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The complex genetics of Kallmann syndrome: KAL1, FGFR1, FGF8, PROKR2, PROK2, et al.
Jean-Pierre Hardelin
,
Catherine Dodé
Journal articles
inserm-00339172v1
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Harmonin-b, an actin-binding scaffold protein, is involved in the adaptation of mechanoelectrical transduction by sensory hair cells
Nicolas Michalski
,
Vincent Michel
,
Elisa Caberlotto
,
Gaëlle Lefèvre
,
Alexander van Aken
,
et al.
Journal articles
pasteur-02616476v1
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Interaction of protocadherin-15 with the scaffold protein whirlin supports its anchoring of hair-bundle lateral links in cochlear hair cells
Vincent Michel
,
Elise Pepermans
,
Jacques Boutet de Monvel
,
Patrick England
,
Sylvie Nouaille
,
et al.
Journal articles
hal-02988089v1
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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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EPS8, encoding an actin-binding protein of cochlear hair cell stereocilia, is a new causal gene for autosomal recessive profound deafness.
Asma Behlouli
,
Crystel Bonnet
,
Samia Abdi
,
Aïcha Bouaita
,
Andrea Lelli
,
et al.
Journal articles
inserm-00986102v1
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