F Giordano, S Simoes… - Proceedings of the …, 2011 - National Acad Sciences Francesca Giordanoa,b,c,1, Sabrina Simoesa,b,c, and Graça Raposoa,b,c,2 aInstitut Curie, Centre de Recherche, Paris F-75248, France; bStructure and Membrane Compartments, Centre National de la Recherche Scientifique, UMR144, Paris F-75248, France; and cCell and Tissue ... All 2 versions
N Healey, KJ Saunders… - … and Vision Science, 2011 - eprints.ulster.ac.uk Purpose: Albinism is an inborn error of melanin metabolism (incidence 1 in 18,000). Oculocutaneous (OCA) and ocular albinism (OA) exhibit similar ocular and visual dysfunction, including high refractive errors and nystagmus. Nystagmus may also occur in isolation with significant effects on ... Cached
A Gargiulo, F Testa, S Rossi, V Di Iorio… - … ophthalmology & visual …, 2011 - ARVO *Each of the following is a corresponding author: Enrico Maria Surace, Telethon Institute of Genetics and Medicine, via Pietro Castellino, 80131 Naples, Italy; surace{at}tigem.it. Francesca Simonelli, Department of Ophthalmology, Seconda Universita' degli Studi di Napoli, ... Related articles - All 4 versions
JL Thomas, TS Vihtelic, AD denDekker… - … ophthalmology & visual …, 2011 - ARVO Results.Phenocopy and rescue experiments determined that a loss of Vps11 results in the platinum phenotype. Expression of vps11 appeared ubiquitous during zebrafish development, with stronger expression in the developing retina and retinal pigmented epithelium (RPE). Zebrafish ... Related articles - All 4 versions
AR Cullinane, T Vilboux, K O'Brien… - Journal of Investigative …, 2011 - nature.com We evaluated a 32-year-old woman whose oculocutaneous albinism (OCA), bleeding diathesis, neutropenia, and history of recurrent infections prompted consideration of the diagnosis of Hermansky–Pudlak syndrome type 2. This was ruled out because of the presence of ... All 3 versions
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