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المؤلفون: Kathleen M. Gorman, Esther Meyer, Detelina Grozeva, Egidio Spinelli, Amy McTague, Alba Sanchis-Juan, Keren J. Carss, Emily Bryant, Adi Reich, Amy L. Schneider, Ronit M. Pressler, Michael A. Simpson, Geoff D. Debelle, Evangeline Wassmer, Jenny Morton, Diana Sieciechowicz, Eric Jan-Kamsteeg, Alex R. Paciorkowski, Mary D. King, J. Helen Cross, Annapurna Poduri, Heather C. Mefford, Ingrid E. Scheffer, Tobias B. Haack, Gary McCullagh, John J. Millichap, Gemma L. Carvill, Jill Clayton-Smith, Eamonn R. Maher, F. Lucy Raymond, Manju A. Kurian, Jeremy F. McRae, Stephen Clayton, Tomas W. Fitzgerald, Joanna Kaplanis, Elena Prigmore, Diana Rajan, Alejandro Sifrim, Stuart Aitken, Nadia Akawi, Mohsan Alvi, Kirsty Ambridge, Daniel M. Barrett, Tanya Bayzetinova, Philip Jones, Wendy D. Jones, Daniel King, Netravathi Krishnappa, Laura E. Mason, Tarjinder Singh, Adrian R. Tivey, Munaza Ahmed, Uruj Anjum, Hayley Archer, Ruth Armstrong, Jana Awada, Meena Balasubramanian, Siddharth Banka, Diana Baralle, Angela Barnicoat, Paul Batstone, David Baty, Chris Bennett, Jonathan Berg, Birgitta Bernhard, A. Paul Bevan, Maria Bitner-Glindzicz, Edward Blair, Moira Blyth, David Bohanna, Louise Bourdon, David Bourn, Lisa Bradley, Angela Brady, Simon Brent, Carole Brewer, Kate Brunstrom, David J. Bunyan, John Burn, Natalie Canham, Bruce Castle, Kate Chandler, Elena Chatzimichali, Deirdre Cilliers, Angus Clarke, Susan Clasper, Virginia Clowes, Andrea Coates, Trevor Cole, Irina Colgiu, Amanda Collins, Morag N. Collinson, Fiona Connell, Nicola Cooper, Helen Cox, Lara Cresswell, Gareth Cross, Yanick Crow, Mariella D’Alessandro, Tabib Dabir, Rosemarie Davidson, Sally Davies, Dylan de Vries, John Dean, Charu Deshpande, Gemma Devlin, Abhijit Dixit, Angus Dobbie, Alan Donaldson, Dian Donnai, Deirdre Donnelly, Carina Donnelly, Angela Douglas, Sofia Douzgou, Alexis Duncan, Jacqueline Eason, Sian Ellard, Ian Ellis, Frances Elmslie, Karenza Evans, Sarah Everest, Tina Fendick, Richard Fisher, Frances Flinter, Nicola Foulds, Andrew Fry, Alan Fryer, Carol Gardiner, Lorraine Gaunt, Neeti Ghali, Richard Gibbons, Harinder Gill, Judith Goodship, David Goudie, Emma Gray, Andrew Green, Philip Greene, Lynn Greenhalgh, Susan Gribble, Rachel Harrison, Lucy Harrison, Victoria Harrison, Rose Hawkins, Liu He, Stephen Hellens, Alex Henderson, Sarah Hewitt, Lucy Hildyard, Emma Hobson, Simon Holden, Muriel Holder, Susan Holder, Georgina Hollingsworth, Tessa Homfray, Mervyn Humphreys, Jane Hurst, Ben Hutton, Stuart Ingram, Melita Irving, Lily Islam, Andrew Jackson, Joanna Jarvis, Lucy Jenkins, Diana Johnson, Elizabeth Jones, Dragana Josifova, Shelagh Joss, Beckie Kaemba, Sandra Kazembe, Rosemary Kelsell, Bronwyn