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ARVO Annual Meeting Abstract June 2020

Novel missense mutations in PRPF6 cause autosomal dominant retinitis pigmentosa with incomplete penetrance and impairment of PRPF6 protein localization within the nucleus

Guillaume OLIVIER; Beatrice BOCQUET; Carlo Rivolta; Ervann Andreo; Agnes Muller; Christian Hamel; Alice MASUREL; Catherine P Creuzot Garcher; Laurence FAIVRE; Isabelle Anne Meunier; Gael Manes

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):2401. doi:

ARVO Annual Meeting Abstract July 2019

Prevalence and phenotypes/genotypes of CRB1 retinal dystrophies

Beatrice BOCQUET; Claire-Marie Dhaenens; Isabelle Perrault; Jean-Michel Rozet; Josseline Kaplan; Anne Francoise Roux; Dalil Hamroun; Gabriel Gardes; Gael Manes; Elfride De Baere; Bart P Leroy; Vasiliki Kalatzis; Isabelle Anne Meunier

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):2948. doi:

ARVO Annual Meeting Abstract July 2019

Syndromic inherited retinal dystrophies in a national reference centre specialized in inherited sensory diseases.

Isabelle Anne Meunier; Beatrice BOCQUET; Catherine Blanchet; Sabine defoort; Agathe Roubertie; Marjorlaine Willems; david genevieve; Patricia Blanchet; Vasiliki Kalatzis; camille lemattre

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):3970. doi:

ARVO Annual Meeting Abstract July 2019

Phenotype variations of retinal dystrophies caused by mutations in the PDE6β gene (MIM#613801)

Le Meur Guylene; Pierre Lebranchu; Mathilde Giraud; Fanny Billaud; Beatrice BOCQUET; Marie-Noelle Delyfer; Didier Lacombe; Stéphane Bézieau; Isabelle Anne Meunier; Michel Weber

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):4496. doi:

ARVO Annual Meeting Abstract July 2018

Clinical data and natural history of retinitis punctata albescent with RLBP1 mutations for the purpose of gene therapy.

Isabelle Meunier; Hicham El Alami; Beatrice Bocquet

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):2334. doi:

ARVO Annual Meeting Abstract June 2013

Screening of PRPH2/RDS in patients with autosomal dominant retinitis pigmentosa reveals novel disease-causing mutations and 8.6% prevalence in French population

Gael Manes; Claire-Marie Dhaenens; Werner Vos; Isabelle Audo; Xavier Zanlonghi; Sylvie Odent; Helene Dollfus; Beatrice Bocquet; Isabelle Meunier; Christian Hamel

Invest. Ophthalmol. Vis. Sci.. 2013; 54(15):659. doi:

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