Search Results - "Branham, E.H."
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Toll-like receptor 4 variant D299G is associated with susceptibility to age-related macular degeneration
Published in Human molecular genetics (01-06-2005)“…Age-related macular degeneration (AMD) is a genetically heterogeneous disease that leads to progressive and irreversible vision loss among the elderly…”
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variant of mitochondrial protein LOC387715/ARMS2, not HTRA1, is strongly associated with age-related macular degeneration
Published in Proceedings of the National Academy of Sciences - PNAS (09-10-2007)“…Genetic variants at chromosomes 1q31-32 and 10q26 are strongly associated with susceptibility to age-related macular degeneration (AMD), a common blinding…”
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Age-Related Macular Degeneration: A High-Resolution Genome Scan for Susceptibility Loci in a Population Enriched for Late-Stage Disease
Published in American journal of human genetics (01-03-2004)“…Age-related macular degeneration (AMD) is a complex multifactorial disease that affects the central region of the retina. AMD is clinically heterogeneous,…”
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High-Resolution Imaging with Adaptive Optics in Patients with Inherited Retinal Degeneration
Published in Investigative ophthalmology & visual science (01-07-2007)“…To investigate macular photoreceptor structure in patients with inherited retinal degeneration using high-resolution images and to correlate the findings with…”
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CFH haplotypes without the Y402H coding variant show strong association with susceptibility to age-related macular degeneration
Published in Nature genetics (01-09-2006)“…In developed countries, age-related macular degeneration is a common cause of blindness in the elderly. A common polymorphism, encoding the sequence variation…”
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Genetic susceptibility to age-related macular degeneration: a paradigm for dissecting complex disease traits
Published in Human molecular genetics (15-10-2007)“…Age-related macular degeneration (AMD) is a progressive neurodegenerative disease, which affects quality of life for millions of elderly individuals worldwide…”
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Strong Association of the Y402H Variant in Complement Factor H at 1q32 with Susceptibility to Age-Related Macular Degeneration
Published in American journal of human genetics (01-07-2005)“…Using a large sample of cases and controls from a single center, we show that a T→C substitution in exon 9 (Y402H) of the complement factor H gene is strongly…”
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Association of Apolipoprotein E Alleles with Susceptibility to Age-Related Macular Degeneration in a Large Cohort from a Single Center
Published in Investigative ophthalmology & visual science (01-05-2004)“…To examine the effect of apolipoprotein E (APOE) alleles on age-related macular degeneration (AMD) risk and on age at diagnosis of AMD in a large patient…”
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Age-related macular degeneration: a high-resolution genome scan for susceptibility loci in a population enriched for late stage disease
Published in American journal of ophthalmology (01-09-2004)“…Age-related macular degeneration (AMD) leads to geographic atrophy (GA) and/or choroidal neovascularization (CNV). Considerable data exists in support of a…”
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Madeline 2.0 PDE: a new program for local and web-based pedigree drawing
Published in Bioinformatics (15-07-2007)“…The Madeline 2.0 Pedigree Drawing Engine (PDE) is a pedigree drawing program for use in linkage and family-based association studies. The program is designed…”
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RP2 phenotype and pathogenetic correlations in X-linked retinitis pigmentosa
Published in Archives of ophthalmology (1960) (01-07-2010)“…To assess the phenotype of patients with X-linked retinitis pigmentosa (XLRP) with RP2 mutations and to correlate the findings with their genotype. Six hundred…”
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Discordant phenotypes in fraternal twins having an identical mutation in exon ORF15 of the RPGR gene
Published in Archives of ophthalmology (1960) (01-03-2008)“…To report discordant phenotypes, resulting from the same mutation in exon ORF15 (GenBank AF286472) of the retinitis pigmentosa GTPase regulator gene (RPGR)…”
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