Kerr, Helen Kingston, Usha Kini, Esther Kinning, Gail Kirby, Claire Kirk, Emma Kivuva, Alison Kraus, Dhavendra Kumar, V. K. Ajith Kumar, Katherine Lachlan, Wayne Lam, Anne Lampe, Caroline Langman, Melissa Lees, Derek Lim, Cheryl Longman, Gordon Lowther, Sally A. Lynch, Alex Magee, Eddy Maher, Alison Male, Sahar Mansour, Karen Marks, Katherine Martin, Una Maye, Emma McCann, Vivienne McConnell, Meriel McEntagart, Ruth McGowan, Kirsten McKay, Shane McKee, Dominic J. McMullan, Susan McNerlan, Catherine McWilliam, Sarju Mehta, Kay Metcalfe, Anna Middleton, Zosia Miedzybrodzka, Emma Miles, Shehla Mohammed, Tara Montgomery, David Moore, Sian Morgan, Hood Mugalaasi, Victoria Murday, Helen Murphy, Swati Naik, Andrea Nemeth, Louise Nevitt, Ruth Newbury-Ecob, Andrew Norman, Rosie O’Shea, Caroline Ogilvie, Kai-Ren Ong, Soo-Mi Park, Michael J. Parker, Chirag Patel, Joan Paterson, Stewart Payne, Daniel Perrett, Julie Phipps, Daniela T. Pilz, Martin Pollard, Caroline Pottinger, Joanna Poulton, Norman Pratt, Katrina Prescott, Sue Price, Abigail Pridham, Annie Procter, Hellen Purnell, Oliver Quarrell, Nicola Ragge, Raheleh Rahbari, Josh Randall, Julia Rankin, Lucy Raymond, Debbie Rice, Leema Robert, Eileen Roberts, Jonathan Roberts, Paul Roberts, Gillian Roberts, Alison Ross, Elisabeth Rosser, Anand Saggar, Shalaka Samant, Julian Sampson, Richard Sandford, Ajoy Sarkar, Susann Schweiger, Richard Scott, Ingrid Scurr, Ann Selby, Anneke Seller, Cheryl Sequeira, Nora Shannon, Saba Sharif, Charles Shaw-Smith, Emma Shearing, Debbie Shears, Eamonn Sheridan, Ingrid Simonic, Roldan Singzon, Zara Skitt, Audrey Smith, Kath Smith, Sarah Smithson, Linda Sneddon, Miranda Splitt, Miranda Squires, Fiona Stewart, Helen Stewart, Volker Straub, Mohnish Suri, Vivienne Sutton, Ganesh Jawahar Swaminathan, Elizabeth Sweeney, Kate Tatton-Brown, Cat Taylor, Rohan Taylor, Mark Tein, I. Karen Temple, Jenny Thomson, Marc Tischkowitz, Susan Tomkins, Audrey Torokwa, Becky Treacy, Claire Turner, Peter Turnpenny, Carolyn Tysoe, Anthony Vandersteen, Vinod Varghese, Pradeep Vasudevan, Parthiban Vijayarangakannan, Julie Vogt, Emma Wakeling, Sarah Wallwark, Jonathon Waters, Astrid Weber, Diana Wellesley, Margo Whiteford, Sara Widaa, Sarah Wilcox, Emily Wilkinson, Denise Williams, Nicola Williams, Louise Wilson, Geoff Woods, Christopher Wragg, Michael Wright, Laura Yates, Michael Yau, Chris Nellåker, Michael Parker, Helen V. Firth, Caroline F. Wright, David R. FitzPatrick, Jeffrey C. Barrett, Matthew E. Hurles, Saeed Al Turki, Carl Anderson, Richard Anney, Dinu Antony, Maria Soler Artigas, Muhammad Ayub, Senduran Balasubramaniam, Inês Barroso, Phil Beales, Jamie Bentham, Shoumo Bhattacharya, Ewan Birney, Douglas Blackwood, Martin Bobrow, Elena