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Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.
Seddon JM, Yu Y, Miller EC, Reynolds R, Tan PL, Gowrisankar S, Goldstein JI, Triebwasser M, Anderson HE, Zerbib J, Kavanagh D, Souied E, Katsanis N, Daly MJ, Atkinson JP, Raychaudhuri S. Seddon JM, et al. Among authors: kavanagh d. Nat Genet. 2013 Nov;45(11):1366-70. doi: 10.1038/ng.2741. Epub 2013 Sep 15. Nat Genet. 2013. PMID: 24036952 Free PMC article.
Extended haplotypes in the complement factor H (CFH) and CFH-related (CFHR) family of genes protect against age-related macular degeneration: characterization, ethnic distribution and evolutionary implications.
Hageman GS, Hancox LS, Taiber AJ, Gehrs KM, Anderson DH, Johnson LV, Radeke MJ, Kavanagh D, Richards A, Atkinson J, Meri S, Bergeron J, Zernant J, Merriam J, Gold B, Allikmets R, Dean M; AMD Clinical Study Group. Hageman GS, et al. Among authors: kavanagh d. Ann Med. 2006;38(8):592-604. Ann Med. 2006. PMID: 17438673 Free PMC article.
C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy.
Richards A, van den Maagdenberg AM, Jen JC, Kavanagh D, Bertram P, Spitzer D, Liszewski MK, Barilla-Labarca ML, Terwindt GM, Kasai Y, McLellan M, Grand MG, Vanmolkot KR, de Vries B, Wan J, Kane MJ, Mamsa H, Schäfer R, Stam AH, Haan J, de Jong PT, Storimans CW, van Schooneveld MJ, Oosterhuis JA, Gschwendter A, Dichgans M, Kotschet KE, Hodgkinson S, Hardy TA, Delatycki MB, Hajj-Ali RA, Kothari PH, Nelson SF, Frants RR, Baloh RW, Ferrari MD, Atkinson JP. Richards A, et al. Among authors: kavanagh d. Nat Genet. 2007 Sep;39(9):1068-70. doi: 10.1038/ng2082. Epub 2007 Jul 29. Nat Genet. 2007. PMID: 17660820
Advances in understanding of pathogenesis of aHUS and HELLP.
Fang CJ, Richards A, Liszewski MK, Kavanagh D, Atkinson JP. Fang CJ, et al. Among authors: kavanagh d. Br J Haematol. 2008 Nov;143(3):336-48. doi: 10.1111/j.1365-2141.2008.07324.x. Epub 2008 Aug 4. Br J Haematol. 2008. PMID: 18691170 Free article. Review.
Complement factor h autoantibodies and age-related macular degeneration.
Dhillon B, Wright AF, Tufail A, Pappworth I, Hayward C, Moore I, Strain L, Kavanagh D, Barlow PN, Herbert AP, Schmidt CQ, Armbrecht AM, Laude A, Deary IJ, Staniforth SJ, Holmes LV, Goodship TH, Marchbank KJ. Dhillon B, et al. Among authors: kavanagh d. Invest Ophthalmol Vis Sci. 2010 Nov;51(11):5858-63. doi: 10.1167/iovs.09-5124. Epub 2010 Jun 30. Invest Ophthalmol Vis Sci. 2010. PMID: 20592223
662 results