Associated Papers
Dual inheritance patterns: A spectrum of non-syndromic inherited retinal disease phenotypes with varying molecular mechanisms.
Holtes LK et al.
Progress in Retinal and Eye Research, 2025
Pigmented paravenous chorioretinal atrophy: Updated scenario.
Antropoli A et al.
European Journal of Ophthalmology, 2024
Pigmented paravenous retinochoroidal atrophy with acute angle-closure glaucoma and posterior subcapsular cataract: a case report.
Sun Y et al.
Bmc Ophthalmology, 2022
In Silico Analysis of Pathogenic CRB1 Single Nucleotide Variants and Their Amenability to Base Editing as a Potential Lead for Therapeutic Intervention.
Bellingrath JS et al.
Genes, 2021
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
Allele frequency analysis of variants reported to cause autosomal dominant inherited retinal diseases question the involvement of 19% of genes and 10% of reported pathogenic variants.
Hanany M et al.
Journal of Medical Genetics, 2019
PRIMA-1MET-induced neuroblastoma cell death is modulated by p53 and mycn through glutathione level.
Mlakar V et al.
Journal of Experimental & Clinical Cancer Research : Cr, 2019
Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.
Luscan R et al.
American Journal of Human Genetics, 2017
Unilateral pigmented paravenous retinochoroidal atrophy with retinitis pigmentosa in the contralateral eye: A case report.
Aoki S et al.
American Journal of Ophthalmology Case Reports, 2017
Concurrent retinitis pigmentosa and pigmented paravenous retinochoroidal atrophy phenotypes in the same patient.
Ratra D et al.
Indian Journal of Ophthalmology, 2016
Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing.
Watson CM et al.
Plos One, 2014
Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.
Seddon JM et al.
Nature Genetics, 2013
A paradigm shift in the delivery of services for diagnosis of inherited retinal disease.
O'Sullivan J et al.
Journal of Medical Genetics, 2012
CRB1 mutations in inherited retinal dystrophies.
Bujakowska K et al.
Human Mutation, 2012
Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture.
Stone EM
American Journal of Ophthalmology, 2007
The N1317H substitution associated with Leber congenital amaurosis results in impaired interdomain packing in human CRB1 epidermal growth factor-like (EGF) domains.
Davis JA et al.
The Journal of Biological Chemistry, 2007
A familial case of pigmented paravenous retinochoroidal atrophy with asymmetrical fundus manifestations.
Obata R et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2006
Pigmented paravenous chorioretinal atrophy is associated with a mutation within the crumbs homolog 1 (CRB1) gene.
McKay GJ et al.
Investigative Ophthalmology & Visual Science, 2005