Bochukova, Patrick Bolton, Rebecca Bounds, Chris Boustred, Gerome Breen, Mattia Calissano, Keren Carss, Krishna Chatterjee, Lu Chen, Antonio Ciampi, Sebhattin Cirak, Peter Clapham, Gail Clement, Guy Coates, David Collier, Catherine Cosgrove, Tony Cox, Nick Craddock, Lucy Crooks, Sarah Curran, David Curtis, Allan Daly, Aaron Day-Williams, Ian N.M. Day, Thomas Down, Yuanping Du, Ian Dunham, Sarah Edkins, Peter Ellis, David Evans, Sadaf Faroogi, Ghazaleh Fatemifar, David R. Fitzpatrick, Paul Flicek, James Flyod, A. Reghan Foley, Christopher S. Franklin, Marta Futema, Louise Gallagher, Matthias Geihs, Daniel Geschwind, Heather Griffin, Xueqin Guo, Xiaosen Guo, Hugh Gurling, Deborah Hart, Audrey Hendricks, Peter Holmans, Bryan Howie, Liren Huang, Tim Hubbard, Steve E. Humphries, Pirro Hysi, David K. Jackson, Yalda Jamshidi, Tian Jing, Chris Joyce, Jane Kaye, Thomas Keane, Julia Keogh, John Kemp, Karen Kennedy, Anja Kolb-Kokocinski, Genevieve Lachance, Cordelia Langford, Daniel Lawson, Irene Lee, Monkol Lek, Jieqin Liang, Hong Lin, Rui Li, Yingrui Li, Ryan Liu, Jouko Lönnqvist, Margarida Lopes, Valentina Iotchkova, Daniel MacArthur, Jonathan Marchini, John Maslen, Mangino Massimo, Iain Mathieson, Gaëlle Marenne, Peter McGuffin, Andrew McIntosh, Andrew G. McKechanie, Andrew McQuillin, Sarah Metrustry, Hannah Mitchison, Alireza Moayyeri, James Morris, Francesco Muntoni, Kate Northstone, Michael O'Donnovan, Alexandros Onoufriadis, Stephen O'Rahilly, Karim Oualkacha, Michael J. Owen, Aarno Palotie, Kalliope Panoutsopoulou, Victoria Parker, Jeremy R. Parr, Lavinia Paternoster, Tiina Paunio, Felicity Payne, Olli Pietilainen, Vincent Plagnol, Lydia Quaye, Michael A. Quail, Karola Rehnström, Susan Ring, Graham R.S. Ritchie, Nicola Roberts, David B. Savage, Peter Scambler, Stephen Schiffels, Miriam Schmidts, Nadia Schoenmakers, Robert K. Semple, Eva Serra, Sally I. Sharp, So-Youn Shin, David Skuse, Kerrin Small, Lorraine Southam, Olivera Spasic-Boskovic, David St Clair, Jim Stalker, Elizabeth Stevens, Beate St Pourcian, Jianping Sun, Jaana Suvisaari, Ionna Tachmazidou, Martin D. Tobin, Ana Valdes, Margriet Van Kogelenberg, Peter M. Visscher, Louise V. Wain, James T.R. Walters, Guangbiao Wang, Jun Wang, Yu Wang, Kirsten Ward, Elanor Wheeler, Tamieka Whyte, Hywel Williams, Kathleen A. Williamson, Crispian Wilson, Kim Wong, ChangJiang Xu, Jian Yang, Fend Zhang, Pingbo Zhang, Timothy Aitman, Hana Alachkar, Sonia Ali, Louise Allen, David Allsup, Gautum Ambegaonkar, Julie Anderson, Richard Antrobus, Gavin Arno, Gururaj Arumugakani, Sofie Ashford, William Astle, Antony Attwood, Steve Austin, Chiara Bacchelli, Tamam Bakchoul, Tadbir K. Bariana, Helen Baxendale, David Bennett, Claire Bethune, Shahnaz Bibi, Marta Bleda, Harm