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1دورية أكاديمية
المؤلفون: Isaac Allen, Hend Hassan, Walburga Yvonne Joko-Fru, Catherine Huntley, Lucy Loong, Tameera Rahman, Bethany Torr, Andrew Bacon, Craig Knott, Sophie Jose, Sally Vernon, Margreet Lüchtenborg, Joanna Pethick, Katrina Lavelle, Fiona McRonald, Diana Eccles, Eva J.A Morris, Steven Hardy, Clare Turnbull, Marc Tischkowitz, Paul Pharoah, Antonis C. Antoniou
المصدر: The Lancet Regional Health. Europe, Vol 40, Iss , Pp 100903- (2024)
مصطلحات موضوعية: Breast cancer, Second primary cancer, Risk, Incidence, Treatment, Pathology, Public aspects of medicine, RA1-1270
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Catherine Huntley, Lucy Loong, Corinne Mallinson, Rachel Bethell, Tameera Rahman, Neelam Alhaddad, Oliver Tulloch, Xue Zhou, Jason Lee, Paul Eves, Fiona McRonald, Bethany Torr, John Burn, Adam Shaw, Eva J.A. Morris, Kevin Monahan, Steven Hardy, Clare Turnbull, Jacqueline Cook, Ruth Armstrong, Munaza Ahmed, Terri McVeigh, Bianca DeSouza, Anjana Kulkarni, Heirdre Bezuidenhout, Richard Martin, Debbie Holliday, Rachel Hart, Fiona Lalloo, Alan Donaldson, Ruth Cleaver, Catherine Willis, Victoria Kiesel, Marie-Anne O'Reilly, Dorothy Halliday, Joyce Solomons, Kai Ren Ong
المصدر: EClinicalMedicine, Vol 69, Iss , Pp 102465- (2024)
مصطلحات موضوعية: Lynch syndrome, Registry, Genomics, Data, Medicine (General), R5-920
وصف الملف: electronic resource
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المؤلفون: Lucy Loong, Agostina Tardivo, Alexej Knaus, Mona Hashim, Alistair T. Pagnamenta, Kerstin Alt, Helena Böhrer-Rabel, Alfonso Caro-Llopis, Trevor Cole, Felix Distelmaier, Patrick Edery, Carlos R. Ferreira, Aleksandra Jezela-Stanek, Bronwyn Kerr, Gerhard Kluger, Peter M. Krawitz, Marius Kuhn, Johannes R. Lemke, Gaetan Lesca, Sally Ann Lynch, Francisco Martinez, Caroline Maxton, Hanna Mierzewska, Sandra Monfort, Joost Nicolai, Carmen Orellana, Deb K. Pal, Rafał Płoski, Oliver W. Quarrell, Monica Rosello, Małgorzata Rydzanicz, Ataf Sabir, Robert Śmigiel, Alexander P.A. Stegmann, Helen Stewart, Constance Stumpel, Elżbieta Szczepanik, Andreas Tzschach, Lynne Wolfe, Jenny C. Taylor, Yoshiko Murakami, Taroh Kinoshita, Allan Bayat, Usha Kini
المساهمون: Klinische Neurowetenschappen, MUMC+: MA Med Staf Spec Neurologie (9), RS: MHeNs - R1 - Cognitive Neuropsychiatry and Clinical Neuroscience, MUMC+: DA KG Lab Specialisten (9), RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA KG Polikliniek (9), Klinische Genetica
المصدر: Genetics in Medicine, 25(1), 37-48. Nature Publishing Group
مصطلحات موضوعية: Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49e9de0ae400c9106d281bf224eddb14
https://doi.org/10.1016/j.gim.2022.09.007 -
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المؤلفون: Lucy Loong, Alice Garrett, Sophie Allen, Subin Choi, Miranda Durkie, Alison Callaway, James Drummond, George J. Burghel, Rachel Robinson, Beth Torr, Ian R. Berry, Andrew J. Wallace, Diana M. Eccles, Sian Ellard, Emma Baple, D. Gareth Evans, Emma R. Woodward, Anjana Kulkarni, Fiona Lalloo, Marc Tischkowitz, Anneke Lucassen, Helen Hanson, Clare Turnbull
المصدر: CanVIG-UK 2022, ' Reclassification of clinically-detected sequence variants : Framework for genetic clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group UK) ', Genetics in medicine : official journal of the American College of Medical Genetics, vol. 24, no. 9, pp. 1867-1877 . https://doi.org/10.1016/j.gim.2022.05.002
مصطلحات موضوعية: Neoplasms, Genetic Variation, Humans, Reclassification, Recontact, Genetic Predisposition to Disease, Reinterpretation, Genetic Testing, Variant, Laboratories, Classification, Genetics (clinical)
