Knihovna AV ČR, v. v. i.
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Zobrazeno 1 - 10 of 122 pro vyhledávání: '"C M Black"'
1
Akademický článek
Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders
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
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2
Akademický článek
Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice.
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
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3
Retinal gene therapy in RPE-65 gene mediated inherited retinal dystrophy
Autor: Assad Jalil, Tsveta Ivanova, George Moussa, Neil R. A. Parry, Graeme C. M. Black
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
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38de24ccaee936db5ffc02123ba02eb0
https://doi.org/10.1038/s41433-022-02262-5
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4
Mast cell infiltration of the choroid and protease release are early events in age-related macular degeneration associated with genetic risk at both chromosomes 1q32 and 10q26
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
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5
In vitro effects of macrophages on orthopaedic implant alloys and local release of metallic alloy components
Autor: William M. Mihalko, B. R. Morrow, Richard A. Smith, C. M. Black, Griffin M Heise
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
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1df9bc901230b689cdc7126532e76957
https://doi.org/10.1302/0301-620x.102b7.bjj-2019-1556.r1
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6
Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases
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
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::79b804a3d1ed082a28bb88fee3d76014
https://pubmed.ncbi.nlm.nih.gov/29074561
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7
List of Contributors
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
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8
Maternal influence on feeding site selection of male and female lambs
Autor: Andres F. Cibils, Santiago A. Utsumi, E. R. Pollak, Robert L. Wesley, C. M. Black-Rubio
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
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a94dfa1a188d53ae18c412c8ed353b88
http://www.sciencedirect.com/science/article/pii/S1751731114000688
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9
Protein Kinase Cδ Deficiency Causes Mendelian Systemic Lupus Erythematosus With B Cell-Defective Apoptosis and Hyperproliferation
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⟩
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
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::0105647bb40b5b54bb7cebcdd5f6fd1d
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10
VPS13B and Cohen Syndrome
Autor: Forbes D. C. Manson, Kate E. Chandler, Graeme C. M. Black, Deborah J. Morris-Rosendahl
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a5f0bc16c426073673e566b343daf110
https://doi.org/10.1093/med/9780199934522.003.0192
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