Boggard, Paula Bolton-Maggs, Claire Booth, John R. Bradley, Angie Brady, Matthew Brown, Michael Browning, Christine Bryson, Siobhan Burns, Paul Calleja, Jenny Carmichael, Mark Caulfield, Elizabeth Chalmers, Anita Chandra, Patrick Chinnery, Manali Chitre, Colin Church, Emma Clement, Naomi Clements-Brod, Gerry Coghlan, Peter Collins, Nichola Cooper, Amanda Creaser-Myers, Rosa DaCosta, Louise Daugherty, Sophie Davies, John Davis, Minka De Vries, Patrick Deegan, Sri V.V. Deevi, Lisa Devlin, Eleanor Dewhurst, Rainer Doffinger, Natalie Dormand, Elizabeth Drewe, David Edgar, William Egner, Wendy N. Erber, Marie Erwood, Tamara Everington, Remi Favier, Helen Firth, Debra Fletcher, James C. Fox, Amy Frary, Kathleen Freson, Bruce Furie, Abigail Furnell, Daniel Gale, Alice Gardham, Michael Gattens, Pavandeep K. Ghataorhe, Rohit Ghurye, Simon Gibbs, Kimberley Gilmour, Paul Gissen, Sarah Goddard, Keith Gomez, Pavel Gordins, Stefan Gräf, Daniel Greene, Alan Greenhalgh, Andreas Greinacher, Sofia Grigoriadou, Scott Hackett, Charaka Hadinnapola, Rosie Hague, Matthias Haimel, Csaba Halmagyi, Tracey Hammerton, Daniel Hart, Grant Hayman, Johan W.M. Heemskerk, Robert Henderson, Anke Hensiek, Yvonne Henskens, Archana Herwadkar, Fengyuan Hu, Aarnoud Huissoon, Marc Humbert, Roger James, Stephen Jolles, Rashid Kazmi, David Keeling, Peter Kelleher, Anne M. Kelly, Fiona Kennedy, David Kiely, Nathalie Kingston, Ania Koziell, Deepa Krishnakumar, Taco W. Kuijpers, Dinakantha Kumararatne, Manju Kurian, Michael A. Laffan, Michele P. Lambert, Hana Lango Allen, Allan Lawrie, Sara Lear, Claire Lentaigne, Ri Liesner, Rachel Linger, Hilary Longhurst, Lorena Lorenzo, Rajiv Machado, Rob Mackenzie, Robert MacLaren, Eamonn Maher, Jesmeen Maimaris, Sarah Mangles, Ania Manson, Rutendo Mapeta, Hugh S. Markus, Jennifer Martin, Larahmie Masati, Mary Mathias, Vera Matser, Anna Maw, Elizabeth McDermott, Coleen McJannet, Stuart Meacham, Sharon Meehan, Karyn Megy, Michel Michaelides, Carolyn M. Millar, Shahin Moledina, Anthony Moore, Nicholas Morrell, Andrew Mumford, Sai Murng, Elaine Murphy, Sergey Nejentsev, Sadia Noorani, Paquita Nurden, Eric Oksenhendler, Willem H. Ouwehand, Sofia Papadia, Alasdair Parker, John Pasi, Chris Patch, Jeanette Payne, Andrew Peacock, Kathelijne Peerlinck, Christopher J. Penkett, Joanna Pepke-Zaba, David J. Perry, Val Pollock, Gary Polwarth, Mark Ponsford, Waseem Qasim, Isabella Quinti, Stuart Rankin, Karola Rehnstrom, Evan Reid, Christopher J. Rhodes, Michael Richards, Sylvia Richardson, Alex Richter, Irene Roberts, Matthew Rondina, Catherine Roughley, Kevin Rue-Albrecht, Crina Samarghitean, Saikat Santra, Ravishankar Sargur, Sinisa Savic, Sol Schulman, Harald Schulze, Marie Scully, Suranjith Seneviratne, Carrock Sewell, Olga