Associated Papers
MAGI-ACMG: Algorithm for the Classification of Variants According to ACMG and ACGS Recommendations.
Cristofoli F et al.
Genes, 2023
37628650 (PubMed )
Supplement: genes-14-01600-s001.zip › genes-2481925-supplementary.xlsx › totale
Novel variants in the RDH5 Gene in a Chinese Han family with fundus albipunctatus.
Qian T et al.
Bmc Ophthalmology, 2022
Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy.
Birtel J et al.
Scientific Reports, 2018
29555955 (PubMed )
Supplement: 41598_2018_22096_MOESM1_ESM.pdf
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
SNPdbe: constructing an nsSNP functional impacts database.
Schaefer C et al.
Bioinformatics (oxford, England), 2012
Novel mutations in RDH5 cause fundus albipunctatus in two consanguineous Pakistani families.
Ajmal M et al.
Molecular Vision, 2012
Compound heterozygous RDH5 mutations in familial fleck retina with night blindness.
Hayashi T et al.
Acta Ophthalmologica Scandinavica, 2006
[Clinical and genetic findings in a patient with fundus albipunctatus].
Rüther K et al.
Der Ophthalmologe : Zeitschrift Der Deutschen Ophthalmologischen Gesellschaft, 2004
Biochemical defects in 11-cis-retinol dehydrogenase mutants associated with fundus albipunctatus.
Lidén M et al.
The Journal of Biological Chemistry, 2001
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
A novel homozygous Gly107Arg mutation in the RDH5 gene in a Japanese patient with fundus albipunctatus with sectorial retinitis pigmentosa.
Sato M et al.
Ophthalmic Research, 0
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