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المؤلفون: Shazia, Mahamdallie, Shawn, Yost, Emma, Poyastro-Pearson, Esty, Holt, Anna, Zachariou, Sheila, Seal, Anna, Elliott, Matthew, Clarke, Margaret, Warren-Perry, Sandra, Hanks, John, Anderson, Simon, Bomken, Trevor, Cole, Roula, Farah, Rhoikos, Furtwaengler, Adam, Glaser, Richard, Grundy, James, Hayden, Steve, Lowis, Frédéric, Millot, James, Nicholson, Milind, Ronghe, Jane, Skeen, Denise, Williams, Daniel, Yeomanson, Elise, Ruark, Nazneen, Rahman
مصطلحات موضوعية: Adult, Genetic Markers, Male, Jumonji Domain-Containing Histone Demethylases, F-Box-WD Repeat-Containing Protein 7, Genes, Wilms Tumor, Adolescent, Middle Aged, Tripartite Motif-Containing Protein 28, Prognosis, Wilms Tumor, United Kingdom, Article, Kidney Neoplasms, Young Adult, Child, Preschool, Mutation, Exome Sequencing, Humans, Female, Genetic Predisposition to Disease, Exome, Child
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::cdb18334ee19befe259ca75a00843b82
https://europepmc.org/articles/PMC6472290/ -
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المؤلفون: Corneliu A. Bodea, Benjamin M. Neale, Stephan Ripke, Mark J. Daly, Bernie Devlin, Kathryn Roeder, Murray Barclay, Laurent Peyrin-Biroulet, Mathias Chamaillard, Jean-Frederick Colombel, Mario Cottone, Anthony Croft, Renata D’Incà, Jonas Halfvarson, Katherine Hanigan, Paul Henderson, Jean-Pierre Hugot, Amir Karban, Nicholas A. Kennedy, Mohammed Azam Khan, Marc Lémann, Arie Levine, Dunecan Massey, Monica Milla, Grant W. Montgomery, Sok Meng Evelyn Ng, Ioannis Oikonomou, Harald Peeters, Deborah D. Proctor, Jean-Francois Rahier, Rebecca Roberts, Paul Rutgeerts, Frank Seibold, Laura Stronati, Kirstin M. Taylor, Leif Törkvist, Kullak Ublick, Johan Van Limbergen, Andre Van Gossum, Morten H. Vatn, Hu Zhang, Wei Zhang, Jane M. Andrews, Peter A. Bampton, Timothy H. Florin, Richard Gearry, Krupa Krishnaprasad, Ian C. Lawrance, Gillian Mahy, Graham Radford-Smith, Rebecca L. Roberts, Lisa A. Simms, Leila Amininijad, Isabelle Cleynen, Olivier Dewit, Denis Franchimont, Michel Georges, Debby Laukens, Emilie Theatre, André Van Gossum, Severine Vermeire, Guy Aumais, Leonard Baidoo, Arthur M. Barrie, Karen Beck, Edmond-Jean Bernard, David G. Binion, Alain Bitton, Steve R. Brant, Judy H. Cho, Albert Cohen, Kenneth Croitoru, Lisa W. Datta, Colette Deslandres, Richard H. Duerr, Debra Dutridge, John Ferguson, Joann Fultz, Philippe Goyette, Gordon R. Greenberg, Talin Haritunians, Gilles Jobin, Seymour Katz, Raymond G. Lahaie, Dermot P. McGovern, Linda Nelson, Sok Meng Ng, Kaida Ning, Pierre Paré, Miguel D. Regueiro, John D. Rioux, Elizabeth Ruggiero, L. Philip Schumm, Marc Schwartz, Regan Scott, Yashoda Sharma, Mark S. Silverberg, Denise Spears, A. Hillary Steinhart, Joanne M. Stempak, Jason M. Swoger, Constantina Tsagarelis, Clarence Zhang, Hongyu Zhao, Jan Aerts, Tariq Ahmad, Hazel Arbury, Anthony Attwood, Adam Auton, Stephen G. Ball, Anthony J. Balmforth, Chris Barnes, Jeffrey C. Barrett, Inês Barroso, Anne Barton, Amanda J. Bennett, Sanjeev Bhaskar, Katarzyna Blaszczyk, John Bowes, Oliver J. Brand, Peter S. Braund, Francesca Bredin, Gerome Breen, Morris J. Brown, Ian N. Bruce, Jaswinder Bull, Oliver S. Burren, John Burton, Jake Byrnes, Sian Caesar, Niall