المؤلفون: Marjolijn C.J. Jongmans, Rosalyn Jewell, Léa Guerrini-Rousseau, Lisa Golmard, Till Milde, Katharina Wimmer, Eamonn R. Maher, Franck Bourdeaut, Kathy Pritchard-Jones, Hélène Cavé, Laurence Brugières, Christian P. Kratz, Catriona Duncan, Sam Behjati, Marion Gauthier-Villars, Kristian W. Pajtler

المصدر: The Lancet Child & Adolescent Health. 5:142-154

مصطلحات موضوعية: Male, medicine.medical_specialty, Adolescent, Genetic counseling, MEDLINE, Cancer therapy, Medical Oncology, Risk Assessment, 03 medical and health sciences, 0302 clinical medicine, Neoplasms, 030225 pediatrics, Developmental and Educational Psychology, Humans, Medicine, Genetic Predisposition to Disease, Genetic Testing, 030212 general & internal medicine, Child, Intensive care medicine, Genetic testing, Cancer prevention, medicine.diagnostic_test, business.industry, Paediatric oncology, Cancer, medicine.disease, Pediatrics, Perinatology and Child Health, Female, business, Risk assessment

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::35aac8112439ae13604c40a095d7dcd9
https://doi.org/10.1016/s2352-4642(20)30275-3

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
https://doi.org/10.1200/jco.2015.65.6140

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

المؤلفون: Mario Sanna, Fay Rodger, Howard Martin, Mercedes Robledo, Diana Walsh, Andrea Luchetti, Eamonn R. Maher, Emma R. Woodward, Masahiro Yao, Graeme R. Clark, Farida Latif, Richard M. Irving, Stephen Abbs, Hartmut P. H. Neumann, T.P.C. Martin

المساهمون: Luchetti, Andrea [0000-0002-6770-4008], Rodger, Fay [0000-0002-0214-6287], Clark, Graeme [0000-0002-5543-2789], Martin, Tom [0000-0001-7945-9786], Martin, Howard [0000-0002-1618-7557], Apollo - University of Cambridge Repository

المصدر: International Journal of Endocrinology, Vol 2015 (2015)
International Journal of Endocrinology

مصطلحات موضوعية: Article Subject, endocrine system diseases, SDHB, Endocrinology, Diabetes and Metabolism, SDHA, Gene mutation, Biology, lcsh:Diseases of the endocrine glands. Clinical endocrinology, Endocrinology, Germline mutation, Paraganglioma, medicine, Genetics, 2.1 Biological and endogenous factors, 1112 Oncology and Carcinogenesis, HRAS, Gene, neoplasms, Cancer, 0604 Genetics, lcsh:RC648-665, Endocrine and Autonomic Systems, FOS: Clinical medicine, Neurosciences, medicine.disease, Clinical Medicine and Science, FOS: Biological sciences, SDHD, Research Article

وصف الملف: text/xml; application/pdf; text/xhtml

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e53d8db7a6f0ecf443aefa14b2f07433

المؤلفون: Jill Clayton-Smith, Unzela Khan, Daniel Walker, D. Gareth Evans, J A Innes, Emma R. Woodward, Eamonn R. Maher, Georgina Hall, Lisa Reali, George J Burghel, Fiona Lalloo, Kim French, Dominic J. McMullan, Derek Lim

المساهمون: Evans, D Gareth R [0000-0002-8482-5784], Apollo - University of Cambridge Repository

المصدر: Journal of medical genetics. 55(2)

مصطلحات موضوعية: 0301 basic medicine, Male, Microarray, Cancer-Predisposing Gene, DNA Copy Number Variations, Pilot Projects, Biology, Bioinformatics, Proto-Oncogene Mas, Cohort Studies, 03 medical and health sciences, Neoplasms, Tuberous Sclerosis Complex 2 Protein, medicine, copy-number, Humans, genetics, Genetic Predisposition to Disease, Folliculin, Index case, Genetics (clinical), Bone Morphogenetic Protein Receptors, Type I, Incidental Findings, Cancer, Infant, Membrane Proteins, genetic screening/counselling, Oncogenes, medicine.disease, Microarray Analysis, 030104 developmental biology, CpG site, Child, Preschool, Cohort, Female, Chromosome Deletion, microarray, Cohort study

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::37347460784e91506656349d648d7ecd
https://pubmed.ncbi.nlm.nih.gov/28918392

المؤلفون: Olivier Giger, Eamonn R. Maher, Ruth T Casey, Nicholas Carroll, Venkata R. Bulusu

المصدر: Journal of Clinical Oncology. 37:11035-11035

مصطلحات موضوعية: Cancer Research, medicine.medical_specialty, business.industry, medicine.disease, Dermatology, digestive system diseases, Oncology, Café au lait spot, Medicine, Gastrointestinal stromal tumors (GISTs), Neurofibromatosis, medicine.symptom, business, neoplasms

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::9678548ca5a2dda3b57e63619b96449f
https://doi.org/10.1200/jco.2019.37.15_suppl.11035

المؤلفون: Saskia M. J. Hopman, Anja Wagner, Huib N. Caron, Leslie G. Biesecker, Trevor Cole, Cora M. Aalfs, Eamonn R. Maher, David Viskochil, Charis Eng, Max M. van Noesel, Johannes H. M. Merks, Alain Verloes, Eric Legius, Corianne A. J. M. de Borgie, Rosanna Weksberg, Raoul C.M. Hennekam

المساهمون: Pediatrics, Clinical Genetics, Paediatric Oncology, Oncogenomics, Cancer Center Amsterdam, Other departments, Human Genetics, Amsterdam Public Health, Amsterdam Neuroscience, Paediatrics

