المؤلفون: 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

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::19a3e811e3610b4cd93bf0053fb75216
https://doi.org/10.1016/j.ajhg.2018.04.013

المؤلفون: 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

المساهمون: Giger, Olivier [0000-0003-3390-6397], Boyle, Louise [0000-0002-3105-6555], Gurnell, Mark [0000-0001-5745-6832], Chatterjee, Krishna [0000-0002-2654-8854], Apollo - University of Cambridge Repository

مصطلحات موضوعية: Adrenocortical carcinoma, Lynch syndrome, Pembrolizumab, Cortisol, Hepatitis

وصف الملف: application/pdf; application/vnd.openxmlformats-officedocument.wordprocessingml.document

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c37280b933e458dbd3e9ba2eb66a4a07

المؤلفون: Challis, BG, Casey, RT, Simpson, HL, Gurnell, M

المساهمون: Gurnell, Mark [0000-0001-5745-6832], Apollo - University of Cambridge Repository

مصطلحات موضوعية: Paraganglioma, Postoperative Complications, Preoperative Care, Humans, Pheochromocytoma, Adrenergic alpha-Antagonists

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19ba8fe5de59f2f10c95362b7832aa0d

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المؤلفون: 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

مصطلحات موضوعية: variant, pathogenesis, SDHA, 3. Good health

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::82ef3368f87f3afa863e7f5c6f7e3de6

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المؤلفون: Taïeb D; Department of Nuclear Medicine, Aix-Marseille University, La Timone University Hospital, Marseille, France., Nölting S; Department of Endocrinology, Diabetology and Clinical Nutrition, University Hospital Zurich and University of Zurich, Zurich, Switzerland.; Department of Medicine IV, University Hospital, Ludwig-Maximilians-University Munich, Munich, Germany., Perrier ND; Department of Surgical Oncology, MD Anderson Cancer Center, Houston, TX, USA., Fassnacht M; Department of Medicine, Division of Endocrinology and Diabetes, University Hospital, University of Würzburg, Würzburg, Germany., Carrasquillo JA; Molecular Imaging and Therapy Service, Radiology Department, Memorial Sloan Kettering Cancer Center, New York, NY, USA., Grossman AB; Green Templeton College, University of Oxford, Oxford, UK.; NET Unit, Royal Free Hospital, London, UK., Clifton-Bligh R; Department of Endocrinology, Royal North Shore Hospital and Cancer Genetics Laboratory, Kolling Institute, University of Sydney, Sydney, New South Wales, Australia., Wanna GB; Department of Otolaryngology-Head and Neck Surgery, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Schwam ZG; Department of Otolaryngology-Head and Neck Surgery, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Amar L; Université Paris Cité, Inserm, PARCC, Equipe Labellisée par la Ligue contre le Cancer, Paris, France.; Hypertension Unit, Hôpital Européen Georges Pompidou, Assistance Publique - Hôpitaux de Paris, Paris, France., Bourdeau I; Division of Endocrinology, Department of Medicine and Research Center, Centre hospitalier de l'Université de Montréal (CHUM), Montréal, Québec, Canada., Casey RT; Department of Medical Genetics, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK., Crona J; Department of Medical Sciences, Uppsala University, Uppsala, Sweden., Deal CL; Research Center, CHU Sainte-Justine and Dept. of Paediatrics, University of Montreal, Montreal, Québec, Canada., Del Rivero J; Developmental Therapeutics Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA., Duh QY; Department of Surgery, UCSF-Mount Zion, San Francisco, CA, USA., Eisenhofer G; Institute of Clinical Chemistry and Laboratory Medicine, University Hospital Carl Gustav Carus at the TU Dresden, Dresden, Germany., Fojo T; Columbia University Irving Medical Center, New York City, NY, USA.; James J. Peters VA Medical Center, New York City, NY, USA., Ghayee HK; Division of Endocrinology & Metabolism, Department of Medicine, University of Florida, Gainesville, FL, USA.; Malcom Randall VA Medical Center, Gainesville, FL, USA., Gimenez-Roqueplo AP; Université Paris Cité, Inserm, PARCC, Equipe Labellisée par la Ligue contre le Cancer, Paris, France.; Department of Oncogenetics and Cancer Genomic Medicine, AP-HP, Hôpital européen Georges Pompidou, Paris, France., Gill AJ; University of Sydney, Sydney NSW Australia, Cancer Diagnosis and Pathology Group Kolling Institute of Medical Research, Royal North Shore Hospital, St Leonards, New South Wales, Australia.; NSW Health Pathology Department of Anatomical Pathology, Royal North Shore Hospital, St Leonards, New South Wales, Australia., Hicks R; Department of Medicine, St Vincent's Hospital Medical School, Melbourne, Victoria, Australia., Imperiale A; Department of Nuclear Medicine and Molecular Imaging - Institut de Cancérologie de Strasbourg Europe (ICANS), IPHC, UMR 7178, CNRS, University of Strasbourg, Strasbourg, France., Jha A; Section on Medical Neuroendocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA., Kerstens MN; Department of Endocrinology, University Medical Center Groningen, Groningen, Netherlands., de Krijger RR; Department of Pathology, University Medical Center Utrecht, Utrecht, Netherlands.; Princess Máxima Center for paediatric oncology, Utrecht, Netherlands., Lacroix A; Division of Endocrinology, Department of Medicine, Centre de recherche du Centre hospitalier de l'Université de Montréal, Université de Montréal, Montréal, Canada., Lazurova I; Department of Internal Medicine 1, University Hospital, P.J. Šafárik University, Košice, Slovakia., Lin FI; Molecular Imaging Program, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA., Lussey-Lepoutre C; Université Paris Cité, Inserm, PARCC, Equipe Labellisée par la Ligue contre le Cancer, Paris, France.; Sorbonne University, Department of Nuclear Medicine, Pitié-Salpêtrière, Paris, France., Maher ER; Department of Medical Genetics, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK., Mete O; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada., Naruse M; Clinical Research Institute of Endocrinology and Metabolism, National Hospital Organization Kyoto Medical Center and Endocrine Center, Kyoto, Japan.; Clinical Research Center, Ijinkai Takeda General Hospital, Kyoto, Japan., Nilubol N; Surgical Oncology Program, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA., Robledo M; Hereditary Endocrine Cancer Group, Spanish National Cancer Research Center (CNIO), Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Institute of Health Carlos III (ISCIII), Madrid, Spain., Sebag F; Department of Endocrine Surgery, Aix-Marseille University, Conception Hospital, Marseille, France., Shah NS; Department of Endocrinology, Seth GS Medical College and KEM Hospital, Mumbai, Maharashtra, India., Tanabe A; Department of Diabetes, Endocrinology and Metabolism, National Center for Global Health and Medicine, Tokyo, Japan., Thompson GB; Division of Endocrine Surgery, Department of Surgery, Mayo Clinic, Rochester, MN, USA., Timmers HJLM; Department of Internal Medicine, Radboud University Medical Center, Nijmegen, Netherlands., Widimsky J; Third Department of Medicine, Department of Endocrinology and Metabolism of the First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic., Young WJ Jr; Division of Endocrinology, Diabetes, Metabolism, and Nutrition, Mayo Clinic, Rochester, MN, USA., Meuter L; Stanford University School of Medicine, Department of Physician Assistant Studies, Stanford, CA, USA., Lenders JWM; Department of Internal Medicine, Radboud University Medical Center, Nijmegen, Netherlands., Pacak K; Section on Medical Neuroendocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA. karel@mail.nih.gov.

