Associated Papers
Whole-Exome Analysis for Polish Caucasian Patients with Retinal Dystrophies and the Creation of a Reference Genomic Database for the Polish Population.
Matczyńska E et al.
Genes, 2024
Comprehensive Analysis of HMCN1 Somatic Mutation in Clear Cell Renal Cell Carcinoma.
Gong Z et al.
Genes, 2022
Rare genetic variants in Tunisian Jewish patients suffering from age-related macular degeneration.
Pras E et al.
Journal of Medical Genetics, 2015
Highly penetrant alleles in age-related macular degeneration.
den Hollander AI et al.
Cold Spring Harbor Perspectives in Medicine, 2014
[Progress in genetic studies of age-related macular degeneration].
Gu H et al.
[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2012
Genetics of age-related macular degeneration: current concepts, future directions.
Deangelis MM et al.
Seminars in Ophthalmology, 2011
Role of long-chain and very-long-chain polyunsaturated fatty acids in macular degenerations and dystrophies.
Liu A et al.
Clinical Lipidology, 2011
Analysis of the Y402H variant of the complement factor H gene in age-related macular degeneration.
Baird PN et al.
Investigative Ophthalmology & Visual Science, 2006
Analysis of variants in the complement factor H, the elongation of very long chain fatty acids-like 4 and the hemicentin 1 genes of age-related macular degeneration in the Finnish population.
Seitsonen S et al.
Molecular Vision, 2006
Toll-like receptor 4 variant D299G is associated with susceptibility to age-related macular degeneration.
Zareparsi S et al.
Human Molecular Genetics, 2005
HEMICENTIN-1 (FIBULIN-6) and the 1q31 AMD locus in the context of complex disease: review and perspective.
Schultz DW et al.
Ophthalmic Genetics, 2005
Pigmented paravenous chorioretinal atrophy is associated with a mutation within the crumbs homolog 1 (CRB1) gene.
McKay GJ et al.
Investigative Ophthalmology & Visual Science, 2005
Analysis of Hemicentin-1, hOgg1, and E-selectin single nucleotide polymorphisms in age-related macular degeneration.
Bojanowski CM et al.
Transactions of the American Ophthalmological Society, 2005
A novel diagnostic test detects a low frequency of the hemicentin Gln5345Arg variant among Northern Irish age related macular degeneration patients.
McKay GJ et al.
Molecular Vision, 2004
Evaluation of the ARMD1 locus on 1q25-31 in patients with age-related maculopathy: genetic variation in laminin genes and in exon 104 of HEMICENTIN-1.
Hayashi M et al.
Ophthalmic Genetics, 2004
Age-related macular degeneration: a high-resolution genome scan for susceptibility loci in a population enriched for late-stage disease.
Abecasis GR et al.
American Journal of Human Genetics, 2004
Fibulins in development and heritable disease.
Chu ML et al.
Birth Defects Research. Part C, Embryo Today : Reviews, 2004
Analysis of the ARMD1 locus: evidence that a mutation in HEMICENTIN-1 is associated with age-related macular degeneration in a large family.
Schultz DW et al.
Human Molecular Genetics, 2003
Review of genetics in age related macular degeneration.
Montezuma SR et al.
Seminars in Ophthalmology, 0