Výsledky vyhledávání

Akademický článek

Ophthalmological Manifestations of Oculocutaneous and Ocular Albinism: Current Perspectives

Autor: Neveu MM, Padhy SK, Ramamurthy S, Takkar B, Jalali S, CP D, Padhi TR, Robson AG

Publikováno v: Clinical Ophthalmology, Vol Volume 16, Pp 1569-1587 (2022)

Magella M Neveu,1,2 Srikanta Kumar Padhy,3 Srishti Ramamurthy,4 Brijesh Takkar,4 Subhadra Jalali,4 Deepika CP,4 Tapas Ranjan Padhi,3 Anthony G Robson1,2 1Department Electrophysiology, Moorfields Eye Hospital, London, EC1V 2PD, UK; 2Institute of Ophth

Externí odkaz: https://doaj.org/article/6f25facf5299413d9411a0899ae917f4

Zobrazit plný text záznamu

Plný text ve formátu HTML

Detailed Clinical Phenotype and Molecular Genetic Findings in CLN3-Associated Isolated Retinal Degeneration

Publikováno v: JAMA ophthalmology, vol 135, iss 7
Ku, CA; Hull, S; Arno, G; Vincent, A; Carss, K; Kayton, R; et al.(2017). Detailed Clinical Phenotype and Molecular Genetic Findings in CLN3-Associated Isolated Retinal Degeneration. JAMA OPHTHALMOLOGY, 135(7), 750-760. doi: 10.1001/jamaophthalmol.2017.1401. UC San Francisco: Retrieved from: http://www.escholarship.org/uc/item/91v7807c

Importance:Mutations in genes traditionally associated with syndromic retinal disease are increasingly found to cause nonsyndromic inherited retinal degenerations. Mutations in CLN3 are classically associated with juvenile neuronal ceroid lipofuscino

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::87632f8b218567096c79bfed32d84f32
https://escholarship.org/uc/item/91v7807c

Zobrazit plný text záznamu

Unilateral BEST1-Associated Retinopathy

Autor: Moore, Anthony, Arora, R, Khan, K, Kasilian, ML, Strauss, RW, Holder, GE, Robson, AG, Thompson, DA, Moore, AT, Michaelides, M

Publikováno v: Moore, Anthony; Arora, R; Khan, K; Kasilian, ML; Strauss, RW; Holder, GE; et al.(2016). Unilateral BEST1-Associated Retinopathy. UC San Francisco: Retrieved from: http://www.escholarship.org/uc/item/6q28k2t0

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______325::ba48110186274ef41942587e2d41e9c5
http://www.escholarship.org/uc/item/6q28k2t0

Zobrazit plný text záznamu

Clinical and molecular characteristics of childhood-onset Stargardt disease

Autor: Moore, Anthony, Fujinami, K, Zernant, J, Chana, RK, Wright, GA, Tsunoda, K, Ozawa, Y, Tsubota, K, Robson, AG, Holder, GE, Allikmets, R

Publikováno v: Moore, Anthony; Fujinami, K; Zernant, J; Chana, RK; Wright, GA; Tsunoda, K; et al.(2015). Clinical and molecular characteristics of childhood-onset Stargardt disease.. UC San Francisco: Retrieved from: http://www.escholarship.org/uc/item/8rf7t7jg

To describe the clinical and molecular characteristics of patients with childhood-onset Stargardt disease (STGD).Retrospective case series.Forty-two patients who were diagnosed with STGD in childhood at a single institution between January 2001 and J

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______325::90140e135e474a7ccb637e5fde0f6f8f
http://www.escholarship.org/uc/item/8rf7t7jg

Zobrazit plný text záznamu

A detailed phenotypic description of autosomal dominant cone dystrophy due to a de novo mutation in the GUCY2D gene

Autor: Mukherjee, R, Robson, AG, Holder, GE, Stockman, A, Egan, CA, Moore, AT, Webster, AR

Publikováno v: Eye (London, England), vol 28, iss 4

PurposeThe purpose of this study is to describe the phenotype of a family with de novo mutation in the GUCY2D.Materials and methodsFive subjects, including two monozygotic twins, underwent ophthalmic clinical examination while some had autofluorescen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______325::750b1fd297e9c13a9dea29919a8f8b28
https://escholarship.org/uc/item/2zg758s8

Zobrazit plný text záznamu

Selective stimulation of colour mechanisms: an empirical perspective

Autor: Declan J. McKeefry, Janus J. Kulikowski, Robson Ag

Publikováno v: Spatial vision. 10(4)

Anatomically distinct parvo and magno visual pathways show considerable functional overlap. However, specific stimulation of the most sensitive colour-opponent parvo-neurones is still possible, provided that colour stimuli are verified for selectivit

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80188bc0192985af95d77c21efbd5677
https://pubmed.ncbi.nlm.nih.gov/9176947

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání