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المؤلفون: Judith Favier, Patricia L. M. Dahia, Anne-Paule Gimenez-Roqueplo, Pascal Pigny, Jean-Pierre Bayley, Amira Mohamed, Delphine Mirebeau-Prunier, Mercedes Robledo, Rodrigo A. Toledo, Nelly Burnichon, Anne Barlier, Francesca Schiavi, Roderick J. Clifton-Bligh, Alberto Cascón, Sophie Giraud, Laurene Ben Aim, Tonino Ercolino, Eamonn R. Maher
المساهمون: Institut Català de la Salut, [Ben Aim L] Genetics Department, Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpital Européen Georges Pompidou, Paris, France. [Maher ER] Department of Medical Genetics, University of Cambridge and NIHR Cambridge Biomedical Research Centre, Cambridge, UK. [Cascon A] Hereditary Endocrine Cancer Group, CNIO, Madrid, Spain. [Barlier A] Laboratory of Molecular Biology, La Conception Hospital, Marseille, France. [Giraud S] Department of Genetics, Hospices Civils de Lyon, Bron, France. [Ercolino T] Endocrinology Unit, Azienda Ospedaliero-Universitaria Careggi, Firenze, Italy. [Toledo RA] CIBERONC, Gastrointestinal and Endocrine Tumors, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus, Maher, Eamonn R [0000-0002-6226-6918], Pigny, Pascal [0000-0003-3926-4487], Bayley, Jean Pierre [0000-0002-8288-0050], Burnichon, Nelly [0000-0001-7972-5845], Apollo - University of Cambridge Repository
المصدر: Scientia
Journal of Medical Genetics. BMJ PUBLISHING GROUP
Journal of Medical Geneticsمصطلحات موضوعية: medicine.medical_specialty, Neoplasms::Neoplasms by Histologic Type::Neoplasms, Germ Cell and Embryonal::Neuroectodermal Tumors::Neuroendocrine Tumors::Paraganglioma::Pheochromocytoma [DISEASES], databases, SDHB, Adrenal Gland Neoplasms, human genetics, Neoplasms::Neoplasms by Histologic Type::Neoplasms, Germ Cell and Embryonal::Neuroectodermal Tumors::Neuroendocrine Tumors::Paraganglioma [DISEASES], Context (language use), adrenal gland diseases, Pheochromocytoma, computer.software_genre, Glàndules suprarenals - Malalties - Aspectes genètics, genetic testing, Paraganglioma, neoplasias::neoplasias por tipo histológico::neoplasias de células germinales y embrionarias::tumores neuroectodérmicos::tumores neuroendocrinos::paraganglioma::feocromocitoma [ENFERMEDADES], Diagnosis::Diagnostic Techniques and Procedures::Clinical Laboratory Techniques::Genetic Testing [ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT], Genetics, medicine, Humans, Cancer genetics, Genetics (clinical), Germ-Line Mutation, Genetic testing, Hereditary Paraganglioma, Database, medicine.diagnostic_test, neoplasias::neoplasias por localización::neoplasias de las glándulas endocrinas::neoplasias de las glándulas suprarrenales [ENFERMEDADES], business.industry, neoplasias::neoplasias por tipo histológico::neoplasias de células germinales y embrionarias::tumores neuroectodérmicos::tumores neuroendocrinos::paraganglioma [ENFERMEDADES], Cromosomes humans - Anomalies - Diagnòstic, diagnóstico::técnicas y procedimientos diagnósticos::técnicas de laboratorio clínico::pruebas genéticas [TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS], medicine.disease, Human genetics, Succinate Dehydrogenase, genetic variation, Medical genetics, genetic, Leiden Open Variation Database, business, Neoplasms::Neoplasms by Site::Endocrine Gland Neoplasms::Adrenal Gland Neoplasms [DISEASES], computer, Tumors neuroendocrins - Aspectes genètics
وصف الملف: application/pdf; text/xml
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::27bcc940176677a14752394cc9be5864
https://hdl.handle.net/11351/9696 -
