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Alessandro Iannaccone
Alessandro Iannaccone
Professor of Ophthalmology, UNC Chapel Hill Kittner Eye Center
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Gene therapy for leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 years
SG Jacobson, AV Cideciyan, R Ratnakaram, E Heon, SB Schwartz, ...
Archives of ophthalmology 130 (1), 9-24, 2012
7682012
Identification of the gene that, when mutated, causes the human obesity syndrome BBS4
K Mykytyn, T Braun, R Carmi, NB Haider, CC Searby, M Shastri, G Beck, ...
Nature genetics 28 (2), 188-191, 2001
3122001
Positional cloning of a novel gene on chromosome 16q causing Bardet–Biedl syndrome (BBS2)
DY Nishimura, CC Searby, R Carmi, K Elbedour, L Van Maldergem, ...
Human Molecular Genetics 10 (8), 865-874, 2001
3032001
A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa
DK Breuer, BM Yashar, E Filippova, S Hiriyanna, RH Lyons, AJ Mears, ...
The American Journal of Human Genetics 70 (6), 1545-1554, 2002
2792002
Pigment epithelium-derived factor supports normal development of photoreceptor neurons and opsin expression after retinal pigment epithelium removal
MM Jablonski, J Tombran-Tink, DA Mrazek, A Iannaccone
Journal of Neuroscience 20 (19), 7149-7157, 2000
2422000
Inherited retinal degenerations: current landscape and knowledge gaps
JL Duncan, EA Pierce, AM Laster, SP Daiger, DG Birch, JD Ash, ...
Translational vision science & technology 7 (4), 6-6, 2018
1812018
Human CHN1 mutations hyperactivate α2-chimaerin and cause Duane's retraction syndrome
N Miyake, J Chilton, M Psatha, L Cheng, C Andrews, WM Chan, K Law, ...
Science 321 (5890), 839-843, 2008
1792008
Macular pigment optical density is related to cognitive function in older people
R Vishwanathan, A Iannaccone, TM Scott, SB Kritchevsky, BJ Jennings, ...
Age and ageing 43 (2), 271-275, 2014
1752014
Progression of geographic atrophy in age-related macular degeneration: AREDS2 report number 16
TD Keenan, E Agrón, A Domalpally, TE Clemons, F van Asten, WT Wong, ...
Ophthalmology 125 (12), 1913-1928, 2018
1652018
Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1)
K Mykytyn, DY Nishimura, CC Searby, G Beck, K Bugge, HL Haines, ...
The American Journal of Human Genetics 72 (2), 429-437, 2003
1642003
Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing
X Wang, H Wang, V Sun, HF Tuan, V Keser, K Wang, H Ren, I Lopez, ...
Journal of medical genetics 50 (10), 674-688, 2013
1582013
Disease expression of RP1 mutations causing autosomal dominant retinitis pigmentosa
SG Jacobson, AV Cideciyan, A Iannaccone, RG Weleber, GA Fishman, ...
Investigative ophthalmology & visual science 41 (7), 1898-1908, 2000
1442000
Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease
K Branham, M Othman, M Brumm, AJ Karoukis, P Atmaca-Sonmez, ...
Investigative ophthalmology & visual science 53 (13), 8232-8237, 2012
1362012
Diagnostic sensitivity and specificity of dark adaptometry for detection of age-related macular degeneration
GR Jackson, IU Scott, IK Kim, DA Quillen, A Iannaccone, JG Edwards
Investigative ophthalmology & visual science 55 (3), 1427-1431, 2014
1322014
Clinical and immunohistochemical evidence for an X linked retinitis pigmentosa syndrome with recurrent infections and hearing loss in association with an RPGR mutation
A Iannaccone, DK Breuer, XF Wang, SF Kuo, EM Normando, E Filippova, ...
Journal of medical genetics 40 (11), e118-e118, 2003
1312003
Advancing therapeutic strategies for inherited retinal degeneration: recommendations from the Monaciano Symposium
DA Thompson, RR Ali, E Banin, KE Branham, JG Flannery, DM Gamm, ...
Investigative ophthalmology & visual science 56 (2), 918-931, 2015
1052015
Pigment epithelium‐derived factor supports normal Müller cell development and glutamine synthetase expression after removal of the retinal pigment epithelium
MM Jablonski, J Tombran‐Tink, DA Mrazek, A Iannaccone
Glia 35 (1), 14-25, 2001
1052001
Retinal phenotypes in patients homozygous for the G1961E mutation in the ABCA4 gene
TR Burke, GA Fishman, J Zernant, C Schubert, SH Tsang, RT Smith, ...
Investigative ophthalmology & visual science 53 (8), 4458-4467, 2012
952012
Correlates of serum lutein+ zeaxanthin: findings from the Third National Health and Nutrition Examination Survey
M Gruber, J Mares, R Chappell, A Millen, T LaRowe, SM Moeller, ...
The Journal of nutrition 134 (9), 2387-2394, 2004
952004
Retinitis pigmentosa associated with rhodopsin mutations: Correlation between phenotypic variability and molecular effects
A Iannaccone, D Man, N Waseem, BJ Jennings, M Ganapathiraju, ...
Vision research 46 (27), 4556-4567, 2006
922006
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Artiklar 1–20