وصف الملف: text
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d795a4272373cf5fa5895b9eda2fd9d7
https://www.research.manchester.ac.uk/portal/en/publications/reclassification-of-clinicallydetected-sequence-variants(7f42d42c-b845-4c2a-990e-38d7439b0c1e).html -
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المؤلفون: Helen, Hanson, Anjana, Kulkarni, Lucy, Loong, Grace, Kavanaugh, Bethany, Torr, Sophie, Allen, Munaza, Ahmed, Antonis C, Antoniou, Ruth, Cleaver, Tabib, Dabir, D Gareth, Evans, Ellen, Golightly, Rosalyn, Jewell, Kelly, Kohut, Ranjit, Manchanda, Alex, Murray, Jennie, Murray, Kai-Ren, Ong, Adam N, Rosenthal, Emma Roisin, Woodward, Diana M, Eccles, Clare, Turnbull, Marc, Tischkowitz, Karin, Williamson
المصدر: Journal of medical genetics.
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المؤلفون: Bethany Torr, Christopher Jones, Subin Choi, Sophie Allen, Grace Kavanaugh, Monica Hamill, Alice Garrett, Suzanne MacMahon, Lucy Loong, Alistair Reay, Lina Yuan, Mikel Valganon Petrizan, Kathryn Monson, Nicky Perry, Lesley Fallowfield, Valerie Jenkins, Rochelle Gold, Amy Taylor, Rhian Gabe, Jennifer Wiggins, Anneke Lucassen, Ranjit Manchanda, Ashu Gandhi, Angela George, Michael Hubank, Zoe Kemp, D Gareth Evans, Stephen Bremner, Clare Turnbull
المصدر: Torr, B, Choi, S, Allen, S, Kavanaugh, G, Hamill, M, Garrett, A, MacMahon, S, Loong, L, Reay, A, Yuan, L, Valganon Petrizan, M, Monson, K, Perry, N, Fallowfield, L, Jenkins, V, Gold, R, Taylor, A, Gabe, R, Wiggins, J, Lucassen, A, Manchanda, R, Gandhi, A, George, A, Hubank, M, Kemp, Z, Evans, D G, Bremner, S & Turnbull, C 2022, ' A digital pathway for genetic testing in UK NHS patients with cancer : BRCA-DIRECT randomised study internal pilot ', Journal of Medical Genetics . https://doi.org/10.1136/jmg-2022-108655
مصطلحات موضوعية: Manchester Cancer Research Centre, ResearchInstitutes_Networks_Beacons/mcrc, Genetics, Humans, Female, Breast Neoplasms, Genetic Testing, Referral and Consultation, State Medicine, United Kingdom, Genetics (clinical), Telephone
وصف الملف: text
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ebd56f4bf746f40812a6276eb8e07aa9
https://research.manchester.ac.uk/en/publications/280b7446-3bb8-46d5-a6bd-9809431c46fb -
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المؤلفون: Lucy Loong, Catherine Huntley, Fiona McRonald, Francesco Santaniello, Joanna Pethick, Bethany Torr, Sophie Allen, Oliver Tulloch, Shilpi Goel, Brian Shand, Tameera Rahman, Margreet Luchtenborg, Alice Garrett, Richard Barber, Tina Bedenham, David Bourn, Kirsty Bradshaw, Claire Brooks, Jonathan Bruty, George J Burghel, Samantha Butler, Chris Buxton, Alison Callaway, Jonathan Callaway, James Drummond, Miranda Durkie, Joanne Field, Lucy Jenkins, Terri P McVeigh, Roger Mountford, Rodney Nyanhete, Evgenia Petrides, Rachel Robinson, Tracy Scott, Victoria Stinton, James Tellez, Andrew J Wallace, Laura Yarram-Smith, Kate Sahan, Nina Hallowell, Diana M Eccles, Paul Pharoah, Marc Tischkowitz, Antonis C Antoniou, D Gareth Evans, Fiona Lalloo, Gail Norbury, Eva Morris, John Burn, Steven Hardy, Clare Turnbull
المساهمون: Huntley, Catherine [0000-0002-3797-7398], Torr, Bethany [0000-0003-3487-9749], Garrett, Alice [0000-0001-8942-283X], Burghel, George J [0000-0001-9360-8194], Eccles, Diana M [0000-0002-9935-3169], Pharoah, Paul [0000-0001-8494-732X], Antoniou, Antonis C [0000-0001-9223-3116], Evans, D Gareth [0000-0002-8482-5784], Apollo - University of Cambridge Repository
المصدر: Journal of medical genetics.
