Zobrazeno 1 - 10
of 235
pro vyhledávání: '"Downes SM"'
Publikováno v:
Clinical Ophthalmology, Vol Volume 16, Pp 1513-1523 (2022)
Colm D Andrews,1,2 Aislin A Sheldon,3 Holly Bridge,3 Susan M Downes,2,4 Robert E MacLaren,2,4 Jasleen K Jolly2– 5 1Nuffield Department of Population Health, University of Oxford, Oxford, UK; 2Oxford Eye Hospital, Oxford University Hospitals NHS Fou
Externí odkaz:
https://doaj.org/article/831d83d7125740b29778514109a5e36d
Autor:
Breukink MB, Dingemans AJM, den Hollander AI, Keunen JEE, MacLaren RE, Fauser S, Querques G, Hoyng CB, Downes SM, Boon CJF
Publikováno v:
Clinical Ophthalmology, Vol Volume 11, Pp 39-46 (2016)
Myrte B Breukink,1,* Alexander JM Dingemans,1,* Anneke I den Hollander,1,2 Jan EE Keunen,1 Robert E MacLaren,3,4 Sascha Fauser,5 Giuseppe Querques,6 Carel B Hoyng,1 Susan M Downes,3,4 Camiel JF Boon1,7 1Department of Ophthalmology, 2Department of Hum
Externí odkaz:
https://doaj.org/article/a52fb36a3923447f9ae48fc9a53801ca
Autor:
Taylor, RL, Poulter, JA, Downes, SM, McKibbin, M, Khan, KN, Inglehearn, CF, Webster, AR, Hardcastle, AJ, Michaelides, M, Bishop, PN, Clark, SJ, Black, GC, UKIRDC
Purpose: To characterise the molecular mechanism underpinning early-onset macular drusen (EOMD), a phenotypically severe sub-type of age-related macular degeneration (AMD), in a sub-group of patients. Design: Multi-centre case series, in vitro experi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::b8fce6b5d01e65352c2a059d6b463da9
Autor:
Morjaria, R, Alexander, I, Purbrick, RMJ, Safa, R, Chong, NV, Wulff, K, Foster, RG, Downes, SM
Publikováno v:
Investigative Ophthalmology and Visual Science. 60(6)
Purpose: Diabetic retinopathy (DR) is associated with retinal neuronal and vascular damage. DR has previously been shown to affect the photosensitive retinal ganglion cells (pRGCs). PRGCs are essential for the entrainment of circadian rhythms; thus,
Autor:
Sergouniotis, Panagiotis I., Maxime, Emmanuel, Leroux, Dorothée, Olry, Annie, Thompson, Rachel, Rath, Ana, Robinson, Peter N., Dollfus, Hélèneashworth, Jl, Audo, I, Balciuniene, Vj, Banin, E, Black, Gc, Böhringer, D, Boon, Cjf, Bremond-Gignac, D, Calvas, P, Castela, G, Dagnelie, G, Dollfus, H, Downes, Sm, Fasolo, A, Fasser, C, Gelzinis, A, Goetz, K, Hamann, S, Héon, E, Iarossi, G, Kawasaki, A, Keegan, D, Kessel, L, Khan, K, Klett, A, Köhler, S, Leroux, D, Leroy, Bp, Lisch, W, Liskova, P, Lorenz, B, Maggi, R, Maxime, E, Meunier, I, Mohand-Said, S, Nowomiejska, K, Perdomo, Y, Petzold, A, Preising, M, Robinson, Pn, Scholl, Hpn, Sergouniotis, Pi, Sodi, A, Stingl, K, Studer, F, Suppiej, A, Thompson, R, Touitou, V, Traboulsi, E, Trumpaitis, J, Tuft, Sj, Vaclavik, V, Valeina, S, Van Cauwenbergh, C, Verloes, A, Vighetto, A, Wheeler, R, Wheeler-Schilling, T, Yu-Wai-Man, P, Zobor, D, Zrenner, E.
