Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Webster, Andrew R."'
Autor:
Sarkar, Hajrah, Mitsios, Andreas, Smart, Matthew, Skinner, Jane, Welch, Ailsa A, Kalatzis, Vasiliki, Coffey, Peter J, Dubis, Adam M, Webster, Andrew R, Moosajee, Mariya
Publikováno v:
Human Molecular Genetics
Choroideremia (CHM) is an x-linked recessive chorioretinal dystrophy, with 30% caused by nonsense mutations in the CHM gene resulting in an in-frame premature termination codon (PTC). Nonsense-mediated mRNA decay (NMD) is the cell’s natural surveil
Autor:
Liu J; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA., He Y; Fermentation Facility, Biochemistry and Biophysics Center, National Heart, Lung and Blood Institute, Bethesda, MD 20892, USA., Lwin C; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA., Han M; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA., Guan B; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA., Naik A; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA., Bender C; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA., Moore N; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA., Huryn LA; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA., Sergeev YV; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA., Qian H; Visual Function Core, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA., Zeng Y; Visual Function Core, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA., Dong L; Genetic Engineering Core, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA., Liu P; Genetic Engineering Core, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA., Lei J; Genetic Engineering Core, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA., Haugen CJ; Genetic Engineering Core, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA., Prasov L; Department of Ophthalmology and Visual Sciences, Kellogg Eye Center, University of Michigan, Ann Arbor, MI 48105, USA.; Department of Human Genetics, University of Michigan, Ann Arbor, MI 48105, USA., Shi R; Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, 100730 Beijing, China., Dollfus H; Centre de référence pour les Affections Rares Ophtalmologiques CARGO, Hôpitaux Universitaires de Strasbourg, Université de Strasbourg, UMRS_1112, Strasbourg 67091, France., Aristodemou P; Cyprus Institute of Neurology and Genetics, Nicosia 1683, Cyprus.; VRMCy Centre, Limassol 3025, Cyprus., Laich Y; UCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK.; Department of Genetics, Moorfields Eye Hospital NHS Trust, London EC1V 2PD, UK., Németh AH; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, ACE Building, Nuffield Orthopaedic Centre, Oxford OX3 7HE, UK.; Nuffield Department of Clinical Neurosciences, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DU, UK., Taylor J; Oxford Regional Genetics Laboratory, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 9DU, UK., Downes S; Nuffield Department of Ophthalmology, Nuffield Department of Clinical Neuroscience, University of Oxford, Oxford OX3 9DU, UK.; Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 9DU, UK., Krawczynski MR; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan 60-512, Poland., Meunier I; National Referent Centre for Rare Sensory Diseases, Montpellier University Hospital, Montpellier University, Montpellier 34295, France., Strassberg M; Invitae Corporation, San Francisco, CA 94103, USA., Tenney J; Division of Medical Genetics, Department of Pediatrics, UCSF School of Medicine, San Francisco, CA 94143, USA., Gao J; Division of Medical Genetics, Department of Pediatrics, UCSF School of Medicine, San Francisco, CA 94143, USA., Shear MA; Division of Medical Genetics, Department of Pediatrics, UCSF School of Medicine, San Francisco, CA 94143, USA., Moore AT; UCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK.; Department of Ophthalmology, UCSF School of Medicine, San Francisco, CA 94143, USA., Duncan JL; Department of Ophthalmology, UCSF School of Medicine, San Francisco, CA 94143, USA., Menendez B; Department of Pediatrics, University of Illinois School of Medicine, Chicago, IL 60612, USA., Hull S; Department of Ophthalmology, University of Auckland, Auckland 1023, New Zealand., Vincent AL; Department of Ophthalmology, University of Auckland, Auckland 1023, New Zealand., Siskind CE; Neurology and Neurological Sciences, Stanford School of Medicine, Stanford, CA 94305, USA., Traboulsi EI; The Center for Genetic Eye Diseases, The Cleveland Clinic Eye Institute, Cleveland, OH 44106, USA., Blackstone C; Movement Disorders Division, Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA., Sisk RA; Department of Ophthalmology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA., Miraldi Utz V; Department of Ophthalmology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.; Abrahamson Pediatric Eye Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA., Webster AR; UCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK.; Department of Genetics, Moorfields Eye Hospital NHS Trust, London EC1V 2PD, UK., Michaelides M; UCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK.; Department of Genetics, Moorfields Eye Hospital NHS Trust, London EC1V 2PD, UK., Arno G; UCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK.; Department of Genetics, Moorfields Eye Hospital NHS Trust, London EC1V 2PD, UK., Synofzik M; Division Translational Genomics of Neurodegenerative Diseases Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen 72076, Germany.; German Center of Neurodegenerative Diseases (DZNE), Tübingen 72076, Germany., Hufnagel RB; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA.; Department of Genetics and Center for Integrated Healthcare Research, Kaiser Permanente Hawaii Region, Honolulu, HI 98619, USA.
