Associated Papers
Clinical and genetic landscape of IRD in Portugal: pooled data from the nationwide IRD-PT registry.
Marta A et al.
Npj Genomic Medicine, 2025
TIMP3 c.319C>T, p.(Arg107Cys): Novel Sequence Variant In Sorsby Fundus Dystrophy.
Hristova R et al.
Nepalese Journal of Ophthalmology : a Biannual Peer-reviewed Academic Journal of the Nepal Ophthalmic Society : Nepjoph, 2024
A large animal model of RDH5-associated retinopathy recapitulates important features of the human phenotype.
Occelli LM et al.
Human Molecular Genetics, 2022
Fundus albipunctatus: review of the literature and report of a novel RDH5 gene mutation affecting the invariant tyrosine (p.Tyr175Phe).
Skorczyk-Werner A et al.
Journal of Applied Genetics, 2015
Congenital stationary night blindness: an analysis and update of genotype-phenotype correlations and pathogenic mechanisms.
Zeitz C et al.
Progress in Retinal and Eye Research, 2015
Novel mutations in RDH5 cause fundus albipunctatus in two consanguineous Pakistani families.
Ajmal M et al.
Molecular Vision, 2012
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Compound heterozygous RDH5 mutations in familial fleck retina with night blindness.
Hayashi T et al.
Acta Ophthalmologica Scandinavica, 2006
A study to survey susceptible genetic factors responsible for troglitazone-associated hepatotoxicity in Japanese patients with type 2 diabetes mellitus.
Watanabe I et al.
Clinical Pharmacology and Therapeutics, 2003
Biochemical defects in 11-cis-retinol dehydrogenase mutants associated with fundus albipunctatus.
Lidén M et al.
The Journal of Biological Chemistry, 2001
Null mutation in the human 11-cis retinol dehydrogenase gene associated with fundus albipunctatus.
Driessen CA et al.
Ophthalmology, 2001
Mutations in the 11-cis retinol dehydrogenase gene in Japanese patients with Fundus albipunctatus.
Hirose E et al.
Investigative Ophthalmology & Visual Science, 2000
A novel compound heterozygous mutation in the RDH5 gene in a patient with fundus albipunctatus.
Kuroiwa S et al.
American Journal of Ophthalmology, 2000
Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus.
Yamamoto H et al.
Nature Genetics, 1999
Rod and cone visual cycle consequences of a null mutation in the 11-cis-retinol dehydrogenase gene in man.
Cideciyan AV et al.
Visual Neuroscience, 0
Lack of autofluorescence in fundus albipunctatus associated with mutations in RDH5.
Schatz P et al.
Retina (philadelphia, Pa.), 0