Novel variants in GUCY2D causing retinopathy and the genotype-phenotype correlation-Reference-Cited by-同舟云学术

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Novel variants in GUCY2D causing retinopathy and the genotype-phenotype correlation

Published:2021-07 Issue: Volume:208 Page:108637
ISSN:0014-4835
Container-title:Experimental Eye Research
language:en
Short-container-title:Experimental Eye Research

Author:

Yi Zhen,Sun Wenmin,Xiao Xueshan,Li Shiqiang,Jia Xiaoyun,Li Xueqing,Yu Bilin,Wang Panfeng,Zhang Qingjiong

Funder

National Natural Science Foundation of China

Publisher

Elsevier BV

Subject

Cellular and Molecular Neuroscience,Sensory Systems,Ophthalmology

Reference52 articles.

1. Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy;Birtel;Sci. Rep.,2018

2. Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation;Boulanger-Scemama;Orphanet J. Rare Dis.,2015

3. GUCY2D-Associated leber congenital amaurosis: a retrospective natural history study in preparation for trials of novel therapies;Bouzia;Am. J. Ophthalmol.,2020

4. A gene for Leber's congenital amaurosis maps to chromosome 17p;Camuzat;Hum. Mol. Genet.,1995

5. Comprehensive mutation analysis by whole-exome sequencing in 41 Chinese families with Leber congenital amaurosis;Chen;Invest. Ophthalmol. Vis. Sci.,2013

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1. Comprehensive Genotyping and Phenotyping Analysis of GUCY2D-Associated Rod- and Cone-Dominated Dystrophies;American Journal of Ophthalmology;2023-10

2. cGMP Signaling in Photoreceptor Degeneration;International Journal of Molecular Sciences;2023-07-07

3. FDXR-Associated Oculopathy: Congenital Amaurosis and Early-Onset Severe Retinal Dystrophy as Common Presenting Features in a Chinese Population;Genes;2023-04-21

4. Preliminary characterization of a novel form of progressive retinal atrophy in the German Spitz dog associated with a frameshift mutation in GUCY2D;Veterinary Ophthalmology;2023-03-05

5. Clinical and Genetic Analysis of RDH12-Associated Retinopathy in 27 Chinese Families: A Hypomorphic Allele Leads to Cone-Rod Dystrophy;Investigative Opthalmology & Visual Science;2022-08-22

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