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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: ciccarelli ml. 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.
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. Among authors: ciccarelli ml. Invest Ophthalmol Vis Sci. 2004 Mar;45(3):784-92. doi: 10.1167/iovs.03-0906. Invest Ophthalmol Vis Sci. 2004. PMID: 14985291
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: ciccarelli ml. 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.
Familial unilateral Brown syndrome.
Iannaccone A, McIntosh N, Ciccarelli ML, Baldi A, Mutolo PA, Tedesco SA, Engle EC. Iannaccone A, et al. Among authors: ciccarelli ml. Ophthalmic Genet. 2002 Sep;23(3):175-84. doi: 10.1076/opge.23.3.175.7882. Ophthalmic Genet. 2002. PMID: 12324876
Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome.
Miyake N, Chilton J, Psatha M, Cheng L, Andrews C, Chan WM, Law K, Crosier M, Lindsay S, Cheung M, Allen J, Gutowski NJ, Ellard S, Young E, Iannaccone A, Appukuttan B, Stout JT, Christiansen S, Ciccarelli ML, Baldi A, Campioni M, Zenteno JC, Davenport D, Mariani LE, Sahin M, Guthrie S, Engle EC. Miyake N, et al. Among authors: ciccarelli ml. Science. 2008 Aug 8;321(5890):839-43. doi: 10.1126/science.1156121. Epub 2008 Jul 24. Science. 2008. PMID: 18653847 Free PMC article.
Impaired bone remodeling in children with osteogenesis imperfecta treated and untreated with bisphosphonates: the role of DKK1, RANKL, and TNF-α.
Brunetti G, Papadia F, Tummolo A, Fischetto R, Nicastro F, Piacente L, Ventura A, Mori G, Oranger A, Gigante I, Colucci S, Ciccarelli M, Grano M, Cavallo L, Delvecchio M, Faienza MF. Brunetti G, et al. Osteoporos Int. 2016 Jul;27(7):2355-2365. doi: 10.1007/s00198-016-3501-2. Epub 2016 Feb 8. Osteoporos Int. 2016. PMID: 26856585
Osteoclastogenesis in children with 21-hydroxylase deficiency on long-term glucocorticoid therapy: the role of receptor activator of nuclear factor-kappaB ligand/osteoprotegerin imbalance.
Faienza MF, Brunetti G, Colucci S, Piacente L, Ciccarelli M, Giordani L, Del Vecchio GC, D'Amore M, Albanese L, Cavallo L, Grano M. Faienza MF, et al. J Clin Endocrinol Metab. 2009 Jul;94(7):2269-76. doi: 10.1210/jc.2008-2446. Epub 2009 Apr 28. J Clin Endocrinol Metab. 2009. PMID: 19401376
13 results