Cardin, Chris M. Clee, Alison J. Coffey, John M.C. Connell, Donald F. Conrad, Jason D. Cooper, Anna F. Dominiczak, Kate Downes, Hazel E. Drummond, Darshna Dudakia, Andrew Dunham, Bernadette Ebbs, Diana Eccles, Sarah Edkins, Cathryn Edwards, Anna Elliot, Paul Emery, David M. Evans, Gareth Evans, Steve Eyre, Anne Farmer, Nicol Ferrier, Edward Flynn, Alistair Forbes, Liz Forty, Jayne A. Franklyn, Timothy M. Frayling, Rachel M. Freathy, Eleni Giannoulatou, Polly Gibbs, Paul Gilbert, Katherine Gordon-Smith, Emma Gray, Elaine Green, Chris J. Groves, Detelina Grozeva, Rhian Gwilliam, Anita Hall, Naomi Hammond, Matt Hardy, Pile Harrison, Neelam Hassanali, Husam Hebaishi, Sarah Hines, Anne Hinks, Graham A. Hitman, Lynne Hocking, Chris Holmes, Eleanor Howard, Philip Howard, Joanna M.M. Howson, Debbie Hughes, Sarah Hunt, John D. Isaacs, Mahim Jain, Derek P. Jewell, Toby Johnson, Jennifer D. Jolley, Ian R. Jones, Lisa A. Jones, George Kirov, Cordelia F. Langford, Hana Lango-Allen, G. Mark Lathrop, James Lee, Kate L. Lee, Charlie Lees, Kevin Lewis, Cecilia M. Lindgren, Meeta Maisuria-Armer, Julian Maller, John Mansfield, Jonathan L. Marchini, Paul Martin, Dunecan C.O. Massey, Wendy L. McArdle, Peter McGuffin, Kirsten E. McLay, Gil McVean, Alex Mentzer, Michael L. Mimmack, Ann E. Morgan, Andrew P. Morris, Craig Mowat, Patricia B. Munroe, Simon Myers, William Newman, Elaine R. Nimmo, Michael C. O’Donovan, Abiodun Onipinla, Nigel R. Ovington, Michael J. Owen, Kimmo Palin, Aarno Palotie, Kirstie Parnell, Richard Pearson, David Pernet, John R.B. Perry, Anne Phillips, Vincent Plagnol, Natalie J. Prescott, Inga Prokopenko, Michael A. Quail, Suzanne Rafelt, Nigel W. Rayner, David M. Reid, Anthony Renwick, Susan M. Ring, Neil Robertson, Samuel Robson, Ellie Russell, David St Clair, Jennifer G. Sambrook, Jeremy D. Sanderson, Stephen J. Sawcer, Helen Schuilenburg, Carol E. Scott, Richard Scott, Sheila Seal, Sue Shaw-Hawkins, Beverley M. Shields, Matthew J. Simmonds, Debbie J. Smyth, Elilan Somaskantharajah, Katarina Spanova, Sophia Steer, Jonathan Stephens, Helen E. Stevens, Kathy Stirrups, Millicent A. Stone, David P. Strachan, Zhan Su, Deborah P.M. Symmons, John R. Thompson, Wendy Thomson, Martin D. Tobin, Mary E. Travers, Clare Turnbull, Damjan Vukcevic, Louise V. Wain, Mark Walker, Neil M. Walker, Chris Wallace, Margaret Warren-Perry, Nicholas A. Watkins, John Webster, Michael N. Weedon, Anthony G. Wilson, Matthew Woodburn, B. Paul Wordsworth, Chris Yau, Allan H. Young, Eleftheria Zeggini, Matthew A. Brown, Paul R. Burton, Mark J. Caulfield, Alastair Compston, Martin Farrall, Stephen C.L. Gough, Alistair S. Hall, Andrew T. Hattersley, Adrian V.S. Hill, Christopher G. Mathew, Marcus Pembrey, Jack Satsangi, Michael R. Stratton, Jane Worthington, Matthew E. Hurles, Audrey Duncanson, Willem H. Ouwehand, Miles Parkes, Nazneen Rahman, John A. Todd, Nilesh J. Samani, Dominic P. Kwiatkowski, Mark I. McCarthy, Nick Craddock, Panos Deloukas, Peter Donnelly, Jenefer M. Blackwell, Elvira Bramon, Juan P. Casas, Aiden Corvin, Janusz Jankowski, Hugh S. Markus, Colin N.A. Palmer, Robert Plomin, Anna Rautanen, Richard C. Trembath, Ananth C. Viswanathan, Nicholas W. Wood, Chris C.A. Spencer, Gavin Band, Céline Bellenguez, Colin Freeman, Garrett Hellenthal, Matti Pirinen, Amy Strange, Hannah Blackburn, Suzannah J. Bumpstead, Serge Dronov, Matthew Gillman, Alagurevathi Jayakumar, Owen T. McCann, Jennifer Liddle, Simon C. Potter, Radhi Ravindrarajah, Michelle Ricketts, Matthew Waller, Paul Weston, Sara Widaa, Pamela Whittaker
