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Author: personID (integer) : 853869

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.
European Journal of Human Genetics, 2016, 24 (7), pp.992-1000. ⟨10.1038/ejhg.2015.250⟩
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.
Human Genetics, 2019, 138 (8-9), pp.1051-1069. ⟨10.1007/s00439-018-1896-x⟩
Journal articles hal-01863370v1

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.
Human Mutation, 2009, 30 (5), pp.E673-81. ⟨10.1002/humu.21023⟩
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.
Genome Research, 2016, 26 (4), pp.474-485. ⟨10.1101/gr.196048.115⟩
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.
Movement Disorders, 2011, 26 (9), pp.1775 - 1776. ⟨10.1002/mds.23641⟩
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.
American Journal of Human Genetics, 2015, 96 (4), pp.631-639. ⟨10.1016/j.ajhg.2015.01.014⟩
Journal articles hal-01134461v1

Non-USH2A mutations in USH2 patients.

Thomas Besnard , Christel Vaché , David Baux , Lise Larrieu , Caroline Abadie et al.
Human Mutation, 2012, 33 (3), pp.504-10. ⟨10.1002/humu.22004⟩
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.
Clinical Genetics, 2022, 101 (5-6), pp.494-506. ⟨10.1111/cge.14123⟩
Journal articles hal-03610074v1