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Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease.
Branham K, Othman M, Brumm M, Karoukis AJ, Atmaca-Sonmez P, Yashar BM, Schwartz SB, Stover NB, Trzupek K, Wheaton D, Jennings B, Ciccarelli ML, Jayasundera KT, Lewis RA, Birch D, Bennett J, Sieving PA, Andreasson S, Duncan JL, Fishman GA, Iannaccone A, Weleber RG, Jacobson SG, Heckenlively JR, Swaroop A. Branham K, et al. Among authors: iannaccone a. Invest Ophthalmol Vis Sci. 2012 Dec 13;53(13):8232-7. doi: 10.1167/iovs.12-11025. Invest Ophthalmol Vis Sci. 2012. PMID: 23150612 Free PMC article.
A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa.
Breuer DK, Yashar BM, Filippova E, Hiriyanna S, Lyons RH, Mears AJ, Asaye B, Acar C, Vervoort R, Wright AF, Musarella MA, Wheeler P, MacDonald I, Iannaccone A, Birch D, Hoffman DR, Fishman GA, Heckenlively JR, Jacobson SG, Sieving PA, Swaroop A. Breuer DK, et al. Among authors: iannaccone a. Am J Hum Genet. 2002 Jun;70(6):1545-54. doi: 10.1086/340848. Epub 2002 Apr 30. Am J Hum Genet. 2002. PMID: 11992260 Free PMC article.
Elovl4 5-bp-deletion knock-in mice develop progressive photoreceptor degeneration.
Vasireddy V, Jablonski MM, Mandal MN, Raz-Prag D, Wang XF, Nizol L, Iannaccone A, Musch DC, Bush RA, Salem N Jr, Sieving PA, Ayyagari R. Vasireddy V, et al. Among authors: iannaccone a. Invest Ophthalmol Vis Sci. 2006 Oct;47(10):4558-68. doi: 10.1167/iovs.06-0353. Invest Ophthalmol Vis Sci. 2006. PMID: 17003453
Retinal phenotypes in patients homozygous for the G1961E mutation in the ABCA4 gene.
Burke TR, Fishman GA, Zernant J, Schubert C, Tsang SH, Smith RT, Ayyagari R, Koenekoop RK, Umfress A, Ciccarelli ML, Baldi A, Iannaccone A, Cremers FP, Klaver CC, Allikmets R. Burke TR, et al. Among authors: iannaccone a. Invest Ophthalmol Vis Sci. 2012 Jul 3;53(8):4458-67. doi: 10.1167/iovs.11-9166. Invest Ophthalmol Vis Sci. 2012. PMID: 22661473 Free PMC article.
Advancing therapeutic strategies for inherited retinal degeneration: recommendations from the Monaciano Symposium.
Thompson DA, Ali RR, Banin E, Branham KE, Flannery JG, Gamm DM, Hauswirth WW, Heckenlively JR, Iannaccone A, Jayasundera KT, Khan NW, Molday RS, Pennesi ME, Reh TA, Weleber RG, Zacks DN; Monaciano Consortium. Thompson DA, et al. Among authors: iannaccone a. Invest Ophthalmol Vis Sci. 2015 Feb 9;56(2):918-31. doi: 10.1167/iovs.14-16049. Invest Ophthalmol Vis Sci. 2015. PMID: 25667399 Free PMC article. Review.
The RUSH2A Study: Dark-Adapted Visual Fields in Patients With Retinal Degeneration Associated With Biallelic Variants in the USH2A Gene.
Birch DG, Samarakoon L, Melia M, Duncan JL, Ayala AR, Audo I, Cheetham JK, Durham TA, Iannaccone A, Pennesi ME, Stingl K; Foundation Fighting Blindness Consortium Investigator Group. Birch DG, et al. Among authors: iannaccone a. Invest Ophthalmol Vis Sci. 2022 Mar 2;63(3):17. doi: 10.1167/iovs.63.3.17. Invest Ophthalmol Vis Sci. 2022. PMID: 35293952 Free PMC article.
Kinetics of visual field loss in Usher syndrome Type II.
Iannaccone A, Kritchevsky SB, Ciccarelli ML, Tedesco SA, Macaluso C, Kimberling WJ, Somes GW. Iannaccone A, et al. Invest Ophthalmol Vis Sci. 2004 Mar;45(3):784-92. doi: 10.1167/iovs.03-0906. Invest Ophthalmol Vis Sci. 2004. PMID: 14985291
290 results