Associated Papers
Enhancing Molecular Diagnostic Accuracy in Genetic Eye Disorders Through a Personalized Re-Evaluation Strategy.
Martins PM et al.
Investigative Ophthalmology & Visual Science, 2026
Genetic Spectrum of Negative Electroretinograms in a Predominantly Pediatric Cohort of 177 Patients.
Zaslavsky K et al.
Investigative Ophthalmology & Visual Science, 2025
Clinical and genetic landscape of IRD in Portugal: pooled data from the nationwide IRD-PT registry.
Marta A et al.
Npj Genomic Medicine, 2025
The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis.
Peter VG et al.
Pnas Nexus, 2023
Shared and divergent contribution of vitamin A and oxytocin to the aetiology of autism spectrum disorder.
Wang T et al.
Computational and Structural Biotechnology Journal, 2023
Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole-exome sequencing.
Suga A et al.
Human Mutation, 2022
A large animal model of RDH5-associated retinopathy recapitulates important features of the human phenotype.
Occelli LM et al.
Human Molecular Genetics, 2022
Novel variants in the RDH5 Gene in a Chinese Han family with fundus albipunctatus.
Qian T et al.
Bmc Ophthalmology, 2022
A high definition picture of somatic mutations in chronic lymphoproliferative disorder of natural killer cells.
Gasparini VR et al.
Blood Cancer Journal, 2020
RDH5-Related Fundus Albipunctatus in a Large Japanese Cohort.
Katagiri S et al.
Investigative Ophthalmology & Visual Science, 2020
Extensive genic and allelic heterogeneity underlying inherited retinal dystrophies in Mexican patients molecularly analyzed by next-generation sequencing.
Zenteno JC et al.
Molecular Genetics & Genomic Medicine, 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
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
Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing.
Consugar MB et al.
Genetics in Medicine : Official Journal of the American College of Medical 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
Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements.
Wang F et al.
Human Genetics, 2014
Novel mutations in RDH5 cause fundus albipunctatus in two consanguineous Pakistani families.
Ajmal M et al.
Molecular Vision, 2012
Novel RDH5 mutation in family with mother having fundus albipunctatus and three children with retinitis pigmentosa.
Wang C et al.
Ophthalmic Genetics, 2008
Compound heterozygous RDH5 mutations in familial fleck retina with night blindness.
Hayashi T et al.
Acta Ophthalmologica Scandinavica, 2006
Cone and rod dysfunction in fundus albipunctatus with RDH5 mutation: an electrophysiological study.
Niwa Y et al.
Investigative Ophthalmology & Visual Science, 2005
Young monozygotic twin sisters with fundus albipunctatus and cone dystrophy.
Nakamura M et al.
Archives of Ophthalmology (chicago, Ill. : 1960), 2004
Structure and function of retinol dehydrogenases of the short chain dehydrogenase/reductase family.
Lidén M et al.
Molecular Aspects of Medicine, 2003
RDH5 gene mutations and electroretinogram in fundus albipunctatus with or without macular dystrophy: RDH5 mutations and ERG in fundus albipunctatus.
Nakamura M et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2003
Biochemical defects in 11-cis-retinol dehydrogenase mutants associated with fundus albipunctatus.
Lidén M et al.
The Journal of Biological Chemistry, 2001
A high association with cone dystrophy in Fundus albipunctatus caused by mutations of the RDH5 gene.
Nakamura M 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
11-cis retinol dehydrogenase mutations as a major cause of the congenital night-blindness disorder known as fundus albipunctatus.
Gonzalez-Fernandez F et al.
Molecular Vision, 1999
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