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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: barbazetto i. 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. 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
Cadherin 5 is regulated by corticosteroids and associated with central serous chorioretinopathy.
Schubert C, Pryds A, Zeng S, Xie Y, Freund KB, Spaide RF, Merriam JC, Barbazetto I, Slakter JS, Chang S, Munch IC, Drack AV, Hernandez J, Yzer S, Merriam JE, Linneberg A, Larsen M, Yannuzzi LA, Mullins RF, Allikmets R. Schubert C, et al. Among authors: barbazetto i. Hum Mutat. 2014 Jul;35(7):859-67. doi: 10.1002/humu.22551. Hum Mutat. 2014. PMID: 24665005 Free PMC article.
A novel TIMP3 mutation associated with Sorsby fundus dystrophy.
Barbazetto IA, Hayashi M, Klais CM, Yannuzzi LA, Allikmets R. Barbazetto IA, et al. Arch Ophthalmol. 2005 Apr;123(4):542-3. doi: 10.1001/archopht.123.4.542. Arch Ophthalmol. 2005. PMID: 15824229 No abstract available.
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: barbazetto ia. 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: barbazetto i. JAMA Ophthalmol. 2013 Oct;131(10):1324-30. doi: 10.1001/jamaophthalmol.2013.4349. JAMA Ophthalmol. 2013. PMID: 23989059 Free PMC article.
76 results