المصدر: Nature reviews. Endocrinology [Nat Rev Endocrinol] 2024 Mar; Vol. 20 (3), pp. 168-184. Date of Electronic Publication: 2023 Dec 14.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101500078 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1759-5037 (Electronic) Linking ISSN: 17595029 NLM ISO Abbreviation: Nat Rev Endocrinol Subsets: MEDLINE

مواضيع طبية MeSH: Pheochromocytoma*/genetics , Pheochromocytoma*/therapy , Pheochromocytoma*/diagnosis , Paraganglioma*/genetics , Paraganglioma*/therapy , Adrenal Gland Neoplasms*/genetics , Adrenal Gland Neoplasms*/therapy , Adrenal Gland Neoplasms*/diagnosis, Adult ; Humans ; Child ; Germ-Line Mutation/genetics ; Succinate Dehydrogenase/genetics

المؤلفون: Giger OT; Pathology, University of Cambridge, Cambridge, UK olivier.giger@nhs.net., Ten Hoopen R; Oncology, University of Cambridge, Cambridge, UK., Shorthouse D; Department of Medical Physics and Biomedical Engineering, University College London, London, UK., Abdullahi S; Pathology, University of Cambridge, Cambridge, UK., Bulusu VR; Oncology, Addenbrooke's Hospital, Cambridge, UK., Jadhav S; Oncology, University of Cambridge, Cambridge, UK., Maher ER; Department of Medical Genetics and Cancer Research, University of Cambridge, Cambridge, UK., Casey RT; Department of Medical Genetics and Cancer Research, University of Cambridge, Cambridge, UK.

المصدر: Journal of clinical pathology [J Clin Pathol] 2023 Dec 14; Vol. 77 (1), pp. 34-39. Date of Electronic Publication: 2023 Dec 14.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: BMJ Pub. Group Country of Publication: England NLM ID: 0376601 Publication Model: Electronic Cited Medium: Internet ISSN: 1472-4146 (Electronic) Linking ISSN: 00219746 NLM ISO Abbreviation: J Clin Pathol Subsets: MEDLINE

مواضيع طبية MeSH: Succinate Dehydrogenase* , Gastrointestinal Stromal Tumors*/genetics , Gastrointestinal Stromal Tumors*/pathology, Humans ; DNA Methylation ; Epigenesis, Genetic ; Mutation ; Protein-Tyrosine Kinases/genetics ; DNA Repair Enzymes/genetics ; DNA Repair Enzymes/metabolism ; DNA Modification Methylases/genetics ; Tumor Suppressor Proteins/genetics ; Tumor Suppressor Proteins/metabolism