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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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Expanding the phenotype of the X-linked BCOR microphthalmia syndromes
Nicola Ragge
,
Bertrand Isidor
,
Pierre Bitoun
,
Sylvie Odent
,
Irina Giurgea
et al.
Journal articles
hal-01863370v1
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Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmia.
Nicolas Chassaing
,
Christelle Golzio
,
Sylvie Odent
,
Léopoldine Lequeux
,
Adeline Vigouroux
et al.
Journal articles
inserm-00372285v1
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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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Singular DYT6 phenotypes in association with new THAP1 frameshift mutations
Arnaud Blanchard
,
Agathe Roubertie
,
Marion Simonetta-Moreau
,
Vuthy Ea
,
Coline Coquart
et al.
Journal articles
hal-01670065v1
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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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Non-USH2A mutations in USH2 patients.
Thomas Besnard
,
Christel Vaché
,
David Baux
,
Lise Larrieu
,
Caroline Abadie
et al.
Journal articles
istex
inserm-00650795v1
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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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