Associated Papers
Real-world evaluation of gnomAD variant co-occurrence information for haplotype phasing in autosomal recessive disorders.
Kim J et al.
Human Genomics, 2025
41331868 (PubMed )
Supplement: 40246_2025_855_MOESM1_ESM.xlsx › Table_S1.
Advancements and future directions in Oguchi disease research.
Fan F et al.
International Ophthalmology, 2025
Case of maternal uniparental isodisomy with autosomal recessive Alport syndrome combined with congenital myasthenia and Oguchi disease.
Akiyama M et al.
Cen Case Reports, 2025
Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole-exome sequencing.
Suga A et al.
Human Mutation, 2022
36284460 (PubMed )
Supplement: supplement_1.xlsx › S2-1
Two novel compound heterozygous SAG mutations in an Italian patient with Oguchi disease: A genetic and multimodal retinal imaging study.
Pilotto E et al.
European Journal of Ophthalmology, 2022
Oguchi's disease: two cases and literature review.
Dai Y et al.
The Journal of International Medical Research, 2021
Oguchi disease caused by a homozygous novel SAG splicing alteration associated with the multiple evanescent white dot syndrome: A 15-month follow-up.
Liu X et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2020
Phenotypic Features of Oguchi Disease and Retinitis Pigmentosa in Patients with S-Antigen Mutations: A Long-Term Follow-up Study.
Nishiguchi KM et al.
Ophthalmology, 2019
Association of Retinal Artery and Other Inner Retinal Structures With Distribution of Tapetal-like Reflex in Oguchi's Disease.
Kato Y et al.
Investigative Ophthalmology & Visual Science, 2015
Whole exome analysis identifies frequent CNGA1 mutations in Japanese population with autosomal recessive retinitis pigmentosa.
Katagiri S et al.
Plos One, 2014
A Chinese family with Oguchi's disease due to compound heterozygosity including a novel deletion in the arrestin gene.
Huang L et al.
Molecular Vision, 2012
A nonsense mutation in S-antigen (p.Glu306*) causes Oguchi disease.
Waheed NK et al.
Molecular Vision, 2012
Macular Dysfunction in Oguchi Disease with the Frequent Mutation 1147delA in the SAG Gene.
Hayashi T et al.
Ophthalmic Research, 2011
Oguchi disease masked by retinitis pigmentosa.
Sonoyama H et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2011
Rapid detection of SAG 926delA mutation using real-time polymerase chain reaction.
Yoshida S et al.
Molecular Vision, 2006
Gene analysis and evaluation of the single founder effect in Japanese patients with Oguchi disease.
Saga M et al.
Japanese Journal of Ophthalmology, 0
Select a paper to view details