المؤلفون: Houlston, Richard S, Cheadle, Jeremy, Dobbins, Sara E, Tenesa, Albert, Jones, Angela M, Howarth, Kimberley, Spain, Sarah L, Broderick, Peter, Domingo, Enric, Farrington, Susan, Prendergast, James GD, Pittman, Alan M, Theodoratou, Evi, Smith, Christopher G, Olver, Bianca, Walther, Axel, Barnetson, Rebecca A, Churchman, Michael, Jaeger, Emma EM, Penegar, Steven, Barclay, Ella, Martin, Lynn, Gorman, Maggie, Mager, Rachel, Johnstone, Elaine, Midgley, Rachel, Niittymäki, Iina, Tuupanen, Sari, Colley, James, Idziaszczyk, Shelley, Thomas, Huw JW, Lucassen, Anneke M, Evans, D Gareth R, Maher, Eamonn R, Maughan, Timothy, Dimas, Antigone, Dermitzakis, Emmanouil, Cazier, Jean-Baptiste, Aaltonen, Lauri A, Pharoah, Paul, Kerr, David J, Carvajal-Carmona, Luis G, Campbell, Harry, Dunlop, Malcolm G, Tomlinson, Ian PM

المصدر: Nature Genetics. 42(11)

مصطلحات موضوعية: Prevention, Cancer, Genetics, Colo-Rectal Cancer, Human Genome, Digestive Diseases, Chromosome Mapping, Chromosomes, Human, Pair 1, Chromosomes, Human, Pair 12, Chromosomes, Human, Pair 13, Chromosomes, Human, Pair 3, Colorectal Neoplasms, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, Genotype, Humans, Male, Meta-Analysis as Topic, Odds Ratio, Oligonucleotide Array Sequence Analysis, Polymorphism, Single Nucleotide, Risk Assessment, COGENT Consortium, CORGI Consortium, COIN Collaborative Group, COINB Collaborative Group, Biological Sciences, Medical and Health Sciences, Developmental Biology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/7r09g9scTest

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

مصطلحات موضوعية: copy-number, genetic screening/counselling, genetics, microarray, Bone Morphogenetic Protein Receptors, Type I, Child, Preschool, Chromosome Deletion, Cohort Studies, DNA Copy Number Variations, Female, Genetic Predisposition to Disease, Humans, Incidental Findings, Infant, Male, Membrane Proteins, Microarray Analysis, Neoplasms, Oncogenes, Pilot Projects, Proto-Oncogene Mas, Tuberous Sclerosis Complex 2 Protein

وصف الملف: Print-Electronic; application/pdf

العلاقة: https://www.repository.cam.ac.uk/handle/1810/270684Test

الإتاحة: https://doi.org/10.17863/CAM.17633Test
https://www.repository.cam.ac.uk/handle/1810/270684Test

المؤلفون: Aavikko, Mervi, Li, Song Ping, Saarinen, Silva, Alhopuro, Pia, Kaasinen, Eevi, Morgunova, Ekaterina, Li, Yilong, Vesanen, Kari, Smith, Miriam J., Evans, D. Gareth R, Pöyhönen, Minna, Kiuru, Anne, Auvinen, Anssi, Aaltonen, Lauri A., Taipale, Jussi, Vahteristo, Pia

المصدر: Aavikko , M , Li , S P , Saarinen , S , Alhopuro , P , Kaasinen , E , Morgunova , E , Li , Y , Vesanen , K , Smith , M J , Evans , D G R , Pöyhönen , M , Kiuru , A , Auvinen , A , Aaltonen , L A , Taipale , J & Vahteristo , P 2012 , ' Loss of SUFU function in familial multiple meningioma ' , American Journal of Human Genetics , vol. 91 , no. 3 , pp. 520-526 . https://doi.org/10.1016/j.ajhg.2012.07.015Test

مصطلحات موضوعية: Adult, Aged, Female, Genes, Neurofibromatosis 2, Humans, Male, Meningeal Neoplasms/genetics, Meningioma/genetics, Middle Aged, Models, Molecular, Mutation, Pedigree, Repressor Proteins/*genetics

الإتاحة: https://doi.org/10.1016/j.ajhg.2012.07.015Test
https://research.manchester.ac.uk/en/publications/c0375cb1-079f-491a-95b8-2cb56a91bcb3Test
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=22958902Test

المؤلفون: Wilding, A, Ingham, S L, Lalloo, F, Clancy, T, Huson, S M, Moran, Anthony, Evans, D Gareth R

المساهمون: Genetic Medicine, The University of Manchester, Manchester Academic Health Science Centre, St Mary’s Hospital, Central Manchester Hospitals Foundation Trust, Manchester, UK.