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المؤلفون: Helen Sewell, Nick Hornigold, Naveen S. Vasudev, Eamonn R. Maher, Margaret A. Knowles, Mini Menon, Tsutomu Fukuwatari, Yasser Riazalhosseini, Alvis Brazma, Karen R. Dunn, Selina Bhattarai, Rachel A. Craven, Rosamonde E. Banks, Adrian L. Harris, Julie E. Burns, Alexandre Zougman, Peter Selby, Lara Feulner, Ghislaine Scelo, Michael Shires, Sebastian Trainor, Rebecca Shreeve, Joanne Brown, Mark Lathrop
المساهمون: Vasudev, Naveen S [0000-0001-8470-7481], Apollo - University of Cambridge Repository, Vasudev, Naveen S. [0000-0001-8470-7481]
المصدر: British Journal of Cancer
مصطلحات موضوعية: Proteomics, Cancer Research, Kynurenine pathway, 631/67/589/1588/1351, Nicotinamide phosphoribosyltransferase, Chromophobe cell, Biology, 631/67/2327, Article, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Immune system, Kynurenine 3-Monooxygenase, Downregulation and upregulation, Renal cell carcinoma, Cell Line, Tumor, medicine, Humans, 3-Hydroxyanthranilate 3,4-Dioxygenase, Nicotinamide Phosphoribosyltransferase, Carcinoma, Renal Cell, Kynurenine, 030304 developmental biology, 0303 health sciences, Gene Expression Profiling, medicine.disease, Cancer metabolism, Gene Expression Regulation, Neoplastic, Oncology, chemistry, 030220 oncology & carcinogenesis, biology.protein, Cancer research, Phosphoribosyltransferase, Cytokines, Tumor Escape, Metabolic Networks and Pathways
وصف الملف: application/pdf; text/xml; application/zip
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المؤلفون: Marc Tischkowitz, James Whitworth, Eamonn R. Maher, Anne Y. Warren, Emma R. Woodward, Bruce Castle, Francis H. Sansbury, Philip Smith, Hannah West
المساهمون: Smith, Philip S [0000-0002-9306-1747], Whitworth, James [0000-0002-3682-2298], Sansbury, Francis H [0000-0002-5048-3309], Woodward, Emma R [0000-0002-6297-2855], Tischkowitz, Marc [0000-0002-7880-0628], Maher, Eamonn R [0000-0002-6226-6918], Apollo - University of Cambridge Repository
مصطلحات موضوعية: Adult, Male, Cancer Research, renal cell carcinoma, Adolescent, Biology, urologic and male genital diseases, Germline, 03 medical and health sciences, Genetic Heterogeneity, 0302 clinical medicine, Locus heterogeneity, Renal cell carcinoma, Genetics, medicine, Humans, Clinical significance, Genetic Testing, Family history, Child, CHEK2, Carcinoma, Renal Cell, Germ-Line Mutation, Genetic testing, Aged, Microphthalmia-Associated Transcription Factor, medicine.diagnostic_test, BRCA1 Protein, BRIP1, Middle Aged, medicine.disease, inherited, Fanconi Anemia Complementation Group Proteins, Kidney Neoplasms, female genital diseases and pregnancy complications, Checkpoint Kinase 2, predisposition, 030220 oncology & carcinogenesis, Female, RNA Helicases
وصف الملف: application/pdf
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المؤلفون: Emilia M. Swietlik, Daniel Greene, Na Zhu, Karyn Megy, Marcella Cogliano, Smitha Rajaram, Divya Pandya, Tobias Tilly, Katie A. Lutz, Carrie C.L. Welch, Michael W. Pauciulo, Laura Southgate, Jennifer M. Martin, Carmen M. Treacy, Christopher J. Penkett, Jonathan C. Stephens, Harm J. Bogaard, Colin Church, Gerry Coghlan, Anna W. Coleman, Robin Condliffe, Christina A. Eichstaedt, Mélanie Eyries, Henning Gall, Stefano Ghio, Barbara Girerd, Ekkehard Grünig, Simon Holden, Luke Howard, Marc Humbert, David G. Kiely, Gabor Kovacs, Jim Lordan, Rajiv D. Machado, Robert V. MacKenzie Ross, Colm McCabe, Shahin Moledina, David Montani, Horst Olschewski, Joanna Pepke-Zaba, Laura Price, Christopher J. Rhodes, Werner Seeger, Florent Soubrier, Jay Suntharalingam, Mark R. Toshner, Anton Vonk Noordegraaf, John Wharton, James M. Wild, Stephen John Wort, Allan Lawrie, Martin R. Wilkins, Richard C. Trembath, Yufeng Shen, Wendy K. Chung, Andrew J. Swift, William C. Nichols, Nicholas W. Morrell, Stefan Gräf, Stephen Abbs, Lara Abulhoul, Julian Adlard, Munaza Ahmed, Timothy J. Aitman, Hana Alachkar, David J. Allsup, Philip Ancliff, Richard Antrobus, Ruth Armstrong, Gavin Arno, Sofie Ashford, William J. Astle, Anthony Attwood, Paul Aurora, Christian Babbs, Chiara Bacchelli, Tamam Bakchoul, Siddharth Banka, Tadbir Bariana, Julian Barwell, Joana Batista, Helen E. Baxendale, Phil L. Beales, David L. Bennett, Agnieszka Bierzynska, Tina Biss, Maria A.K. Bitner-Glindzicz, Graeme C. Black, Marta Bleda, Iulia Blesneac, Detlef Bockenhauer, Sara Boyce, John R. Bradley, Gerome Breen, Paul Brennan, Carole Brewer, Matthew Brown, Andrew C. Browning, Michael J. Browning, Rachel J. Buchan, Matthew S. Buckland, Teofila Bueser, Carmen Bugarin Diz, John Burn, Siobhan O. Burns, Oliver S. Burren, Nigel Burrows, Carolyn Campbell, Gerald Carr-White, Keren Carss, Ruth Casey, Mark J. Caulfield, Jenny Chambers, John Chambers, Melanie M.Y. Chan, Floria Cheng, Patrick F. Chinnery, Manali Chitre, Martin T. Christian, Jill Clayton-Smith, Maureen Cleary, Naomi Clements Brod, Elizabeth Colby, Trevor R.P. Cole, Janine Collins, Peter W. Collins, Cecilia J. Compton, H. Terence Cook, Stuart Cook, Nichola Cooper, Paul A. Corris, Nicola S. Curry, Matthew J. Daniels, Mehul Dattani, Louise C. Daugherty, John Davis, Anthony De Soyza, Sri V.V. Deevi, Timothy Dent, Charu Deshpande, Eleanor F. Dewhurst, Peter H. Dixon, Sofia Douzgou, Kate Downes, Anna M. Drazyk, Elizabeth Drewe, Daniel Duarte, Tina Dutt, J. David M. Edgar, Karen Edwards, William Egner, Melanie N. Ekani, Perry Elliott, Wendy N. Erber, Marie Erwood, Maria C. Estiu, Dafydd Gareth Evans, Gillian Evans, Tamara Everington, Hiva Fassihi, Remi Favier, Debra Fletcher, Frances A. Flinter, R. Andres Floto, Tom Fowler, James Fox, Amy J. Frary, Courtney E. French, Kathleen Freson, Mattia Frontini, Abigail Furnell, Daniel P. Gale, Vijeya Ganesan, Michael Gattens, Hossein-Ardeschir Ghofrani, J. Simon R. Gibbs, Kate Gibson, Kimberly C. Gilmour, Nicholas S. Gleadall, Sarah Goddard, Keith Gomez, Pavels Gordins, David Gosal, Jodie Graham, Luigi Grassi, Lynn Greenhalgh, Andreas Greinacher, Paolo Gresele, Philip Griffiths, Sofia Grigoriadou, Detelina Grozeva, Mark Gurnell, Scott Hackett, Charaka Hadinnapola, Rosie Hague, William M. Hague, Matthias Haimel, Matthew Hall, Helen L. Hanson, Eshika Haque, Kirsty Harkness, Andrew R. Harper, Claire L. Harris, Daniel Hart, Ahamad Hassan, Grant Hayman, Alex Henderson, Archana Herwadkar, Jonathan Hoffman, Rita Horvath, Henry Houlden, Arjan C. Houweling, Fengyuan Hu, Gavin Hudson, Aarnoud P. Huissoon, Matthew Hurles, Melita Irving, Louise Izatt, Roger James, Sally A. Johnson, Stephen Jolles, Jennifer Jolley, Dragana Josifova, Neringa Jurkute, Mary A. Kasanicki, Hanadi Kazkaz, Rashid Kazmi, Peter Kelleher, Anne M Kelly, Wilf Kelsall, Carly Kempster, Nathalie Kingston, Nils Koelling, Myrto Kostadima, Ania Koziell, Roman Kreuzhuber, Taco W. Kuijpers, Ajith Kumar, Dinakantha Kumararatne, Manju A. Kurian, Michael A. Laffan, Fiona Lalloo, Michele Lambert, Hana Lango Allen, D. Mark Layton, Claire Lentaigne, Tracy Lester, Adam P. Levine, Rachel Linger, Hilary Longhurst, Lorena E. Lorenzo, Eleni Louka, Paul A. Lyons, Bella Madan, Eamonn R. Maher, Jesmeen Maimaris, Samantha Malka, Sarah Mangles, Rutendo Mapeta, Kevin J. Marchbank, Stephen Marks, Hugh S. Markus, Hanns-Ulrich Marschall, Andrew Marshall, Mary Mathias, Emma Matthews, Heather Maxwell, Paul McAlinden, Mark I. McCarthy, Harriet McKinney, Stuart Meacham, Adam J. Mead, Sarju G. Mehta, Michel