Shamardina, Debbie Shipley, Ilenia Simeoni, Suthesh Sivapalaratnam, Kenneth Smith, Aman Sohal, Laura Southgate, Simon Staines, Emily Staples, Hans Stauss, Penelope Stein, Jonathan Stephens, Kathleen Stirrups, Sophie Stock, Jay Suntharalingam, R. Campbell Tait, Kate Talks, Yvonne Tan, Jecko Thachil, James Thaventhiran, Ellen Thomas, Moira Thomas, Dorothy Thompson, Adrian Thrasher, Catherine Titterton, Cheng-Hock Toh, Mark Toshner, Carmen Treacy, Richard Trembath, Salih Tuna, Wojciech Turek, Ernest Turro, Chris Van Geet, Marijke Veltman, Julie von Ziegenweldt, Anton Vonk Noordegraaf, Ivy Wanjiku, Timothy Q. Warner, Hugh Watkins, Andrew Webster, Steve Welch, Sarah Westbury, John Wharton, Deborah Whitehorn, Martin Wilkins, Lisa Willcocks, Catherine Williamson, Geoffrey Woods, John Wort, Nigel Yeatman, Patrick Yong, Tim Young, Ping Yu
المساهمون: Paediatric Infectious Diseases / Rheumatology / Immunology, ARD - Amsterdam Reproduction and Development, Pediatric surgery, APH - Aging & Later Life, Molecular cell biology and Immunology, Pulmonary medicine, ACS - Pulmonary hypertension & thrombosis, APH - Quality of Care
المصدر: Gorman, K M, Meyer, E, Grozeva, D, Spinelli, E, McTague, A, Sanchis-Juan, A, Carss, K J, Bryant, E, Reich, A, Schneider, A L, Pressler, R M, Simpson, M A, Debelle, G D, Wassmer, E, Morton, J, Sieciechowicz, D, Jan-Kamsteeg, E, Paciorkowski, A R, King, M D, Cross, J H, Poduri, A, Mefford, H C, Scheffer, I E, Haack, T B, McCullagh, G, Deciphering Developmental Disorders Study, NIHR BioResource, UK10K Consortium, Millichap, J J, Carvill, G L, Clayton-Smith, J, Maher, E R, Raymond, F L & Kurian, M A 2019, ' Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia ', American journal of human genetics, vol. 104, no. 5, pp. 948-956 . https://doi.org/10.1016/j.ajhg.2019.03.005
American journal of human genetics, 104(5), 948-956. Cell Pressمصطلحات موضوعية: 0301 basic medicine, Male, Adolescent, Loss of Heterozygosity, Context (language use), Postnatal microcephaly, Neurotransmission, medicine.disease_cause, Bioinformatics, Synaptic Transmission, Loss of heterozygosity, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Calcium Channels, N-Type, Report, Genetics, medicine, Humans, Child, Genetics (clinical), Mutation, Dyskinesias, business.industry, Infant, medicine.disease, Hypotonia, Pedigree, 030104 developmental biology, Dyskinesia, Child, Preschool, Calcium, Female, medicine.symptom, business, 030217 neurology & neurosurgery
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c6f62e4ecd23096c1d8075fa84911841
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المؤلفون: Ruth Casey, Ben Challis, Eamonn R. Maher, Madhu Basetti, Ferdia Gallagher, Mary A. McLean
المصدر: Endocrine Abstracts.
