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Relative Frequencies of Inherited Retinal Dystrophies and Optic Neuropathies in Southern France: Assessment of 21-year Data Management

Béatrice Bocquet , Annie Lacroux , Marie-Odile Surget , Corinne Baudoin , Virginie Marquette et al.
Ophthalmic Epidemiology, 2013, 20 (1), pp.13-25. ⟨10.3109/09286586.2012.737890⟩
Journal articles hal-02446185v1
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IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype

Isabelle Perrault , Jan Halbritter , Jonathan D. Porath , Xavier Gerard , Daniela A. Braun et al.
Journal of Medical Genetics, 2015, 52 (10), pp.657-665. ⟨10.1136/jmedgenet-2014-102838⟩
Journal articles pasteur-01301204v1
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MCAT Mutations Cause Nuclear LHON-like Optic Neuropathy

Sylvie Gerber , Christophe Orssaud , Josseline Kaplan , Catrine Johansson , Jean-Michel Rozet et al.
Genes, 2021, 12 (4), pp.521. ⟨10.3390/genes12040521⟩
Journal articles hal-03247014v1
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Congenital Microcoria: Clinical Features and Molecular Genetics

Clémentine Angée , Brigitte Nedelec , Elisa Erjavec , Jean-Michel Rozet , Lucas Fares Taie et al.
Genes, 2021, 12 (5), pp.624. ⟨10.3390/genes12050624⟩
Journal articles hal-03239240v1

Incomplete penetrance of biallelic ALDH1A3 mutations

Julie Plaisancié , Dominique Brémond-Gignac , Bénédicte Demeer , Véronique Gaston , Alain Verloes et al.
European Journal of Medical Genetics, 2016, 59 (4), pp.215-218. ⟨10.1016/j.ejmg.2016.02.004⟩
Journal articles hal-03159189v1
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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