Zobrazeno 1 - 10
of 208
pro vyhledávání: '"Nigel P Carter"'
Autor:
Susan M Gribble, Frances K Wiseman, Stephen Clayton, Elena Prigmore, Elizabeth Langley, Fengtang Yang, Sean Maguire, Beiyuan Fu, Diana Rajan, Olivia Sheppard, Carol Scott, Heidi Hauser, Philip J Stephens, Lucy A Stebbings, Bee Ling Ng, Tomas Fitzgerald, Michael A Quail, Ruby Banerjee, Kai Rothkamm, Victor L J Tybulewicz, Elizabeth M C Fisher, Nigel P Carter
Publikováno v:
PLoS ONE, Vol 8, Iss 4, p e60482 (2013)
Down syndrome (DS) is caused by trisomy of chromosome 21 (Hsa21) and presents a complex phenotype that arises from abnormal dosage of genes on this chromosome. However, the individual dosage-sensitive genes underlying each phenotype remain largely un
Externí odkaz:
https://doaj.org/article/40d01f7c551e41a4a19b62b717840f84
Autor:
Yeun-Jun Chung, Nigel P. Carter, Heike Fiegler, Hyun-Mi Kang, Jae-Wook Ryu, Mi-Seon Kwon, Jung-Sook Lee, Seon-Hee Yim, Tae-Min Kim
Purpose: Although many genomic alterations have been observed in lung cancer, their clinicopathologic significance has not been thoroughly investigated. This study screened the genomic aberrations across the whole genome of non–small cell lung canc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6960ff8521c472a2dd4838e1cda03496
https://doi.org/10.1158/1078-0432.c.6518817
https://doi.org/10.1158/1078-0432.c.6518817
Autor:
Yeun-Jun Chung, Nigel P. Carter, Heike Fiegler, Hyun-Mi Kang, Jae-Wook Ryu, Mi-Seon Kwon, Jung-Sook Lee, Seon-Hee Yim, Tae-Min Kim
Supplementary Tables S1-S4 from Genome-Wide Screening of Genomic Alterations and Their Clinicopathologic Implications in Non–Small Cell Lung Cancers
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18dfcf213038fd396cf3cc8d846c16f4
https://doi.org/10.1158/1078-0432.22441959
https://doi.org/10.1158/1078-0432.22441959
Autor:
Carol Tang, Bee Ling Ng, Siew Hong Leong, Oi Lian Kon, Sze Sing Lee, Nigel P. Carter, Kia Min Ng, Wai Har Ng, Soo Yong Tan, Kyaw Myo Lwin
Publikováno v:
npj Precision Oncology, Vol 1, Iss 1, Pp 1-8 (2017)
Chromosomal rearrangements are common in cancer. More than 50% occur in common fragile sites and disrupt tumor suppressors. However, such rearrangements are not known in gastric cancer. Here we report recurrent 18q2 breakpoints in 6 of 17 gastric can
Autor:
Michael Parker, Caroline F. Wright, G. Jawahar Swaminathan, Philip Jones, Stephen Clayton, Alejandro Sifrim, Daniel A. King, Netravathi Krishnappa, Laura E Mason, Vijaya Parthiban, Katherine I. Morley, Margriet van Kogelenberg, Matthew E. Hurles, David R. FitzPatrick, Jeremy F. McRae, Eugene Bragin, Elena Prigmore, Helen V. Firth, Kirsty Ambridge, Wendy D Jones, Diana Rajan, Ray Miller, Daniel M Barrett, Tanya Bayzetinova, A. Paul Bevan, Nigel P. Carter, Susan M. Gribble, Jeffrey C. Barrett, Tomas W Fitzgerald, Eleni A. Chatzimichali, Adrian Tivey, Anna Middleton
Publikováno v:
Lancet
Wright, C F, Fitzgerald, T W, Jones, W D, Clayton, S, McRae, J F, van Kogelenberg, M, King, D A, Ambridge, K, Barrett, D M, Bayzetinova, T, Bevan, A P, Bragin, E, Chatzimichali, E A, Gribble, S, Jones, P, Krishnappa, N, Mason, L E, Miller, R, Morley, K I, Parthiban, V, Prigmore, E, Rajan, D, Sifrim, A, Swaminathan, G J, Tivey, A R, Middleton, A, Parker, M, Carter, N P, Barrett, J C, Hurles, M E, FitzPatrick, D R, Firth, H V 2015, ' Genetic diagnosis of developmental disorders in the DDD study : a scalable analysis of genome-wide research data ', Lancet, vol. 385, no. 9975, pp. 1305-1314 . https://doi.org/10.1016/S0140-6736(14)61705-0
Europe PubMed Central
