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pro vyhledávání: '"Casey RT"'
Autor:
Whitworth, J, Smith, PS, Martin, J-E, West, H, Luchetti, A, Rodger, F, Clark, G, Carss, K, Stephens, J, Stirrups, K, Penkett, C, Mapeta, R, Ashford, S, Megy, K, Shakeel, H, Ahmed, M, Adlard, J, Barwell, J, Brewer, C, Casey, RT, Armstrong, R, Cole, T, Evans, DG, Fostira, F, Greenhalgh, L, Hanson, H, Henderson, A, Hoffman, J, Izatt, L, Kumar, A, Kwong, A, Lalloo, F, Ong, KR, Paterson, J, Park, S-M, Chen-Shtoyerman, R, Searle, C, Side, L, Skytte, A-B, Snape, K, Woodward, ER, Tischkowitz, MD, Maher, ER, Aitman, T, Alachkar, H, Ali, S, Allen, L, Allsup, D, Ambegaonkar, G, Anderson, J, Antrobus, R, Arno, G, Arumugakani, G, Astle, W, Attwood, A, Austin, S, Bacchelli, C, Bakchoul, T, Bariana, TK, Baxendale, H, Bennett, D, Bethune, C, Bibi, S, Bitner-Glindzicz, M, Bleda, M, Boggard, H, Bolton-Maggs, P, Booth, C, Bradley, JR, Brady, A, Brown, M, Browning, M, Bryson, C, Burns, S, Calleja, P, Canham, N, Carmichael, J, Caulfield, M, Chalmers, E, Chandra, A, Chinnery, P, Chitre, M, Church, C, Clement, E, Clements-Brod, N, Clowes, V, Coghlan, G, Collins, P, Cookson, V, Cooper, N, Corris, P, Creaser-Myers, A, Dacosta, R, Daugherty, L, Davies, S, Davis, J, De Vries, M, Deegan, P, Deevi, SVV, Deshpande, C, Devlin, L, Dewhurst, E, Dixon, P, Doffinger, R, Dormand, N, Drewe, E, Edgar, D, Egner, W, Erber, WN, Erwood, M, Everington, T, Favier, R, Firth, H, Fletcher, D, Flinter, F, Frary, A, Freson, K, Furie, B, Furnell, A, Gale, D, Gardham, A, Gattens, M, Ghali, N, Ghataorhe, PK, Ghurye, R, Gibbs, S, Gilmour, K, Gissen, P, Goddard, S, Gomez, K, Gordins, P, Graf, S, Gräf, S, Greene, D, Greenhalgh, A, Greinacher, A, Grigoriadou, S, Grozeva, D, Hackett, S, Hadinnapola, C, Hague, R, Haimel, M, Halmagyi, C, Hammerton, T, Hart, D, Hayman, G, Heemskerk, JWM, Henderson, R, Hensiek, A, Henskens, Y, Herwadkar, A, Holden, S, Holder, M, Holder, S, Hu, F, Veld, A, Huissoon, A, Humbert, M, Hurst, J, James, R, Jolles, S, Josifova, D, Kazmi, R, Keeling, D, Kelleher, P, Kelly, AM, Kennedy, F, Kiely, D, Kingston, N, Koziell, A, Krishnakumar, D, Kuijpers, TW, Kuijpers, T, Kumararatne, D, Kurian, M, Laffan, MA, Lambert, MP, Allen, HL, Lango-Allen, H, Lawrie, A, Lear, S, Lees, M, Lentaigne, C, Liesner, R, Linger, R, Longhurst, H, Lorenzo, L, Louka, E, Machado, R, Ross, RM, Maclaren, R, Maher, E, Maimaris, J, Mangles, S, Manson, A, Markus, HS, Martin, J, Masati, L, Mathias, M, Matser, V, Maw, A, McDermott, E, McJannet, C, Meacham, S, Meehan, S, Mehta, S, Michaelides, M, Millar, CM, Moledina, S, Moore, A, Morrell, N, Mumford, A, Murng, S, Murphy, E, Nejentsev, S, Noorani, S, Nurden, P, Oksenhendler, E, Othman, S, Ouwehand, WH, Papadia, S, Parker, A, Pasi, J, Patch, C, Payne, J, Peacock, A, Peerlinck, K, Penkett, CJ, Pepke-Zaba, J, Perry, D, Perry, DJ, Pollock, V, Polwarth, G, Ponsford, M, Qasim, W, Quinti, I, Rankin, S, Rankin, J, Raymond, FL, Rayner-Matthews, P, Rehnstrom, K, Reid, E, Rhodes, CJ, Richards, M, Richardson, S, Richter, A, Roberts, I, Rondina, M, Rosser, E, Roughley, C, Roy, N, Rue-Albrecht, K, Samarghitean, C, Sanchis-Juan, A, Sandford, R, Santra, S, Sargur, R, Savic, S, Schotte, G, Schulman, S, Schulze, H, Scott, R, Scully, M, Seneviratne, S, Sewell, C, Shamardina, O, Shipley, D, Simeoni, I, Sivapalaratnam, S, Smith, KGC, Sohal, A, Southgate, L, Staines, S, Staples, E, Stark, H, Stauss, H, Stein, P, Stock, S, Suntharalingam, J, Talks, K, Tan, Y, Thachil, J, Thaventhiran, J, Thomas, E, Thomas, M, Thompson, D, Thrasher, A, Tischkowitz, M, Titterton, C, Toh, C-H, Toshner, M, Treacy, C, Trembath, R, Tuna, S, Turek, W, Turro, E, Van Geet, C, Veltman, M, Vogt, J, Von Ziegenweldt, J, Noordegraaf, AV, Wakeling, E, Wanjiku, I, Warner, TQ, Wassmer, E, Watkins, H, Watt, C, Webster, N, Welch, S, Westbury, S, Wharton, J, Whitehorn, D, Wilkins, M, Willcocks, L, Williamson, C, Woods, G, Wort, J, Yeatman, N, Yong, P, Young, T, Yu, P