مصطلحات موضوعية: Metabolomics, biology, Biochemistry, In vivo, Chemistry, Succinate dehydrogenase, medicine, biology.protein, Carcinogenesis, medicine.disease_cause, Ex vivo
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::c30486485658a14168cb06311d2b6703
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المؤلفون: Sarah M. Nielsen, Lindsay Rhodes, Ignacio Blanco, Rachel H. Giles, Charis Eng, Stéphane Richard, Wendy K Chung, Eamonn R. Maher
المساهمون: Maher, Eamonn [0000-0002-6226-6918], Apollo - University of Cambridge Repository
المصدر: Journal of Clinical Oncology, 34(18), 2172. American Society of Clinical Oncology
مصطلحات موضوعية: 0301 basic medicine, Cancer Research, Pathology, medicine.medical_specialty, von Hippel-Lindau Disease, endocrine system diseases, Genetic counseling, Review, Disease, genotype-phenotype correlation, urologic and male genital diseases, Germline, Pheochromocytoma, 03 medical and health sciences, 0302 clinical medicine, Renal cell carcinoma, VHL, Journal Article, medicine, Humans, genetics, multiple neoplasia syndromes, Genetic Testing, Von Hippel–Lindau disease, Family history, neoplasms, Genetic testing, Genetics, genetic counseling, medicine.diagnostic_test, business.industry, medicine.disease, female genital diseases and pregnancy complications, 030104 developmental biology, Oncology, Von Hippel-Lindau Tumor Suppressor Protein, 030220 oncology & carcinogenesis, Mutation, business
وصف الملف: application/pdf; image/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38742d07aa6ad53c35536f1cff3a6041
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المؤلفون: Kenneth Paigen, John Wright, Rosie McEachan, Eamonn Sheridan, Dan Mason, Yali Xue, Laura Southgate, Richard C. Trembath, Konrad J. Karczewski, Anne H. O’Donnell-Luria, Monkol Lek, Kristina Giorda, David A. van Heel, Srikanth Bellary, Chris Tyler-Smith, Mark G. Thomas, Louise Tee, Vagheesh M. Narasimhan, Michael Schnall-Levin, Shane A. McCarthy, Eamonn R. Maher, Jia Zhilong, Hajrah A. Khawaja, Harry Hemingway, Christopher M. Bates, Christopher L. Baker, Ann M. Kelly, Petko M. Petkov, Daniel G. MacArthur, Nicholas A. Bockett, Constantinos A. Parisinos, Anthony H. Barnett, Karen A. Hunt, Richard Durbin, Chris Griffiths, Michael R. Barnes
المصدر: Science. 352:474-477
مصطلحات موضوعية: 0301 basic medicine, Genetics, education.field_of_study, Multidisciplinary, Population, Biology, Genome, 3. Good health, 03 medical and health sciences, 030104 developmental biology, Gene Knockout Techniques, education, Gene, Exome, Gene knockout, PRDM9, Exome sequencing
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::329edb47570eee0a17f6ad1922551549
https://doi.org/10.1126/science.aac8624 -
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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
وصف الملف: application/msword; application/pdf
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 -
117Revisiting 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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المؤلفون: Christian P. Kratz, Le Bouc Y, Ibrahim A, Jennifer M. Kalish, Tatton-Brown, Frédéric Brioude, Sylvie Rossignol, Jair Tenorio, Kilby, Giovanni Battista Ferrero, Irène Netchine, De Pellegrin M, Raoul C.M. Hennekam, Silvia Russo, Fiona Macdonald, Trevor Cole, Eamonn R. Maher, Mackay Djg, Karen Grønskov, Edmund J. Ladusans, Khalid Hussain, Licia Peruzzi, Saskia M. Maas, Andrea Riccio, Susanne E Boonen, Monica Bertoletti, Pablo Lapunzina, Zeynep Tümer, oze C, Jet Bliek, Alison Foster, Chiara Tortora, Thomas Eggermann, Guido Cocchi, Caroleen Shipster, Małgorzata Krajewska-Walasek, Dirk Prawitt, Robert Baker, Katrin Õunap, Alessandro Mussa, Agata Skórka
