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Author: personID (integer) : 902643

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

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.
American Journal of Human Genetics, 2019, 104 (2), pp.213-228. ⟨10.1016/j.ajhg.2018.12.010⟩
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.
Human Genetics, 2019, 138 (8-9), pp.1051-1069. ⟨10.1007/s00439-018-1896-x⟩
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.
Human Mutation, 2016, 37 (12), pp.1329-1339. ⟨10.1002/humu.23038⟩
Journal articles hal-01439363v1

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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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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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
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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
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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.
Clinical Genetics, 2016, 89 (5), pp.630-635. ⟨10.1111/cge.12696⟩
Journal articles hal-01237103v1