المساهمون: UCL - SSS/IREC/GAEN - Pôle d'Hépato-gastro-entérologie, UCL - (MGD) Service de gastro-entérologie, Institute for Molecular Medicine Finland, Aarno Palotie / Principal Investigator, Genomics of Neurological and Neuropsychiatric Disorders
المصدر: American journal of human genetics, Vol. 98, no. 5, p. 857-868 (2016)
مصطلحات موضوعية: 0301 basic medicine, Heredity, Genetics, Genetics (clinical), Computer science, Genetic Linkage, Genome-wide association study, VARIANTS, 030105 genetics & heredity, computer.software_genre, Bayes' theorem, Gene Frequency, HISTORY, IMPUTATION, False positive paradox, Genetics(clinical), Disease, 0303 health sciences, education.field_of_study, 030305 genetics & heredity, Inheritance (genetic algorithm), Genotype, DATABASE, Genetic genealogy, POWER, Population, Genomics, POPULATION STRATIFICATION, Biology, INHERITANCE, Population stratification, Machine learning, Polymorphism, Single Nucleotide, Article, 03 medical and health sciences, Humans, Genetic Predisposition to Disease, GENOME-WIDE ASSOCIATION, education, Allele frequency, FAMILY-BASED ASSOCIATION, 030304 developmental biology, Genetic association, business.industry, Bayes Theorem, DISEASE ASSOCIATION, Human genetics, Hierarchical clustering, Genetics, Population, 030104 developmental biology, Case-Control Studies, 3111 Biomedicine, Artificial intelligence, business, computer, Software, Imputation (genetics)
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المؤلفون: Rosalind A. Eeles, Douglas F. Easton, Darshna Dudakia, Zsofia Kote-Jarai, D. Timothy Bishop, Michael R. Stratton, Nazneen Rahman, Clare Turnbull, Robert Huddart, Margaret Warren-Perry, Silvana Powell, Anna Elliott, Julian Peto, Razvan Sultana, Kevin Litchfield, Emma Ramsay, Sheila Seal, Uktcc, Kenneth Muir, Jérémie Nsengimana, Anthony Renwick
المصدر: Human Molecular Genetics. 24:1169-1176
مصطلحات موضوعية: Male, Linkage disequilibrium, Genotype, Genome-wide association study, Single-nucleotide polymorphism, Locus (genetics), Biology, Polymorphism, Single Nucleotide, Linkage Disequilibrium, Gene Frequency, Testicular Neoplasms, Odds Ratio, Genetics, Humans, Genetic Predisposition to Disease, Allele, Molecular Biology, Allele frequency, Genotyping, Alleles, Genetics (clinical), Genetic association, Association Studies Articles, General Medicine, Neoplasms, Germ Cell and Embryonal, 3. Good health, Genetic Loci, Case-Control Studies, Female, Chromosomes, Human, Pair 3, Genome-Wide Association Study
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::489d1f11cd4b6f9cea98000a62b55472
https://doi.org/10.1093/hmg/ddu511 -
