Search - Université Paris Cité Access content directly

Filter your results

24 Results
authFullName_s : Vincent Des Portes
Image document

LIS1-Related Isolated Lissencephaly

Yoann Saillour , Nathalie Carion , Chloe Quelin , Pierre-Louis Leger , Nathalie Boddaert et al.
Archives of Neurology -Chigago-, 2009, 66 (8), pp.1007-1015. ⟨10.1001/archneurol.2009.149⟩
Journal articles hal-01104698v1

Relevance of different cellular models in determining the effects of mutations on SLC16A2/MCT8 thyroid hormone transporter function and genotype-phenotype correlation.

Yline Capri , Edith C H Friesema , Simone Kersseboom , Renaud Touraine , Aurélie Monnier et al.
Human Mutation, 2013, 34 (7), pp.1018-25. ⟨10.1002/humu.22331⟩
Journal articles istex hal-00904130v1
Image document

The c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxia.

Aurore Curie , Tatjana Nazir , Amandine Brun , Yves Paulignan , Anne Reboul et al.
Orphanet Journal of Rare Diseases, 2014, 9, pp.25. ⟨10.1186/1750-1172-9-25⟩
Journal articles hal-01020483v1

Severe phenotypic spectrum of biallelic mutations in PRRT2 gene

Marion Delcourt , Florence Riant , Josette Mancini , Mathieu Milh , Vincent Navarro et al.
Journal of Neurology, Neurosurgery and Psychiatry, 2015, 86 (7), pp.782-785. ⟨10.1136/jnnp-2014-309025⟩
Journal articles hal-02136851v1

Une épreuve d’écoute dichotique pour diagnostiquer les modifications d’asymétrie hémisphérique dans l’épilepsie bénigne de l’enfance

Céline Lopez , Vania Herbillon , Nathalie Bedoin , Emmanuel Ferragne , Egidio Marsico et al.
Colloque "Neuroscience, Education et Francophonie" (NEF), Mar 2009, Lyon, France. Actes du Colloque "Neuroscience, Education et Francophonie" (NEF), 2009
Conference poster hal-01240423v1

Further delineation of the clinical spectrum of de novo TRIM8 truncating mutations

Mirna Assoum , Matthew Lines , Orly Elpeleg , Véronique Darmency , Sharon Whiting et al.
American Journal of Medical Genetics Part A, 2018, 176 (11), pp.2470-2478. ⟨10.1002/ajmg.a.40357⟩
Journal articles hal-01990608v1
Image document

Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly.

Karine Poirier , Nicolas Lebrun , Loic Broix , Guoling Tian , Yoann Saillour et al.
Nature Genetics, 2013, 45 (6), pp.639-47. ⟨10.1038/ng.2613⟩
Journal articles inserm-00838073v1
Image document

Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms.

David Cheillan , Marie Joncquel-Chevalier Curt , Gilbert Briand , Gajja Salomons , Karine Mention-Mulliez et al.
Orphanet Journal of Rare Diseases, 2012, 7 (1), pp.96. ⟨10.1186/1750-1172-7-96⟩
Journal articles inserm-00780328v1

Stratégie d'exploration d'une déficience intellectuelle inexpliquée

Alain Verloes , Delphine Heron , T, Billette de Villemeur , Alexandra Afenjar , N. Bahi-Buisson et al.
Archives de Pédiatrie, 2012, 19 (2), pp.194-207
Journal articles hal-00916006v1

Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium.

Arjan P M de Brouwer , Helger G Yntema , Tjitske Kleefstra , Dorien Lugtenberg , Astrid R Oudakker et al.
Human Mutation, 2007, 28 (2), pp.207-8. ⟨10.1002/humu.9482⟩
Journal articles hal-00655314v1

MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression.

Suzanna Gerarda Maria Frints , Steffen Lenzner , Mareike Bauters , Lars Riff Jensen , Hilde van Esch et al.
European Journal of Human Genetics, 2008, 16 (9), pp.1029-37. ⟨10.1038/ejhg.2008.66⟩
Journal articles hal-00655304v1

Atypical hemispheric asymmetries for the processing of phonological features in children with rolandic epilepsy.

