Iannaccone A - Search Results

1

Mutation screening of patients with Leber Congenital Amaurosis or the enhanced S-Cone Syndrome reveals a lack of sequence variations in the NRL gene.

Acar C, Mears AJ, Yashar BM, Maheshwary AS, Andreasson S, Baldi A, Sieving PA, Iannaccone A, Musarella MA, Jacobson SG, Swaroop A. Acar C, et al. Among authors: iannaccone a. Mol Vis. 2003 Jan 24;9:14-7. Mol Vis. 2003. PMID: 12552256 Free article.

2

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.

3

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.

4

An unusual X-linked retinoschisis phenotype and biochemical characterization of the W112C RS1 mutation.

Iannaccone A, Mura M, Dyka FM, Ciccarelli ML, Yashar BM, Ayyagari R, Jablonski MM, Molday RS. Iannaccone A, et al. Vision Res. 2006 Oct;46(22):3845-52. doi: 10.1016/j.visres.2006.06.011. Epub 2006 Aug 1. Vision Res. 2006. PMID: 16884758 Free article.

5

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

6

Predicting the pathogenicity of RPE65 mutations.

Philp AR, Jin M, Li S, Schindler EI, Iannaccone A, Lam BL, Weleber RG, Fishman GA, Jacobson SG, Mullins RF, Travis GH, Stone EM. Philp AR, et al. Among authors: iannaccone a. Hum Mutat. 2009 Aug;30(8):1183-8. doi: 10.1002/humu.21033. Hum Mutat. 2009. PMID: 19431183 Free PMC article.

7

Advancing Clinical Trials for Inherited Retinal Diseases: Recommendations from the Second Monaciano Symposium.

Thompson DA, Iannaccone A, Ali RR, Arshavsky VY, Audo I, Bainbridge JWB, Besirli CG, Birch DG, Branham KE, Cideciyan AV, Daiger SP, Dalkara D, Duncan JL, Fahim AT, Flannery JG, Gattegna R, Heckenlively JR, Heon E, Jayasundera KT, Khan NW, Klassen H, Leroy BP, Molday RS, Musch DC, Pennesi ME, Petersen-Jones SM, Pierce EA, Rao RC, Reh TA, Sahel JA, Sharon D, Sieving PA, Strettoi E, Yang P, Zacks DN; Monaciano Consortium. Thompson DA, et al. Among authors: iannaccone a. Transl Vis Sci Technol. 2020 Jun 3;9(7):2. doi: 10.1167/tvst.9.7.2. eCollection 2020 Jun. Transl Vis Sci Technol. 2020. PMID: 32832209 Free PMC article. Review.

8

Retinal phenotype of an X-linked pseudo-Usher syndrome in association with the G173R mutation in the RPGR gene.

Iannaccone A, Othman MI, Cantrell AD, Jennings BJ, Branham K, Swaroop A. Iannaccone A, et al. Adv Exp Med Biol. 2008;613:221-7. doi: 10.1007/978-0-387-74904-4_25. Adv Exp Med Biol. 2008. PMID: 18188948 No abstract available.

9

Electroretinographic abnormalities in parents of patients with Leber congenital amaurosis who have heterozygous GUCY2D mutations.

Koenekoop RK, Fishman GA, Iannaccone A, Ezzeldin H, Ciccarelli ML, Baldi A, Sunness JS, Lotery AJ, Jablonski MM, Pittler SJ, Maumenee I. Koenekoop RK, et al. Among authors: iannaccone a. Arch Ophthalmol. 2002 Oct;120(10):1325-30. doi: 10.1001/archopht.120.10.1325. Arch Ophthalmol. 2002. PMID: 12365911

10

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.

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