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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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Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway
Justyna A. Karolak
,
Marie Vincent
,
Gail Deutsch
,
Tomasz Gambin
,
Benjamin Cogne
et al.
Journal articles
hal-02461467v1
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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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Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway
Christèle Dubourg
,
Wilfrid Carré
,
Houda Hamdi-Rozé
,
Charlotte Mouden
,
Joëlle Roume
et al.
Journal articles
hal-01439363v1
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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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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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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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Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: A 7-year national survey
Mathilde Lefebvre
,
Damien Sanlaville
,
Nathalie Marle
,
Christel Thauvin-Robinet
,
Élodie Gautier
et al.
Journal articles
hal-01237103v1
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