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

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Whole exome sequencing to identify genetic markers for trastuzumab-induced cardiotoxicity.Special Issue Introduction: Inherited Retinal Disease: Novel Candidate Genes, Genotype-Phenotype Correlations, and Inheritance Models.

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

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2017 nî lūn-bûn

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2017年の論文

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EYS Mutations Causing Autosoma ...... tion with Disease Progression.

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EYS Mutations Causing Autosoma ...... tion with Disease Progression.

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EYS Mutations Causing Autosoma ...... tion with Disease Progression.

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EYS Mutations Causing Autosoma ...... tion with Disease Progression.

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Alejandro J Roman

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Alexander Sumaroka

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Alexandra V Garafalo

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Artur V Cideciyan

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Monica Lu

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Vaishnavi Batmanabane

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P2860

Two novel mutations in the EYS gene are possible major causes of autosomal recessive retinitis pigmentosa in the Japanese population

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

EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa

Retinal remodeling in human retinitis pigmentosa

Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination

Centrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosis

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

Characterization of outer retinal morphology with high-speed, ultrahigh-resolution optical coherence tomography.

Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy success.

Spectral-domain optical coherence tomography measures of outer segment layer progression in patients with X-linked retinitis pigmentosa.

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scholarly article

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10.3390/GENES8070178

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2017-07-12T00:00:00Z

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5541311

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

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P2860

P2860

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

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P932