Wright, C F, Fitzgerald, T W, Jones, W D, Clayton, S, McRae, J F, van Kogelenberg, M, King, D A, Ambridge, K, Barrett, D M, Bayzetinova, T, Bevan, A P, Bragin, E, Chatzimichali, E A, Gribble, S, Jones, P, Krishnappa, N, Mason, L E, Miller, R, Morley, K I, Parthiban, V, Prigmore, E, Rajan, D, Sifrim, A, Swaminathan, G J, Tivey, A R, Middleton, A, Parker, M, Carter, N P, Barrett, J C, Hurles, M E, FitzPatrick, D R, Firth, H V 2015, ' Genetic diagnosis of developmental disorders in the DDD study : a scalable analysis of genome-wide research data ', Lancet, vol. 385, no. 9975, pp. 1305-1314 . https://doi.org/10.1016/S0140-6736(14)61705-0
Europe PubMed Central
BACKGROUND: Human genome sequencing has transformed our understanding of genomic variation and its relevance to health and disease, and is now starting to enter clinical practice for the diagnosis of rare diseases. The question of whether and how som
Publikováno v:
Springer Protocols Handbooks ISBN: 9783662529577
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5bd44f2d59564b0496d920b2339b98cb
https://doi.org/10.1007/978-3-662-52959-1_6
https://doi.org/10.1007/978-3-662-52959-1_6
Autor:
Siew Hong, Leong, Kyaw Myo, Lwin, Sze Sing, Lee, Wai Har, Ng, Kia Min, Ng, Soo Yong, Tan, Bee Ling, Ng, Nigel P, Carter, Carol, Tang, Oi, Lian Kon
Publikováno v:
NPJ Precision Oncology
Chromosomal rearrangements are common in cancer. More than 50% occur in common fragile sites and disrupt tumor suppressors. However, such rearrangements are not known in gastric cancer. Here we report recurrent 18q2 breakpoints in 6 of 17 gastric can
Autor:
Morris J. Brown, Sanjeev S. Bhaskar, Alison J. Coffey, Suzanne Rafelt, Kirsten McLay, John Bowes, Francesca Bredin, Alastair Compston, John C. Mansfield, Elaine R. Nimmo, Kate Downes, Peter McGuffin, Neil Walker, Anthony J. Balmforth, Philip Howard, Detelina Grozeva, Helen Stevens, Kate L. Lee, Richard D. Pearson, Gerome Breen, T. Daniel Andrews, Sheila Seal, Anna Elliot, Beverley M. Shields, Andrew T. Hattersley, Sarah Edkins, Ann E. Morgan, Gil McVean, Julian Maller, Millicent A. Stone, Adam Auton, Carol Scott, Michael R. Stratton, Matthew Woodburn, John R. B. Perry, Michael Conlon O'Donovan, Nigel P. Carter, Vincent Plagnol, Stephen Sawcer, Sarah Hines, Mahim Jain, Allan H. Young, Steve Eyre, Elilan Somaskantharajah, Alexander J. Mentzer, Niall Cardin, Eleanor Howard, Inês Barroso, Stephen C. L. Gough, Toby Johnson, Deborah P M Symmons, Christopher Holmes, David St Clair, Patricia B. Munroe, Sue Shaw-Hawkins, Emma Gray, Stephen W. Scherer, Tariq Ahmad, Jaswinder Bull, Debbie Hughes, E. Russell, Timothy M. Frayling, Chris Clee, I. Nicol Ferrier, James Lee, Dominic P. Kwiatkowski, Husam Hebaishi, Anne Hinks, Simon Myers, Gareth Evans, Eleftheria Zeggini, Katarina Spanova, Michael L. Mimmack, David M. Reid, Amanda J. Bennett, Richard T. Scott, Armand Valsesia, Derek P. Jewell, Andrew P. Morris, Peter Donnelly, Mark J. Caulfield, Jake K. Byrnes, Lars Feuk, Pile Harrison, Anna F. Dominiczak, Cathryn Edwards, Andrew Dunham, Dalila Pinto, Inga Prokopenko, Ian Jones, Craig Mowat, Nigel R. Ovington, Willem H. Ouwehand, Edward Flynn, Jason D. Cooper, Louise V. Wain, Alistair Forbes, Bernadette Ebbs, Jennifer Jolley, Jonathan Marchini, Peter S. Braund, Ifejinelo Onyiah, Mark Walker, Adrian V. S. Hill, Cordelia Langford, Anne M. Phillips, George Kirov, David P. Strachan, Oliver S. Burren, Martin D. Tobin, Anthony G. Wilson, Ian N. Bruce, Hana Lango-Allen, Alistair S. Hall, Natalie J. Prescott, Charles Lee, Clare Turnbull, Cecilia M. Lindgren, John D. Isaacs, Jack Satsangi, Liz Forty, John M. C. Connell, Neelam Hassanali, Hazel