Publikováno v:
Brain : a journal of neurology [Brain] 2024 Jun 03; Vol. 147 (6), pp. 2085-2097.
Autor:
Jurkute N; Moorfields Eye Hospital NHS Foundation Trust, London, UK.; Institute of Ophthalmology, University College London, London, UK., Bertacchi M; Université Côte d'Azur, CNRS, Inserm, iBV, Nice, France., Arno G; Moorfields Eye Hospital NHS Foundation Trust, London, UK.; Institute of Ophthalmology, University College London, London, UK., Tocco C; Université Côte d'Azur, CNRS, Inserm, iBV, Nice, France., Kim US; Moorfields Eye Hospital NHS Foundation Trust, London, UK.; Kim's Eye Hospital, Seoul, South Korea., Kruszewski AM; Department of Neurology, Hospital of the University of Pennsylvania, Perelman School of Medicine, Philadelphia, PA, USA., Avery RA; Division of Ophthalmology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Neurology, Perelman School of Medicine, Philadelphia, PA, USA.; Department of Ophthalmology, Perelman School of Medicine, Philadelphia, PA, USA., Bedoukian EC; Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Han J; Institute of Vision Research, Department of Ophthalmology, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, South Korea., Ahn SJ; Department of Radiology, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, South Korea., Pontikos N; Moorfields Eye Hospital NHS Foundation Trust, London, UK.; Institute of Ophthalmology, University College London, London, UK., Acheson J; Moorfields Eye Hospital NHS Foundation Trust, London, UK.; National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Trust, London, UK., Davagnanam I; Moorfields Eye Hospital NHS Foundation Trust, London, UK.; Department of Brain Repair & Rehabilitation, UCL Queen Square Institute of Neurology, London, UK., Bowman R; Department of Ophthalmology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Kaliakatsos M; Paediatric Neurology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Gardham A; North West Thames Regional Genetics Service, Northwick Park Hospital, Harrow, UK., Wakeling E; North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Oluonye N; Moorfields Eye Hospital NHS Foundation Trust, London, UK.; Wolfson Neurodisability Service, Great Ormond Street Hospital NHS Foundation Trust, London, UK., Reddy MA; Moorfields Eye Hospital NHS Foundation Trust, London, UK.; Royal London Hospital, Barts Health NHS Trust, London, UK., Clark E; Department of Neuroscience, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Rosser E; Department of Clinical Genetics, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Amati-Bonneau P; MitoLab Team, UMR CNRS 6015 - INSERM U1083, Institut MitoVasc, Angers University and Hospital, Angers, France.; Department of Biochemistry and Genetics, University Hospital Angers, Angers, France.; Genetics and Immuno-cell Therapy Team, Mohammed First University, Oujda, Morocco., Charif M; MitoLab Team, UMR CNRS 6015 - INSERM U1083, Institut MitoVasc, Angers University and Hospital, Angers, France.; National Center for Rare Diseases, Inherited Sensory Disorders, Gui de Chauliac Hospital, Montpellier, France., Lenaers G; MitoLab Team, UMR CNRS 6015 - INSERM U1083, Institut MitoVasc, Angers University and Hospital, Angers, France., Meunier I; Institut des Neurosciences de Montpellier, INSERM INSERM U1051, Université de Montpellier, Montpellier, France., Defoort