المساهمون: Human Genetics, Paediatric Genetics, APH - Quality of Care, ARD - Amsterdam Reproduction and Development, Maher, Eamonn [0000-0002-6226-6918], Apollo - University of Cambridge Repository
المصدر: Nature reviews. Endocrinology, 14, 229-249. Nature Publishing Group
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Nature reviews. Endocrinology
(2018). doi:10.1038/nrendo.2017.166
info:cnr-pdr/source/autori:Brioude, Frederic; Kalish, Jennifer M; Mussa, Alessandro; Foster, Alison C; Bliek, Jet; Ferrero, Giovanni Battista; Boonen, Susanne E; Cole, Trevor; Baker, Robert; Bertoletti, Monica; Cocchi, Guido; Coze, Carole; De Pellegrin, Maurizio; Hussain, Khalid; Ibrahim, Abdulla; Kilby, Mark D; Krajewska-Walasek, Malgorzata; Kratz, Christian P; Ladusans, Edmund J; Lapunzina, Pablo; Le Bouc, Yves; Maas, Saskia M; Macdonald, Fiona; Ounap, Katrin; Peruzzi, Licia; Rossignol, Sylvie; Russo, Silvia; Shipster, Caroleen; Skorka, Agata; Tatton-Brown, Katrina; Tenorio, Jair; Tortora, Chiara; Gronskov, Karen; Netchine, Irene; Hennekam, Raoul C; Prawitt, Dirk; Tumer, Zeynep; Eggermann, Thomas; Mackay, Deborah J G; Riccio, Andrea; Maher, Eamonn R/titolo:Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement./doi:10.1038%2Fnrendo.2017.166/rivista:Nature reviews. Endocrinology (Print)/anno:2018/pagina_da:/pagina_a:/intervallo_pagine:/volumeمصطلحات موضوعية: medicine.medical_specialty, Beckwith-Wiedemann Syndrome, Consensus, DNA Copy Number Variations, Reproductive Techniques, Assisted, Statement (logic), Beckwith–Wiedemann syndrome, Polymorphism, Single Nucleotide, Article, 03 medical and health sciences, 0302 clinical medicine, Prenatal Diagnosis, Humans, Medicine, 030304 developmental biology, 0303 health sciences, business.industry, Expert consensus, DNA Methylation, Neoplasms, Germ Cell and Embryonal, medicine.disease, 3. Good health, Molecular Diagnostic Techniques, 030220 oncology & carcinogenesis, Family medicine, business
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URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c855c5339d282c7473490b0e7bc1e33
https://pure.amc.nl/en/publications/expert-consensus-document-clinical-and-molecular-diagnosis-screening-and-management-of-beckwithwiedemann-syndrome-an-international-consensus-statement(dcb6ec09-907e-4f7b-8fbc-206cacd7382b).html -
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المؤلفون: Christian P. Kratz, Monica Bertoletti, Jet Bliek, Khalid Hussain, Thomas Eggermann, Trevor Cole, Pablo Lapunzina, Edmund J. Ladusans, Fiona Macdonald, Dirk Prawitt, Guido Cocchi, Giovanni Battista Ferrero, Jennifer M. Kalish, Katrina Tatton-Brown, Katrin Õunap, Sylvie Rossignol, Karen Grønskov, Małgorzata Krajewska-Walasek, Alison Foster, Maurizio De Pellegrin, Irène Netchine, Saskia M. Maas, Robert Baker, Abdulla Ibrahim, Frédéric Brioude, Alessandro Mussa, Zeynep Tümer, Susanne E Boonen, Chiara Tortora, Licia Peruzzi, Agata Skórka, Deborah J G Mackay, Raoul C.M. Hennekam, Jair Tenorio, Yves Le Bouc, Mark D. Kilby, Carole Coze, Silvia Russo, Caroleen Shipster, Andrea Riccio, Eamonn R. Maher
