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Genome-wide analyses identify common variants associated with macular telangiectasia type 2.
Scerri TS, Quaglieri A, Cai C, Zernant J, Matsunami N, Baird L, Scheppke L, Bonelli R, Yannuzzi LA, Friedlander M; MacTel Project Consortium; Egan CA, Fruttiger M, Leppert M, Allikmets R, Bahlo M. Scerri TS, et al. Among authors: yannuzzi la. Nat Genet. 2017 Apr;49(4):559-567. doi: 10.1038/ng.3799. Epub 2017 Feb 27. Nat Genet. 2017. PMID: 28250457 Free article.
A novel TIMP3 mutation associated with Sorsby fundus dystrophy.
Barbazetto IA, Hayashi M, Klais CM, Yannuzzi LA, Allikmets R. Barbazetto IA, et al. Among authors: yannuzzi la. Arch Ophthalmol. 2005 Apr;123(4):542-3. doi: 10.1001/archopht.123.4.542. Arch Ophthalmol. 2005. PMID: 15824229 No abstract available.
A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration.
Hageman GS, Anderson DH, Johnson LV, Hancox LS, Taiber AJ, Hardisty LI, Hageman JL, Stockman HA, Borchardt JD, Gehrs KM, Smith RJ, Silvestri G, Russell SR, Klaver CC, Barbazetto I, Chang S, Yannuzzi LA, Barile GR, Merriam JC, Smith RT, Olsh AK, Bergeron J, Zernant J, Merriam JE, Gold B, Dean M, Allikmets R. Hageman GS, et al. Among authors: yannuzzi la. Proc Natl Acad Sci U S A. 2005 May 17;102(20):7227-32. doi: 10.1073/pnas.0501536102. Epub 2005 May 3. Proc Natl Acad Sci U S A. 2005. PMID: 15870199 Free PMC article.
ATM gene variants in patients with idiopathic perifoveal telangiectasia.
Barbazetto IA, Room M, Yannuzzi NA, Barile GR, Merriam JE, Bardal AM, Freund KB, Yannuzzi LA, Allikmets R. Barbazetto IA, et al. Among authors: yannuzzi na, yannuzzi la. Invest Ophthalmol Vis Sci. 2008 Sep;49(9):3806-11. doi: 10.1167/iovs.07-1357. Epub 2008 May 23. Invest Ophthalmol Vis Sci. 2008. PMID: 18502988
Phenotypic features of patients with NR2E3 mutations.
Pachydaki SI, Klaver CC, Barbazetto IA, Roy MS, Gouras P, Allikmets R, Yannuzzi LA. Pachydaki SI, et al. Among authors: yannuzzi la. Arch Ophthalmol. 2009 Jan;127(1):71-5. doi: 10.1001/archophthalmol.2008.534. Arch Ophthalmol. 2009. PMID: 19139342
Expanded clinical spectrum of enhanced S-cone syndrome.
Yzer S, Barbazetto I, Allikmets R, van Schooneveld MJ, Bergen A, Tsang SH, Jacobson SG, Yannuzzi LA. Yzer S, et al. Among authors: yannuzzi la. JAMA Ophthalmol. 2013 Oct;131(10):1324-30. doi: 10.1001/jamaophthalmol.2013.4349. JAMA Ophthalmol. 2013. PMID: 23989059 Free PMC article.
463 results