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1
المؤلفون: S. Ceulemans, B. Strike, R.R. Kaldate, M. Landon, Lynn Anne Burbidge, B. Roa, D.S. Saraiya, B. Abbott, C. Arnell, J.Q. Ji, A. Theisen, P.H. Fernandes, K. Moyes
المصدر: Clinical Genetics. 87:368-372
مصطلحات موضوعية: Male, Molecular Sequence Data, Genes, Recessive, Biology, DNA Glycosylases, Cohort Studies, Genotype-phenotype distinction, MUTYH, Genetics, medicine, Humans, Genetics (clinical), Retrospective Studies, Genetic testing, Base Sequence, medicine.diagnostic_test, Intestinal Polyposis, Genetic Carrier Screening, MUTYH-Associated Polyposis, Retrospective cohort study, Sequence Analysis, DNA, Founder Effect, Mutation, Mutation (genetic algorithm), Mutation testing, Female, Founder effect
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2
المؤلفون: K. Moyes, J.M. Eggington, Dmitry Pruss, E.T. Rosenthal, A. Theisen, C. Arnell, K.R. Bowles, S. Sizemore, Richard J. Wenstrup, J. Bennett, B. Roa, J. Saam, Lynn Anne Burbidge, L. Esterling, S. Manley
المصدر: Clinical Genetics. 86:229-237
مصطلحات موضوعية: medicine.diagnostic_test, Computer science, Pathogenic mutation, Genes, BRCA2, Genes, BRCA1, Genetic Variation, Computational biology, Disease, Classification, Bioinformatics, Databases, Genetic, Genetic variation, Genetics, medicine, Humans, Clinical significance, Hereditary Cancer, Gene, Uncertain significance, Algorithms, Genetics (clinical), Genes, Neoplasm, Genetic testing
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3
المؤلفون: Jeffrey T. Trost, Eric Rosenthal, Benjamin B. Roa, Richard J. Wenstrup, Jeremy Schoenberger, Christopher Arnell, Thaddeus Judkins, Wade Geary, Toby Barrus, Lynn Anne Burbidge
المصدر: Cancer
مصطلحات موضوعية: Oncology, Cancer Research, medicine.medical_specialty, Pathology, BRCA2 gene, Genes, BRCA2, gene rearrangement, Genes, BRCA1, Breast Neoplasms, DNA sequencing, Translocation, Genetic, symbols.namesake, BRCA1 gene, Breast cancer, Risk Factors, Internal medicine, medicine, Humans, Clinical significance, Mutation frequency, Sanger sequencing, Ovarian Neoplasms, business.industry, Gene rearrangement, Original Articles, Sequence Analysis, DNA, medicine.disease, Penetrance, mutation frequency, hereditary breast and ovarian cancer syndrome, Mutation, symbols, Female, business, Ovarian cancer
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4
المؤلفون: E. Francis Cook, Ewout W. Steyerberg, Shilpa Grover, Lynn Anne Burbidge, Richard J. Wenstrup, Sapna Syngal, Akriti Dewanwala, Fay Kastrinos
المساهمون: Public Health
المصدر: JAMA-Journal of the American Medical Association, 308(5), 485-492. American Medical Association
مصطلحات موضوعية: Mutation, medicine.medical_specialty, Pathology, medicine.diagnostic_test, Adenoma, biology, Colorectal cancer, business.industry, Adenomatous polyposis coli, Context (language use), General Medicine, medicine.disease_cause, medicine.disease, Gastroenterology, Germline mutation, MUTYH, Internal medicine, medicine, biology.protein, business, Genetic testing
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5
المؤلفون: Lynn Anne Burbidge, Michael J. Hall, Walter W. Noll, Richard J. Wenstrup, Thomas Scholl, Julia Reid, Dmitry Pruss, Cynthia Frye, Amie M. Deffenbaugh, Brian E. Ward
المصدر: Cancer. 115:2222-2233
مصطلحات موضوعية: Breast ovarian cancer, Oncology, Gynecology, Cancer Research, medicine.medical_specialty, Mutation, endocrine system diseases, medicine.diagnostic_test, business.industry, Ethnic group, Cancer, medicine.disease, medicine.disease_cause, Breast cancer, Internal medicine, medicine, Breast disease, skin and connective tissue diseases, business, Ovarian cancer, Genetic testing