S; Service d'exploration de la vision et neuro-ophtalmologie, CHRU de Lille, Lille, France., Vincent-Delorme C; Service de Génétique médicale, Hôpital Jeanne de Flandre, CHRU de Lille, Lille, France., Robson AG; Moorfields Eye Hospital NHS Foundation Trust, London, UK.; Institute of Ophthalmology, University College London, London, UK., Holder GE; Institute of Ophthalmology, University College London, London, UK.; Yong Loo Lin School of Medicine, Department of Ophthalmology, National University of Singapore, Singapore, Singapore., Jeanjean L; Department of Ophthalmology, University Hospital of Nimes, Nimes, France., Martinez-Monseny A; Genetic and Molecular Medicine Department, Hospital Sant Joan de Déu, Barcelona, Spain., Vidal-Santacana M; Department of Ophthalmology, Hospital Sant Joan de Déu, Barcelona, Spain., Dominici C; University Côte d'Azur, CNRS UMR7284, INSERM U1081, Institute for Research on Cancer and Aging, Nice, France., Gaggioli C; University Côte d'Azur, CNRS UMR7284, INSERM U1081, Institute for Research on Cancer and Aging, Nice, France., Giordano N; Neuroscience Institute-CNR, Pisa, Italy., Caleo M; Neuroscience Institute-CNR, Pisa, Italy., Liu GT; Division of Ophthalmology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Neurology, Perelman School of Medicine, Philadelphia, PA, USA.; Department of Ophthalmology, Perelman School of Medicine, Philadelphia, PA, USA., Webster AR; Moorfields Eye Hospital NHS Foundation Trust, London, UK.; Institute of Ophthalmology, University College London, London, UK., Studer M; Université Côte d'Azur, CNRS, Inserm, iBV, Nice, France., Yu-Wai-Man P; Moorfields Eye Hospital NHS Foundation Trust, London, UK.; Institute of Ophthalmology, University College London, London, UK.; Cambridge Eye Unit, Addenbrooke's Hospital, Cambridge University Hospitals, Cambridge, UK.; John van Geest Centre for Brain Repair and MRC Mitochondrial Biology Unit, Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.
Publikováno v:
Brain communications [Brain Commun] 2021 Jul 20; Vol. 3 (3), pp. fcab162. Date of Electronic Publication: 2021 Jul 20 (Print Publication: 2021).
Autor:
Pontikos N; UCL Genetics Institute, University College London, London WC1E 6BT, UK.; Institute of Ophthalmology, University College London, London EC1V 9EL, UK.; Moorfields Eye Hospital, London EC1V 2PD, UK., Yu J; Nuffield Department of Clinical Neurosciences, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DU, UK., Moghul I; UCL Cancer Institute, University College London, London WC1E 6DD, UK., Withington L; RP Fighting Blindness, PO Box 350, Buckingham, MK18 1GZ, UK., Blanco-Kelly F; Institute of Ophthalmology, University College London, London EC1V 9EL, UK.; Moorfields Eye Hospital, London EC1V 2PD, UK., Vulliamy T; Barts and The London School of Medicine and Dentistry, Blizard Institute, Queen Mary University of London, London E1 2AT, UK., Wong TLE; Barts and The London School of Medicine and Dentistry, Blizard Institute, Queen Mary University of London, London E1 2AT, UK., Murphy C; UCL Genetics Institute, University College London, London WC1E 6BT, UK.; Warwick Medical School, The University of Warwick, Coventry CV4 7AL, UK., Cipriani V; UCL Genetics Institute, University College London, London WC1E 6BT, UK.; Institute of Ophthalmology, University College London, London EC1V 9EL, UK.; Moorfields