المساهمون: Brioude, Frédéric, Kalish, Jennifer M, Mussa, Alessandro, Foster, Alison C, Bliek, Jet, Ferrero, Giovanni Battista, Boonen, Susanne E, Cole, Trevor, Baker, Robert, Bertoletti, Monica, Cocchi, Guido, Coze, Carole, De Pellegrin, Maurizio, Hussain, Khalid, Ibrahim, Abdulla, Kilby, Mark D, Krajewska-Walasek, Malgorzata, Kratz, Christian P, Ladusans, Edmund J, Lapunzina, Pablo, Le Bouc, Yve, Maas, Saskia M, Macdonald, Fiona, Õunap, Katrin, Peruzzi, Licia, Rossignol, Sylvie, Russo, Silvia, Shipster, Caroleen, Skórka, Agata, Tatton-Brown, Katrina, Tenorio, Jair, Tortora, Chiara, Grønskov, Karen, Netchine, Irène, Hennekam, Raoul C, Prawitt, Dirk, Tümer, Zeynep, Eggermann, Thoma, Mackay, Deborah J. G, Riccio, Andrea, Maher, Eamonn R., Kalish, Jennifer M., Foster, Alison C., Boonen, Susanne E., Kilby, Mark D., Kratz, Christian P., Ladusans, Edmund J., Bouc, Yves Le, Maas, Saskia M., MacDonald, Fiona, Hennekam, Raoul C., Mackay, Deborah J.G., Maher, Eamonn [0000-0002-6226-6918], Apollo - University of Cambridge Repository
المصدر: Brioude, F, Kalish, J M, Mussa, A, Foster, A C, Bliek, J, Ferrero, G B, Boonen, S E, Cole, T, Baker, R, Bertoletti, M, Cocchi, G, Coze, C, De Pellegrin, M, Hussain, K, Ibrahim, A, Kilby, M D, Krajewska-Walasek, M, Kratz, C P, Ladusans, E J, Lapunzina, P, Le Bouc, Y, Maas, S M, Macdonald, F, Õunap, K, Peruzzi, L, Rossignol, S, Russo, S, Shipster, C, Skórka, A, Tatton-Brown, K, Tenorio, J, Tortora, C, Grønskov, K, Netchine, I, Hennekam, R C, Prawitt, D, Tümer, Z, Eggermann, T, Mackay, D J G, Riccio, A & Maher, E R 2018, ' Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome : an international consensus statement ', Nature Reviews Endocrinology, vol. 14, pp. 229-249 . https://doi.org/10.1038/nrendo.2017.166
مصطلحات موضوعية: 0301 basic medicine, Beckwith-Wiedemann Syndrome, Consensus, DNA Copy Number Variations, Reproductive Techniques, Assisted, Endocrinology, Diabetes and Metabolism, Library science, 32 Biomedical and Clinical Sciences, Translational research, 030105 genetics & heredity, Polymorphism, Single Nucleotide, Bildung, 03 medical and health sciences, Rare Diseases, Endocrinology, Prenatal Diagnosis, Humans, Medicine, media_common.cataloged_instance, Pediatric nephrology, Child growth, European union, 3202 Clinical Sciences, media_common, Pediatric, business.industry, European research, Expert consensus, DNA Methylation, Neoplasms, Germ Cell and Embryonal, National health service, 3. Good health, Molecular Diagnostic Techniques, business
وصف الملف: STAMPA; application/pdf; text
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62ccd81d3c3ec7a386b075060c38b821
http://hdl.handle.net/11591/385165 -
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المؤلفون: D Gareth, Evans, Emma, Woodward, Elaine F, Harkness, Anthony, Howell, Inga, Plaskocinska, Eamonn R, Maher, Marc D, Tischkowitz, Fiona, Lalloo
المصدر: Journal of medical genetics. 55(7)
مصطلحات موضوعية: Adult, BRCA2 Protein, Male, Ovarian Neoplasms, BRCA1 Protein, Bayes Theorem, Breast Neoplasms, Penetrance, Middle Aged, Colorectal Neoplasms, Hereditary Nonpolyposis, Risk Assessment, MutS Homolog 2 Protein, Mutation, Humans, Female, Genetic Predisposition to Disease, Genetic Testing, MutL Protein Homolog 1, Aged