Nathalie Bedoin , Emmanuel Ferragne , Céline Lopez , Vania Herbillon , J. de Bellescize et al.
Epilepsy & Behavior, 2011, 21 (1), pp.42-51. ⟨10.1016/j.yebeh.2011.02.026⟩
Journal articles istex hal-00655284v1
Image document

New insights into CC2D2A -related Joubert syndrome

Madeleine Harion , Leila Qebibo , Audrey Riquet , Christelle Rougeot , Alexandra Afenjar et al.
Journal of Medical Genetics, 2022, pp.jmedgenet-2022-108754. ⟨10.1136/jmg-2022-108754⟩
Journal articles hal-03837222v1

Impairment of cerebello-thalamo-frontal pathway in Rab-GDI mutated patients with pure mental deficiency

Aurore Curie , Silvia Sacco , Gerald Bussy , Anne de Saint Martin , Nathalie Boddaert et al.
European Journal of Medical Genetics, 2009, 52, pp.Issue : 1 Pages : 6-13. ⟨10.1016/j.ejmg.2008.09.003⟩
Journal articles istex hal-01104707v1

Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability

Solveig Heide , Boris Keren , Thierry Billette de Villemeur , Sandra Chantot-Bastaraud , Christel Depienne et al.
The Journal of Pediatrics, 2017, 185, pp.160 - 166.e1. ⟨10.1016/j.jpeds.2017.02.023⟩
Journal articles hal-01560200v1

Pelizaeus-Merzbacher-Like disease presentation of MCT8 mutated male subjects.

Catherine Vaurs-Barrière , Marlène Deville , Catherine Sarret , Geneviève Giraud , Vincent Des Portes et al.
Annals of Neurology, 2009, 65 (1), pp.114-8. ⟨10.1002/ana.21579⟩
Journal articles istex hal-00655300v1

The three stages of epilepsy in patients with CDKL5 mutations.

Nadia Bahi-Buisson , Anna Kaminska , Nathalie Boddaert , Marlène Rio , Alexandra Afenjar et al.
Epilepsia, 2008, 49 (6), pp.1027-37. ⟨10.1111/j.1528-1167.2007.01520.x⟩
Journal articles hal-00652527v1

Expanding the phenotypic spectrum of Allan–Herndon–Dudley syndrome in patients with SLC 16A2 mutations

Ganaelle Remerand , Odile Boespflug‐tanguy , Davide Tonduti , Renaud Touraine , Diana Rodriguez et al.
Developmental Medicine and Child Neurology, 2019, 61 (12), pp.1439-1447. ⟨10.1111/dmcn.14332⟩
Journal articles hal-02267879v1

The location of DCX mutations predicts malformation severity in X-linked lissencephaly

Pierre-Louis Leger , Isabelle Souville , Nathalie Boddaert , Caroline Elie , Jean-Marc Pinard et al.
neurogenetics, 2008, 9, pp.Issue : 4 Pages : 277-285. ⟨10.1007/s10048-008-0141-5⟩
Journal articles istex hal-01104714v1
Image document

KCNT1 epilepsy with migrating focal seizures shows a temporal sequence with poor outcome, high mortality and SUDEP

Mathieu Kuchenbuch , Giulia Barcia , Nicole Chemaly , Emilie Carme , Agathe Roubertie et al.
Brain - A Journal of Neurology , 2019, 142 (10), pp.2996-3008. ⟨10.1093/brain/awz240⟩
Journal articles hal-02304375v1

Deleterious mutations in exon 1 of MECP2 in Rett syndrome.

Aline Quenard , Saliha Yilmaz , Hervé Fontaine , Thierry Bienvenu , Anne Moncla et al.
European Journal of Medical Genetics, 2006, 49 (4), pp.313-22. ⟨10.1016/j.ejmg.2005.11.002⟩
Journal articles istex hal-00655311v1
Image document

Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient.

Lydie Burglen , Sandra Chantot-Bastaraud , Catherine Garel , Mathieu Milh , Renaud Touraine et al.
Orphanet Journal of Rare Diseases, 2012, 7 (1), pp.18. ⟨10.1186/1750-1172-7-18⟩
Journal articles inserm-00697436v1
Image document

GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex

Nadia Bahi-Buisson , Karine Poirier , Nathalie Boddaert , Catherine Fallet-Bianco , Nicola Specchio et al.
Brain - A Journal of Neurology , 2010, 133 (11), pp.3194 - 3209. ⟨10.1093/brain/awq259⟩
Journal articles hal-01668022v1

Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients

Salima El Chehadeh , Laurence Faivre , Anne-Laure Mosca-Boidron , Valérie Malan , Jeanne Amiel et al.
American Journal of Medical Genetics Part A, 2016, 170 (1), pp.116-129. ⟨10.1002/ajmg.a.37384⟩
Journal articles istex hal-01237099v1