fryns
ARX mutation in a boy with transsphenoidal encephalocele and hypopituitarism.
Clinical genetics 2004;65(6):503-5.
2004: Karine Poirier; Hilde Van Esch; Gaëlle Friocourt; Yoann Saillour; Nadia Bahi; Stéphanie Backer; Evelyne Souil; Laetitia Castelnau-Ptakhine; Cherif Beldjord; Fiona Francis; Thierry Bienvenu; Jamel Chelly
Neuroanatomical distribution of ARX in brain and its localisation in GABAergic neurons.
Brain research. Molecular brain research 2004;122(1):35-46.
2003: Karine Poirier; Céline Chalas; Frédérique Tissier; Philippe Couvert; Vincent Mallet; Alain Carrié; Agnès Marchio; Dario Sarli; Christine Gicquel; Stanislas Chaussade; Cherif Beljord; Jamel Chelly; Antoine Kerjean; Benoît Terris
Loss of parental-specific methylation at the IGF2 locus in human hepatocellular carcinoma.
The Journal of pathology 2003;201(3):473-9.
2003: Antoine Kerjean; Philippe Couvert; Thomas Heams; Céline Chalas; Karine Poirier; Jamel Chelly; Pierre Jouannet; Andras Paldi; Catherine Poirot
In vitro follicular growth affects oocyte imprinting establishment in mice.
European journal of human genetics : EJHG 2003;11(7):493-6.
2003: Thierry Bienvenu; Karine Poirier; Hilde Van Esch; Ben Hamel; Claude Moraine; J P Fryns; Hans-Hilger Ropers; Cherif Beldjord; Helger G Yntema; Jamel Chelly
Rare polymorphic variants of the AGTR2 gene in boys with non-specific mental retardation.
Journal of medical genetics 2003;40(5):357-9.
2003: Philippe Couvert; Karine Poirier; Alain Carrié; Céline Chalas; Pierre Jouannet; Cherif Beldjord; Thierry Bienvenu; Jamel Chelly; Antoine Kerjean
DHPLC-based method for DNA methylation analysis of differential methylated regions from imprinted genes.
BioTechniques 2003;34(2):356-62.
2002: J P Bastard; S Chambert; F Ceppa; M Coude; E Grapez; S Loric; F Muzeau; F Spyratos; Karine Poirier; V Copois; C Tse; Thierry Bienvenu
[RNA isolation and purification methods].
Annales de biologie clinique 2002;60(5):513-23.
2002: Thierry Bienvenu; Karine Poirier; Gaëlle Friocourt; Nadia Bahi; Delphine Beaumont; Fabien Fauchereau; Lamia Ben Jeema; Ramzi Zemni; Marie-Claude Vinet; Fiona Francis; Philippe Couvert; Marie Gomot; Claude Moraine; Hans van Bokhoven; Vera Kalscheuer; Suzanna G M Frints; Jozef Gecz; Kanae Ohzaki; Habiba Chaabouni; Jean-Pierre Fryns; Vincent Desportes; Cherif Beldjord; Jamel Chelly
ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation.
Human molecular genetics 2002;11(8):981-91.
2001: Thierry Bienvenu; Isabelle Souville; Karine Poirier; C Aquaviva; L Burglen; J Amiel; Bénédicte Héron; A Kaminska; Philippe Couvert; Cherif Beldjord; Jamel Chelly
Five novel frameshift mutations in exon 3 and 4 of the MECP2 gene identified in Rett patients: Consequences for the molecular diagnosis strategy.
Human mutation 2001;18(3):251-2.
2001: Philippe Couvert; Thierry Bienvenu; C Aquaviva; Karine Poirier; Claude Moraine; Chantal Gendrot; Alain Verloes; C Andrès; A C Le Fevre; Isabelle Souville; J Steffann; Vincent des Portes; Hans-Hilger Ropers; Helger G Yntema; J P Fryns; Sylvain Briault; Jamel Chelly; B Cherif
MECP2 is highly mutated in X-linked mental retardation.
Human molecular genetics 2001;10(9):941-6.