مصطلحات موضوعية: Genetics, Population, Genetics, Medical, Neoplasms, Databases, Genetic, Genetics, Humans, Genetic Testing, Genomics, Laboratories, DNA Mismatch Repair, Genetics (clinical), State Medicine
وصف الملف: text/xml; application/pdf
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المؤلفون: Hend Hassan, Tameera Rahman, Andrew Bacon, Craig Knott, Isaac Allen, Catherine Huntley, Lucy Loong, Yvonne Walburga, Katrina Lavelle, Eva Morris, Steven Hardy, Bethany Torr, Diana M Eccles, Clare Turnbull, Marc Tischkowitz, Paul Pharoah, Antonis C. Antoniou
المصدر: Cancer Research. 83:988-988
مصطلحات موضوعية: Cancer Research, Oncology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::fdb518795c0b4f13ecf7669e3c1131cd
https://doi.org/10.1158/1538-7445.am2023-988 -
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المؤلفون: Isaac Allen, Tameera Rahman, Andrew Bacon, Craig Knott, Sophie Jose, Sally Vernon, Hend Hassan, Catherine Huntley, Lucy Loong, Yvonne Walburga, Katrina Lavelle, Eva Morris, Steven Hardy, Beth Torr, Diana Eccles, Clare Turnbull, Marc Tischkowitz, Paul Pharoah, Antonis C. Antoniou
المصدر: Cancer Research. 83:3057-3057
مصطلحات موضوعية: Cancer Research, Oncology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::441c034d89dd5d6d9e47a1422aa8844a
https://doi.org/10.1158/1538-7445.am2023-3057 -
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المؤلفون: Lucy Loong, Cankut Cubuk, Subin Choi, Sophie Allen, Beth Torr, Alice Garrett, Chey Loveday, Miranda Durkie, Alison Callaway, George J. Burghel, James Drummond, Rachel Robinson, Ian R. Berry, Andrew Wallace, Diana M. Eccles, Marc Tischkowitz, Sian Ellard, James S. Ware, Helen Hanson, Clare Turnbull, S. Samant, A. Lucassen, A. Znaczko, A. Shaw, A. Ansari, A. Kumar, A. Donaldson, A. Murray, A. Ross, A. Taylor-Beadling, A. Taylor, A. Innes, A. Brady, A. Kulkarni, A.-C. Hogg, A. Ramsay Bowden, A. Hadonou, B. Coad, B. McIldowie, B. Speight, B. DeSouza, B. Mullaney, C. McKenna, C. Brewer, C. Olimpio, C. Clabby, C. Crosby, C. Jenkins, C. Armstrong, C. Bowles, C. Brooks, C. Byrne, C. Maurer, D. Baralle, D. Chubb, D. Stobo, D. Moore, D. O'Sullivan, D. Donnelly, D. Randhawa, D. Halliday, E. Atkinson, E. Baple, E. Rauter, E. Johnston, E. Woodward, E. Maher, E. Sofianopoulou, E. Petrides, F. Lalloo, F. McRonald, F. Pelz, I. Frayling, G. Evans, G. Corbett, G. Rea, H. Clouston, H. Powell, H. Williamson, H. Carley, H.J.W. Thomas, I. Tomlinson, J. Cook, J. Hoyle, J. Tellez, J. Whitworth, J. Williams, J. Murray, J. Campbell, J. Tolmie, J. Field, J. Mason, J. Burn, J. Bruty, J. Callaway, J. Grant, J. Del Rey Jimenez, J. Pagan, J. VanCampen, J. Barwell, K. Monahan, K. Tatton-Brown, K.