Associated Papers
Clinical and Genetic Characterization of RDH12-Retinal Dystrophy in a South American Cohort.
Daich Varela M et al.
Ophthalmology. Retina, 2024
Highly efficient capture approach for the identification of diverse inherited retinal disorders.
Kao HJ et al.
Npj Genomic Medicine, 2024
The genetic landscape of inherited retinal dystrophies in Arabs.
Jaffal L et al.
Bmc Medical Genomics, 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
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
Associations Between Fundus Types and Clinical Manifestations in Patients with RDH12 Gene Mutations.
Jin J et al.
Brain Topography, 2022
ISOLATED MACULOPATHY AND MODERATE ROD-CONE DYSTROPHY REPRESENT THE MILDER END OF THE RDH12-RELATED RETINAL DYSTROPHY SPECTRUM.
De Zaeytijd J et al.
Retina (philadelphia, Pa.), 2021
The genetic landscape of inherited eye disorders in 74 consecutive families from the United Arab Emirates.
Méjécase C et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020
Mutation spectrum and genotype-phenotype correlation of inherited retinal dystrophy in Taiwan.
Chen ZJ et al.
Clinical & Experimental Ophthalmology, 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
PHENOTYPIC VARIABILITY OF RECESSIVE RDH12-ASSOCIATED RETINAL DYSTROPHY.
Zou X et al.
Retina (philadelphia, Pa.), 2019
Efficacy of topical brinzolamide in children with retinal dystrophies.
Scruggs BA et al.
Ophthalmic Genetics, 2019
Mutations in known disease genes account for the majority of autosomal recessive retinal dystrophies.
Patel N et al.
Clinical Genetics, 2018
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
Monies D et al.
Human Genetics, 2017
Elevation deficiency in children with recessive RDH12-related retinopathy.
AlBakri A et al.
Journal of Aapos : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus, 2015
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
Next-generation genetic testing for retinitis pigmentosa.
Neveling K et al.
Human Mutation, 2012
Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa.
Walia S et al.
Ophthalmology, 2010
Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture.
Stone EM
American Journal of Ophthalmology, 2007
Novel RDH12 mutations associated with Leber congenital amaurosis and cone-rod dystrophy: biochemical and clinical evaluations.
Sun W et al.
Vision Research, 2007
RDH12 and RPE65, visual cycle genes causing leber congenital amaurosis, differ in disease expression.
Jacobson SG 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