المصدر: European Journal of Cancer, 49(15), 3247-3254. Elsevier Ltd.
European journal of cancer (Oxford, England, 49(15), 3247-3254. Elsevier Limited

مصطلحات موضوعية: Male, Cancer Research, Pediatrics, medicine.medical_specialty, Delphi Technique, Referral, Childhood cancer, education, Delphi method, Pilot Projects, Article, Cohort Studies, SDG 3 - Good Health and Well-being, Neoplasms, medicine, Humans, Genetic Predisposition to Disease, Genetic Testing, Child, Early Detection of Cancer, Genetic testing, medicine.diagnostic_test, business.industry, Reproducibility of Results, Cancer, Geneticist, medicine.disease, Oncology, Cohort, Physical therapy, Female, business, Precancerous Conditions, Cohort study

وصف الملف: Print-Electronic

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::70dcd5bcc4bc9b537da6d6548f0f0a0d
https://doi.org/10.1016/j.ejca.2013.06.015

المؤلفون: Steven C. Clifford, Patrick H. Maxwell, David R. Mole, Eamonn R. Maher, Peter J. Ratcliffe, Matthew E. Cockman, Emma R. Woodward, Alan C Smallwood

مصطلحات موضوعية: von Hippel-Lindau Disease, Adrenal Gland Neoplasms, urologic and male genital diseases, medicine.disease_cause, Ligases, Neoplasms, Von Hippel–Lindau tumor suppressor, Tumor Cells, Cultured, Cloning, Molecular, Genetics (clinical), G alpha subunit, Mutation, biology, Brain Neoplasms, Nuclear Proteins, General Medicine, female genital diseases and pregnancy complications, Kidney Neoplasms, Hemangioblastoma, DNA-Binding Proteins, Phenotype, Von Hippel-Lindau Tumor Suppressor Protein, Hypoxia-Inducible Factor 1, Protein Binding, medicine.medical_specialty, Tumor suppressor gene, Genotype, Protein subunit, Ubiquitin-Protein Ligases, Down-Regulation, Pheochromocytoma, Transfection, Germline mutation, Internal medicine, Genetics, medicine, Von Hippel–Lindau disease, Molecular Biology, Carcinoma, Renal Cell, Ubiquitins, Alleles, Tumor Suppressor Proteins, Proteins, medicine.disease, Hypoxia-Inducible Factor 1, alpha Subunit, Endocrinology, Cancer research, biology.protein, Carcinogenesis, Transcription Factors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8fa0dca96efdd25f22ed62abcb939697
https://ora.ox.ac.uk/objects/uuid:79885dd6-7620-4a15-aae6-af32f19f2138

المؤلفون: Eamonn R. Maher, Derek Lim, Rick van Minkelen, Emma R. Woodward, Marc Tischkowitz, Ian M. Frayling, Lone Sunde, James Whitworth, Lisa Happerfield, Anne-Bine Skytte, Mark J. Arends

المساهمون: Clinical Genetics, Whitworth, James [0000-0002-3682-2298], Tischkowitz, Marc [0000-0002-7880-0628], Maher, Eamonn [0000-0002-6226-6918], Apollo - University of Cambridge Repository

المصدر: Whitworth, J, Skytte, A-B, Sunde, L, Lim, D H, Arends, M J, Happerfield, L, Frayling, I M, van Minkelen, R, Woodward, E R, Tischkowitz, M D & Maher, E R 2016, ' Multilocus Inherited Neoplasia Alleles Syndrome : A Case Series and Review ', JAMA oncology, vol. 2, no. 3, pp. 373-379 . https://doi.org/10.1001/jamaoncol.2015.4771
JAMA Oncology, 2(3), 373-379. American Medical Association

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Cancer Research, Databases, Factual, Biology, 03 medical and health sciences, 0302 clinical medicine, Genetic disorder diagnosis, Locus heterogeneity, Neoplasms, Proto-Oncogene Proteins, Genotype, medicine, Humans, Genetic Predisposition to Disease, Allele, Exome sequencing, Alleles, Aged, Genetics, Tumor Suppressor Proteins, Cancer, High-Throughput Nucleotide Sequencing, Syndrome, Middle Aged, medicine.disease, Penetrance, 030104 developmental biology, MutS Homolog 2 Protein, Oncology, 030220 oncology & carcinogenesis, Mutation, Allelic heterogeneity, Female, Tumor Suppressor Protein p53

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5cf884640c82bcb217c5e519013ac14b
https://pubmed.ncbi.nlm.nih.gov/26659639

المؤلفون: Salwati Shuib, Farida Latif, Patrick H. Maxwell, Masahiro Yao, Takeshi Kishida, Wenbin Wei, Esther Meyer, Dominic J. McMullan, Mark R. Morris, Eleanor Rattenberry, Eamonn R. Maher, Hariom Sur

المصدر: Genes, Chromosomes and Cancer. 50:479-488

مصطلحات موضوعية: Epigenomics, Cancer Research, Candidate gene, von Hippel-Lindau Disease, endocrine system diseases, Tumor suppressor gene, Gene Dosage, Biology, urologic and male genital diseases, Gene dosage, Germline mutation, Renal cell carcinoma, Genetics, Carcinoma, medicine, Humans, Von Hippel–Lindau disease, Carcinoma, Renal Cell, neoplasms, Gene Expression Profiling, medicine.disease, female genital diseases and pregnancy complications, Clear cell renal cell carcinoma, Chromosomes, Human, Pair 2, Cancer research, Chromosomes, Human, Pair 17

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::098bfdcc94c59e413d0506ce1a8faaff
https://doi.org/10.1002/gcc.20865