Zobrazeno 1 - 10
of 268
pro vyhledávání: '"severe early childhood onset retinal dystrophy"'
Autor:
Weleber, Richard G., Pennesi, Mark E., Wilson, David J., Kaushal, Shalesh, Erker, Laura R., Jensen, Lauren, McBride, Maureen T., Flotte, Terence R., Humphries, Margaret, Calcedo, Roberto, Hauswirth, William W., Chulay, Jeffrey D., Stout, J. Timothy
Publikováno v:
In Ophthalmology July 2016 123(7):1606-1620
Publikováno v:
BMJ Case Rep
A 10-year-old boy was seen with the complaints of blurring of vision in his left eye (LE) since 3 months. The child had a history of poor vision in both the eyes since early childhood. There was no history of trauma. Birth and family history were ins
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34f39741bca581d19623b4edf2c995cb
https://doi.org/10.1136/bcr-2018-227073
https://doi.org/10.1136/bcr-2018-227073
Autor:
Roberto Calcedo, Laura R Erker, William W. Hauswirth, Jeffrey D. Chulay, Margaret Humphries, Mark E. Pennesi, Lauren Jensen, David J. Wilson, J. Timothy Stout, Terence R. Flotte, Richard G. Weleber, Maureen T. McBride, Shalesh Kaushal
Publikováno v:
Ophthalmology. 123(7)
Purpose To provide an initial assessment of the safety of a recombinant adeno-associated virus vector expressing RPE65 (rAAV2-CB-hRPE65) in adults and children with retinal degeneration caused by RPE65 mutations. Design Nonrandomized, multicenter cli
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::35a83139e2ae8405cdc7d24026085973
https://pubmed.ncbi.nlm.nih.gov/27102010
https://pubmed.ncbi.nlm.nih.gov/27102010
Autor:
Padhy SK; Ophthalmology, Dr Rajendra Prasad center for ophthalmic sciences, New Delhi, Delhi, India., Kumar V; Ophthalmology, Dr Rajendra Prasad center for ophthalmic sciences, New Delhi, Delhi, India., Takkar B; Ophthalmology, All India Institute of Medical Science, Bhopal, Madhya Pradesh, India., Mandal S; Ophthalmology, Dr Rajendra Prasad center for ophthalmic sciences, New Delhi, Delhi, India.
Publikováno v:
BMJ case reports [BMJ Case Rep] 2018 Aug 27; Vol. 2018. Date of Electronic Publication: 2018 Aug 27.
Akademický článek
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Publikováno v:
Investigative ophthalmologyvisual science. 52(1)
PURPOSE. To describe in detail the characteristic clinical phenotype and electrophysiological features of Severe Early Childhood Onset Retinal Dystrophy (SECORD) caused by mutation of RPE65. METHODS. Ophthalmological examination, color fundus photogr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd7faeb205e4f09b38451d3fb4c45041
https://pubmed.ncbi.nlm.nih.gov/20811047
https://pubmed.ncbi.nlm.nih.gov/20811047
Autor:
Michel Michaelides, Anthony G. Robson, Naser Ali, Michalis Georgiou, Tryfon Rotsos, Elizabeth Yang, Parampal S. Grewal, Nikolas Pontikos
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-11 (2021)
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases
Purpose To present the detailed retinal phenotype of patients with Leber Congenital Amaurosis/Early-Onset Severe Retinal Dystrophy (LCA/EOSRD) caused by sequence variants in four genes, either not (n = 1) or very rarely (n = 3) previously associated
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d09d47290ca9399a329da00ff05b6158
https://doaj.org/article/c1a623000c26418c94cae5c7edfa2317
https://doaj.org/article/c1a623000c26418c94cae5c7edfa2317
Autor:
SEVİK, MEHMET ORKUN, ŞAHİN, ÖZLEM
Leber Konjenital Amorozisi (LKA), yaklaşık 150 yıl önce tanımlanan ve erken çocuklukta görme kaybıyla sonuçlanan, kalıtsal retina distrofilerinin en şiddetli olanlarından biridir. Doğumdan beri olan ya da bebeklik çağında başlayan g
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3098::d48684fa7f74621ae2a7942777e4a1d7
https://hdl.handle.net/11424/290395
https://hdl.handle.net/11424/290395
Akademický článek
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