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Isabelle Souville

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Physiology

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DNA Mutational Analysis

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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.
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.

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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: 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.
2009: Rima Nabbout; Christel Depienne; Mathilde Chipaux; Benoit Girard; Isabelle Souville; Oriane Trouillard; Olivier Dulac; Jamel Chelly; Alexandra Afenjar; Delphine Héron; Eric LeGuern; Cherif Beldjord; Thierry Bienvenu; Nadia Bahi-Buisson
CDKL5 and ARX mutations are not responsible for early onset severe myoclonic epilepsy in infancy.
Epilepsy research 2009;87(1):25-30.
2007: Caroline Kappeler; Marc Dhenain; Françoise Phan Dinh Tuy; Yoann Saillour; Serge Marty; Catherine Fallet-Bianco; Isabelle Souville; Evelyne Souil; Jean-Marc Pinard; Gundela Meyer; Férechté Encha-Razavi; Andreas Volk; Cherif Beldjord; Jamel Chelly; Fiona Francis
Magnetic resonance imaging and histological studies of corpus callosal and hippocampal abnormalities linked to doublecortin deficiency.
The Journal of comparative neurology 2007;500(2):239-54.
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.
2004: Angele Ngukam; Marie Line Jacquemont; Isabelle Souville; Marion Viel; Cherif Beldjord; Dominique Hubert; Jean-Noël Hughes; Thierry Bienvenu
A novel missense mutation A1081P in the cystic fibrosis transmembrane conductance regulator (CFTR) gene identified in a Laotian patient with congenital bilateral absence of the vas deferens.
Journal of tropical pediatrics 2004;50(4):239-40.
2002: Vincent des Portes; L Abaoub; A Joannard; Isabelle Souville; Fiona Francis; Jean-Marc Pinard; Jamel Chelly; Cherif Beldjord; Pierre-Simon Jouk
So-called 'cryptogenic' partial seizures resulting from a subtle cortical dysgenesis due to a doublecortin gene mutation.
Seizure : the journal of the British Epilepsy Association 2002;11(4):273-7.
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.
1999: Thierry Bienvenu; S Bousquet; Isabelle Souville; Cherif Beldjord
[Interference of P1290 P polymorphism (4002 A--> G) in molecular diagnosis of mucoviscidosis using the cystic fibrosis assay: an example of a diagnostic trap].
Annales de biologie clinique 1999;57(6):741-2.