Eye Hospital, London EC1V 2PD, UK., Fiorentino A; Institute of Ophthalmology, University College London, London EC1V 9EL, UK., Arno G; Institute of Ophthalmology, University College London, London EC1V 9EL, UK.; Moorfields Eye Hospital, London EC1V 2PD, UK., Greene D; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge CB2 0PT, UK.; Medical Research Council Biostatistics Unit, Cambridge Biomedical Campus, Cambridge CB2 0SR, UK., Jacobsen JOB; Barts and The London School of Medicine and Dentistry, William Harvey Research Institute, Queen Mary University of London, John Vane Building, Charterhouse Square, London EC1M 6BQ, UK., Clark T; Computer Science Department, University College London, London WC1E 6BT, UK., Gregory DS; Computer Science Department, University College London, London WC1E 6BT, UK., Nemeth AM; Nuffield Department of Clinical Neurosciences, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DU, UK., Halford S; Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DU, UK., Inglehearn CF; Leeds Institute of Biomedical and Clinical Sciences, University of Leeds, St James's University Hospital, Leeds LS9 7TF, UK., Downes S; Oxford Eye Hospital, John Radcliffe Hospital, Oxford OX3 9DU, UK., Black GC; Manchester Royal Eye Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester M13 9WL, UK., Webster AR; Institute of Ophthalmology, University College London, London EC1V 9EL, UK.; Moorfields Eye Hospital, London EC1V 2PD, UK., Hardcastle AJ; Institute of Ophthalmology, University College London, London EC1V 9EL, UK., Plagnol V; UCL Genetics Institute, University College London, London WC1E 6BT, UK.
Publikováno v:
Bioinformatics (Oxford, England) [Bioinformatics] 2017 Aug 01; Vol. 33 (15), pp. 2421-2423.
Autor:
Sofat R; Centre for Clinical Pharmacology, Department of Medicine, University College London, London, UK., Casas JP, Webster AR, Bird AC, Mann SS, Yates JR, Moore AT, Sepp T, Cipriani V, Bunce C, Khan JC, Shahid H, Swaroop A, Abecasis G, Branham KE, Zareparsi S, Bergen AA, Klaver CC, Baas DC, Zhang K, Chen Y, Gibbs D, Weber BH, Keilhauer CN, Fritsche LG, Lotery A, Cree AJ, Griffiths HL, Bhattacharya SS, Chen LL, Jenkins SA, Peto T, Lathrop M, Leveillard T, Gorin MB, Weeks DE, Ortube MC, Ferrell RE, Jakobsdottir J, Conley YP, Rahu M, Seland JH, Soubrane G, Topouzis F, Vioque J, Tomazzoli L, Young I, Whittaker J, Chakravarthy U, de Jong PT, Smeeth L, Fletcher A, Hingorani AD
Publikováno v:
International journal of epidemiology [Int J Epidemiol] 2012 Feb; Vol. 41 (1), pp. 250-62. Date of Electronic Publication: 2012 Jan 13.
Autor:
McKay GJ; Centre for Public Health, Queen’s University Belfast, Belfast, Northern Ireland. g.j.mckay@qub.ac.uk, Silvestri G, Chakravarthy U, Dasari S, Fritsche LG, Weber BH, Keilhauer CN, Klein ML, Francis PJ, Klaver CC, Vingerling JR, Ho L, De Jong PT, Dean M, Sawitzke J, Baird PN, Guymer RH, Stambolian D, Orlin A, Seddon JM, Peter I, Wright AF, Hayward C, Lotery AJ, Ennis S, Gorin MB, Weeks DE, Kuo CL, Hingorani AD, Sofat R, Cipriani V, Swaroop A, Othman M, Kanda A, Chen W, Abecasis GR, Yates JR, Webster AR, Moore AT, Seland JH, Rahu M, Soubrane G, Tomazzoli L, Topouzis F, Vioque J, Young IS, Fletcher AE, Patterson CC
Publikováno v:
American journal of epidemiology [Am J Epidemiol] 2011 Jun 15; Vol. 173 (12), pp. 1357-64. Date of Electronic Publication: 2011 Apr 15.