Zobrazeno 1 - 10
of 364
pro vyhledávání: '"Andrew R Webster"'
Autor:
Alfredo Dueñas Rey, Marta del Pozo Valero, Manon Bouckaert, Katherine A Wood, Filip Van den Broeck, Malena Daich Varela, Huw B Thomas, Mattias Van Heetvelde, Marieke De Bruyne, Stijn Van de Sompele, Miriam Bauwens, Hanne Lenaerts, Quinten Mahieu, Dragana Josifova, Genomics England Research Consortium, Carlo Rivolta, Raymond T O’Keefe, Jamie Ellingford, Andrew R Webster, Gavin Arno, Carmen Ayuso, Julie De Zaeytijd, Bart P Leroy, Elfride De Baere, Frauke Coppieters
Publikováno v:
Genome Medicine, Vol 16, Iss 1, Pp 1-21 (2024)
Abstract Background 5’ untranslated regions (5’UTRs) are essential modulators of protein translation. Predicting the impact of 5’UTR variants is challenging and rarely performed in routine diagnostics. Here, we present a combined approach of a
Externí odkaz:
https://doaj.org/article/3ef1b0b6663c4cf89d5498ab57ec00ff
Autor:
Sagnik Sen, Michel Michaelides, Andrew R Webster, Konstantinos Balaskas, Kaoru Fujinami, Manuel Gomes, Nikolas Pontikos, Susan M Downes, Malena Daich Varela, Omar A Mahroo, Thales Antonio Cabral de Guimaraes, Stephen Archer, Gavin Arno, Mital Shah, Savita Madhusudhan, Quang Nguyen, William Woof, Nathaniel Kabiri, Dayyanah Sumodhee, Ismail Moghul, Saoud Al-Khuzaei, Yichen Liu, Catherine Hollyhead, Bhavna Tailor, Loy Lobo, Carl Veal, Jennifer Furman
Publikováno v:
BMJ Open, Vol 13, Iss 3 (2023)
Introduction Inherited retinal diseases (IRD) are a leading cause of visual impairment and blindness in the working age population. Mutations in over 300 genes have been found to be associated with IRDs and identifying the affected gene in patients b
Externí odkaz:
https://doaj.org/article/5945d6aef20f41bfa056c55a51aabb6a
Autor:
Hannah Currant, Tomas W Fitzgerald, Praveen J Patel, Anthony P Khawaja, UK Biobank Eye and Vision Consortium, Andrew R Webster, Omar A Mahroo, Ewan Birney
Publikováno v:
PLoS Genetics, Vol 19, Iss 2, p e1010587 (2023)
Photoreceptor cells (PRCs) are the light-detecting cells of the retina. Such cells can be non-invasively imaged using optical coherence tomography (OCT) which is used in clinical settings to diagnose and monitor ocular diseases. Here we present the l
Externí odkaz:
https://doaj.org/article/cea33a204fb344ad9780126c38edef8b
Autor:
Rose M Gilbert, Dayyanah Sumodhee, Nikolas Pontikos, Catherine Hollyhead, Angus Patrick, Samuel Scarles, Sabrina Van Der Smissen, Rodrigo M Young, Nick Nettleton, Andrew R Webster, Jocelyn Cammack
Publikováno v:
JMIR Formative Research, Vol 6, Iss 1, p e21341 (2022)
BackgroundInherited retinal diseases (IRDs) are a leading cause of blindness in children and working age adults in the United Kingdom and other countries, with an appreciable socioeconomic impact. However, by definition, IRD data are individually rar
Externí odkaz:
https://doaj.org/article/ecf3ec362eb24caaa67489e7bbb25e81
Publikováno v:
BMJ Open Ophthalmology, Vol 5, Iss 1 (2020)
Objective Retinitis pigmentosa-related retinal detachment (RPRD) is rare, and the full spectrum of retinal complications is not well defined. To describe the types of retinal detachment in patients with retinitis pigmentosa and the surgical outcomes
Externí odkaz:
https://doaj.org/article/52d4a5971cee4b66a96ba717c55c5da0
Autor:
Adam M Dubis, Wei S Lim, Jasleen K Jolly, Maria Toms, Robert E MacLaren, Andrew R Webster, Mariya Moosajee
Publikováno v:
Journal of Clinical Medicine, Vol 10, Iss 2, p 232 (2021)
Background: Characterisation of preserved autofluorescence (PAF) area in choroideremia (CHM) and its validity for monitoring disease progression in clinical trials is of importance. Methods: Eighty patients with molecularly confirmed CHM were recruit
Externí odkaz:
https://doaj.org/article/0d1098164be44558a3dc8c21b525db09
Autor:
Stanley Lambertus, Nathalie M Bax, Ana Fakin, Joannes M M Groenewoud, B Jeroen Klevering, Anthony T Moore, Michel Michaelides, Andrew R Webster, Gert Jan van der Wilt, Carel B Hoyng
Publikováno v:
PLoS ONE, Vol 12, Iss 3, p e0174020 (2017)
BACKGROUND:Each inherited retinal disorder is rare, but together, they affect millions of people worldwide. No treatment is currently available for these blinding diseases, but promising new options-including gene therapy-are emerging. Arguably, the
Externí odkaz:
https://doaj.org/article/dad376ea3c914a80810bffc3ef0ac508
Autor:
Mei Hong Tan, Donna S Mackay, Jill Cowing, Hoai Viet Tran, Alexander J Smith, Genevieve A Wright, Arundhati Dev-Borman, Robert H Henderson, Phillip Moradi, Isabelle Russell-Eggitt, Robert E MacLaren, Anthony G Robson, Michael E Cheetham, Dorothy A Thompson, Andrew R Webster, Michel Michaelides, Robin R Ali, Anthony T Moore
Publikováno v:
PLoS ONE, Vol 7, Iss 3, p e32330 (2012)
Leber Congenital Amaurosis (LCA) and Early Childhood Onset Severe Retinal Dystrophy are clinically and genetically heterogeneous retinal disorders characterised by visual impairment and nystagmus from birth or early infancy. We investigated the preva
Externí odkaz:
https://doaj.org/article/ab358eecd7e74aa495b458512900acef
Autor:
Michalis Georgiou, Anthony G. Robson, Katarina Jovanovic, Thales A. C. de Guimarães, Naser Ali, Nikolas Pontikos, Sami H. Uwaydat, Omar A. Mahroo, Michael E. Cheetham, Andrew R. Webster, Alison J. Hardcastle, Michel Michaelides
Publikováno v:
Ophthalmology. 130:413-422
Publikováno v:
Ophthalmic Genetics. :1-6