Publikováno v:
ERN-EYE Ontology Study Group 2019, ' An ontological foundation for ocular phenotypes and rare eye diseases ', Orphanet Journal of Rare Diseases, vol. 14, no. 1, pp. 8 . https://doi.org/10.1186/s13023-018-0980-6
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, 14
Orphanet Journal of Rare Diseases, 2019, 14 (8), pp.1-5. ⟨10.1186/s13023-018-0980-6⟩
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-5 (2019)
Sergouniotis, P I, Maxime, E, Leroux, D, Olry, A, Thompson, R, Rath, A, Robinson, P N, Dollfus, H, ERN-EYE Ontology Study Group, Ashworth, J L, Audo, I, Balciuniene, V J, Hamann, S, Kessel, L, Yu-Wai-Man, P, Zobor, D & Zrenner, E 2019, ' An ontological foundation for ocular phenotypes and rare eye diseases ', Orphanet Journal of Rare Diseases, vol. 14, 8 . https://doi.org/10.1186/s13023-018-0980-6
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, 14
Orphanet Journal of Rare Diseases, 2019, 14 (8), pp.1-5. ⟨10.1186/s13023-018-0980-6⟩
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-5 (2019)
Sergouniotis, P I, Maxime, E, Leroux, D, Olry, A, Thompson, R, Rath, A, Robinson, P N, Dollfus, H, ERN-EYE Ontology Study Group, Ashworth, J L, Audo, I, Balciuniene, V J, Hamann, S, Kessel, L, Yu-Wai-Man, P, Zobor, D & Zrenner, E 2019, ' An ontological foundation for ocular phenotypes and rare eye diseases ', Orphanet Journal of Rare Diseases, vol. 14, 8 . https://doi.org/10.1186/s13023-018-0980-6
Background The optical accessibility of the eye and technological advances in ophthalmic diagnostics have put ophthalmology at the forefront of data-driven medicine. The focus of this study is rare eye disorders, a group of conditions whose clinical
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::840fa6905fa94a0e7ca88a0762068559
https://doi.org/10.1186/s13023-018-0980-6
https://doi.org/10.1186/s13023-018-0980-6
Publikováno v:
Translational Vision Science & Technology
Purpose: Light input, via the eyes, is essential for regulating circadian rhythms. Eye diseases can cause disruption of vital biological rhythms. Of totally blind people, 87% report sleep problems. There are no UK guidelines for visual disturbance–
Autor:
Fiorentino, A, Yu, J, Arno, G, Pontikos, N, Halford, S, Broadgate, S, Michaelides, M, Carss, KJ, Raymond, FL, Cheetham, ME, Webster, AR, Downes, SM, Hardcastle, AJ, NIHR-BioResource Rare Diseases Consortium, UK Inherited Retinal Dystrophy Consortium
Purpose: Mutations in ARL2BP, encoding ADP-ribosylation factor-like 2 binding protein, have recently been implicated as a cause of autosomal recessive retinitis pigmentosa (arRP), with three homozygous variants identified to date. In this study, we p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::b9d566cf575589e7b41412cd5ddef97b
https://ora.ox.ac.uk/objects/uuid:b0b9b9f3-e06b-497f-90f9-91985dabb436
https://ora.ox.ac.uk/objects/uuid:b0b9b9f3-e06b-497f-90f9-91985dabb436
Publikováno v:
Therapeutic Advances in Ophthalmology. 13:251584142110563
The aim of this review article is to describe the specific features of Stargardt disease and ABCA4 retinopathies (ABCA4R) using multimodal imaging and functional testing and to highlight their relevance to potential therapeutic interventions. Standar
Autor:
Gill, JS, Hardy, SA, Blakely, EL, Hopton, S, Nemeth, AH, Fratter, C, Poulton, J, Taylor, RW, Downes, SM
Background/Aim The rare mitochondrial DNA (mtDNA) variant m.8340G>A has been previously reported in the literature in a single, sporadic case of mitochondrial myopathy. In this report, we aim to investigate the case of a 39-year-old male patient with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______1064::a338ea1eb3a82e220f1dcb3529aa93e1
https://ora.ox.ac.uk/objects/uuid:cedb9667-cba8-44b8-9c8e-a634fb4d1131
https://ora.ox.ac.uk/objects/uuid:cedb9667-cba8-44b8-9c8e-a634fb4d1131