Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Maria Laura Ciccarelli"'
Autor:
Tomas R. Burke, Robert K. Koenekoop, Caroline C W Klaver, Alfonso Baldi, F. P. M. Cremers, Jana Zernant, Alessandro Iannaccone, Radha Ayyagari, Carl Schubert, Allison C. Umfress, R. T. Smith, Rando Allikmets, Maria Laura Ciccarelli, Stephen H. Tsang, Gerald A. Fishman
Publikováno v:
Investigative Ophthalmology and Visual Science, 53, 8, pp. 4458-67
Investigative Ophthalmology and Visual Science, 53, 4458-67
Investigative Ophthalmology & Visual Science, 53(8), 4458-4467. Association for Research in Vision and Ophthalmology Inc.
Investigative Ophthalmology and Visual Science, 53, 4458-67
Investigative Ophthalmology & Visual Science, 53(8), 4458-4467. Association for Research in Vision and Ophthalmology Inc.
PURPOSE. We evaluated the pathogenicity of the G1961E mutation in the ABCA4 gene, and present the range of retinal phenotypes associated with this mutation in homozygosity in a patient cohort with ABCA4-associated phenotypes. METHODS. Patients were e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e82931f8f6a340c8e0918b8a1b60271
https://doi.org/10.1167/iovs.11-9166
https://doi.org/10.1167/iovs.11-9166
Autor:
Susan Lindsay, Sarah Guthrie, Binoy Appukuttan, Long Cheng, Michelle Cheung, Elizabeth R. Young, J. Timothy Stout, Alfonso Baldi, Dominic Davenport, Noriko Miyake, Jim Allen, Moira Crosier, Maria Laura Ciccarelli, Mustafa Sahin, Mara Campioni, Wai-Man Chan, Maria Psatha, Alessandro Iannaccone, Stephen P. Christiansen, Nick J. Gutowski, Caroline Andrews, John K. Chilton, Elizabeth C. Engle, Laura E. Mariani, Sian Ellard, Juan Carlos Zenteno, Krystal Law
Publikováno v:
Science. 321:839-843
Duane's retraction syndrome (DRS) is a complex congenital eye movement disorder caused by aberrant innervation of the extraocular muscles by axons of brainstem motor neurons. Studying families with a variant form of the disorder (DURS2-DRS), we have
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9de67912c8c148d1039b8df8600873c
https://doi.org/10.1126/science.1156121
https://doi.org/10.1126/science.1156121
Autor:
Jacque L. Duncan, Niamh B. Stover, Sharon B. Schwartz, Mohammad Othman, Barbara J. Jennings, K. Thiran Jayasundera, Richard G. Weleber, Alessandro Iannaccone, Karmen M Trzupek, Paul A. Sieving, Samuel G. Jacobson, John R. Heckenlively, Matthew Brumm, Sten Andréasson, Richard A. Lewis, Maria Laura Ciccarelli, Beverly M. Yashar, Kari Branham, Jean Bennett, Dianna K H Wheaton, Gerald A. Fishman, David G. Birch, Pelin Atmaca-Sonmez, Anand Swaroop, Athanasios J. Karoukis
Publikováno v:
Investigative ophthalmology & visual science, vol 53, iss 13
PURPOSE. To determine the proportion of male patients presenting simplex retinal degenerative disease (RD: retinitis pigmentosa [RP] or cone/cone-rod dystrophy [COD/CORD]) with mutations in the X-linked retinal degeneration genes RPGR and RP2. METHOD
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b5ab545ef75fe898736dd04e69c37fe
https://escholarship.org/uc/item/4hv0g66m
https://escholarship.org/uc/item/4hv0g66m
Autor:
Monica M. Jablonski, Beverly M. Yashar, Maria Laura Ciccarelli, Marco Mura, Radha Ayyagari, Alessandro Iannaccone, Frank M. Dyka, Robert S. Molday
Publikováno v:
Università degli studi di Ferrara-IRIS
Vision research, 46(22), 3845-3852. Elsevier Limited
Vision research, 46(22), 3845-3852. Elsevier Limited
A 52-year-old subject harboring an RS1 gene W112C mutation presented with a prominent and asymmetric tapetal-like retinal sheen. Transient ERG responses were smaller and slower in the eye with the more extensive sheen, an association that, to our kno
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5782fed48d38915683a00157dc98745
http://hdl.handle.net/11392/2482001
http://hdl.handle.net/11392/2482001
Autor:
Elizabeth C. Engle, Maria Laura Ciccarelli, Alfonso Baldi, Alessandro Iannaccone, Salvatore Tedesco, P. Alessandro Mutolo, Nathalie McIntosh
Purpose: To report a family in which three siblings have unilateral late-onset Brown syndrome. Methods: The entire nuclear family underwent ophthalmologic evaluation. Orbital imaging and systemic workup were obtained to rule out local or systemic cau
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f0f0764de187ec840ea38a8a25593dc
http://hdl.handle.net/11591/195418
http://hdl.handle.net/11591/195418
Autor:
Caroline Andrews, Alessandro Iannaccone, Mara Campioni, Elizabeth C. Engle, Noriko Miyake, Alfonso Baldi, Natalie C. Kerr, Long Cheng, Maria Laura Ciccarelli
Publikováno v:
Journal of American Association for Pediatric Ophthalmology and Strabismus. 13:e19
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4d988d3395f42d34bd9228ad7fc9e76f
https://doi.org/10.1016/j.jaapos.2008.12.046
https://doi.org/10.1016/j.jaapos.2008.12.046
Autor:
Stephen B. Kritchevsky, Alessandro Iannaccone, Salvatore Tedesco, William J. Kimberling, Grant W. Somes, Claudio Macaluso, Maria Laura Ciccarelli
Publikováno v:
Investigative Opthalmology & Visual Science. 45:784
PURPOSE. To characterize the kinetics of visual field decay in Usher syndrome type II. METHODS. The area of 137 Goldmann visual fields (GVFs) delimited with the I4e and V4e targets was measured in each eye of 19 patients with an established diagnosis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8226ea5006f078a3bab44b1e12dd0bf
https://doi.org/10.1167/iovs.03-0906
https://doi.org/10.1167/iovs.03-0906
Autor:
Janet S. Sunness, Maria Laura Ciccarelli, Steven J. Pittler, Monica M. Jablonski, Robert K. Koenekoop, Alessandro Iannaccone, Hany Ezzeldin, Alfonso Baldi, Andrew J. Lotery, Irene H. Maumenee, Gerald A. Fishman
Publikováno v:
Archives of Ophthalmology. 120:1325
Background: Leber congenital amaurosis (LCA) is an infrequently encountered congenital form of retinitis pigmentosa with marked genetic and clinical heterogeneity. Thus far, 10 genes have been identified in this disorder since 1996. In the future, LC
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02c088f103d17f4ff65eaf71f8d8df4e
https://doi.org/10.1001/archopht.120.10.1325
https://doi.org/10.1001/archopht.120.10.1325