Search - Génétique et Physiologie de l'Audition Access content directly

Filter your results

10 Results
Deposit type : Fulltext
Image document

Hearing Is Normal without Connexin30

Anne-Cécile Boulay , Francisco J. Del Castillo , Fabrice Giraudet , Ghislaine Hamard , Christian Giaume , et al.
Journal of Neuroscience, 2013, 33 (2), pp.430-434. ⟨10.1523/JNEUROSCI.4240-12.2013⟩
Journal articles hal-04027322v1
Image document

Loss-of-function mutations in SOX10 cause Kallmann syndrome with deafness.

Veronique Pingault , Virginie Bodereau , Viviane Baral , Severine Marcos , Yuli Watanabe , et al.
American Journal of Human Genetics, 2013, 92 (5), pp.707-24. ⟨10.1016/j.ajhg.2013.03.024⟩
Journal articles inserm-00836181v1
Image document

Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation.

Christèle Dubourg , Damien Sanlaville , Martine Doco-Fenzy , Cédric Le Caignec , Chantal Missirian , et al.
European Journal of Medical Genetics, 2011, 54 (2), pp.144-51. ⟨10.1016/j.ejmg.2010.11.003⟩
Journal articles inserm-00541962v1
Image document

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.

Sébastien Jacquemont , Alexandre Reymond , Flore Zufferey , Louise Harewood , Robin G. Walters , et al.
Nature, 2011, 478 (7367), pp.97-102. ⟨10.1038/nature10406⟩
Journal articles inserm-00619240v1
Image document

Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafness.

Sedigheh Delmaghani , Asadollah Aghaie , Nicolas Michalski , Crystel Bonnet , Dominique Weil , et al.
Human Molecular Genetics, 2012, 21 (17), pp.3835-44. ⟨10.1093/hmg/dds212⟩
Journal articles pasteur-01472843v1
Image document

SEMA3A, a Gene Involved in Axonal Pathfinding, Is Mutated in Patients with Kallmann Syndrome

Naresh Kumar Hanchate , Paolo Giacobini , Pierre Lhuillier , Jyoti Parkash , Cécile Espy , et al.
PLoS Genetics, 2012, 8 (8), pp.e1002896. ⟨10.1371/journal.pgen.1002896⟩
Journal articles inserm-03204465v1
Image document

Localization of Usher 1 proteins to the photoreceptor calyceal processes, which are absent from mice.

Iman Sahly , Eric Dufour , Cataldo Schietroma , Vincent Michel , Amel Bahloul , et al.
Journal of Cell Biology, 2012, 199 (2), pp.381-99. ⟨10.1083/jcb.201202012⟩
Journal articles inserm-00743698v1
Image document

Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis.

Crystel Bonnet , M'Hamed Grati , Sandrine Marlin , Jacqueline Levilliers , Jean-Pierre Hardelin , et al.
Orphanet Journal of Rare Diseases, 2011, 6 (1), pp.21. ⟨10.1186/1750-1172-6-21⟩
Journal articles pasteur-00663885v1
Image document

Usher type 1G protein sans is a critical component of the tip-link complex, a structure controlling actin polymerization in stereocilia.

Elisa Caberlotto , Michel Vittot , Isabelle Foucher , Amel Bahloul , Richard J Goodyear , et al.
Proceedings of the National Academy of Sciences of the United States of America, 2011, 108 (14), pp.5825-30. ⟨10.1073/pnas.1017114108⟩
Journal articles pasteur-01472844v1
Image document

Thérapie génique des surdités humaines

Anaïs Meyer , Christine Petit , Saaid Safieddine
Médecine/Sciences, 2013, 29 (10), pp.883 - 889. ⟨10.1051/medsci/20132910016⟩
Journal articles hal-04159599v1