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6
المؤلفون: Amanda B. Spurdle, Andrea Tesoriero, Ross I. Brinkworth, Amie M. Deffenbaugh, Sunil R. Lakhani, Margaret C. Cummings, Sue Healey, Melissa C. Southey, Paul Waring, Tom Scholl, Thad Judkins, Melissa A. Brown, David E. Goldgar, Paul K. Lovelock, Anna Marsh, Georgia Chenevix-Trench, Douglas F. Easton, Dmitry Pruss, Ming Wong, John L. Hopper, Anna Bekessy, Koulis Yannoukakos, Sean V. Tavtigian, Lynn Anne Burbidge, Helene Renard
المصدر: Cancer Research. 66:2019-2027
مصطلحات موضوعية: Cancer Research, endocrine system diseases, In silico, Genetic counseling, Genes, BRCA2, Genes, BRCA1, Mutation, Missense, Loss of Heterozygosity, Breast Neoplasms, Biology, medicine.disease_cause, Loss of heterozygosity, medicine, Humans, Missense mutation, Allele, skin and connective tissue diseases, Gene, Alleles, Genetics, Mutation, Base Sequence, Models, Genetic, DNA, Neoplasm, Middle Aged, Immunohistochemistry, Oncology, Female, Common disease-common variant
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7
المؤلفون: Elena M. Stoffel, Lynn Anne Burbidge, David H. Stockwell, Brant C. Hendrickson, John Tazelaar, Ewout W. Steyerberg, Amie M. Deffenbaugh, Thomas Scholl, J. Balmaña, Sapna Syngal, Julia Reid, Brian E. Ward
المساهمون: Public Health
المصدر: JAMA-Journal of the American Medical Association, 296(12), 1469-1478. American Medical Association
مصطلحات موضوعية: Proband, Oncology, Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Pathology, Adolescent, Cohort Studies, Internal medicine, medicine, Humans, Genetic Testing, Family history, neoplasms, Genetic testing, Adaptor Proteins, Signal Transducing, Aged, Probability, Aged, 80 and over, Internet, Likelihood Functions, Models, Statistical, medicine.diagnostic_test, business.industry, Endometrial cancer, nutritional and metabolic diseases, Nuclear Proteins, General Medicine, Middle Aged, medicine.disease, Colorectal Neoplasms, Hereditary Nonpolyposis, digestive system diseases, Lynch syndrome, Logistic Models, MutS Homolog 2 Protein, MSH2, Cohort, Multivariate Analysis, Mutation, Female, business, Carrier Proteins, MutL Protein Homolog 1, Cohort study
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8
المؤلفون: Fay Kastrinos, Rowena Mercado, Judith Balmaña, Sapna Syngal, James M. Church, Kimberly D. Siegmund, Richard J. Wenstrup, Ewout W. Steyerberg, Lynn Anne Burbidge, Mark A. Jenkins, Spring Holter, Stephen N. Thibodeau, Steven Gallinger, Noralane M. Lindor
المساهمون: Public Health
المصدر: Gastroenterology, 140(1), 73-+. W.B. Saunders
مصطلحات موضوعية: Adult, Male, Risk, Oncology, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Population, Biology, Gene mutation, Bioinformatics, DNA Mismatch Repair, Cohort Studies, Germline mutation, SDG 3 - Good Health and Well-being, Neoplasms, Internal medicine, medicine, Humans, Genetic Predisposition to Disease, Genetic Testing, Family history, education, neoplasms, Germ-Line Mutation, Adaptor Proteins, Signal Transducing, education.field_of_study, Models, Genetic, Hepatology, Gastroenterology, Nuclear Proteins, nutritional and metabolic diseases, Cancer, Odds ratio, Middle Aged, medicine.disease, digestive system diseases, Lynch syndrome, Endometrial Neoplasms, Pedigree, DNA-Binding Proteins, Logistic Models, MutS Homolog 2 Protein, MSH2, Female, Colorectal Neoplasms, MutL Protein Homolog 1
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9