مصطلحات موضوعية: Cause of Death, Female, Humans, Life Expectancy, Male, Neoplastic Syndromes, Hereditary, Registries, Survival Analysis, Survival Rate

العلاقة: Life expectancy in hereditary cancer predisposing diseases: an observational study. 2012, 49 (4):264-9 J Med Genet; http://hdl.handle.net/10541/251632Test; Journal of Medical Genetics

الإتاحة: https://doi.org/10.1136/jmedgenet-2011-100562Test
http://hdl.handle.net/10541/251632Test

المؤلفون: Smith, Miriam J., Higgs, Jenny E., Bowers, Naomi L., Halliday, Dorothy, Paterson, Joan, Gillespie, James, Huson, Susan M., Freeman, Simon R., Lloyd, Simon, Rutherford, Scott A., King, Andrew, Wallace, Andrew J., Ramsden, Richard T., Evans, D. Gareth R

المصدر: Smith , M J , Higgs , J E , Bowers , N L , Halliday , D , Paterson , J , Gillespie , J , Huson , S M , Freeman , S R , Lloyd , S , Rutherford , S A , King , A , Wallace , A J , Ramsden , R T & Evans , D G R 2011 , ' Cranial meningiomas in 411 neurofibromatosis type 2 (NF2) patients with proven gene mutations: Clear positional effect of mutations, but absence of female severity effect on age at onset ' , Journal ....

مصطلحات موضوعية: Cohort Studies, Exons, Female, Genes, Neurofibromatosis 2, Genetic Association Studies, Humans, Male, Meningeal Neoplasms/complications/*genetics/pathology, Meningioma/complications/*genetics/pathology, Mosaicism, Mutation, Neurofibromatosis 2/complications/*genetics, Risk Assessment, Risk Factors, Sex Factors

الإتاحة: https://doi.org/10.1136/jmg.2010.085241Test
https://research.manchester.ac.uk/en/publications/a972a9e7-c07d-4d21-9309-a6abfbc603b0Test
http://jmg.bmj.com/content/48/4/261.full.pdfTest
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=21278391Test

المؤلفون: Ricketts, Christopher J, Forman, Julia R, Rattenberry, Eleanor, Bradshaw, Nicola, Lalloo, Fiona, Izatt, Louise, Cole, Trevor R, Armstrong, Ruth, Kumar, V K Ajith, Morrison, Patrick J, Atkinson, A Brew, Douglas, Fiona, Ball, Steve G, Cook, Jackie, Srirangalingam, Umasuthan, Killick, Pip, Kirby, Gail, Aylwin, Simon, Woodward, Emma R, Evans, D Gareth R, Hodgson, Shirley V, Murday, Vicky, Chew, Shern L, Connell, John M, Blundell, Tom L, Macdonald, Fiona, Maher, Eamonn R

المصدر: Ricketts , C J , Forman , J R , Rattenberry , E , Bradshaw , N , Lalloo , F , Izatt , L , Cole , T R , Armstrong , R , Kumar , V K A , Morrison , P J , Atkinson , A B , Douglas , F , Ball , S G , Cook , J , Srirangalingam , U , Killick , P , Kirby , G , Aylwin , S , Woodward , E R , Evans , D G R , Hodgson , S V , Murday , V ....