Michaelides, Carolyn Millar, Shehla N. Mohammed, Anthony T. Moore, Monika Mozere, Keith W. Muir, Andrew D. Mumford, Andrea H. Nemeth, William G. Newman, Michael Newnham, Sadia Noorani, Paquita Nurden, Jennifer O’Sullivan, Samya Obaji, Chris Odhams, Steven Okoli, Andrea Olschewski, Kai Ren Ong, S. Helen Oram, Elizabeth Ormondroyd, Willem H. Ouwehand, Claire Palles, Sofia Papadia, Soo-Mi Park, David Parry, Smita Patel, Joan Paterson, Andrew Peacock, Simon H. Pearce, Kathelijne Peerlinck, Romina Petersen, Clarissa Pilkington, Kenneth E.S. Poole, Bethan Psaila, Angela Pyle, Richard Quinton, Shamima Rahman, Anupama Rao, F. Lucy Raymond, Paula J. Rayner-Matthews, Augusto Rendon, Tara Renton, Andrew S.C. Rice, Alex Richter, Leema Robert, Irene Roberts, Sarah J. Rose, Robert Ross-Russell, Catherine Roughley, Noemi B.A. Roy, Deborah M. Ruddy, Omid Sadeghi-Alavijeh, Moin A. Saleem, Nilesh Samani, Crina Samarghitean, Alba Sanchis-Juan, Ravishankar B. Sargur, Robert N. Sarkany, Simon Satchell, Sinisa Savic, Genevieve Sayer, John A. Sayer, Laura Scelsi, Andrew M. Schaefer, Sol Schulman, Richard Scott, Marie Scully, Claire Searle, Arjune Sen, W.A. Carrock Sewell, Denis Seyres, Neil Shah, Olga Shamardina, Susan E. Shapiro, Adam C. Shaw, Keith Sibson, Lucy Side, Ilenia Simeoni, Michael A. Simpson, Matthew C. Sims, Suthesh Sivapalaratnam, Damian Smedley, Katherine R. Smith, Kenneth G.C. Smith, Katie Snape, Nicole Soranzo, Olivera Spasic-Boskovic, Simon Staines, Emily Staples, Hannah Stark, Kathleen E. Stirrups, Alex Stuckey, Petros Syrris, R. Campbell Tait, Kate Talks, Rhea Y.Y. Tan, Jenny C. Taylor, John M. Taylor, James E. Thaventhiran, Andreas C. Themistocleous, David Thomas, Ellen Thomas, Moira J. Thomas, Patrick Thomas, Kate Thomson, Adrian J. Thrasher, Chantal Thys, Marc Tischkowitz, Catherine Titterton, Cheng-Hock Toh, Ian P. Tomlinson, Matthew Traylor, Paul Treadaway, Salih Tuna, Ernest Turro, Philip Twiss, Tom Vale, Chris Van Geet, Natalie van Zuydam, Anthony M Vandersteen, Marta Vazquez-Lopez, Julie von Ziegenweidt, Annette Wagner, Quinten Waisfisz, Neil Walker, Suellen M. Walker, James S. Ware, Hugh Watkins, Christopher Watt, Andrew R. Webster, Lucy Wedderburn, Wei Wei, Steven B. Welch, Julie Wessels, Sarah K. Westbury, John-Paul Westwood, Deborah Whitehorn, James Whitworth, Andrew O.M. Wilkie, Catherine Williamson, Brian T. Wilson, Edwin K.S. Wong, Nicholas Wood, Yvette Wood, Christopher Geoffrey Woods, Emma R. Woodward, Austen Worth, Michael Wright, Katherine Yates, Patrick F.K. Yong, Timothy Young, Ping Yu, Patrick Yu-Wai-Man, Eliska Zlamalova, Russel Hirsch, R. James White, Marc Simon, David Badesch, Erika Rosenzweig, Charles Burger, Murali Chakinala, Thenappan Thenappan, Greg Elliott, Robert Simms, Harrison Farber, Robert Frantz, Jean Elwing, Nicholas Hill, Dunbar Ivy, James Klinger, Steven Nathan, Ronald Oudiz, Ivan Robbins, Robert Schilz, Terry Fortin, Jeffrey Wilt, Delphine Yung, Eric Austin, Ferhaan Ahmad, Nitin Bhatt, Tim Lahm, Adaani Frost, Zeenat Safdar, Zia Rehman, Robert Walter, Fernando Torres, Sahil Bakshi, Stephen Archer, Rahul Argula, Christopher Barnett, Raymond Benza, Ankit Desai, Veeranna Maddipati
