Search Results - "Branham, E.H."

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    variant of mitochondrial protein LOC387715/ARMS2, not HTRA1, is strongly associated with age-related macular degeneration by Kanda, Atsuhiro, Chen, Wei, Othman, Mohammad, Branham, Kari E.H, Brooks, Matthew, Khanna, Ritu, He, Shirley, Lyons, Robert, Abecasis, Gonçalo R, Swaroop, Anand

    “…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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    High-Resolution Imaging with Adaptive Optics in Patients with Inherited Retinal Degeneration by Duncan, Jacque L, Zhang, Yuhua, Gandhi, Jarel, Nakanishi, Chiaki, Othman, Mohammad, Branham, Kari E. H, Swaroop, Anand, Roorda, Austin

    “…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 by Swaroop, Anand, Abecasis, Gonçalo R, Li, Mingyao, Atmaca-Sonmez, Pelin, Othman, Mohammad, Branham, Kari E H, Khanna, Ritu, Wade, Michael S, Li, Yun, Liang, Liming, Zareparsi, Sepideh

    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 by Swaroop, Anand, Branham, Kari EH, Chen, Wei, Abecasis, Goncalo

    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 by Zareparsi, Sepideh, Branham, Kari E.H., Li, Mingyao, Shah, Sapna, Klein, Robert J., Ott, Jurg, Hoh, Josephine, Abecasis, Gonçalo R., Swaroop, Anand

    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 by Zareparsi, Sepideh, Reddick, Adam C, Branham, Kari E. H, Moore, Kathryn B, Jessup, Laurie, Thoms, Susan, Smith-Wheelock, Michael, Yashar, Beverly M, Swaroop, Anand

    “…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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    Madeline 2.0 PDE: a new program for local and web-based pedigree drawing by Trager, Edward H., Khanna, Ritu, Marrs, Adrian, Siden, Lawrence, Branham, Kari E.H., Swaroop, Anand, Richards, Julia E.

    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 by Jayasundera, Thiran, Branham, Kari E H, Othman, Mohammad, Rhoades, William R, Karoukis, Athanasios J, Khanna, Hemant, Swaroop, Anand, Heckenlively, John R

    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 by Walia, Saloni, Fishman, Gerald A, Swaroop, Anand, Branham, Kari E H, Lindeman, Martin, Othman, Mohammad, Weleber, Richard G

    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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