Associated Papers
Expanding the Genotype-Phenotype Correlations and Mutational Spectrum in Inherited Retinal Diseases: Novel and Recurrent Mutations.
Sahin I et al.
Cureus, 2024
A Japanese family with cone-rod dystrophy of delayed onset caused by a compound heterozygous combination of novel CDHR1 frameshift and known missense variants.
Haque MN et al.
Human Genome Variation, 2019
30992995 (PubMed )
Supplement: 41439_2019_48_MOESM3_ESM.pdf
A Report on Molecular Diagnostic Testing for Inherited Retinal Dystrophies by Targeted Genetic Analyses.
Ramkumar HL et al.
Genetic Testing and Molecular Biomarkers, 2017
Reevaluation of the Retinal Dystrophy Due to Recessive Alleles of RGR With the Discovery of a Cis-Acting Mutation in CDHR1.
Arno G et al.
Investigative Ophthalmology & Visual Science, 2016
Identification of two novel mutations in CDHR1 in consanguineous Spanish families with autosomal recessive retinal dystrophy.
Nikopoulos K et al.
Scientific Reports, 2015
Nonsyndromic retinitis pigmentosa is highly prevalent in the Jerusalem region with a high frequency of founder mutations.
Sharon D et al.
Molecular Vision, 2015
Whole exome sequencing reveals GUCY2D as a major gene associated with cone and cone-rod dystrophy in Israel.
Lazar CH et al.
Investigative Ophthalmology & Visual Science, 2014
Clinical characteristics of early retinal disease due to CDHR1 mutation.
Ba-Abbad R et al.
Molecular Vision, 2013
Identification of a novel mutation in the CDHR1 gene in a family with recessive retinal degeneration.
Duncan JL et al.
Archives of Ophthalmology (chicago, Ill. : 1960), 2012
Clinical characteristics of recessive retinal degeneration due to mutations in the CDHR1 gene and a review of the literature.
Bessette AP et al.
Ophthalmic Genetics, 0
28885867 (PubMed )
Supplement: supplement_1.docx
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