المساهمون: University of Cambridge [UK] (CAM), Columbia University [New York], University of Sheffield [Sheffield], University of Cincinnati (UC), St George's, University of London, Vrije Universiteit Amsterdam [Amsterdam] (VU), Golden Jubilee National Hospital, Glasgow, Royal Free Hospital [London, UK], Heidelberg University Hospital [Heidelberg], Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Institute of cardiometabolism and nutrition (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Technische Hochschule Mittelhessen - University of Applied Sciences [Giessen] (THM), Fondazione IRCCS Policlinico San Matteo, Hypertension pulmonaire : physiopathologie et innovation thérapeutique (HPPIT), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay, Universität Heidelberg [Heidelberg], Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust, Imperial College London, Royal Hallamshire Hospital, University of Graz, Freeman Hospital, Royal United Hospitals Bath (RUH), Great Ormond Street Hospital for Children [London] (GOSH), Royal Papworth Hospital, Cambridge Biomedical Campus, Cambridge, United Kingdom., King‘s College London, Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Karl-Franzens-Universität [Graz, Autriche], Pulmonary medicine, ACS - Pulmonary hypertension & thrombosis, Swietlik, Emilia [0000-0002-4095-8489], Megy, Karyn [0000-0002-2826-3879], Tilly, Tobias [0000-0002-6762-5342], Stephens, Jonathan [0000-0003-2020-9330], Toshner, Mark [0000-0002-3969-6143], Morrell, Nicholas [0000-0001-5700-9792], Graf, Stefan [0000-0002-1315-8873], Apollo - University of Cambridge Repository, Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Research Unit on Cardiovascular and Metabolic Diseases (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Institut de Cardiométabolisme et Nutrition = Institute of Cardiometabolism and Nutrition [CHU Pitié Salpêtrière] (IHU ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Karl-Franzens-Universität Graz, HAL-SU, Gestionnaire, British Heart Foundation, The Academy of Medical Sciences
المصدر: Circulation: Genomic and Precision Medicine
Circulation: Genomic and Precision Medicine, American Heart Association, 2020, ⟨10.1161/CIRCGEN.120.003155⟩
Circulation. Genomic and Precision Medicine
Circulation. Genomic and precision medicine, 14(1):e003155. Lippincott Williams and Wilkins Ltd.
morrell 2021, ' Bayesian Inference Associates Rare KDR Variants with Specific Phenotypes in Pulmonary Arterial Hypertension ', Circulation. Genomic and precision medicine, vol. 14, no. 1, e003155 . https://doi.org/10.1161/CIRCGEN.120.003155
Circulation: Genomic and Precision Medicine, 2020, ⟨10.1161/CIRCGEN.120.003155⟩مصطلحات موضوعية: 0301 basic medicine, Candidate gene, Cardiac & Cardiovascular Systems, genetic association studies, 030204 cardiovascular system & hematology, Biology, Bayesian inference, 03 medical and health sciences, 0302 clinical medicine, Missing heritability problem, pulmonary hypertension, medicine, Family history, Gene, Genetics & Heredity, Genetics, family history, Science & Technology, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, Kinase insert domain receptor, computed tomography, General Medicine, Original Articles, medicine.disease, Pulmonary hypertension, Phenotype, 3. Good health, 030104 developmental biology, Cardiovascular System & Cardiology, ComputingMethodologies_DOCUMENTANDTEXTPROCESSING, Life Sciences & Biomedicine, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, vascular endothelial growth factor receptor
وصف الملف: application/pdf; application/vnd.openxmlformats-officedocument.wordprocessingml.document
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::524b66714d301fd180ea8d1d09ee8e86
https://hal.sorbonne-universite.fr/hal-03104099 -
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المؤلفون: Finlay A. Macrae, Toni T. Seppälä, Gillian M. Borthwick, Anne-Marie Gerdes, D. Gareth Evans, Fiona E McRonald, Lynn Reed, Huw Thomas, Julian R. Sampson, Jackie Cook, Shirley Hodgson, Mary Porteous, Jukka-Pekka Mecklin, Lucy Side, Anthony Ellis, John Burn, Carole Brewer, Lucio Bertario, Kirsi Pylvänäinen, D. Timothy Bishop, Diana Eccles, Alex Boussioutas, Faye Elliott, Rodney J. Scott, Jem Rashbass, Patrick J. Morrison, Harsh Sheth, Gabriela Möslein, Raj Ramesar, John C. Mathers, Jan Lubinski, Annika Lindblom, Judy W. C. Ho, Eamonn R. Maher
