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A 32 kb critical region excluding Y402H in CFH mediates risk for age-related macular degeneration.
Sivakumaran TA, Igo RP Jr, Kidd JM, Itsara A, Kopplin LJ, Chen W, Hagstrom SA, Peachey NS, Francis PJ, Klein ML, Chew EY, Ramprasad VL, Tay WT, Mitchell P, Seielstad M, Stambolian DE, Edwards AO, Lee KE, Leontiev DV, Jun G, Wang Y, Tian L, Qiu F, Henning AK, LaFramboise T, Sen P, Aarthi M, George R, Raman R, Das MK, Vijaya L, Kumaramanickavel G, Wong TY, Swaroop A, Abecasis GR, Klein R, Klein BE, Nickerson DA, Eichler EE, Iyengar SK. Sivakumaran TA, et al. Among authors: francis pj. PLoS One. 2011;6(10):e25598. doi: 10.1371/journal.pone.0025598. Epub 2011 Oct 12. PLoS One. 2011. PMID: 22022419 Free PMC article.
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, Klein ML, Humpert AJ, Luzier CW, Persun V, Schain M, Mahan A, Runckel C, Cassera M, Vittal V, Doyle TM, Martin TM, Weleber RG, Francis PJ, Acott TS. Schultz DW, et al. Among authors: francis pj. Hum Mol Genet. 2003 Dec 15;12(24):3315-23. doi: 10.1093/hmg/ddg348. Epub 2003 Oct 21. Hum Mol Genet. 2003. PMID: 14570714
Genetics of age-related macular degeneration.
Klein ML, Francis PJ. Klein ML, et al. Among authors: francis pj. Ophthalmol Clin North Am. 2003 Dec;16(4):567-74. doi: 10.1016/s0896-1549(03)00063-4. Ophthalmol Clin North Am. 2003. PMID: 14740997 Review.
Mitochondrial DNA variants of respiratory complex I that uniquely characterize haplogroup T2 are associated with increased risk of age-related macular degeneration.
SanGiovanni JP, Arking DE, Iyengar SK, Elashoff M, Clemons TE, Reed GF, Henning AK, Sivakumaran TA, Xu X, DeWan A, Agrón E, Rochtchina E, Sue CM, Wang JJ, Mitchell P, Hoh J, Francis PJ, Klein ML, Chew EY, Chakravarti A. SanGiovanni JP, et al. Among authors: francis pj. PLoS One. 2009;4(5):e5508. doi: 10.1371/journal.pone.0005508. Epub 2009 May 12. PLoS One. 2009. PMID: 19434233 Free PMC article.
133 results