Associated Papers
A comprehensive genetic landscape of inherited retinal diseases in a large Pakistani cohort.
Ullah M et al.
Npj Genomic Medicine, 2025
40180963 (PubMed )
Supplement: 41525_2025_488_MOESM2_ESM.xlsx › Sheet1
A systematic review of inherited retinal dystrophies in Pakistan: updates from 1999 to April 2023.
Munir A et al.
Bmc Ophthalmology, 2024
38317096 (PubMed )
Supplement: 12886_2024_3319_MOESM2_ESM.xlsx › Supplementary_Table_S2
Foveal Hypoplasia in CRB1-Related Retinopathies.
Rodriguez-Martinez AC et al.
International Journal of Molecular Sciences, 2023
CRB1-Associated Retinal Dystrophies: Genetics, Clinical Characteristics, and Natural History.
Daich Varela M et al.
American Journal of Ophthalmology, 2023
36099972 (PubMed )
Supplement: mmc4.pdf
Homozygosity mapping and targeted sanger sequencing reveal genetic defects underlying inherited retinal disease in families from pakistan.
Maria M et al.
Plos One, 2015
CRB1 mutations in inherited retinal dystrophies.
Bujakowska K et al.
Human Mutation, 2012
Phenotypic variability in patients with retinal dystrophies due to mutations in CRB1.
Henderson RH et al.
The British Journal of Ophthalmology, 2011
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
CRB1 mutation spectrum in inherited retinal dystrophies.
den Hollander AI et al.
Human Mutation, 2004
CRB1 is essential for external limiting membrane integrity and photoreceptor morphogenesis in the mammalian retina.
Mehalow AK et al.
Human Molecular Genetics, 2003
Mutation screening of Pakistani families with congenital eye disorders.
Khaliq S et al.
Experimental Eye Research, 2003
Leber congenital amaurosis: first genotyped Hungarian patients and report of 2 novel mutations in the CRB1 and CEP290 genes.
Vámos R et al.
European Journal of Ophthalmology, 0
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