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I. Souville · SciRah

Researcher profile · Semantic Scholar

I. Souville

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I. Souville — researcher profile on SciRah

h-index: 11
Works: 19
Citations: 1,029

Most-cited papers

MECP2 is highly mutated in X-linked mental retardation.
P. Couvert, T. Bienvenu, C. Aquaviva, K. Poirier +14 more
2001Human Molecular Genetics293 citations
Semantic Scholar
The wide spectrum of tubulinopathies: what are the key features for the diagnosis?
N. Bahi-buisson, K. Poirier, F. Fourniol, Y. Saillour +10 more
2014Brain : a journal of neurology288 citations
Semantic Scholar
New insights into genotype-phenotype correlations for the doublecortin-related lissencephaly spectrum.
N. Bahi-buisson, I. Souville, F. Fourniol, A. Toussaint +12 more
2013Brain : a journal of neurology108 citations Open access
Semantic Scholar
Magnetic resonance imaging and histological studies of corpus callosal and hippocampal abnormalities linked to doublecortin deficiency
C. Kappeler, M. Dhenain, F. Phan-dinh-tuy, Y. Saillour +11 more
2007The Journal of comparative neurology77 citations
Semantic Scholar
Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria
K. Poirier, Y. Saillour, F. Fourniol, F. Francis +9 more
2012European Journal of Human Genetics65 citations Open access
Semantic Scholar
The location of DCX mutations predicts malformation severity in X-linked lissencephaly
P. Léger, I. Souville, N. Boddaert, C. Elie +11 more
2008Neurogenetics48 citations
Semantic Scholar
MECP 2 is highly mutated in X-linked mental retardation
P. Couvert, T. Bienvenu, C. Aquaviva, K. Poirier +14 more
200139 citations
Semantic Scholar
Combination of infantile spasms, non-epileptic seizures and complex movement disorder: a new case of ARX-related epilepsy.
K. Poirier, M. Eisermann, I. Caubel, A. Kaminska +10 more
2008Epilepsy Research37 citations
Semantic Scholar
Mosaic DCX deletion causes subcortical band heterotopia in males
Chloé Quēlin, Y. Saillour, I. Souville, K. Poirier +8 more
2012Neurogenetics20 citations
Semantic Scholar
So-called 'cryptogenic' partial seizures resulting from a subtle cortical dysgenesis due to a doublecortin gene mutation.
V. Portes, I. Souville, F. Francis, J. Pinard +5 more
2002Seizure16 citations Open access
Semantic Scholar
The c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxia
A. Curie, T. Nazir, Amandine Brun, Y. Paulignan +38 more
2014Orphanet Journal of Rare Diseases15 citations Open access
Semantic Scholar
[Epileptogenic brain malformations: radiological and clinical presentation and indications for genetic testing].
N. Bahi-buisson, N. Boddaert, Y. Saillour, I. Souville +7 more
2008Revue neurologique (Paris)10 citations
Semantic Scholar
CDKL5 and ARX mutations are not responsible for early onset severe myoclonic epilepsy in infancy.
R. Nabbout, C. Depienne, M. Chipaux, B. Girard +10 more
2009Epilepsy Research4 citations
Semantic Scholar
Five novel frameshift mutations in exon 3 and 4 of the MECP2 gene identified in Rett patients: Consequences for the molecular diagnosis strategy
T. Bienvenu, I. Souville, K. Poirier, C. Aquaviva +7 more
2001Human Mutation4 citations Open access
Semantic Scholar
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.
Angèle Ngukam, M. Jacquemont, I. Souville, M. Viel +4 more
2004Journal of Tropical Pediatrics3 citations
Semantic Scholar
[Interference of P1290 P polymorphism (4002 A--> G) in molecular diagnosis of mucoviscidosis using the cystic fibrosis assay: an example of a diagnostic trap].
T. Bienvenu, S. Bousquet, I. Souville, C. Beldjord
1999Annales de Biologie Clinique2 citations
Semantic Scholar
Mosaic DCX deletion causes subcortical band heterotopia in males
Chloé Quēlin, Y. Saillour, I. Souville, K. Poirier +8 more
2012Neurogenetics0 citations
Semantic Scholar
Screening of ARX in 414 families with X-linked mental retardation and report of the first maternal somatic mosaicism for the ARX gene
K. Poirier, J. Abriol, I. Souville, D. Lacombe +8 more
20050 citations
Semantic Scholar
Mutation analysis of doublecortin, lis 1 and ARX in syndromal forms of mental retardation associated with cortical dysgenesis
C. Beldjord, Des Portes, I. Souville, N. Carion +7 more
20040 citations
Semantic Scholar

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