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Hearing Is Normal without Connexin30
Anne-Cécile Boulay
,
Francisco J. Del Castillo
,
Fabrice Giraudet
,
Ghislaine Hamard
,
Christian Giaume
,
et al.
Journal articles
hal-04027322v1
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Loss-of-function mutations in SOX10 cause Kallmann syndrome with deafness.
Veronique Pingault
,
Virginie Bodereau
,
Viviane Baral
,
Severine Marcos
,
Yuli Watanabe
,
et al.
Journal articles
inserm-00836181v1
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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.
Journal articles
inserm-00541962v1
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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.
Journal articles
inserm-00619240v1
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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.
Journal articles
pasteur-01472843v1
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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.
Journal articles
inserm-03204465v1
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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 articles
inserm-00743698v1
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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.
Journal articles
pasteur-00663885v1
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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
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Thérapie génique des surdités humaines
Anaïs Meyer
,
Christine Petit
,
Saaid Safieddine
Journal articles
hal-04159599v1
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