Bietti Crystalline Corneoretinal Dystrophy Is Caused by Mutations in the Novel Gene CYP4V2

Anren Li, Xiaodong Jiao, Francis L. Munier, +15

The American Journal of Human Genetics

Mendelian DisorderOphthalmologyCorneal DystrophyGenetic DisorderGenetics +4

Missense Mutation in the Alternative Splice Region of the PAX6 Gene in Eye Anomalies

Noriyuki Azuma, Yuki Yamaguchi, Hiroshi Handa, +3

The American Journal of Human Genetics

Eye AnomaliesDevelopmental BiologyOphthalmologyGenetic DisorderGenetics +6

A new L527R mutation of the βIGH3 gene in patients with lattice corneal dystrophy with deep stromal opacities

Keiko Fujiki, Yoshihiro Hotta, K Nakayasu, +4

Human Genetics

Mendelian DisorderNew L527r MutationOphthalmologyCorneal DystrophyGenetic Disorder +5

A Cloud Trust Model in a Security Aware Cloud

Hiroyuki Satō, Atsushi Kanai, Shigeaki Tanimoto

Genetic Linkage of Bietti Crystallin Corneoretinal Dystrophy to Chromosome 4q35

Xiaodong Jiao, Francis L. Munier, Fumino Iwata, +7

The American Journal of Human Genetics

Mendelian DisorderGenetic DisorderGeneticsMolecular BiologyGenetic Linkage +5

Novel mutation (V505D) of the TGFBI gene found in a Chinese family with lattice corneal dystrophy, type I

Xin Tian, Keiko Fujiki, Wei Wang, +4

Japanese Journal of Ophthalmology

Novel MutationChinese FamilyMendelian DisorderOphthalmologyCorneal Dystrophy +6

Clinical Features of Autosomal Dominant Retinitis Pigmentosa With Rhodopsin Gene Codon 17 Mutation and Retinal Neovascularization in a Japanese Patient

Mutsuko Hayakawa, Yoshihiro Hotta, Yoshie Imai, +4

American Journal of Ophthalmology

Ocular DiseaseRetinaOphthalmologyRetinal NeovascularizationPathology +5

Studies on the Mechanism of Early Onset Macular Degeneration in Cynomolgus Monkeys. II. Suppression of Metallothionein Synthesis in the Retina in Oxidative Stress

Marilou G. Nicolas, Keiko Fujiki, Kimie Murayama, +8

Experimental Eye Research

Ocular DiseaseRetinaOphthalmologyCynomolgus MonkeysExperimental Ophthalmology +6

Clinical and Histopathologic Features of Corneal Dystrophies in Japan

Ruth Miyuki Santo, Tatsuo Yamaguchi, Atsushi Kanai, +2

Ophthalmology

OphthalmologyCorneal DystrophySurgical PathologyHistopathologyCorneal Dystrophies +2

Q118X mutation of M1S1 gene caused gelatinous drop-like corneal dystrophy: the p501t of BIGH3 gene found in a family with gelatinous drop-like corneal dystrophy

Nguyen Thanh Ha, Keiko Fujiki, Yoshihiro Hotta, +2

American Journal of Ophthalmology

Bigh3 GeneMendelian DisorderOphthalmologyM1s1 GeneGenetic Disorder +8