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المؤلفون: Morris J. Brown, Sanjeev S. Bhaskar, Alison J. Coffey, Suzanne Rafelt, Kirsten McLay, John Bowes, Francesca Bredin, Alastair Compston, John C. Mansfield, Elaine R. Nimmo, Kate Downes, Peter McGuffin, Neil Walker, Anthony J. Balmforth, Philip Howard, Detelina Grozeva, Helen Stevens, Kate L. Lee, Richard D. Pearson, Gerome Breen, T. Daniel Andrews, Sheila Seal, Anna Elliot, Beverley M. Shields, Andrew T. Hattersley, Sarah Edkins, Ann E. Morgan, Gil McVean, Julian Maller, Millicent A. Stone, Adam Auton, Carol Scott, Michael R. Stratton, Matthew Woodburn, John R. B. Perry, Michael Conlon O'Donovan, Nigel P. Carter, Vincent Plagnol, Stephen Sawcer, Sarah Hines, Mahim Jain, Allan H. Young, Steve Eyre, Elilan Somaskantharajah, Alexander J. Mentzer, Niall Cardin, Eleanor Howard, Inês Barroso, Stephen C. L. Gough, Toby Johnson, Deborah P M Symmons, Christopher Holmes, David St Clair, Patricia B. Munroe, Sue Shaw-Hawkins, Emma Gray, Stephen W. Scherer, Tariq Ahmad, Jaswinder Bull, Debbie Hughes, E. Russell, Timothy M. Frayling, Chris Clee, I. Nicol Ferrier, James Lee, Dominic P. Kwiatkowski, Husam Hebaishi, Anne Hinks, Simon Myers, Gareth Evans, Eleftheria Zeggini, Katarina Spanova, Michael L. Mimmack, David M. Reid, Amanda J. Bennett, Richard T. Scott, Armand Valsesia, Derek P. Jewell, Andrew P. Morris, Peter Donnelly, Mark J. Caulfield, Jake K. Byrnes, Lars Feuk, Pile Harrison, Anna F. Dominiczak, Cathryn Edwards, Andrew Dunham, Dalila Pinto, Inga Prokopenko, Ian Jones, Craig Mowat, Nigel R. Ovington, Willem H. Ouwehand, Edward Flynn, Jason D. Cooper, Louise V. Wain, Alistair Forbes, Bernadette Ebbs, Jennifer Jolley, Jonathan Marchini, Peter S. Braund, Ifejinelo Onyiah, Mark Walker, Adrian V. S. Hill, Cordelia Langford, Anne M. Phillips, George Kirov, David P. Strachan, Oliver S. Burren, Martin D. Tobin, Anthony G. Wilson, Ian N. Bruce, Hana Lango-Allen, Alistair S. Hall, Natalie J. Prescott, Charles Lee, Clare Turnbull, Cecilia M. Lindgren, John D. Isaacs, Jack Satsangi, Liz Forty, John M. C. Connell, Neelam Hassanali, Hazel E. Drummond, Matthew A. Brown, John A. Todd, Joanna M. M. Howson, Jennifer G. Sambrook, Graham A. Hitman, Michael N. Weedon, Christopher Yau, Abiodun Onipinla, Kathy Stirrups, Chris Tyler-Smith, Darshna Dudakia, G. Mark Lathrop, Katherine Gordon-Smith, Nazneen Rahman, Christopher J. Groves, William G. Newman, Kirstie Parnell, Stephen G. Ball, Tomas W Fitzgerald, Paul Gilbert, Kevin Lewis, Charlie W. Lees, Polly Gibbs, Rachel M. Freathy, Aarno Palotie, Katarzyna Blaszczyk, Matthew E. Hurles, Jonathan Stephens, Lynne J. Hocking, Nicholas A. Watkins, Christopher G. Mathew, Helen Schuilenburg, David Pernet, Eleni Giannoulatou, Kimmo Palin, Nigel W. Rayner, Donald F. Conrad, Susan M. Ring, John R. Thompson, Debbie J. Smyth, Wendy L. McArdle, B. Paul Wordsworth, David M. Evans, Dunecan Massey, Naomi Hammond, Diana Eccles, Panos Deloukas, Sian Caesar, Chris P. Barnes, Sophia Steer, Anthony Attwood, Chris Wallace, Richard Redon, Paul Burton, Anne Barton, Marcus Pembrey, Michael John Owen, Jane Worthington, Mary E. Travers, Jeremy D. Sanderson, Meeta Maisuria-Armer, Elaine K. Green, Michael A. Quail, Oliver J. Brand, Anne Farmer, Matthew J. Simmonds, Neil Robertson, Nicholas John Craddock, Zhan Su, Jan Aerts, Martin Farrall, Hazel Arbury, Damjan Vukcevic, Paul Emery, Omer Gokumen, A Hall, Wendy Thomson, Jeffrey C. Barrett, Margaret Warren-Perry, Rhian Gwilliam, Sarah E. Hunt, Samuel Robson, Paul Martin, Audrey Duncanson, Anthony Renwick, John Webster, Lisa Jones, Mark I. McCarthy, Nilesh J. Samani, Matthew Hardy, Miles Parkes, John Burton, Jayne A. Franklyn
