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Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease.
Jean Muller
,
Corinne Stoetzel
,
Marie-Claire Vincent
,
Carmen C Leitch
,
Virginie Laurier
et al.
Journal articles
inserm-00462147v1
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The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype
Mouna Barat-Houari
,
Bruno Dumont
,
Aurelie J Fabre
,
Frédéric Tm Them
,
Yves Alembik
et al.
Journal articles
hal-01239808v1
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High prevalence of PRPH2 in autosomal dominant retinitis pigmentosa in France and characterization of biochemical and clinical features.
Gaël Manes
,
Tremeur Guillaumie
,
Werner L Vos
,
Aurore Devos
,
Isabelle Audo
et al.
Journal articles
hal-01091447v1
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Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network
Nicolas Chassaing
,
Erica E. Davis
,
Kelly L. Mcknight
,
Adrienne R. Niederriter
,
Alexandre Causse
et al.
Journal articles
hal-01282340v1
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Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations.
Marc Ferré
,
Dominique Bonneau
,
Dan Milea
,
Arnaud Chevrollier
,
Christophe Verny
et al.
Journal articles
inserm-00372261v1
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Submicroscopic Deletions at 13q32.1 Cause Congenital Microcoria.
Lucas Fares-Taie
,
Sylvie Gerber
,
Akihiko Tawara
,
Arturo Ramirez-Miranda
,
Jean-Yves Douet
et al.
Journal articles
hal-01134461v1
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First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients
Bertrand Chesneau
,
Marion Aubert-Mucca
,
Felix Fremont
,
Jacmine Pechmeja
,
Vincent Soler
et al.
Journal articles
hal-03610074v1
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