-R. Ong, K. Murphy, K. Andrews, K. Mokretar, K. Cadoo, K. Smith, K. Baker, K. Brown, K. Reay, K. McKay Bounford, K. Bradshaw, K. Russell, K. Stone, K. Snape, L. Crookes, L. Reed, L. Taggart, L. Yarram, L. Cobbold, L. Walker, L. Hawkes, L. Busby, L. Izatt, L. Kiely, L. Hughes, L. Side, L. Sarkies, K.-L. Greenhalgh, M. Shanmugasundaram, M. Duff, M. Bartlett, M. Watson, M. Owens, M. Bradford, M. Huxley, M. Slean, M. Ryten, M. Smith, M. Ahmed, N. Roberts, C. O'Brien, O. Middleton, P. Tarpey, P. Logan, P. Dean, P. May, P. Brace, R. Tredwell, R. Harrison, R. Hart, R. Kirk, R. Martin, R. Nyanhete, R. Wright, R. Davidson, R. Cleaver, S. Talukdar, S. Butler, J. Sampson, S. Ribeiro, S. Dell, S. Mackenzie, S. Hegarty, S. Albaba, S. McKee, S. Palmer-Smith, S. Heggarty, S. MacParland, S. Greville-Heygate, S. Daniels, S. Prapa, S. Abbs, S. Tennant, S. Hardy, S. MacMahon, T. McVeigh, T. Foo, T. Bedenham, T. Cranston, T. McDevitt, V. Clowes, V. Tripathi, V. McConnell, N. Woodwaer, Y. Wallis, Z. Kemp, G. Mullan, L. Pierson, L. Rainey, C. Joyce, A. Timbs, A.-M. Reuther, B. Frugtniet, C. Husher, C. Lawn, C. Corbett, D. Nocera-Jijon, D. Reay, E. Cross, F. Ryan, H. Lindsay, J. Oliver, J. Dring, J. Spiers, J. Harper, K. Ciucias, L. Connolly, M. Tsang, R. Brown, S. Shepherd, S. Begum, T. Tadiso, T. Linton-Willoughby, H. Heppell, K. Sahan, L. Worrillow, Z. Allen, M. Barlett, C. Watt, M. Hegarty
المساهمون: British Heart Foundation, Wellcome Trust
المصدر: Loong, L, Cubuk, C, Choi, S, Allen, S, Torr, B, Garrett, A, Loveday, C, Durkie, M, Callaway, A, Burghel, GJ, Drummond, J, Robinson, R, Berry, IR, Wallace, A & CanVIG-UK 2021, ' Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants. ', Genetics in medicine : official journal of the American College of Medical Genetics, vol. 24, no. 3, pp. 552-563 . https://doi.org/10.1016/j.gim.2021.11.011
مصطلحات موضوعية: Concordance, Mutation, Missense, Biology, PM5, CanVIG-UK, Humans, Missense mutation, Genetic Predisposition to Disease, Variant, Codon, Genetics (clinical), Genetics, Genetics & Heredity, 0604 Genetics, BRCA1 Protein, Genetic Variation, 1103 Clinical Sciences, Pathogenicity, Classification, MutS Homolog 2 Protein, Genetic Variation/genetics, Mutation, Missense/genetics, MSH2, ACMG, BRCA1 Protein/genetics, MutS Homolog 2 Protein/genetics
وصف الملف: text
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a638418e559b935daf78b3ef4e1f05a
http://hdl.handle.net/10044/1/95227
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