المساهمون: Institut de Génomique d'Evry (IG), Université Paris-Saclay-Institut de Biologie François JACOB (JACOB), Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Department of Statistics [Oxford], University of Oxford, The Wellcome Trust Centre for Human Genetics [Oxford], The Wellcome Trust Case Control Consortium, Institut de Biologie François JACOB (JACOB), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay, University of Oxford [Oxford], Medical Research Council (MRC)
المصدر: Nature
Nature, 2010, 464 (7289), pp.713-720. ⟨10.1038/nature08979⟩
Nature, Nature Publishing Group, 2010, 464 (7289), pp.713-720. ⟨10.1038/nature08979⟩
U86مصطلحات موضوعية: endocrine system diseases, [SDV]Life Sciences [q-bio], Genome-wide association study, Pilot Projects, CCL3L1, SUSCEPTIBILITY, Arthritis, Rheumatoid, Diabetes mellitus genetics, 0302 clinical medicine, Crohn Disease, Gene Frequency, DUPLICATIONS, SCHIZOPHRENIA, Disease, Copy-number variation, Oligonucleotide Array Sequence Analysis, Genetics, 0303 health sciences, Multidisciplinary, PSORIASIS, HERITABILITY, LARGE-SCALE, Nucleic Acid Hybridization, Science & Technology - Other Topics, Wellcome Trust Case Control Consortium, Quality Control, DNA Copy Number Variations, General Science & Technology, Single-nucleotide polymorphism, COPY-NUMBER VARIATION, Biology, Polymorphism, Single Nucleotide, Article, 03 medical and health sciences, MD Multidisciplinary, mental disorders, Genetic predisposition, Diabetes Mellitus, SNP, Humans, Genetic Predisposition to Disease, Allele frequency, POLYMORPHISMS, 030304 developmental biology, Genetic association, Science & Technology, MULTIDISCIPLINARY SCIENCES, DELETION, C431 Medical Genetics, Case-Control Studies, 030217 neurology & neurosurgery, Genome-Wide Association Study
وصف الملف: application/pdf
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المؤلفون: Heidi Traunecker, Veronica Neefjes, Elise Ruark, Barry Pizer, Charles A. Stiller, Mary Gerrard, Rosa Maria Munoz-Xicola, Paul E. Grundy, Jeffrey S. Dome, Ingrid Slade, Anthony Renwick, Elizabeth R Perdeaux, Gill Levitt, Juliet Hale, Mabrook Madi, Bruce Morland, Nazneen Rahman, David Pernet, Sandra Hanks, Milind Ronghe, Kathy Pritchard-Jones, Michael Stevens, Arlene Naranjo, J.A. Kohler, Sheila Seal, Susan Picton, Anna Zachariou, Margaret Warren-Perry, Martin Hewitt, Clare Turnbull, James Nicholson, Sheila Lane
المصدر: Nature genetics
مصطلحات موضوعية: Genome-wide association study, Biology, Bioinformatics, Polymorphism, Single Nucleotide, Wilms Tumor, Article, 03 medical and health sciences, 0302 clinical medicine, Genetics, medicine, Genetic predisposition, Humans, Genetic Predisposition to Disease, 030304 developmental biology, 0303 health sciences, Chromosomes, Human, Pair 11, Wilms' tumor, medicine.disease, Kidney Neoplasms, 3. Good health, Pediatric Kidney Tumor, Chromosomes, Human, Pair 2, 030220 oncology & carcinogenesis, Cancer genetics, Susceptibility locus, Genome-Wide Association Study
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المؤلفون: Samantha Butler, Diana Eccles, H Hanson, Margaret Warren-Perry, Richard S. Houlston, Deborah Hughes, Nazneen Rahman, Andrew Tutt, D G Evans, Susan Shanley, Sheila Seal, Gillian Ross, Clare Turnbull, I Howell, Lindsay B. Robertson