المؤلفون: Benoît Leclair, Kristin Pyne, Kristilyn Eliason, Thaddeus Judkins, Amie E. Deffenbaugh, Brian E. Ward, Brant C. Hendrickson, Thomas Scholl, Lynn Anne Burbidge, Benjamin D. Ward
المصدر: Genes, chromosomescancer. 43(3)
مصطلحات موضوعية: Cancer Research, Genes, BRCA1, Breast Neoplasms, Biology, medicine.disease_cause, Exon, Reference Values, Gene duplication, Multiplex polymerase chain reaction, Genetics, medicine, Ethnicity, Humans, Gene, Genetic testing, Sequence Deletion, Gene Rearrangement, Ovarian Neoplasms, Mutation, medicine.diagnostic_test, Racial Groups, Gene Amplification, Gene rearrangement, Exons, medicine.disease, Female, Ovarian cancer
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10
المؤلفون: Brian L. Abbott, Kelsey Moyes, Rajesh R. Kaldate, Michelle Landon, Kayon Williams, Jennifer Saam, Christopher Arnell, Brian Strike, Lynn Anne Burbidge
المصدر: Journal of Clinical Oncology. 32:1542-1542
مصطلحات موضوعية: Oncology, Cancer Research, medicine.medical_specialty, medicine.diagnostic_test, business.industry, Cancer, Second cancer, medicine.disease, Lynch syndrome, Hereditary Cancer Syndromes, Internal medicine, medicine, Ovarian cancer, business, Genetic testing
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11
المؤلفون: Rajesh R. Kaldate, Sophia Ceulemans, Brian L. Abbott, Christopher Arnell, Lynn Anne Burbidge, Michelle Landon
المصدر: Journal of Clinical Oncology. 31:343-343
مصطلحات موضوعية: Genetics, Cancer Research, medicine.diagnostic_test, business.industry, Cancer, Base excision repair, medicine.disease, DNA sequencing, Oncology, MUTYH, Cohort, Medicine, business, Founder mutation, Gene, Genetic testing
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12
المؤلفون: Benjamin B. Roa, C. A. Frye, M. Martin, Richard J. Wenstrup, Lynn Anne Burbidge
المصدر: Journal of Clinical Oncology. 26:11097-11097
مصطلحات موضوعية: Genetics, congenital, hereditary, and neonatal diseases and abnormalities, Cancer Research, business.industry, nutritional and metabolic diseases, Large series, medicine.disease, MLH1, digestive system diseases, Lynch syndrome, MSH6, Oncology, MSH2, Mutation (genetic algorithm), medicine, business, neoplasms
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13
المؤلفون: Saradha Rajamani, Amie M. Deffenbaugh, Richard J. Wenstrup, Benjamin B. Roa, C. A. Frye, Jeffrey T. Trost, Lynn Anne Burbidge, Jeremy Schoenberger, K. Eliason, Thaddeus Judkins
المصدر: Journal of Clinical Oncology. 25:10513-10513
مصطلحات موضوعية: Genetics, Cancer Research, Oncology, Sequence analysis, business.industry, Molecular genetic testing, Gene duplication, medicine, skin and connective tissue diseases, Ovarian cancer, medicine.disease, business, Gene
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14
المؤلفون: J. P. Tazelaar, W. W. Noll, Lynn Anne Burbidge, Thomas Scholl, Nadeem Tusneem, T. E. Spackman
المصدر: Journal of Clinical Oncology. 23:9514-9514
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Cancer Research, Colorectal cancer, nutritional and metabolic diseases, Biology, medicine.disease, MLH1, Molecular biology, digestive system diseases, Cancer syndrome, Restriction enzyme, Exon, Oncology, MSH2, medicine, DNA mismatch repair, neoplasms, Southern blot
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15Academic Journal
المؤلفون: Brant C. Hendrickson, Thaddeus Judkins, Benjamin D. Ward, Kristilyn Eliason, Amie E. Deffenbaugh, Lynn Anne Burbidge, Kristin Pyne, Benot Leclair, Brian E. Ward, Thomas Scholl
المصدر: Genes, Chromosomes & Cancer; Jul2005, Vol. 43 Issue 3, p309-313, 5p