Zobrazeno 1 - 10
of 122
pro vyhledávání: '"C M Black"'
Autor:
Charlie Rowlands, Huw B. Thomas, Jenny Lord, Htoo A. Wai, Gavin Arno, Glenda Beaman, Panagiotis Sergouniotis, Beatriz Gomes-Silva, Christopher Campbell, Nicole Gossan, Claire Hardcastle, Kevin Webb, Christopher O’Callaghan, Robert A. Hirst, Simon Ramsden, Elizabeth Jones, Jill Clayton-Smith, Andrew R. Webster, Genomics England Research Consortium, Andrew G. L. Douglas, Raymond T. O’Keefe, William G. Newman, Diana Baralle, Graeme C. M. Black, Jamie M. Ellingford
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-11 (2021)
Abstract The development of computational methods to assess pathogenicity of pre-messenger RNA splicing variants is critical for diagnosis of human disease. We assessed the capability of eight algorithms, and a consensus approach, to prioritize 249 v
Externí odkaz:
https://doaj.org/article/cff014b62747418fa2af4029a4e249c3
Autor:
Sarah J Garnai, Michelle L Brinkmeier, Ben Emery, Tomas S Aleman, Louise C Pyle, Biliana Veleva-Rotse, Robert A Sisk, Frank W Rozsa, Ayse Bilge Ozel, Jun Z Li, Sayoko E Moroi, Steven M Archer, Cheng-Mao Lin, Sarah Sheskey, Laurel Wiinikka-Buesser, James Eadie, Jill E Urquhart, Graeme C M Black, Mohammad I Othman, Michael Boehnke, Scot A Sullivan, Gregory L Skuta, Hemant S Pawar, Alexander E Katz, Laryssa A Huryn, Robert B Hufnagel, Genomic Ascertainment Cohort, Sally A Camper, Julia E Richards, Lev Prasov
Publikováno v:
PLoS Genetics, Vol 15, Iss 5, p e1008130 (2019)
Nanophthalmos is a rare, potentially devastating eye condition characterized by small eyes with relatively normal anatomy, a high hyperopic refractive error, and frequent association with angle closure glaucoma and vision loss. The condition constitu
Externí odkaz:
https://doaj.org/article/94bbb35e2ae74ac4ade880700b4d20c2
Publikováno v:
Eye.
Voretigene neparvovec (VN) is a gene therapeutic agent for treatment of retinal dystrophies caused by bi-allelic RPE65 mutations. We illustrate, both the benefits and pitfalls associated with ocular gene therapy in the same patient.Two eyes of one pa
Autor:
Selina Mcharg, Laura Booth, Rahat Perveen, Isabel Riba Garcia, Nicole Brace, Nadhim Bayatti, Panagiotis I. Sergouniotis, Alexander M. Phillips, Anthony J. Day, Graeme C. M. Black, Simon J. Clark, Andrew W. Dowsey, Richard D. Unwin, Paul N. Bishop
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America
Age-related macular degeneration (AMD) is a leading cause of visual loss. It has a strong genetic basis, and common haplotypes on chromosome (Chr) 1 (CFH Y402H variant) and on Chr10 (near HTRA1/ARMS2) contribute the most risk. Little is known about t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9974eae92af93fc4602c96f95d27da5f
http://livrepository.liverpool.ac.uk/3156385/1/547377_2_merged_1650304113.pdf
http://livrepository.liverpool.ac.uk/3156385/1/547377_2_merged_1650304113.pdf
Publikováno v:
The Bone & Joint Journal. :116-121
Aims This study aimed to determine if macrophages can attach and directly affect the oxide layers of 316L stainless steel, titanium alloy (Ti6Al4V), and cobalt-chromium-molybdenum alloy (CoCrMo) by releasing components of these alloys. Methods Murine
Autor:
Galuh D. N. Astuti, L. Ingeborgh van den Born, M. Imran Khan, Christian P. Hamel, Béatrice Bocquet, Gaël Manes, Mathieu Quinodoz, Manir Ali, Carmel Toomes, Martin McKibbin, Mohammed E. El-Asrag, Lonneke Haer-Wigman, Chris F. Inglehearn, Graeme C. M. Black, Carel B. Hoyng, Frans P. M. Cremers, Susanne Roosing
Publikováno v:
Genes, Vol 9, Iss 1, p 21 (2018)
Inherited retinal diseases (IRDs) display an enormous genetic heterogeneity. Whole exome sequencing (WES) recently identified genes that were mutated in a small proportion of IRD cases. Consequently, finding a second case or family carrying pathogeni
Externí odkaz:
https://doaj.org/article/62888b7ff2e64a29baaef9fe89864e05
Autor:
Jamie M, Ellingford, Bradley, Horn, Christopher, Campbell, Gavin, Arno, Stephanie, Barton, Catriona, Tate, Sanjeev, Bhaskar, Panagiotis I, Sergouniotis, Rachel L, Taylor, Keren J, Carss, Lucy F L, Raymond, Michel, Michaelides, Simon C, Ramsden, Andrew R, Webster, Graeme C M, Black
Publikováno v:
Journal of Medical Genetics