المصدر: British Journal of Cancer
مصطلحات موضوعية: Oncology, Cancer Research, medicine.medical_specialty, Receptor, ErbB-2, DNA Mutational Analysis, Breast Neoplasms, genetic testing, Breast cancer, breast cancer, Internal medicine, medicine, Genetic predisposition, Humans, Family history, skin and connective tissue diseases, Triple-negative breast cancer, Genetic Association Studies, Genetic testing, Gynecology, triple-negative, medicine.diagnostic_test, business.industry, BRCA1 Protein, Incidence (epidemiology), Incidence, Age Factors, Cancer, Genetics and Genomics, Middle Aged, medicine.disease, BRCA1, Receptors, Estrogen, Mutation (genetic algorithm), Mutation, Female, business, Receptors, Progesterone
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المؤلفون: Mark T. Rogers, Sheila Seal, Susan Peock, Rosemarie Davidson, Diana Eccles, Carole Brewer, Michael R. Stratton, Fiona Douglas, Alex Henderson, Angela F. Brady, Nazneen Rahman, Deborah Hughes, Margaret Warren-Perry, Munaza Ahmed, Anthony Renwick, Douglas F. Easton, Louise Izatt, Peter Donnelly, Lynn Greenhalgh, Fiona Lalloo, Julian Barwell, G Brice, Anna Elliott, Jackie Cook, C Chapman, David Pernet, Patrick J. Morrison, Jonathan Berg, Joan Paterson, Lisa Walker, Clare Turnbull, Julian Adlard, Ajith Kumar, Zosia Miedzybrodzka, Mary Porteous, Alan Donaldson, Susan Shanley, D. Gareth Evans
المصدر: Human Molecular Genetics, 21, 958-62
Human Molecular Genetics, 21, 4, pp. 958-62مصطلحات موضوعية: endocrine system diseases, DNA repair, DNA Mutational Analysis, Genes, BRCA2, Genes, BRCA1, Breast Neoplasms, Cell Cycle Proteins, DCN PAC - Perception action and control, Ataxia Telangiectasia Mutated Proteins, Protein Serine-Threonine Kinases, Biology, medicine.disease_cause, Breast cancer, Gene interaction, Genetics, medicine, Genetic predisposition, Humans, Genetic Predisposition to Disease, skin and connective tissue diseases, Molecular Biology, CHEK2, Genetics (clinical), Family Health, Mutation, Models, Genetic, Tumor Suppressor Proteins, Association Studies Articles, General Medicine, medicine.disease, BRCA2 Protein, United Kingdom, Pedigree, DNA-Binding Proteins, Checkpoint Kinase 2, Cancer research, Female
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::85e2e848dd3a7371734c7f0d366d6cf5
https://hdl.handle.net/2066/107983 -
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المؤلفون: Alan Davidson, Bianca de Souza, Elise Ruark, Anna Zachariou, Margaret Warren-Perry, Anne Murray, Elizabeth R Perdeaux, Emma Ramsay, Charles A. Stiller, Shazia Mahamdallie, Kathy Pritchard-Jones, Sandra Hanks, Sheila Seal, Silvana Del Vecchio Duarte, Helen Price, Nazneen Rahman, Anna Elliott
المصدر: Nature Communications
مصطلحات موضوعية: Male, Heterozygote, Population, DNA Mutational Analysis, General Physics and Astronomy, Biology, Kidney, Wilms Tumor, General Biochemistry, Genetics and Molecular Biology, Article, Exon, symbols.namesake, Germline mutation, medicine, Humans, Exome, Genetic Predisposition to Disease, Lymphocytes, education, Gene, Germ-Line Mutation, Genetics, Sanger sequencing, Family Health, education.field_of_study, Multidisciplinary, Infant, Nuclear Proteins, Wilms' tumor, General Chemistry, Exons, medicine.disease, Phosphoproteins, 3. Good health, Pedigree, Alternative Splicing, Child, Preschool, symbols, Female, Kidney cancer, Transcription Factors
