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11q24.2-25 micro-rearrangements in autism spectrum disorders: Relation to brain structures.

 Anna Maruani , Guillaume Huguet , Anita Beggiato , Monique Elmaleh , Roberto Toro , et al.
American Journal of Medical Genetics Part A, 2015, 167 (12), pp.3019-30. ⟨10.1002/ajmg.a.37345⟩
Article dans une revue pasteur-01579742v1
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Dissecting the 22q13 region to explore the genetic and phenotypic diversity of patients with Phelan-McDermid syndrome

 Aline Vitrac , Claire Leblond , Thomas Rolland , Freddy Cliquet , Mathieu Alexandre , et al.
European Journal of Medical Genetics, 2023, 66 (5), pp.104732. ⟨10.1016/j.ejmg.2023.104732⟩
Article dans une revue pasteur-04119437v1
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Synesthesia & autistic features in a large family: Evidence for spatial imagery as a common factor

 Lucie Bouvet , Frederique Amsellem , Anna Maruani , Adelaïde Tonus-Vic Dupont , Mathieu Alexandre , et al.
Behavioural Brain Research, 2019, 362, pp.266-272. ⟨10.1016/j.bbr.2019.01.014⟩
Article dans une revue hal-02368034v1
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A framework to identify contributing genes in patients with Phelan-McDermid syndrome

 Anne-Claude Tabet , Thomas Rolland , Marie Ducloy , Jonathan Levy , Julien Buratti , et al.
Genomic Medicine, 2017, 2, pp.32. ⟨10.1038/s41525-017-0035-2⟩
Article dans une revue hal-01738521v1
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Author Correction : A framework to identify contributing genes in patients with Phelan-McDermid syndrome

 Anne-Claude Tabet , Thomas Rolland , Marie Ducloy , Jonathan Levy , Julien Buratti , et al.
npj Genomic Medicine, 2019, 4 (1), pp.16. ⟨10.1038/s41525-019-0090-y⟩
Article dans une revue hal-02347889v1
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Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments.

 Claire S. Leblond , Caroline Nava , Anne Polge , Julie Gauthier , Guillaume Huguet , et al.
PLoS Genetics, 2014, 10 (9), pp.e1004580. ⟨10.1371/journal.pgen.1004580⟩
Article dans une revue inserm-01061498v1
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Both rare and common genetic variants contribute to autism in the Faroe Islands

 Claire Leblond , Freddy Cliquet , Coralie Carton , Guillaume Huguet , Mathieu Alexandre , et al.
npj Genomic Medicine, 2019, 4 (1), ⟨10.1038/s41525-018-0075-2⟩
Article dans une revue pasteur-02562551v1
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CNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disorders

 M Mercati , G Huguet , Anne Danckaert , L André-Leroux , Anna Maruani , et al.
Molecular Psychiatry, 2017, 22 (4), pp.625 - 633. ⟨10.1038/mp.2016.61⟩
Article dans une revue pasteur-01516991v1

Homozygous 2p11.2 deletion supports the implication of ELMOD3 in hearing loss and reveals the potential association of CAPG with ASD/ID etiology

 Saida Lahbib , Claire S. Leblond , Mariem Hamza , Béatrice Regnault , Laure Lemee , et al.
Journal of Applied Genetics, 2018, ⟨10.1007/s13353-018-0472-3⟩
Article dans une revue pasteur-01948341v1

Measuring and Estimating the Effect Sizes of Copy Number Variants on General Intelligence in Community-Based Samples

 Guillaume Huguet , Catherine Schramm , Elise Douard , Lai Jiang , Aurélie Labbe , et al.
JAMA Psychiatry, 2018, 75 (5), pp.447-457. ⟨10.1001/jamapsychiatry.2018.0039⟩
Article dans une revue pasteur-01967227v1
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Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3

 Rahel Florian , Florian Kraft , Elsa Leitão , Sabine Kaya , Stephan Klebe , et al.
Nature Communications, 2019, 10 (1), pp.4919. ⟨10.1038/s41467-019-12763-9⟩
Article dans une revue pasteur-02562487v1
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