المساهمون: HUS Abdominal Center, Clinicum, II kirurgian klinikka, Helsinki University Hospital Area
المصدر: Burn, J, Sheth, H, Elliott, F, Reed, L, Macrae, F, Mecklin, J P, Möslein, G, McRonald, F E, Bertario, L, Evans, D G, Gerdes, A M, Ho, J W C, Lindblom, A, Morrison, P J, Rashbass, J, Ramesar, R, Seppälä, T, Thomas, H J W, Pylvänäinen, K, Borthwick, G M, Mathers, J C, Bishop, D T, Boussioutas, A, Brewer, C, Cook, J, Eccles, D, Ellis, A, Hodgson, S V, Lubinski, J, Maher, E R, Porteous, M EM, Sampson, J, Scott, R J, Side, L & CAPP2 Investigators 2020, ' Cancer prevention with aspirin in hereditary colorectal cancer (Lynch syndrome), 10-year follow-up and registry-based 20-year data in the CAPP2 study : a double-blind, randomised, placebo-controlled trial ', The Lancet, vol. 395, no. 10240, pp. 1855-1863 . https://doi.org/10.1016/S0140-6736(20)30366-4
Evans, D G & et al. 2020, ' Cancer prevention with aspirin in hereditary colorectal cancer (Lynch syndrome), 10-year follow-up and registry-based 20-year data in the CAPP2 study : a double-blind, randomised, placebo-controlled trial ', Lancet, vol. 395, no. 10240, pp. 1855-1863 . https://doi.org/10.1016/S0140-6736(20)30366-4مصطلحات موضوعية: RESISTANT STARCH, Placebo-controlled study, 030204 cardiovascular system & hematology, 0302 clinical medicine, Life Tables, 030212 general & internal medicine, 11 Medical and Health Sciences, media_common, RISK, Aspirin, education.field_of_study, Anti-Inflammatory Agents, Non-Steroidal, LOW-DOSE ASPIRIN, General Medicine, Lynch syndrome, 3. Good health, Intention to Treat Analysis, Anti-Inflammatory Agents, Non-Steroidal/adverse effects, medicine.drug, CHEMOPREVENTION, medicine.medical_specialty, Heterozygote, 3122 Cancers, Population, NEOPLASIA, Aspirin/adverse effects, Placebo, CAPP2 Investigators, Medication Adherence, 03 medical and health sciences, Double-Blind Method, Internal medicine, General & Internal Medicine, Colorectal Neoplasms, Hereditary Nonpolyposis/genetics, BENEFITS, medicine, media_common.cataloged_instance, Humans, European union, education, Proportional Hazards Models, Intention-to-treat analysis, Cancer prevention, business.industry, MORTALITY, 3126 Surgery, anesthesiology, intensive care, radiology, medicine.disease, Colorectal Neoplasms, Hereditary Nonpolyposis, business, Follow-Up Studies
وصف الملف: application/pdf; text
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b883398de7c0cc7e549ca68d176f77a1
https://curis.ku.dk/portal/da/publications/cancer-prevention-with-aspirin-in-hereditary-colorectal-cancer-lynch-syndrome-10year-followup-and-registrybased-20year-data-in-the-capp2-study(731041a4-aa9f-42c7-b9db-83326e8b4a6d).html -
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المؤلفون: Lidia Larizza, Giovanni Battista Ferrero, Raoul C.M. Hennekam, Silvia Russo, Angelo Selicorni, Leslie G. Biesecker, Jennifer M. Kalish, Frédéric Brioude, Peter N. Robinson, Matthew A. Deardorff, Alessandra Di Cesare-Merlone, Alessandro Mussa, Pablo Lapunzina, Todd E. Druley, Marina Macchiaiolo, Saskia M. Maas, Eamonn R. Maher, Silvia Maitz, Julian A. Martinez-Agosto
المساهمون: Maher, Eamonn [0000-0002-6226-6918], Apollo - University of Cambridge Repository, ANS - Complex Trait Genetics, Human Genetics, APH - Quality of Care, Paediatric Genetics
المصدر: American journal of medical genetics. Part A, 173(7), 1735-1738. Wiley-Liss Inc.