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المؤلفون: Emma Ramsay, Elise Ruark, Angela F. Brady, Ilirjana Bajrami, Manuel A. Rivas, Peter Humburg, Panos Deloukas, Rachel Brough, Chey Loveday, Mary Porteous, Alexander Renwick, Anne Murray, Jessica Douglas, Lorna Gregory, D. Gareth Evans, Patrick J. Morrison, Alan Ashworth, Jonathan Berg, Nazneen Rahman, Daniel Nava Rodrigues, Christopher J. Lord, Diana Eccles, John A. Todd, Anna Zachariou, Margaret Warren-Perry, Louise Izatt, Silvana Del Vecchio Duarte, Alex Henderson, Sandra Hanks, Fiona Douglas, Julian Adlard, Mark I. McCarthy, Lynn Greenhalgh, Caron Chapman, Katie Snape, Martin Gore, Jackie Cook, Andrew J. Rimmer, Tsun-Po Yang, Julian Barwell, Matthew A. Brown, Mark J. Caufield, Peter Donnelly, Naser Ansari Pour, Ajith Kumar, Sheila Seal, Jorge S. Reis-Filho, Mark T. Rogers, Carole Brewer, Antonis C. Antoniou, R. Davidson, Fiona Lalloo, Zosia Miedzybrodzka, G Brice, Adriana Campion-Flora, Joan Paterson, Lisa Walker, Neil Walker, Alan Donaldson, Susan Shanley, Richard S. Houlston, Clare Turnbull
المصدر: Drummond, H & Lees, C & Nimmo, E & Satsangi, J 2013, ' Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer ', Nature, vol. 493, no. 7432, pp. 406-10 . https://doi.org/10.1038/nature11725
مصطلحات موضوعية: Breast Neoplasms, Biology, medicine.disease_cause, Article, Exon, Breast cancer, Genetic variation, medicine, Genetic predisposition, Phosphoprotein Phosphatases, Cluster Analysis, Humans, Genetic Predisposition to Disease, Lymphocytes, Allele, Gene, Alleles, Genetics, Ovarian Neoplasms, Mutation, Multidisciplinary, Mosaicism, Exons, Sequence Analysis, DNA, medicine.disease, Protein Phosphatase 2C, Isoenzymes, Female, Tumor Suppressor Protein p53, Ovarian cancer
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72f7ec3117a52b3dc99c55032b43803f
https://www.pure.ed.ac.uk/ws/files/16654591/Mosaic_PPM1D_mutations_are_associated_with_predisposition_to_breast_and_ovarian_cancer..pdf -
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المؤلفون: D. Gareth Evans, Diana Eccles, Mark T. Rogers, Zosia Miedzybrodzka, Alex Henderson, Mary Porteous, Sheila Seal, Bolot Kalmyrzaev, Angela F. Brady, Katie Snape, Chey Loveday, Rosemarie Davidson, Nazneen Rahman, Carole Brewer, Julian Barwell, Jonathan Berg, Julian Adlard, Alan Donaldson, Susan Shanley, Jorge S. Reis-Filho, Alan Ashworth, Antonis C. Antoniou, Georgina Bowden, Elise Ruark, Christopher J. Lord, Louise Izatt, Margaret Warren-Perry, Emma Ramsay, Jessica Frankum, C Chapman, Ajith Kumar, Fiona Lalloo, Lynn Greenhalgh, Deborah Hughes, Clare Turnbull, Jackie Cook, G Brice, Joan Paterson, Lisa Walker, Patrick J. Morrison, Fiona Douglas, Anthony Renwick
المصدر: Nature genetics. 43(9)
مصطلحات موضوعية: Heterozygote, CHO Cells, Biology, Poly(ADP-ribose) Polymerase Inhibitors, medicine.disease_cause, Germline, Article, Germline mutation, Cricetulus, Cricetinae, Genetics, Genetic predisposition, medicine, Neoplasm, Animals, Humans, Genetic Predisposition to Disease, Germ-Line Mutation, Ovarian Neoplasms, Mutation, Age Factors, Heterozygote advantage, medicine.disease, Pedigree, DNA-Binding Proteins, Drug Resistance, Neoplasm, RAD51C, Female, Ovarian cancer