Associated Papers
Age-Stratified Genetic Spectrum of Retinitis Pigmentosa in Korean Patients: Predominance of RPGR Variants in Early-Onset Disease.
Hong YJ et al.
Annals of Laboratory Medicine, 2025
Clinical Exome-Based Redefinition and Reclassification of Retinitis Pigmentosa.
Park HS et al.
Journal of Korean Medical Science, 2025
The Structural Abnormalities Are Deeply Involved in the Cause of RPGRIP1-Related Retinal Dystrophy in Japanese Patients.
Torii K et al.
International Journal of Molecular Sciences, 2023
Precision Medicine through Next-Generation Sequencing in Inherited Eye Diseases in a Korean Cohort.
Moon D et al.
Genes, 2021
Retinal Degeneration Associated With RPGRIP1: A Review of Natural History, Mutation Spectrum, and Genotype-Phenotype Correlation in 228 Patients.
Beryozkin A et al.
Frontiers in Cell and Developmental Biology, 2021
Copy number variations and multiallelic variants in Korean patients with Leber congenital amaurosis.
Surl D et al.
Molecular Vision, 2020
Retinal structure in Leber's congenital amaurosis caused by RPGRIP1 mutations.
Miyamichi D et al.
Human Genome Variation, 2019
Molecular Diagnosis of 34 Japanese Families with Leber Congenital Amaurosis Using Targeted Next Generation Sequencing.
Hosono K et al.
Scientific Reports, 2018
Diagnostic application of clinical exome sequencing in Leber congenital amaurosis.
Han J et al.
Molecular Vision, 2017
Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort.
Wang H et al.
Investigative Ophthalmology & Visual Science, 2015
Mutational screening of LCA genes emphasizing RPE65 in South Indian cohort of patients.
Verma A et al.
Plos One, 2013
Molecular characterization of Leber congenital amaurosis in Koreans.
Seong MW et al.
Molecular Vision, 2008
[A study of PDE6B gene mutation and phenotype in Chinese cases with retinitis pigmentosa].
Cui Y et al.
[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2003
Select a paper to view details