Associated Papers
Genetics and Clinical Findings Associated with Early-Onset Myopia and Retinal Detachment in Saudi Arabia.
AlEissa MM et al.
Genes, 2025
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.
Hitti-Malin RJ et al.
Biomolecules, 2024
Adaptive Optics Retinal Imaging in RDH12-Associated Early Onset Severe Retinal Dystrophy.
Daich Varela M et al.
Investigative Ophthalmology & Visual Science, 2024
Clinical and Genetic Characterization of RDH12-Retinal Dystrophy in a South American Cohort.
Daich Varela M et al.
Ophthalmology. Retina, 2024
Clinical and Genetic Analysis of RDH12-Associated Retinopathy in 27 Chinese Families: A Hypomorphic Allele Leads to Cone-Rod Dystrophy.
Wang J et al.
Investigative Ophthalmology & Visual Science, 2022
RDH12 retinopathy: clinical features, biology, genetics and future directions.
Daich Varela M et al.
Ophthalmic Genetics, 2022
Panel-based genetic testing for inherited retinal disease screening 176 genes.
Sheck LHN et al.
Molecular Genetics & Genomic Medicine, 2021
Involvement of Oxidative and Endoplasmic Reticulum Stress in RDH12-Related Retinopathies.
Sarkar H et al.
International Journal of Molecular Sciences, 2021
Clinical and molecular findings in a cohort of 152 Brazilian severe early onset inherited retinal dystrophy patients.
Sallum JMF et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020
Detailed clinical characterisation, unique features and natural history of autosomal recessive RDH12-associated retinal degeneration.
Fahim AT et al.
The British Journal of Ophthalmology, 2019
Retinol dehydrogenase 12 (RDH12): Role in vision, retinal disease and future perspectives.
Sarkar H et al.
Experimental Eye Research, 2019
Natural History and Genotype-Phenotype Correlations in RDH12-Associated Retinal Degeneration.
Fahim AT et al.
Advances in Experimental Medicine and Biology, 2019
Structural Insights into the Drosophila melanogaster Retinol Dehydrogenase, a Member of the Short-Chain Dehydrogenase/Reductase Family.
Hofmann L et al.
Biochemistry, 2016
Exome Sequencing Identified a Recessive RDH12 Mutation in a Family with Severe Early-Onset Retinitis Pigmentosa.
Gong B et al.
Journal of Ophthalmology, 2015
Mutations that are a common cause of Leber congenital amaurosis in northern America are rare in southern India.
Sundaresan P et al.
Molecular Vision, 2009
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Overproduction of bioactive retinoic acid in cells expressing disease-associated mutants of retinol dehydrogenase 12.
Lee SA et al.
The Journal of Biological Chemistry, 2007
Novel RDH12 mutations associated with Leber congenital amaurosis and cone-rod dystrophy: biochemical and clinical evaluations.
Sun W et al.
Vision Research, 2007
The phenotype of early-onset retinal degeneration in persons with RDH12 mutations.
Schuster A et al.
Investigative Ophthalmology & Visual Science, 2007
Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle.
Thompson DA et al.
Human Molecular Genetics, 2005
Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis.
Perrault I et al.
American Journal of Human Genetics, 2004
Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy.
Janecke AR et al.
Nature Genetics, 2004