Novel Mutations in theKCNV2Gene in Patients with Cone Dystrophy and a Supernormal Rod Electroretinogram-Reference-Cited by-同舟云学术

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Novel Mutations in theKCNV2Gene in Patients with Cone Dystrophy and a Supernormal Rod Electroretinogram

Published:2007-01 Issue:3 Volume:28 Page:135-142
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Thiagalingam Sureka,McGee Terri L.,Weleber Richard G.,Sandberg Michael A.,Trzupek Karmen M.,Berson Eliot L.,Dryja Thaddeus P.

Publisher

Informa UK Limited

Subject

Genetics (clinical),Ophthalmology,Pediatrics, Perinatology and Child Health

Link

http://www.tandfonline.com/doi/pdf/10.1080/13816810701503681

Reference19 articles.

1. Cone Dystrophy, Nyctalopia, and Supernormal Rod Responses

2. Supernormal scotopic ERG in cone dystrophy.

3. Cone dystrophy and supernormal dark-adapted b-waves in the electroretinogram

4. Retinal cone dysfunction of supernormal rod ERG type

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1. Novel and Previously Known Mutations of the KCNV2 Gene Cause Various Variants of the Clinical Course of Cone Dystrophy with Supernormal Rod Response in Children;Journal of Clinical Medicine;2024-08-06

2. Natural history and biomarkers of KCNV2‐associated retinopathy;Clinical & Experimental Ophthalmology;2024-03-05

3. The endoplasmic reticulum: Homeostasis and crosstalk in retinal health and disease;Progress in Retinal and Eye Research;2024-01

4. Clinical Visual Electrophysiology: A Tool for Studying Inherited Retinal Disorders;Essentials in Ophthalmology;2024

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

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