-
1
المؤلفون: C. Loveday, A. Garrett, P. Law, S. Hanks, E. Poyastro-Pearson, J.W. Adlard, J. Barwell, J. Berg, A.F. Brady, C. Brewer, C. Chapman, J. Cook, R. Davidson, A. Donaldson, F. Douglas, L. Greenhalgh, A. Henderson, L. Izatt, A. Kumar, F. Lalloo, Z. Miedzybrodzka, P.J. Morrison, J. Paterson, M. Porteous, M.T. Rogers, L. Walker, D. Eccles, D.G. Evans, K. Snape, H. Hanson, R.S. Houlston, C. Turnbull, A. Ardern-Jones, J. Adlard, M. Ahmed, G. Attard, K. Bailey, E. Bancroft, C. Bardsley, D. Barton, M. Bartlett, L. Baxter, R. Belk, B. Bernhard, T. Bishop, L. Boyes, N. Bradshaw, S. Brant, G. Brice, G. Bromilow, C. Brooks, A. Bruce, B. Bulman, L. Burgess, J. Campbell, N. Canham, B. Castle, R. Cetnarskyj, O. Claber, N. Coates, T. Cole, A. Collins, S. Coulson, G. Crawford, D. Cruger, C. Cummings, L. D’Mello, L. Day, B. Dell, C. Dolling, H. Dorkins, S. Downing, S. Drummond, C. Dubras, J. Dunlop, S. Durrell, C. Eddy, M. Edwards, E. Edwards, J. Edwardson, R. Eeles, I. Ellis, F. Elmslie, G. Evans, B. Gibbons, C. Gardiner, N. Ghali, C. Giblin, S. Gibson, S. Goff, S. Goodman, D. Goudie, J. Grier, H. Gregory, S. Halliday, R. Hardy, C. Hartigan, T. Heaton, C. Higgins, S. Hodgson, T. Homfray, D. Horrigan, C. Houghton, L. Hughes, V. Hunt, L. Irvine, C. Jacobs, S. James, M. James, L. Jeffers, I. Jobson, W. Jones, M.J. Kennedy, S. Kenwrick, C. Kightley, C. Kirk, E. Kirk, E. Kivuva, K. Kohut, M. Kosicka-Slawinska, A. Kulkarni, N. Lambord, C. Langman, P. Leonard, S. Levene, S. Locker, P. Logan, M. Longmuir, A. Lucassen, V. Lyus, A. Magee, A. Male, S. Mansour, D. McBride, E. McCann, V. McConnell, M. McEntagart, C. McKeown, L. McLeish, D. McLeod, A. Melville, L. Mercer, C. Mercer, A. Mitra, V. Murday, A. Murray, K. Myhill, J. Myring, E. O'Hara, P. Pearson, G. Pichert, K. Platt, C. Pottinger, S. Price, L. Protheroe, S. Pugh, O. Quarrell, K. Randhawa, C. Riddick, L. Robertson, A. Robinson, V. Roffey-Johnson, M. Rogers, S. Rose, S. Rowe, A. Schofield, N. Rahman, S. Saya, G. Scott, J. Scott, A. Searle, S. Shanley, S. Sharif, A. Shaw, J. Shaw, J. Shea-Simonds, L. Side, J. Sillibourne, K. Simon, S. Simpson, S. Slater, S. Smalley, K. Smith, L. Snadden, J. Soloway, Y. Stait, B. Stayner, M. Steel, C. Steel, H. Stewart, D. Stirling, M. Thomas, S. Thomas, S. Tomkins, H. Turner, A. Vandersteen, E. Wakeling, F. Waldrup, C. Watt, S. Watts, A. Webber, C. Whyte, J. Wiggins, E. Williams, L. Winchester
المصدر: Breast and Ovarian Cancer Susceptibility Collaboration, Loveday, C, Law, P, Hanks, S, Poyastro-Pearson, E, Adlard, J W, Barwell, J, Berg, J, Brady, A F, Donaldson, A, Douglas, F, Greenhalgh, L, Izatt, L, Lalloo, F, Miedzybrodzka, Z, Morrison, P J, Porteous, M, Eccles, D, Evans, D G, Snape, K, Houlston, R S, Hanson, H, Turnbull, C, Rogers, M T, Walker, L, Brewer, C, Paterson, J, Kumar, A, Davidson, R, Chapman, C & Cook, J 2022, ' Analysis of rare disruptive germline mutations in 2135 enriched BRCA-negative breast cancers excludes additional high-impact susceptibility genes ', Annals of oncology : official journal of the European Society for Medical Oncology, vol. 33, no. 12, pp. 1318-1327 . https://doi.org/10.1016Test/j.annonc.2022.09.152
