Next-generation sequencing confirms the implication ofSLC24A1in autosomal-recessive congenital stationary night blindness-Reference-Cited by-同舟云学术

Next-generation sequencing confirms the implication ofSLC24A1in autosomal-recessive congenital stationary night blindness

Published:2016-03-04 Issue:6 Volume:89 Page:690-699
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Neuillé M.¹,Malaichamy S.²,Vadalà M.³,Michiels C.¹,Condroyer C.¹,Sachidanandam R.⁴,Srilekha S.²,Arokiasamy T.²,Letexier M.⁵,Démontant V.¹,Sahel J.-A.¹⁶⁷⁸⁹,Sen P.¹⁰,Audo I.¹⁶⁷,Soumittra N.²,Zeitz C.¹

Affiliation:

1. Sorbonne Universités, UPMC Univ Paris 06; INSERM, CNRS, Institut de la Vision; Paris France

2. SN ONGC Department of Genetics and Molecular Biology; Vision Research Foundation; Chennai India

3. Ophthalmology Section, Department of Experimental Medicine and Clinical Neuroscience; University of Palermo; Palermo Italy

4. Department of Optometry; Medical Research Foundation; Chennai India

5. IntegraGen SA; Evry France

6. CHNO des Quinze-Vingts, DHU Sight Restore; INSERM-DHOS CIC 1423; Paris France

7. Institute of Ophthalmology; University College of London; London UK

8. Fondation Ophtalmologique Adolphe de Rothschild; Paris France

9. Académie des Sciences; Institut de France; Paris France

10. Department of Vitreo-Retinal Services; Medical Research Foundation; Chennai India

Funder

Foundation Voir et Entendre

Prix Dalloz for ‘la recherche en ophtalmologie’

Fondation pour la Recherche Médicale

Fondation Roland Bailly

Fédération des Aveugles et Amblyopes de France

LABEX LIFESENSES

French State Funds

Agence Nationale de la Recherche

Foundation Fighting Blindness center grant

Indian Council of Medical Research

Institut National de la Santé et de la Recherche Médicale

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference54 articles.

1. Molecular genetics and protein function involved in nocturnal vision;Zeitz;Expert Rev Ophtalmol,2007

2. Congenital stationary night blindness: An analysis and update of genotype-phenotype correlations and pathogenic mechanisms;Zeitz;Prog Retin Eye Res,2015

3. Analysis of the human electroretinogram;Schubert;Ophthalmologica,1952

4. Congenital stationary night blindness with negative electroretinogram. A new classification;Miyake;Arch Ophthalmol,1986

5. The negative ERG: clinical phenotypes and disease mechanisms of inner retinal dysfunction;Audo;Surv Ophthalmol,2008

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