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madridمصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Pathology, Beckwith–Wiedemann syndrome, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, isolated lateralized overgrowth, Genetics, medicine, Nomenclature, Hemihypertrophy, Genetics (clinical), lateralized overgrowth, Genetic heterogeneity, business.industry, isolated unilateral overgrowth, isolated hemihypertrophy, isolated hemihyperplasia, segmental overgrowth, respiratory system, medicine.disease, respiratory tract diseases, Beckwith-Wiedemann syndrome, Isolated hemihyperplasia, Isolated hemihypertrophy, Isolated lateralized overgrowth, Isolated unilateral overgrowth, Lateralized overgrowth, Segmental overgrowth, 030104 developmental biology, Endocrinology, Dysplasia, Etiology, business, 030217 neurology & neurosurgery
وصف الملف: application/pdf
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المؤلفون: Luciano Calzari, Sara Guzzetti, Silvia Russo, Daniela Melis, Frédéric Brioude, Deborah J G Mackay, Jet Bliek, Maria Paola Lombardi, Karen Temple, Angelo Selicorni, Claudia Izzi, Eamonn R. Maher, Irène Netchine, Thomas Eggermann
المساهمون: Human Genetics, ACS - Pulmonary hypertension & thrombosis, Amsterdam Reproduction & Development (AR&D), University of Southampton, University of Amsterdam [Amsterdam] (UvA), Istituti di Ricovero e Cura a Carattere Scientifico (IRCCS), Civic Hospital of Brescia, Università degli studi di Napoli Federico II, University of Cambridge [UK] (CAM), NIHR Biomedical Research Centre [London], Guy's and St Thomas' NHS Foundation Trust-King‘s College London, Sorbonne Université (SU), Centre de Recherche Saint-Antoine (CR Saint-Antoine), Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Rheinisch-Westfälische Technische Hochschule Aachen (RWTH)
المصدر: Genetical research, 101. Cambridge University Press
Genetics Research
Genetics Research, Cambridge University Press (CUP), 2019, 101 (e3), pp.1-5. ⟨10.1017/S001667231900003X⟩
Genetics research 101, e3 (2019). doi:10.1017/S001667231900003Xمصطلحات موضوعية: Beckwith-Wiedemann Syndrome, Beckwith–Wiedemann syndrome, Bioinformatics, Chromosomes, 03 medical and health sciences, parasitic diseases, Genetics, medicine, Short Paper, Humans, Genetic Predisposition to Disease, Genetic Testing, Imprinting (psychology), Medical diagnosis, Pair 11, 030304 developmental biology, Genetic testing, Beckwith wiedemann, 0303 health sciences, molecular testing, medicine.diagnostic_test, business.industry, Chromosomes, Human, Pair 11, Silver–Russell syndrome, 030305 genetics & heredity, General Medicine, DNA Methylation, medicine.disease, unexpected results, 3. Good health, Beckwith-Wiedemann syndrome, Silver-Russell syndrome, Phenotype, Silver-Russell Syndrome, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, DNA methylation, Anxiety, medicine.symptom, business, Human
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المؤلفون: Helen Griffin, Dawn Barge, Louise J. Tee, Mario Abinun, Sophie Hambleton, Mauro Santibanez Koref, Simi Ali, Neil V. Morgan, Andrew J. Cant, Michael Jackson, Peter D. Arkwright, Eamonn R. Maher, Graeme O'Boyle, Tarana Singh Dang, Karin R. Engelhardt, Joseph D. P. Willet, Stephen M. Hughes, Louise N. Reynard
المساهمون: Maher, Eamonn [0000-0002-6226-6918], Apollo - University of Cambridge Repository
المصدر: Journal of Clinical Immunology