Breast and Ovarian Cancer Susceptibility Collaboration, Loveday, C, Garrett, A, Law, P, Hanks, S, Poyastro-Pearson, E, Adlard, J W, Barwell, J, Berg, J, Brady, A F, Brewer, C, Chapman, C, Cook, J, Davidson, R, Donaldson, A, Douglas, F, Greenhalgh, L, Henderson, A, Izatt, L, Kumar, A, Lalloo, F, Miedzybrodzka, Z, Morrison, P J, Paterson, J, Porteous, M, Rogers, M T, Walker, L, Eccles, D, Evans, D G, Snape, K, Hanson, H, Houlston, R S & Turnbull, C 2022, ' Analysis of rare disruptive germline mutations in 2,135 enriched BRCA-negative breast cancers excludes additional high-impact susceptibility genes ', Annals of oncology : official journal of the European Society for Medical Oncology, vol. 33, no. 12, pp. 1318-1327 . https://doi.org/10.1016Test/j.annonc.2022.09.152مصطلحات موضوعية: Adult, Ovarian Neoplasms, rare-variant burden testing, Whole exome sequencing, Breast Neoplasms, Triple Negative Breast Neoplasms, Hematology, breast cancer, SDG 3 - Good Health and Well-being, Oncology, Humans, Female, Genetic Predisposition to Disease, cancer susceptibility genes, whole-exome sequencing, Rare variant burden testing, Germ-Line Mutation, Retrospective Studies, genetic susceptibility
وصف الملف: application/pdf; text
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6986764441617a144e724063e762ecfTest
https://research.manchester.ac.uk/en/publications/2e088aaa-ff70-4a90-af9a-d3d781a5a2adTest -
2
المؤلفون: JM Lancaster, ME Carney, J Gray, J Myring, C Gumbs, J Sampson, D Wheeler, E France, R Wiseman, P Harper, PA Futreal
المصدر: British Journal of Cancer
مصطلحات موضوعية: Adult, Cancer Research, endocrine system diseases, Tumor suppressor gene, Population, Genes, BRCA1, Breast Neoplasms, Biology, medicine.disease_cause, Frameshift mutation, Breast cancer, Neoplastic Syndromes, Hereditary, medicine, Humans, Genes, Tumor Suppressor, Mutation frequency, Frameshift Mutation, skin and connective tissue diseases, education, BRCA2 Protein, Ovarian Neoplasms, Genetics, Mutation, education.field_of_study, Wales, medicine.disease, Neoplasm Proteins, Oncology, Female, Ovarian cancer, Research Article, Transcription Factors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4528104ce6f5217efb5fb31174462188Test
https://doi.org/10.1038/bjc.1998.701Test -
3
المؤلفون: Wendy J. Myring, K. Sylvia Richards
المصدر: Journal of Zoology. 221:683-687
مصطلحات موضوعية: Microscopy, Scanning confocal electron microscopy, X-ray, Analytical chemistry, Animal Science and Zoology, Biology, Ecology, Evolution, Behavior and Systematics
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::da8a30edd1729dbb89878e4cb46670e1Test
https://doi.org/10.1111Test/j .1469-7998.1990.tb04024.x -
4
المؤلفون: K. Brain, J. Gray, P. Norman, E. France, C. Anglim, G. Barton, E. Parsons, A. Clarke, H. Sweetland, M. Tischkowitz, J. Myring, K. Stansfield, D. Webster, K. Gower-Thomas, R. Daoud, C. Gateley, I. Monypenny, H. Singhal, L. Branston, J. Sampson, E. Roberts, R. Newcombe, D. Cohen, C. Rogers, R. Mansel, P. Harper
المصدر: Journal of the National Cancer Institute. 92(16)
مصطلحات موضوعية: Adult, Risk, Cancer Research, medicine.medical_specialty, Cost-Benefit Analysis, Breast Neoplasms, Anxiety, law.invention, Indirect costs, Breast cancer, Randomized controlled trial, law, Epidemiology, medicine, Humans, Genetic Testing, Prospective Studies, Risk factor, Family history, Genetic testing, Gynecology, Patient Care Team, Wales, medicine.diagnostic_test, business.industry, Middle Aged, medicine.disease, Oncology, Patient Satisfaction, Family medicine, Female, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7b5998b3fc409945954476ad2e96071Test
https://pubmed.ncbi.nlm.nih.gov/11208894Test -
5دورية أكاديمية
المؤلفون: Jm Lancaster, Me Carney, J Gray, J Myring, C Gumbs, J Sampson, D Wheeler, E France, R Wiseman, P Harper, Pa Futreall
المساهمون: The Pennsylvania State University CiteSeerX Archives
المصدر: ftp://ftp.ncbi.nlm.nih.gov/pub/pmc/55/2a/Br_J_Cancer_1998_Dec_78(11)_1417-1420.tar.gz
