Associated Papers
Disease progression in IMPDH1 gene-associated rod-cone dystrophy caused by a rare p.Thr244Pro heterozygous variant.
Barboni M et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2026
Retinopathy-associated inosine monophosphate dehydrogenase 1 mutations cause metabolic and filament defects in cones.
Rutter KM et al.
Disease Models & Mechanisms, 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
Expanding the Mutation Spectrum for Inherited Retinal Diseases.
Lynn J et al.
Genes, 2024
Whole-Exome Analysis for Polish Caucasian Patients with Retinal Dystrophies and the Creation of a Reference Genomic Database for the Polish Population.
Matczyńska E et al.
Genes, 2024
Spectrum of variants associated with inherited retinal dystrophies in Northeast Mexico.
Villafuerte-de la Cruz RA et al.
Bmc Ophthalmology, 2024
A systematic review of inherited retinal dystrophies in Pakistan: updates from 1999 to April 2023.
Munir A et al.
Bmc Ophthalmology, 2024
IMPDH1-associated autosomal dominant retinitis pigmentosa: natural history of novel variant Lys314Gln and a comprehensive literature search.
Sakti DH et al.
Ophthalmic Genetics, 2023
A Description of the Yield of Genetic Reinvestigation in Patients with Inherited Retinal Dystrophies and Previous Inconclusive Genetic Testing.
Areblom M et al.
Genes, 2023
Disease Progression in Patients with Autosomal Dominant Retinitis Pigmentosa due to a Mutation in Inosine Monophosphate Dehydrogenase 1 (IMPDH1).
Bennett LD et al.
Translational Vision Science & Technology, 2020
Variant Profiling of a Large Cohort of 138 Chinese Families With Autosomal Dominant Retinitis Pigmentosa.
Xiao T et al.
Frontiers in Cell and Developmental Biology, 2020
Genome Editing as a Treatment for the Most Prevalent Causative Genes of Autosomal Dominant Retinitis Pigmentosa.
Diakatou M et al.
International Journal of Molecular Sciences, 2019
Application of Whole Exome and Targeted Panel Sequencing in the Clinical Molecular Diagnosis of 319 Chinese Families with Inherited Retinal Dystrophy and Comparison Study.
Wang L et al.
Genes, 2018
Toward the Mutational Landscape of Autosomal Dominant Retinitis Pigmentosa: A Comprehensive Analysis of 258 Spanish Families.
Martin-Merida I et al.
Investigative Ophthalmology & Visual Science, 2018
Applying next generation sequencing with microdroplet PCR to determine the disease-causing mutations in retinal dystrophies.
Wang X et al.
Bmc Ophthalmology, 2017
Mutation screening in genes known to be responsible for Retinitis Pigmentosa in 98 Small Han Chinese Families.
Huang L et al.
Scientific Reports, 2017
Phenotypic variability associated with the D226N allele of IMPDH1.
Ali S et al.
Ophthalmology, 2015
Mutation analysis of pre-mRNA splicing genes in Chinese families with retinitis pigmentosa.
Pan X et al.
Molecular Vision, 2014