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List of works by Cécile Méjécase

A Novel Heterozygous Missense Mutation in GNAT1 Leads to Autosomal Dominant Riggs Type of Congenital Stationary Night Blindness.

scientific article

A novel nonsense variant in REEP6 is involved in a sporadic rod-cone dystrophy case.

scientific article published on 9 November 2017

ARL2BP mutations account for 0.1% of autosomal recessive rod-cone dystrophies with the report of a novel splice variant.

scientific article

Expanding the Mutation Spectrum in : Sixty Novel Disease Causing Variants and Their Associated Phenotype in a Large French Stargardt Cohort

article

Further Insights into the Ciliary Gene and Protein KIZ and Its Murine Ortholog PLK1S1 Mutated in Rod-Cone Dystrophy.

scientific article

Generation of human induced pluripotent stem cell lines from a patient with ITM2B-related retinal dystrophy and a non mutated brother

scientific article published on 05 November 2019

Identification of a Novel Homozygous Nonsense Mutation Confirms the Implication of GNAT1 in Rod-Cone Dystrophy

scientific article

Longitudinal Clinical Follow-up and Genetic Spectrum of Patients With Rod-Cone Dystrophy Associated With Mutations in PDE6A and PDE6B

scientific article published on 01 June 2019

MERTK mutations update in inherited retinal diseases.

scientific article published on 16 April 2018

Peripapillary Sparing With Near Infrared Autofluorescence Correlates With Electroretinographic Findings in Patients With Stargardt Disease

scientific article published on 01 December 2019

Practical guide to genetic screening for inherited eye diseases

scientific article published on 01 January 2020

Prevalence of ABCA4 Deep-Intronic Variants and Related Phenotype in An Unsolved "One-Hit" Cohort with Stargardt Disease

scientific article published on 11 October 2019

WDR34, a candidate gene for non-syndromic rod-cone dystrophy

scientific article published on 30 October 2020

Whole exome sequencing resolves complex phenotype and identifies CC2D2A mutations underlying non-syndromic rod-cone dystrophy

scientific article published on 04 November 2018

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