Associated Papers
A comprehensive genetic landscape of inherited retinal diseases in a large Pakistani cohort.
Ullah M et al.
Npj Genomic Medicine, 2025
18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies.
Kiel C et al.
Scientific Reports, 2024
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
An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorder.
Cameli C et al.
Journal of Cellular and Molecular Medicine, 2021
TULP1 and TUB Are Required for Specific Localization of PRCD to Photoreceptor Outer Segments.
Remez L et al.
International Journal of Molecular Sciences, 2020
Exploring the Genetic Landscape of Retinal Diseases in North-Western Pakistan Reveals a High Degree of Autozygosity and a Prevalent Founder Mutation in ABCA4.
Rehman AU et al.
Genes, 2019
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
Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families.
Li L et al.
Investigative Ophthalmology & Visual Science, 2017
The Disease Protein Tulp1 Is Essential for Periactive Zone Endocytosis in Photoreceptor Ribbon Synapses.
Wahl S et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2016
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
Tubby and tubby-like protein 1 are new MerTK ligands for phagocytosis.
Caberoy NB et al.
The Embo Journal, 2010
A novel splice-site mutation of TULP1 underlies severe early-onset retinitis pigmentosa in a consanguineous Israeli Muslim Arab family.
Abbasi AH et al.
Molecular Vision, 2008
Novel TULP1 mutation causing leber congenital amaurosis or early onset retinal degeneration.
Mataftsi A et al.
Investigative Ophthalmology & Visual Science, 2007
A homozygosity-based search for mutations in patients with autosomal recessive retinitis pigmentosa, using microsatellite markers.
Kondo H et al.
Investigative Ophthalmology & Visual Science, 2004
Tubby-like protein-1 mutations in autosomal recessive retinitis pigmentosa.
Gu S et al.
Lancet (london, England), 1998