Mutations in the Gene KCNV2 Encoding a Voltage-Gated Potassium Channel Subunit Cause “Cone Dystrophy with Supernormal Rod Electroretinogram” in Humans-Reference-Cited by-同舟云学术

Mutations in the Gene KCNV2 Encoding a Voltage-Gated Potassium Channel Subunit Cause “Cone Dystrophy with Supernormal Rod Electroretinogram” in Humans

Published:2006-09 Issue:3 Volume:79 Page:574-579
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Wu Huimin,Cowing Jill A.,Michaelides Michel,Wilkie Susan E.,Jeffery Glen,Jenkins Sharon A.,Mester Viktoria,Bird Alan C.,Robson Anthony G.,Holder Graham E.,Moore Anthony T.,Hunt David M.,Webster Andrew R.

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference16 articles.

1. Cone dystrophy, nyctalopia, and supernormal rod responses: a new retinal degeneration;Gouras;Arch Ophthalmol,1983

2. Retinal cone dysfunction of supernormal rod ERG type: five new cases;Rosenberg;Acta Ophthalmol (Copenh),1993

3. Rod electroretinograms in an elevated cyclic guanosine monophosphate-type human retinal degeneration: comparison with retinitis pigmentosa;Sandberg;Invest Ophthalmol Vis Sci,1990

4. Cone dysfunction and supernormal scotopic electroretinogram with a high-intensity stimulus: a report of three cases;Kato;Doc Ophthalmol,1993

5. A detailed phenotypic study of “cone dystrophy with supernormal rod ERG”;Michaelides;Br J Ophthalmol,2005

Cited by 104 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. Electrically silent KvS subunits associate with native Kv2 channels in brain and impact diverse properties of channel function;2024-01-25

2. Machine learning hypothesis-generation for patient stratification and target discovery in rare disease: our experience with Open Science in ALS;Frontiers in Computational Neuroscience;2024-01-04

3. Phenotyping and genotyping inherited retinal diseases: Molecular genetics, clinical and imaging features, and therapeutics of macular dystrophies, cone and cone-rod dystrophies, rod-cone dystrophies, leber congenital amaurosis, and cone dysfunction syndromes;Progress in Retinal and Eye Research;2024-01

4. Cone dystrophy with supernormal rod response – A rare case report;Indian Journal of Ophthalmology - Case Reports;2024

5. Application of Electrophysiology in Non-Macular Inherited Retinal Dystrophies;Journal of Clinical Medicine;2023-11-06