Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

EYS is a major gene for rod-cone dystrophies in France.

Human mutation - 1 May 2010

Audo Isabelle, Sahel José-Alain, Mohand-Saïd Saddek, Lancelot Marie-Elise, Antonio Aline, Moskova-Doumanova Veselina, Nandrot Emeline F, Doumanov Jordan, Barragan Isabel, Antinolo Guillermo, Bhattacharya Shomi S, Zeitz Christina

Abstract excerpt

Autosomal-recessive retinitis pigmentosa (arRP) was recently associated with mutations in a novel gene EYS, spanning over 2 Mb, making it the largest known gene expressed in the human eye. The purpose of this study was to establish the prevalence and nature of EYS mutations in a clinically well-characterized cohort of 239 sporadic and arRP French cases. Direct sequencing of EYS was performed in 186 subjects for...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Child, Preschool
Share to Codon, Nonsense

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Eye Proteins

Share to France

Share to Genes, Recessive

Share to Oligonucleotide Array Sequence Analysis

Share to Pedigree

Share to Retinitis Pigmentosa

Source

Identifiers

PMID: 20333770
DOI: 10.1002/humu.21249

Genes

EYS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

EYS is a major gene for rod-cone dystrophies in France.PMID 20333770Read ↗

Mutations in the EYS gene account for approximately 5% of autosomal recessive retinitis pigmentosa and cause a fairly homogeneous phenotype.Semantic proximity Read ↗

Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa.Semantic proximity Read ↗

Whole-exome Sequencing Analysis Identifies Mutations in the EYS Gene in Retinitis Pigmentosa in the Indian Population.Semantic proximity Read ↗

Identification of Novel EYS Mutations by Targeted Sequencing Analysis.Semantic proximity Read ↗

Dissecting the role of EYS in retinal degeneration: clinical and molecular aspects and its implications for future therapy.Semantic proximity Read ↗

A Novel Pair of Compound Heterozygous Mutation of EYS in a Han Chinese Family with Retinitis Pigmentosa.Semantic proximity Read ↗

EYS Mutations and Implementation of Minigene Assay for Variant Classification in EYS-Associated Retinitis Pigmentosa in Northern SwedenSemantic proximity Read ↗

EYS mutations and implementation of minigene assay for variant classification in EYS-associated retinitis pigmentosa in northern Sweden.Semantic proximity Read ↗

Autosomal recessive cone-rod dystrophy associated with compound heterozygous mutations in the EYS gene.Semantic proximity Read ↗

"Genetic and clinical findings in an ethnically diverse retinitis pigmentosa cohort associated with pathogenic variants in EYS".Semantic proximity Read ↗

Novel compound heterozygous EYS variants may be associated with arRP in a large Chinese pedigree.Semantic proximity Read ↗

Identification of novel mutations in the ortholog of Drosophila eyes shut gene (EYS) causing autosomal recessive retinitis pigmentosa.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.