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
Biallelic Variants in TULP1 Are Associated with Heterogeneous Phenotypes of Retinal Dystrophy.
Bodenbender JP et al.
International Journal of Molecular Sciences, 2023
36769033 (PubMed )
Supplement: ijms-24-02709-s001.zip › Supplementary_Table_S1.pdf
Distinct mutations with different inheritance mode caused similar retinal dystrophies in one family: a demonstration of the importance of genetic annotations in complicated pedigrees.
Chen X et al.
Journal of Translational Medicine, 2018
Pathogenic mutations in TULP1 responsible for retinitis pigmentosa identified in consanguineous familial cases.
Ullah I et al.
Molecular Vision, 2016
Homozygosity mapping and targeted sanger sequencing reveal genetic defects underlying inherited retinal disease in families from pakistan.
Maria M et al.
Plos One, 2015
Identification of recurrent and novel mutations in TULP1 in Pakistani families with early-onset retinitis pigmentosa.
Ajmal M et al.
Molecular Vision, 2012
Association of pathogenic mutations in TULP1 with retinitis pigmentosa in consanguineous Pakistani families.
Iqbal M et al.
Archives of Ophthalmology (chicago, Ill. : 1960), 2011
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