A retGC-1 Mutation in Autosomal Dominant Cone-Rod Dystrophy-Reference-Cited by-同舟云学术

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A retGC-1 Mutation in Autosomal Dominant Cone-Rod Dystrophy

Published:1998-08 Issue:2 Volume:63 Page:651-654
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Perrault Isabelle,Rozet Jean-Michel,Gerber Sylvie,Kelsell Rosemary E.,Souied Eric,Cabot Annick,Hunt David M.,Munnich Arnold,Kaplan Josseline

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference18 articles.

1. Retinal photoreceptor dystrophies LI. Edward Jackson Memorial Lecture;Bird;Am J Ophthalmol,1995

2. Genetic linkage of cone-rod retinal dystrophy to chromosome 19q and evidence for segregation distortion;Evans;Nat Genet,1994

3. Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor;Freund;Cell,1997

4. RP cone-rod degeneration;Heckenlively;Trans Am Ophthalmol Soc,1987

5. Localisation of a gene for dominant cone-rod dystrophy (CORD6) to chromosome 17p;Kelsell;Hum Mol Genet,1997

Cited by 74 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A GUCY2D variant associated cone-rod dystrophy with electronegative ERG: A case report and review;American Journal of Ophthalmology Case Reports;2024-12

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

3. Structural view of G protein-coupled receptor signaling in the retinal rod outer segment;Trends in Biochemical Sciences;2023-02

4. Phenotypic characterization of autosomal dominant progressive cone dystrophies associated with a heterozygous variant c.2512C>T of GUCY2D gene in a large kindred;Eye;2022-12-12

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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