Multiple primary tumors (MPTs) affect a substantial proportion of cancer survivors and can result from various causes, including inherited predisposition. Currently, germline genetic testing of MPT-affected individuals for variants in cancer-predispo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::19a3e811e3610b4cd93bf0053fb75216
https://doi.org/10.1016/j.ajhg.2018.04.013
https://doi.org/10.1016/j.ajhg.2018.04.013
Autor:
Casey, RT, Giger, O, Seetho, I, Marker, A, Pitfield, D, Boyle, Louise, Gurnell, M, Shaw, A, Tischowitz, M, Chatterjee, V, Janowitz, T, Mells, G, Corrie, P, Challis, B
Context: Metastatic adrenocortical carcinoma (ACC) is an aggressive malignancy with a poor prognosis and limited therapeutic options. A subset of ACC is due to Lynch syndrome, an inherited tumour syndrome resulting from germline mutations in mismatch
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c37280b933e458dbd3e9ba2eb66a4a07
Phaeochromocytomas and paragangliomas (PPGLs) are catecholamine secreting neuroendocrine tumours that predispose to haemodynamic instability. Currently, surgery is the only available curative treatment, but carries potential risks including hypertens
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19ba8fe5de59f2f10c95362b7832aa0d
Akademický článek
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Autor:
Casey, RT, Ascher, DB, Rattenberry, E, Izatt, L, Andrews, KA, Simpson, HL, Challis, B, Park, S-M, Bulusu, VR, Lalloo, F, Pires, DEV, West, H, Clark, GR, Smith, PS, Whitworth, J, Papathomas, TG, Taniere, P, Savisaar, R, Hurst, LD, Woodward, ER, Maher, ER
Purpose To evaluate the role of germline SDHA mutation analysis by (1) comprehensive literature review, (2) description of novel germline SDHA mutations and (3) in silico structural prediction analysis of missense substitutions in SDHA. Patients and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::82ef3368f87f3afa863e7f5c6f7e3de6
Akademický článek
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Autor:
Hendriks AEJ; Department of Paediatric Endocrinology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK & Department of Paediatrics, University of Cambridge, Cambridge, UK., Burns C; Department of Paediatric Haematology and Oncology, Cambridge University Hospital, Cambridge, UK., Fleming B; Department of Radiology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK., Harper I; Department of Nuclear Medicine, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK., Hook E; Department of Histopathology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK., Armstrong R; Department of Medical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK., Pamporaki C; Department of Internal Medicine III, University Hospital Carl Gustav Carus, Technische Universität Dresden, 01307 Dresden, Germany., Eisenhofer G; Department of Internal Medicine III, University Hospital Carl Gustav Carus, Technische Universität Dresden, 01307 Dresden, Germany., Murray MJ; Department of Paediatric Haematology and Oncology, Cambridge University Hospital, Cambridge, UK.; Department of Pathology, University of Cambridge, Cambridge, UK., Casey RT; Department of Endocrinology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.; Department of Medical Genetics, Cambridge University, Cambridge, UK.
Publikováno v:
The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2024 Aug 31. Date of Electronic Publication: 2024 Aug 31.
