Condition: Retinitis Pigmentosa 25


rs142450703 in EYS gene and Retinitis Pigmentosa 25 PMID 21069908 2010 Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa.

PMID 20696082 2010 Identification of a novel homozygous nonsense mutation in EYS in a Chinese family with autosomal recessive retinitis pigmentosa.

PMID 20333770 2010 EYS is a major gene for rod-cone dystrophies in France.

PMID 18976725 2008 Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa.

PMID 18836446 2008 EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa.

PMID 28704921 2017 EYS Mutations Causing Autosomal Recessive Retinitis Pigmentosa: Changes of Retinal Structure and Function with Disease Progression.

PMID 27208204 2016 Molecular findings from 537 individuals with inherited retinal disease.

PMID 26667666 2015 NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa.

PMID 25097241 2014 Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa.

PMID 26787102 2016 Whole-exome Sequencing Analysis Identifies Mutations in the EYS Gene in Retinitis Pigmentosa in the Indian Population.

PMID 25491159 2015 Histopathological comparison of eyes from patients with autosomal recessive retinitis pigmentosa caused by novel EYS mutations.

PMID 21217109 2011 High-resolution homozygosity mapping is a powerful tool to detect novel mutations causative of autosomal recessive RP in the Dutch population.

rs758109813 in EYS;LOC107986608 gene and Retinitis Pigmentosa 25 PMID 20537394 2010 Mutations in the EYS gene account for approximately 5% of autosomal recessive retinitis pigmentosa and cause a fairly homogeneous phenotype.

PMID 25412400 2015 Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing.

PMID 20333770 2010 EYS is a major gene for rod-cone dystrophies in France.

rs137853190 in EYS;PHF3 gene and Retinitis Pigmentosa 25 PMID 18976725 2008 Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa.

PMID 21069908 2010 Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa.

PMID 26161267 2015 Retinitis Pigmentosa with EYS Mutations Is the Most Prevalent Inherited Retinal Dystrophy in Japanese Populations.

PMID 20375346 2010 Novel null mutations in the EYS gene are a frequent cause of autosomal recessive retinitis pigmentosa in the Israeli population.

PMID 24474277 2014 Identification of mutations causing inherited retinal degenerations in the israeli and palestinian populations using homozygosity mapping.

PMID 26261414 2015 Nonsyndromic retinitis pigmentosa is highly prevalent in the Jerusalem region with a high frequency of founder mutations.

rs528919874 in PHF3;EYS gene and Retinitis Pigmentosa 25 PMID 20537394 2010 Mutations in the EYS gene account for approximately 5% of autosomal recessive retinitis pigmentosa and cause a fairly homogeneous phenotype.