×
Entrez Id:
346007
Gene Symbol:
EYS
EYS
Retinitis Pigmentosa
0.700
GeneticVariation
CLINVAR
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
30718709
2019
×
Entrez Id:
346007
Gene Symbol:
EYS
EYS
Retinitis Pigmentosa
0.700
CausalMutation
CLINVAR
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
30718709
2019
×
Entrez Id:
346007
Gene Symbol:
EYS
EYS
Retinitis Pigmentosa
0.700
GeneticVariation
CLINVAR
A Distinct Phenotype of Eyes Shut Homolog (EYS)-Retinitis Pigmentosa Is Associated With Variants Near the C-Terminus.
29550188
2018
×
Entrez Id:
346007
Gene Symbol:
EYS
EYS
Retinitis Pigmentosa
0.700
GeneticVariation
CLINVAR
NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa.
26667666
2015
×
Entrez Id:
346007
Gene Symbol:
EYS
EYS
Retinitis Pigmentosa
0.700
CausalMutation
CLINVAR
Histopathological comparison of eyes from patients with autosomal recessive retinitis pigmentosa caused by novel EYS mutations.
25491159
2015
×
Entrez Id:
346007
Gene Symbol:
EYS
EYS
Retinitis Pigmentosa
0.700
GeneticVariation
CLINVAR
Whole exome analysis identifies frequent CNGA1 mutations in Japanese population with autosomal recessive retinitis pigmentosa.
25268133
2014
×
Entrez Id:
346007
Gene Symbol:
EYS
EYS
Retinitis Pigmentosa
0.700
GeneticVariation
CLINVAR
Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.
24265693
2013
×
Entrez Id:
346007
Gene Symbol:
EYS
EYS
Retinitis Pigmentosa
0.700
CausalMutation
CLINVAR
A paradigm shift in the delivery of services for diagnosis of inherited retinal disease.
22581970
2012
×
Entrez Id:
346007
Gene Symbol:
EYS
EYS
Retinitis Pigmentosa
0.700
CausalMutation
CLINVAR
Mutation screening of multiple genes in Spanish patients with autosomal recessive retinitis pigmentosa by targeted resequencing.
22164218
2011
×
Entrez Id:
346007
Gene Symbol:
EYS
EYS
Retinitis Pigmentosa
0.700
CausalMutation
CLINVAR
Mutations in the EYS gene account for approximately 5% of autosomal recessive retinitis pigmentosa and cause a fairly homogeneous phenotype.
20537394
2010
×
Entrez Id:
346007
Gene Symbol:
EYS
EYS
Retinitis Pigmentosa
0.700
GeneticVariation
CLINVAR
Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa.
21069908
2010
×
Entrez Id:
346007
Gene Symbol:
EYS
EYS
Retinitis Pigmentosa
0.700
GeneticVariation
CLINVAR
Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa.
18976725
2008