مصطلحات موضوعية: BRCA 1, BRCA2t breast and ovarian cancer, Wales
وصف الملف: application/zip
-
6
المؤلفون: P S Harper, H G Harley, D J Shaw, J Myring, S A Rundle, W Reardon, J.C. MacMillan, L Beck
المصدر: The British journal of ophthalmology. 77(9)
مصطلحات موضوعية: Adult, Genetic Markers, Male, Pathology, medicine.medical_specialty, Bioinformatics, Myotonic dystrophy, Cataract, Cellular and Molecular Neuroscience, medicine, Humans, Myotonic Dystrophy, Genetic Testing, Genetic testing, Aged, Family Health, Unstable DNA Sequence, medicine.diagnostic_test, business.industry, DNA, Myotonia, medicine.disease, Sensory Systems, Molecular analysis, Pedigree, Ophthalmology, Adult life, Anticipation (genetics), Mutation (genetic algorithm), Female, business, Research Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46d6b3e23f56b83e05143302d8ecfa8aTest
https://pubmed.ncbi.nlm.nih.gov/8218057Test -
7
المؤلفون: H G, Harley, S A, Rundle, J C, MacMillan, J, Myring, J D, Brook, S, Crow, W, Reardon, I, Fenton, D J, Shaw, P S, Harper
المصدر: American journal of human genetics. 52(6)
مصطلحات موضوعية: Adult, Male, Parents, Aging, Adolescent, DNA Mutational Analysis, Infant, Newborn, Infant, Middle Aged, Phenotype, Child, Preschool, Humans, Myotonic Dystrophy, Female, Child, Repetitive Sequences, Nucleic Acid, Research Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::9bdc03e2ef422ebf30d292bf032be39eTest
https://pubmed.ncbi.nlm.nih.gov/8503448Test -
8
المؤلفون: L. P. Lazarou, A L Meredith, J Myring, Peter S. Harper, J L Floyd, W Reardon
المصدر: American journal of medical genetics. 43(6)
مصطلحات موضوعية: Adult, Genetic Markers, Male, Pediatrics, medicine.medical_specialty, Adolescent, Genotype, Genetic Linkage, Prenatal diagnosis, Physical examination, Asymptomatic, Myotonic dystrophy, Pregnancy, Prenatal Diagnosis, medicine, Humans, Myotonic Dystrophy, Muscular dystrophy, Predictive testing, Genetics (clinical), Genetics, medicine.diagnostic_test, business.industry, DNA, Middle Aged, medicine.disease, Myotonia, Pedigree, Phenotype, Female, medicine.symptom, business, Chromosomes, Human, Pair 19
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::949bdb3f381a5ffe3824e08e49d71700Test
https://pubmed.ncbi.nlm.nih.gov/1415325Test -
9
المؤلفون: David A. Shaw, Yehudi K. Levine, Wendy J. Myring, C. J. R. van der Oord, Ian H. Munro, Fokko F.G. Rommerts, Hans C. Gerritsen
المصدر: SPIE Proceedings.
مصطلحات موضوعية: Microscope, Materials science, business.industry, Confocal, Synchrotron Radiation Source, Synchrotron radiation, Laser, Fluorescence, law.invention, Optics, law, Confocal microscopy, Optoelectronics, business, Luminescence
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::70824ade53600338fbd2f0920b34805cTest
https://doi.org/10.1117/12.58271Test -
10
المؤلفون: Peter S. Harper, J Myring, D.J. Shaw, J.C. MacMillan, H G Harley, W Reardon
المصدر: Neuromuscular disorders : NMD. 2(5-6)
مصطلحات موضوعية: Adult, Male, DNA Mutational Analysis, Myotonic dystrophy, Polymerase Chain Reaction, Medicine, Humans, Myotonic Dystrophy, Pcr analysis, Genetics (clinical), Sequence (medicine), Aged, Genetics, Ctg repeat, business.industry, Hybridization probe, Infant, Newborn, Diagnostic test, Neuromuscular Diseases, Middle Aged, medicine.disease, Molecular analysis, Neurology, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), Mutation, Female, Neurology (clinical), business, Polymorphism, Restriction Fragment Length
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aab99be4119179cce984cf858f880da3Test
https://pubmed.ncbi.nlm.nih.gov/1363747Test