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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 ...
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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 ...
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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, ...
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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 ...
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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 ...
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