Dang, T S, Willet, J D P, Griffin, H R, Morgan, N V, O'Boyle, G, Arkwright, P, Hughes, S, Abinun, M, Tee, L J, Barge, D, Engelhardt, K R, Jackson, M, Cant, A J, Maher, E R, Koref, M S, Reynard, L N, Ali, S & Hambleton, S 2016, ' Defective Leukocyte Adhesion and Chemotaxis Contributes to Combined Immunodeficiency in Humans with Autosomal Recessive MST1 Deficiency ', Journal of clinical immunology, vol. 36, no. 2, pp. 117-122 . https://doi.org/10.1007/s10875-016-0232-2مصطلحات موضوعية: 0301 basic medicine, MST1, Immunology, Nonsense mutation, Intercellular Adhesion Molecule-1, Genes, Recessive, Context (language use), STK4, Protein Serine-Threonine Kinases, Biology, Immunophenotyping, 03 medical and health sciences, Journal Article, Cell Adhesion, medicine, Humans, Immunology and Allergy, Lymphocytes, chemotaxis, Cell adhesion, Immunodeficiency, lymphocyte adhesion, Siblings, Immunologic Deficiency Syndromes, Intracellular Signaling Peptides and Proteins, Chemotaxis, medicine.disease, Phenotype, Pedigree, Combined immunodeficiency, Chemotaxis, Leukocyte, 030104 developmental biology, Child, Preschool, Astute Clinician Report, Female, CD4 lymphopenia, sub_biomedicalsciences
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المؤلفون: Emma R. Woodward, Marc Tischkowitz, D. Gareth Evans, Eamonn R. Maher, Inga Plaskocinska, Elaine F. Harkness, Fiona Lalloo, Anthony Howell
المساهمون: Evans, D Gareth [0000-0002-8482-5784], Maher, Eamonn R [0000-0002-6226-6918], Apollo - University of Cambridge Repository
المصدر: Evans, D G, Woodward, E, Harkness, E, Howell, A, Plaskocinska, I, Maher, E R, Tischkowitz, M D & Lalloo, F 2018, ' Penetrance estimates for BRCA1, BRCA2 (also applied to Lynch syndrome) based on presymptomatic testing: a new unbiased method to assess risk? ', Journal of Medical Genetics, vol. 55, no. 7 . https://doi.org/10.1136/jmedgenet-2017-105223
مصطلحات موضوعية: 0301 basic medicine, Oncology, Male, pre-symptomatic, endocrine system diseases, Penetrance, 0302 clinical medicine, brca1, Breast cancer, brca2, Medicine, Presymptomatic Testing, Family history, skin and connective tissue diseases, Genetics (clinical), Ovarian Neoplasms, medicine.diagnostic_test, BRCA1 Protein, MLH1, Middle Aged, Lynch syndrome, MutS Homolog 2 Protein, 030220 oncology & carcinogenesis, Female, MutL Protein Homolog 1, Adult, medicine.medical_specialty, Breast Neoplasms, Risk Assessment, 03 medical and health sciences, Internal medicine, Genetics, Humans, Genetic Predisposition to Disease, Genetic Testing, neoplasms, Genetic testing, Aged, BRCA2 Protein, business.industry, Cancer, Bayes Theorem, medicine.disease, BRCA1, Colorectal Neoplasms, Hereditary Nonpolyposis, BRCA2, MSH2, 030104 developmental biology, Mutation, business
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URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cfe1baa033b420469977dca060f45660
https://www.research.manchester.ac.uk/portal/en/publications/penetrance-estimates-for-brca1-brca2-also-applied-to-lynch-syndrome-based-on-presymptomatic-testing-a-new-unbiased-method-to-assess-risk(72c358bc-77b1-44e1-ad9a-8acdfc01bb9f).html -
10Revisiting Wilms tumour surveillance in Beckwith-Wiedemann syndrome with IC2 methylation loss, reply
المؤلفون: Raoul C.M. Hennekam, Yves Le Bouc, Giovanni Battista Ferrero, Eamonn R. Maher, Irène Netchine, Deborah J G Mackay, Christian P. Kratz, Alessandro Mussa, Thomas Eggermann, Frédéric Brioude, Jet Bliek, Saskia M. Maas, Carole Coze
المساهمون: APH - Quality of Care, Paediatric Genetics, Human Genetics, Amsterdam Reproduction & Development (AR&D)
المصدر: European journal of human genetics, 26, 471-472. Nature Publishing Group
مصطلحات موضوعية: 0301 basic medicine, Beckwith-Wiedemann Syndrome, business.industry, Wilms tumour, Beckwith–Wiedemann syndrome, DNA Methylation, Genomic Imprinting, Humans, Methylation, Wilms Tumor, 030105 genetics & heredity, medicine.disease, 03 medical and health sciences, 030104 developmental biology, Correspondence, DNA methylation, Genetics, Cancer research, Medicine, business, Genomic imprinting, Genetics (clinical)
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