مصطلحات موضوعية: Adolescent, Adrenal Gland Neoplasms/genetics, Adult, Aged, Child, Preschool, DNA Mutational Analysis, Female, Genetic Predisposition to Disease, Genotype, Germ-Line Mutation, Head and Neck Neoplasms/genetics, Humans, Male, Middle Aged, Paraganglioma/genetics, Phenotype, Pheochromocytoma/genetics, Succinate Dehydrogenase/genetics, Young Adult

الإتاحة: https://doi.org/10.1002/humu.21136Test
https://kclpure.kcl.ac.uk/portal/en/publications/a36e2cb6-85a3-49cb-899f-ab00a5517466Test

المؤلفون: Evans, D Gareth R, Binchy, A, Shenton, Andrew, Hopwood, Penelope, Craufurd, D

المساهمون: Academic Unit, Medical Genetics and Regional Genetics Service, St Mary's Hospital, Manchester, UK. gareth.evans@cmmc.nhs.uk

مصطلحات موضوعية: Breast Cancer, Presymptomatic Testing, Adult, Aged, 80 and over, BRCA1 Protein, BRCA2 Protein, Breast Neoplasms, Family, Female, Genetic Predisposition to Disease, Genetic Screening, Humans, Male, Middle Aged, Mutation, Predictive Value of Tests

العلاقة: Comparison of proactive and usual approaches to offering predictive testing for BRCA1/2 mutations in unaffected relatives. 2009, 75 (2):124-32 Clin. Genet.; http://hdl.handle.net/10541/69578Test; Clinical Genetics

الإتاحة: https://doi.org/10.1111/j.1399-0004.2008.01146.xTest
http://hdl.handle.net/10541/69578Test

المؤلفون: Foster, C, Watson, M, Eeles, Rosalind, Eccles, Diana, Ashley, Sue, Davidson, R, Mackay, J, Morrison, P J, Hopwood, Penelope, Evans, D Gareth R

المساهمون: Macmillan Research Unit, School of Nursing and Midwifery, University of Southampton, Southampton, UK.

مصطلحات موضوعية: Breast Cancer, Ovarian Cancer, Prostate Cancer, Adult, Breast Neoplasms, Female, Genes, BRCA1, BRCA2, Genetic Predisposition to Disease, Genetic Screening, Great Britain, Heterozygote, Humans, Insurance Selection Bias, Male, Mammography, Ovarian Neoplasms, Ovariectomy, Patient Compliance, Prostatic Neoplasms, Risk Management

العلاقة: Predictive genetic testing for BRCA1/2 in a UK clinical cohort: three-year follow-up. 2007, 96 (5):718-24 Br. J. Cancer; http://hdl.handle.net/10541/71931Test; British Journal of Cancer

الإتاحة: https://doi.org/10.1038/sj.bjc.6603610Test
http://hdl.handle.net/10541/71931Test

المؤلفون: Sharif, Saba, Ferner, Rosalie, Birch, Jillian M, Gillespie, James E, Gattamaneni, Rao, Baser, Michael E, Evans, D Gareth R

المساهمون: Department of Clinical Genetics, St Mary's Hospital, Manchester, United Kingdom.

مصطلحات موضوعية: Cancer, Adolescent, Adult, Child, Preschool, Female, Follow-Up Studies, Humans, Infant, Male, Neoplasms, Second Primary, Neurofibromatosis 1, Optic Nerve Glioma, Radiotherapy, Risk Assessment, Risk Factors

العلاقة: Second primary tumors in neurofibromatosis 1 patients treated for optic glioma: substantial risks after radiotherapy. 2006, 24 (16):2570-5 J. Clin. Oncol.; http://hdl.handle.net/10541/72619Test; Journal of Clinical Oncology

الإتاحة: https://doi.org/10.1200/JCO.2005.03.8349Test
http://hdl.handle.net/10541/72619Test

المؤلفون: Brooks, Lucy, Lennard, Fiona, Shenton, Andrew, Lalloo, Fiona, Ambus, Ingrid, Ardern-Jones, Audrey, Belk, Rachel, Kerr, Bronwyn, Craufurd, David, Eeles, Rosalind, Evans, D Gareth R

المساهمون: Academic Unit of Medical Genetics and Regional Genetics Service, St Mary's Hospital, Manchester M13 0JH, UK.

مصطلحات موضوعية: Female, Genes, BRCA1, BRCA2, Genetic Counseling, Genetic Screening, Great Britain, Humans, Male, Mutation, Pedigree, Time Factors

العلاقة: BRCA1/2 predictive testing: a study of uptake in two centres. 2004, 12 (8):654-62 Eur. J. Hum. Genet.; http://hdl.handle.net/10541/78033Test; European Journal of Human Genetics

الإتاحة: https://doi.org/10.1038/sj.ejhg.5201206Test
http://hdl.handle.net/10541/78033Test