Associated Papers
The value of age of onset and family history as predictors of molecular diagnosis in a Swedish cohort of inherited retinal disease.
De Geer K et al.
Acta Ophthalmologica, 2025
39643591 (PubMed )
Supplement: AOS-103-327-s002.xlsx › cohort_data
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
Genetic Analysis of 252 Index Cases with Inherited Retinal Diseases Using a Panel of 351 Retinal Genes.
Abu Elasal M et al.
Genes, 2024
39062705 (PubMed )
Supplement: genes-15-00926-s001.zip › Table_S1-revision.xlsx › Tabble_S1
Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa.
Olivier G et al.
Journal of Medical Genetics, 2021
Mutations in the Genes for Interphotoreceptor Matrix Proteoglycans, IMPG1 and IMPG2, in Patients with Vitelliform Macular Lesions.
Brandl C et al.
Genes, 2017
Mutations in IMPG1 cause vitelliform macular dystrophies.
Manes G et al.
American Journal of Human Genetics, 2013
Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa.
Bandah-Rozenfeld D et al.
American Journal of Human Genetics, 2010
Genome-wide association study of young-onset hypertension in the Han Chinese population of Taiwan.
Yang HC et al.
Plos One, 2009
Molecular genetic analysis of two functional candidate genes in the autosomal recessive retinitis pigmentosa, RP25, locus.
Abd El-Aziz MM et al.
Current Eye Research, 2005
The benign concentric annular macular dystrophy locus maps to 6p12.3-q16.
van Lith-Verhoeven JJ et al.
Investigative Ophthalmology & Visual Science, 2004
A novel dominant CRX mutation causes adult-onset macular dystrophy.
Griffith JF et al.
Ophthalmic Genetics, 0
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