Associated Papers
Longitudinal study in autosomal recessive PROM1 inherited retinal disease.
Yates WB et al.
Ophthalmic Genetics, 2025
The pathogenicity of a novel frame-shift variant c.2321delC of PROM1 in an autosomal recessive cone-rod dystrophy pedigree may be associated with augment of autophagy.
Wu C et al.
Experimental Eye Research, 2025
A comprehensive genetic landscape of inherited retinal diseases in a large Pakistani cohort.
Ullah M et al.
Npj Genomic Medicine, 2025
A systematic review of inherited retinal dystrophies in Pakistan: updates from 1999 to April 2023.
Munir A et al.
Bmc Ophthalmology, 2024
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.
Panneman DM et al.
Frontiers in Cell and Developmental Biology, 2023
A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT, the gene associated with Sanfilippo C mucopolysaccharidosis.
Schiff ER et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020
PROM1 and PROM2 expression differentially modulates clinical prognosis of cancer: a multiomics analysis.
Saha SK et al.
Cancer Gene Therapy, 2020
Prevalence of mutations in inherited retinal diseases: A comparison between the United States and India.
Yohe S et al.
Molecular Genetics & Genomic Medicine, 2020
Compound heterozygous novel frameshift variants in the PROM1 gene result in Leber congenital amaurosis.
Ragi SD et al.
Cold Spring Harbor Molecular Case Studies, 2019
Clinical and Molecular Characterization of PROM1-Related Retinal Degeneration.
Cehajic-Kapetanovic J et al.
Jama Network Open, 2019
Identification of novel PROM1 mutations responsible for autosomal recessive maculopathy with rod-cone dystrophy.
Liang J et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2019
Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.
Ellingford JM et al.
Ophthalmology, 2016
An intronic deletion in the PROM1 gene leads to autosomal recessive cone-rod dystrophy.
Eidinger O et al.
Molecular Vision, 2015
Identification and validation of PROM1 and CRTC2 mutations in lung cancer patients.
He Y et al.
Molecular Cancer, 2014
Molecular diagnosis of putative Stargardt disease by capture next generation sequencing.
Zhang X et al.
Plos One, 2014
A paradigm shift in the delivery of services for diagnosis of inherited retinal disease.
O'Sullivan J et al.
Journal of Medical Genetics, 2012
The PROM1 mutation p.R373C causes an autosomal dominant bull's eye maculopathy associated with rod, rod-cone, and macular dystrophy.
Michaelides M et al.
Investigative Ophthalmology & Visual Science, 2010
Autosomal recessive retinitis pigmentosa with early macular affectation caused by premature truncation in PROM1.
Permanyer J et al.
Investigative Ophthalmology & Visual Science, 2010
Loss of the cholesterol-binding protein prominin-1/CD133 causes disk dysmorphogenesis and photoreceptor degeneration.
Zacchigna S et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2009
Severe retinitis pigmentosa mapped to 4p15 and associated with a novel mutation in the PROM1 gene.
Zhang Q et al.
Human Genetics, 2007
Autosomal recessive retinitis pigmentosa in a Pakistani family mapped to CNGA1 with identification of a novel mutation.
Zhang Q et al.
Molecular Vision, 2004