E. Drummond, Matthew A. Brown, John A. Todd, Joanna M. M. Howson, Jennifer G. Sambrook, Graham A. Hitman, Michael N. Weedon, Christopher Yau, Abiodun Onipinla, Kathy Stirrups, Chris Tyler-Smith, Darshna Dudakia, G. Mark Lathrop, Katherine Gordon-Smith, Nazneen Rahman, Christopher J. Groves, William G. Newman, Kirstie Parnell, Stephen G. Ball, Tomas W Fitzgerald, Paul Gilbert, Kevin Lewis, Charlie W. Lees, Polly Gibbs, Rachel M. Freathy, Aarno Palotie, Katarzyna Blaszczyk, Matthew E. Hurles, Jonathan Stephens, Lynne J. Hocking, Nicholas A. Watkins, Christopher G. Mathew, Helen Schuilenburg, David Pernet, Eleni Giannoulatou, Kimmo Palin, Nigel W. Rayner, Donald F. Conrad, Susan M. Ring, John R. Thompson, Debbie J. Smyth, Wendy L. McArdle, B. Paul Wordsworth, David M. Evans, Dunecan Massey, Naomi Hammond, Diana Eccles, Panos Deloukas, Sian Caesar, Chris P. Barnes, Sophia Steer, Anthony Attwood, Chris Wallace, Richard Redon, Paul Burton, Anne Barton, Marcus Pembrey, Michael John Owen, Jane Worthington, Mary E. Travers, Jeremy D. Sanderson, Meeta Maisuria-Armer, Elaine K. Green, Michael A. Quail, Oliver J. Brand, Anne Farmer, Matthew J. Simmonds, Neil Robertson, Nicholas John Craddock, Zhan Su, Jan Aerts, Martin Farrall, Hazel Arbury, Damjan Vukcevic, Paul Emery, Omer Gokumen, A Hall, Wendy Thomson, Jeffrey C. Barrett, Margaret Warren-Perry, Rhian Gwilliam, Sarah E. Hunt, Samuel Robson, Paul Martin, Audrey Duncanson, Anthony Renwick, John Webster, Lisa Jones, Mark I. McCarthy, Nilesh J. Samani, Matthew Hardy, Miles Parkes, John Burton, Jayne A. Franklyn
Publikováno v:
Nature
Nature, 2010, 464 (7289), pp.713-720. ⟨10.1038/nature08979⟩
Nature, Nature Publishing Group, 2010, 464 (7289), pp.713-720. ⟨10.1038/nature08979⟩
U86
Nature, 2010, 464 (7289), pp.713-720. ⟨10.1038/nature08979⟩
Nature, Nature Publishing Group, 2010, 464 (7289), pp.713-720. ⟨10.1038/nature08979⟩
U86
Copy number variants (CNVs) account for a major proportion of human genetic polymorphism and have been predicted to have an important role in genetic susceptibility to common disease. To address this we undertook a large, direct genome-wide study of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aabf06404a0287e631ec3785ace540b3
https://doi.org/10.1038/nature08979
https://doi.org/10.1038/nature08979
Autor:
Shom Shanker Bhattacharya, Leo Goodstadt, Leen Abu Safieh, Mai M. Abd El-Aziz, Amna Z. Shah, Michael E. Cheetham, Marcela Mena, M. F. El-Ashry, Elena Prigmore, C. O'Driscoll, Juan Ignacio Pieras, Salud Borrego, Nigel P. Carter, Christina Chakarova, Isabel Barragan, Guillermo Antiñolo, Chris P. Ponting
Publikováno v:
Digital.CSIC. Repositorio Institucional del CSIC
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3 pages, 2 figures, 1 table.-- PMID: 18836446 [PubMed].-- Supporting information (Suppl. Methods, Suppl. Note, Suppl. Figs 1–4, Suppl. Table 1) available at: http://www.nature.com/ng/journal/v40/n11/suppinfo/ng.241_S1.html
Using a positional c
Using a positional c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ac9836182b90264eab5d28357d70425
https://doi.org/10.1038/ng.241
https://doi.org/10.1038/ng.241
Autor:
Nigel P. Carter, Helen V. Firth, Matthew E. Hurles, A. Paul Bevan, Ganesh J. Swaminathan, Caroline F. Wright, Eugene Bragin, Manuel Corpas, Eleni A. Chatzimichali
Publikováno v:
Human Molecular Genetics. 21:R37-R44
Patients with developmental disorders often harbour sub-microscopic deletions or duplications that lead to a disruption of normal gene expression or perturbation in the copy number of dosage-sensitive genes. Clinical interpretation for such patients