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The complex genetics of Kallmann syndrome: KAL1, FGFR1, FGF8, PROKR2, PROK2, et al.

Jean-Pierre Hardelin , Catherine Dodé
Sexual Development, 2008, 2 (4-5), pp.181-93. ⟨10.1159/000152034⟩
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.
Pflügers Archiv European Journal of Physiology, 2009, 459 (1), pp.115-130. ⟨10.1007/s00424-009-0711-x⟩
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.
Scientific Reports, 2020, 10 (1), pp.16430. ⟨10.1038/s41598-020-73158-1⟩
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.
Orphanet Journal of Rare Diseases, 2011, 6 (1), pp.21. ⟨10.1186/1750-1172-6-21⟩
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.
Orphanet Journal of Rare Diseases, 2014, 9 (1), pp.55. ⟨10.1186/1750-1172-9-55⟩
Journal articles inserm-00986102v1