Zobrazeno 1 - 10
of 46
pro vyhledávání: '"G. E. Holder"'
Autor:
I. Kleerekooper, L. Del Porto, L. Dell’Arti, J. Guajardo, S. Leo, A. G. Robson, S. A. Trip, A. Petzold, G. T. Plant, G. E. Holder
Publikováno v:
Documenta Ophthalmologica. 145:185-195
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ca7c87616009deb9f4c4fdf18d4a4d6e
https://doi.org/10.1007/s10633-022-09896-6
https://doi.org/10.1007/s10633-022-09896-6
Autor:
I, Kleerekooper, L, Del Porto, L, Dell'Arti, J, Guajardo, S, Leo, A G, Robson, S A, Trip, A, Petzold, G T, Plant, G E, Holder
Publikováno v:
Documenta ophthalmologica. Advances in ophthalmology. 145(3)
Macular involvement in optic neuritis (ON) is well-recognised but poorly understood and may be of clinical relevance. This study explores macular structure-function correlates in acute ON.This cross-sectional cohort study recruited ON patients within
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::81b1226c4ac1f3107902759b964f1d59
https://pubmed.ncbi.nlm.nih.gov/36161379
https://pubmed.ncbi.nlm.nih.gov/36161379
Autor:
Catherine A Egan, G E Holder, Rajarshi Mukherjee, Andrew Stockman, Anthony G. Robson, Andrew R. Webster, Anthony T. Moore
Publikováno v:
Eye. 28:481-487
The purpose of this study is to describe the phenotype of a family with de novo mutation in the GUCY2D. Five subjects, including two monozygotic twins, underwent ophthalmic clinical examination while some had autofluorescence imaging (AF) and optical
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49c313c963b8384063bd23551d1b647a
https://doi.org/10.1038/eye.2014.7
https://doi.org/10.1038/eye.2014.7
Autor:
A, Majander, A G, Robson, C, João, G E, Holder, P F, Chinnery, A T, Moore, M, Votruba, A, Stockman, P, Yu-Wai-Man
Publikováno v:
Mitochondrion
Leber inherited optic neuropathy (LHON) is characterized by subacute bilateral loss of central vision due to dysfunction and loss of retinal ganglion cells (RGCs). Comprehensive visual electrophysiological investigations (including pattern reversal v
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::076b042ed22670bba3870aa0d0659ab5
https://pubmed.ncbi.nlm.nih.gov/28729193
https://pubmed.ncbi.nlm.nih.gov/28729193
Autor:
Edwin M. Stone, Jeaneen L. Andorf, A C Bird, Sharon Jenkins, L L Chen, Andrew R. Webster, E. M. Isaak, G E Holder, Michel Michaelides, Milam A. Brantley
Publikováno v:
British Journal of Ophthalmology. 91:1650-1655
Aim: To determine the frequency and nature of mutations in the gene ABCA4 in a cohort of patients with bull’s-eye maculopathy (BEM). Methods: A panel of 49 subjects (comprising 40 probands/families, 7 sibling pairs and a set of three sibs) with BEM
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb7d52fb6e76111c59d8fbc3a07622f7
https://doi.org/10.1136/bjo.2007.118356
https://doi.org/10.1136/bjo.2007.118356
Autor:
Andrew R. Webster, Sharon Jenkins, G E Holder, A C Bird, S. S. Bhattacharya, M. Tschernutter, Naushin Waseem, Robin R. Ali, Zubin Saihan
Publikováno v:
Digital.CSIC. Repositorio Institucional del CSIC
instname
instname
6 páginas, 8 figuras, 2 tablas.-- Licence Creative Commons, attribution, Non-commercial licence.-- et al.
[Background/aim]: MERTK, a tyrosine kinase receptor protein expressed by the retinal pigment epithelium (RPE), is mutated in both rodent m
[Background/aim]: MERTK, a tyrosine kinase receptor protein expressed by the retinal pigment epithelium (RPE), is mutated in both rodent m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea512af921d9dd18e45d77d60c4b07c6
https://doi.org/10.1136/bjo.2005.084897
https://doi.org/10.1136/bjo.2005.084897
Autor:
I. Mantel, Milam A. Brantley, Anthony T. Moore, C. Bellmann, A. Taylor, G. Anderson, A. G. Robson, G E Holder
Publikováno v:
Klinische Monatsblätter für Augenheilkunde. 221:427-430
The neuronal ceroid lipofuscinoses (Batten disease) are a heterogeneous group of autosomal recessively inherited disorders causing progressive neurological failure, mental deterioration, seizures and visual loss secondary to retinal dystrophy. The ju
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2db63fce1ab47a9a2ea6f7126663af38
https://doi.org/10.1055/s-2004-812819
https://doi.org/10.1055/s-2004-812819
RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infections
Autor:
D E Bamiou, Neil D. Ebenezer, Susan M. Downes, Andrew R. Webster, G E Holder, Alison J. Hardcastle, I Zito, Sharon Jenkins, Shomi S. Bhattacharya, A C Bird, Reshma Patel, Michael E. Cheetham
Publikováno v:
Scopus-Elsevier
Retinitis pigmentosa (RP) is a progressive retinal degeneration that affects about 1 in 4000 of the population.1 Approximately 15–30% of patients with RP have X linked retinitis pigmentosa (XLRP), which is the most severe form of RP consistently ma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73bd82f002f1b736c207ac2421ffad55
https://doi.org/10.1136/jmg.40.8.609
https://doi.org/10.1136/jmg.40.8.609
Publikováno v:
British Journal of Ophthalmology. 87:801-803
Foveal or macular retinoschisis is an uncommon retinal disorder, usually seen in patients affected with generalised retinal disease such as X linked retinoschisis,1 Goldmann-Favre syndrome,2 and enhanced S-cone syndrome.3 There have been a handful of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::411827bda90200ffc6113cecc9390b34
https://doi.org/10.1136/bjo.87.6.801
https://doi.org/10.1136/bjo.87.6.801
Publikováno v:
Acta Ophthalmologica. 89
Purpose To investigate the progression in Stargardt-fundus flavimaculatus (S-FFM) by repeated clinical and electrophysiological examination. Methods A longitudinal study of 59 patients with S-FFM was undertaken. The mean age at the initial examinatio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::750c9168df2301120735547e40540f9f
https://doi.org/10.1111/j.1755-3768.2011.4422.x
https://doi.org/10.1111/j.1755-3768.2011.4422.x