Autor:
Casey RT; Department of Medical Genetics, University of Cambridge and NIHR Cambridge Biomedical Research Centre, Cambridge, UK. rc674@cam.ac.uk.; Department of Endocrinology, Cambridge Cancer Centre and Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK. rc674@cam.ac.uk., Hendriks E; Department of Paediatric Diabetes and Endocrinology, Cambridge Cancer Centre and Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK., Deal C; Endocrine and Diabetes Service, CHU Sainte-Justine and University of Montreal, Montreal, Québec, Canada., Waguespack SG; Department of Endocrine Neoplasia and Hormonal Disorders, University of Texas MD Anderson Cancer Center, Houston, TX, USA., Wiegering V; University Children's Hospital, Department of Paediatric Hematology, Oncology and Stem Cell Transplantation, University of Würzburg, Würzburg, Germany., Redlich A; Paediatric Oncology Department, Otto von Guericke University Children's Hospital, Magdeburg, Germany., Akker S; St Bartholomew's Hospital, Barts Health NHS Trust, London, UK., Prasad R; Centre for Endocrinology, William Harvey Research Institute, Queen Mary University of London, London, UK., Fassnacht M; Department of Medicine, Division of Endocrinology and Diabetes, University Hospital, University of Würzburg, Würzburg, Germany., Clifton-Bligh R; Department of Diabetes and Endocrinology, Royal North Shore Hospital, Sydney, New South Wales, Australia., Amar L; Université de Paris, Paris, France.; Hypertension Unit, Hôpital Européen Georges Pompidou, Assistance Publique - Hôpitaux de Paris, Paris, France., Bornstein S; Department of Medicine III, University Hospital Carl Gustav Carus, Medical Faculty Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany., Canu L; Department of Experimental and Clinical Biomedical Sciences 'Mario Serio', University of Florence, Florence, Italy.; Centro di Ricerca e Innovazione sulle Patologie Surrenaliche, Azienda Ospedaliera Universitaria (AOU) Careggi, Florence, Italy., Charmandari E; Division of Endocrinology, Metabolism and Diabetes, First Department of Paediatrics, National and Kapodistrian University of Athens Medical School, 'Aghia Sophia' Children's Hospital, Athens, Greece., Chrisoulidou A; Unit of Endocrinology, Theagenio Hospital, Thessaloniki, Greece., Freixes MC; Hereditary Endocrine Cancer Group, Spanish National Cancer Research Centre (CNIO) and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Institute of Health Carlos III (ISCIII), Madrid, Spain., de Krijger R; Princess Maxima Center for Paediatric Oncology, Utrecht, Netherlands.; Department of Pathology, University Medical Center Utrecht, Utrecht, Netherlands., de Sanctis L; Department of Public Health and Paediatric Sciences, University of Turin, Turin, Italy., Fojo A; Division of Hematology/Oncology, Herbert Irving Comprehensive Cancer Center, Columbia University Irving Medical Center, New York, NY, USA., Ghia AJ; Department of Radiation Oncology, University Hospital of Texas, MD Anderson Cancer Center, Houston, TX, USA., Huebner A; Department of Paediatrics, Faculty of Medicine and University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany., Kosmoliaptsis V; Department of Surgery, University of Cambridge and National Institute for Health Research Cambridge Biomedical Research Centre, Addenbrooke's Hospital, Cambridge, UK.; Blood and Transplant Research Unit in Organ Donation and Transplantation, National Institute for Health Research, University of Cambridge, Cambridge, UK., Kuhlen M; Paediatrics and Adolescent Medicine, Faculty of Medicine, University of Augsburg, Augsburg, Germany., Raffaelli M; U.O.C. Chirurgia Endocrina e Metabolica, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.; Istituto di Semeiotica Chirurgica, Università Cattolica del Sacro Cuore, Rome, Italy., Lussey-Lepoutre C; Service de médecine nucléaire, Inserm U970, Sorbonne université, Groupe hospitalier Pitié-Salpétrière, Paris, France., Marks SD; Department of Paediatric Nephrology, Great Ormond Street Hospital for Children NHS Foundation Trust and NIHR GOSH Biomedical Research Centre, University College London Great Ormond Street Institute of Child Health, London, UK., Nilubol N; Surgical Oncology Program, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA., Parasiliti-Caprino M; Endocrinology, Diabetes and Metabolism, Department of Medical Sciences, University of Turin, Corso Dogliotti, Turin, Italy., Timmers HHJLM; Department of Internal Medicine, Radboud University Medical Centre, Nijmegen, Netherlands., Zietlow AL; Clinical Child and Adolescent Psychology, Institute of Clinical Psychology and Psychotherapy, Department of Psychology, TU Dresden, Dresden, Germany., Robledo M; Hereditary Endocrine Cancer Group, Spanish National Cancer Research Centre (CNIO) and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Institute of Health Carlos III (ISCIII), Madrid, Spain., Gimenez-Roqueplo AP; Université Paris Cité, PARCC, INSERM, Paris, France.; Service de Génétique, Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Paris, France., Grossman AB; Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford, UK.; Centre for Endocrinology, Barts and the London School of Medicine, London, UK.; ENETS Centre of Excellence, Royal Free Hospital, London, UK., Taïeb D; Department of Nuclear Medicine, La Timone University Hospital, CERIMED, Aix-Marseille University, Marseille, France., Maher ER; Department of Medical Genetics, University of Cambridge and NIHR Cambridge Biomedical Research Centre, Cambridge, UK., Lenders JWM; Department of Internal Medicine, Radboud University Medical Centre, Nijmegen, Netherlands., Eisenhofer G; Department of Medicine III, University Hospital Carl Gustav Carus, Medical Faculty Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany., Jimenez C; Department of Endocrine Neoplasia and Hormonal Disorders, University of Texas MD Anderson Cancer Center, Houston, TX, USA., Pacak K; Section on Medical Neuroendocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Rockville, MD, USA., Pamporaki C; Department of Medicine III, University Hospital Carl Gustav Carus, Medical Faculty Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany. Christina.Pamporaki@ukdd.de.
Publikováno v:
Nature reviews. Endocrinology [Nat Rev Endocrinol] 2024 Aug 27. Date of Electronic Publication: 2024 Aug 27.