Background Diagnostic use of gene panel next-generation sequencing (NGS) techniques is commonplace for individuals with inherited retinal dystrophies (IRDs), a highly genetically heterogeneous group of disorders. However, these techniques have often
Autor:
Luis Amaya, Jane L Ashworth, Robert A Avery, Jack Bartram, Shannon J Beres, Gil Binenbaum, Valérie Biousse, Eileen E Birch, Susmito Biswas, Graeme C M Black, Joanna Black, Richard J C Bowman, John A Bradbury, Michael C Brodsky, Donal Brosnahan, Alejandra de Alba, Jayne E Camuglia, Susan M Carden, Giovanni Castano, Ingele Casteels, Yvonne Chung, Michael P Clarke, David K Coats, Richard Collin, John Crompton, Emmett T Cunningham, Joseph L Demer, Hélène Dollfus, Peter J Dolman, Sean P Donahue, Clive Edelsten, Alistair R Fielder, David R. FitzPatrick, Anne B Fulton, Brenda L Gallie, Megan Geloneck, Clare E Gilbert, Christy Giligson, Glen A Gole, William V Good, John R B Grigg, Hans Grossniklaus, Patrick Hamel, Sheryl M Handler, Ronald M Hansen, Gena Heidary, Richard W Hertle, Göran Darius Hildebrand, Graham E Holder, Creig S Hoyt, G Baker Hubbard, Amy K Hutchinson, Saurabh Jain, Robyn V Jamieson, Hanne Jensen, Nadja Kadom, Ramesh Kekunnaya, Robert C Kersten, Philippe Kestelyn, Jan E E Keunen, Peng Tee Khaw, Chong Ae Kim, Jan Koopman, Stephen P Kraft, Burton J Kushner, Scott R Lambert, G Robert LaRoche, Dorte Ancher Larsen, Andrew G Lee, Barry Lee, Phoebe Lenhart, Alki Liasis, Grant T Liu, Christopher Lloyd, Christopher J Lyons, Carey A Matsuba, Caroline J MacEwen, Alan A McNab, Vaishali Mehta, Michel Michaelides, Daniel Mojon, Hans Ulrik, Anthony T Moore, Andrew A M Morris, Nancy J Newman, Ken K Nischal, Una O'Colmain, Anna R O'Connor, Michael O'Keefe, Scott E Olitsky, Luis H Ospina, Darren T Oystreck, Maria Papadopoulos, Sunju Park, Evelyn A Paysse, Jason H Peragallo, Erika Mota Pereira, Rachel F Pilling, Stacy Pineles, Venkatesh Prajna, Frank Antony Proudlock, Narman Puvanachandra, Anthony G Quinn, Graham E Quinn, Jugnoo S Rahi, Michael X Repka, Joshua Robinson, Buddy Russell, Luis Carlos Ferreira de Sá, Virender Sachdeva, Daniel J Salchow, Richard L Scawn, Nicoline Schalij-Delfos, Mary J van Schooneveld, Jay Self, Panagiotis I Sergouniotis, Carol L Shields, Jerry A Shields, John J Sloper, Martin P Snead, Sameh E Soliman, Timothy John Sullivan, C Gail Summers, Kimberley Tan, David S Taylor, Dorothy A Thompson, Elias I Traboulsi, Stephen J Tuft, Jimmy M Uddin, Perumalsamy Vijayalakshmi, Patrick Watts, David R Weakley, Jill Razor Wells
Publikováno v:
Taylor and Hoyt's Pediatric Ophthalmology and Strabismus ISBN: 9780702066160
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e71d0488d689f92ef71fc4f8ddd8ab0d
https://doi.org/10.1016/b978-0-7020-6616-0.00115-8
https://doi.org/10.1016/b978-0-7020-6616-0.00115-8
Publikováno v:
Animal, Vol 8, Iss 6, Pp 991-999 (2014)
We conducted an experiment to determine whether early-life social learning of feeding site selection in lambs was sex-specific. Sixteen ewes and their new born lambs were used in a controlled experiment. Eight ewe–lamb pairs included a male lamb an
Autor:
Belot, Alexandre, Kasher, Paul R., Trotter, Eleanor W., Foray, Anne-Perrine, Debaud, Anne-Laure, Rice, Gillian I., Szynkiewicz, Marcin, Zabot, Marie-Therese, Rouvet, Isabelle, Bhaskar, Sanjeev S., Daly, Sarah B., Dickerson, Jonathan E., Mayer, Josephine, O'Sullivan, James, Juillard, Laurent, Urquhart, Jill E., Fawdar, Shameem, Marusiak, Anna A., Stephenson, Natalie, Waszkowycz, Bohdan, W Beresford, Michael, Biesecker, Leslie G., C M Black, Graeme, René, Céline, Eliaou, Jean-François, Fabien, Nicole, Ranchin, Bruno, Cochat, Pierre, Gaffney, Patrick M., Rozenberg, Flore, Lebon, Pierre, Malcus, Christophe, Crow, Yanick J., Brognard, John, Bonnefoy, Nathalie
Publikováno v:
Arthritis & Rheumatism
Arthritis & rheumatology
Arthritis & rheumatology, Wiley, 2013, 65 (8), pp.2161-2171. ⟨10.1002/art.38008⟩
Arthritis & rheumatology, 2013, 65 (8), pp.2161-2171. ⟨10.1002/art.38008⟩
Arthritis & rheumatology
Arthritis & rheumatology, Wiley, 2013, 65 (8), pp.2161-2171. ⟨10.1002/art.38008⟩
Arthritis & rheumatology, 2013, 65 (8), pp.2161-2171. ⟨10.1002/art.38008⟩
International audience; OBJECTIVE: Systemic lupus erythematosus (SLE) is a prototype autoimmune disease that is assumed to occur via a complex interplay of environmental and genetic factors. Rare causes of monogenic SLE have been described, providing