المؤلفون: David E. Goldgar, Sophie Belman, Bing Jian Feng, Amanda B. Spurdle, Michael T. Parsons

المصدر: Genetics in Medicine. 22:2052-2059

مصطلحات موضوعية: 0301 basic medicine, education.field_of_study, medicine.medical_specialty, medicine.diagnostic_test, Cosegregation, Computer science, Population, Genomics, Bayes factor, Computational biology, 030105 genetics & heredity, Penetrance, 03 medical and health sciences, symbols.namesake, 030104 developmental biology, medicine, Mendelian inheritance, symbols, Medical genetics, education, Genetics (clinical), Genetic testing

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::2a129a0602a7b38340a9e49f5b0eb484Test
https://doi.org/10.1038/s41436-020-0920-4Test

المؤلفون: Sophie, Belman, Michael T, Parsons, Amanda B, Spurdle, David E, Goldgar, Bing-Jian, Feng

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 22(12)

مصطلحات موضوعية: Germ Cells, Virulence, Mutation, Genetic Variation, Humans, Bayes Theorem, Genetic Testing, Sequence Analysis, DNA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::d188e7ff039b74fa572029bffb9469a8Test
https://pubmed.ncbi.nlm.nih.gov/32773770Test

المؤلفون: Bing Jian Feng

المصدر: Human Mutation. 38:243-251

مصطلحات موضوعية: 0301 basic medicine, Phenocopy, Genetics, medicine.diagnostic_test, Pedigree chart, Computational biology, Biology, Penetrance, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Missing heritability problem, Quality Score, Mutation (genetic algorithm), medicine, Allele frequency, 030217 neurology & neurosurgery, Genetics (clinical), Genetic testing

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::511cccd206e494b3a9a3b27e910dc44dTest
https://doi.org/10.1002/humu.23158Test

المؤلفون: Margaret Akinhanmi, Brigette Tippin Davis, Priyanka Sharma, Drakoulis Yannoukakos, Eric C. Polley, Raymond Moore, David E. Goldgar, Peter A. Fasching, Jill S. Dolinsky, Abigail Thomas, Heli Nevanlinna, Judy Garber, Diana Eccles, Hiltrud Brauch, Andrew K. Godwin, Bing Jian Feng, Holly LaDuca, Angela Cox, Song Yao, Hermela Shimelis, Jie Na, Florentia Fostira, Steven N. Hart, Fergus J. Couch, Tina Pesaran, Amanda Ewart-Toland, Chunling Hu, Jenna Lilyquist, Irene Konstantopoulou

المساهمون: Doctoral Programme in Biomedicine, Department of Obstetrics and Gynecology, Clinicum

المصدر: JNCI Journal of the National Cancer Institute

مصطلحات موضوعية: 0301 basic medicine, Oncology, Male, Cancer Research, Triple Negative Breast Neoplasms, PHENOTYPE, 0302 clinical medicine, Gene Frequency, Risk Factors, Odds Ratio, CONFER SUSCEPTIBILITY, Age of Onset, Triple-negative breast cancer, medicine.diagnostic_test, WOMEN, Articles, Middle Aged, 3. Good health, 030220 oncology & carcinogenesis, SURVIVAL, Female, Adult, medicine.medical_specialty, PALB2, 3122 Cancers, OVARIAN-CANCER, 03 medical and health sciences, Young Adult, Breast cancer, Internal medicine, medicine, Biomarkers, Tumor, Humans, Genetic Predisposition to Disease, Genetic Testing, INHERITED MUTATIONS, Alleles, Genetic Association Studies, Genetic testing, REPAIR, Cancer prevention, business.industry, Case-control study, Cancer, Odds ratio, medicine.disease, 030104 developmental biology, Case-Control Studies, Mutation, business, Genome-Wide Association Study

وصف الملف: text; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb12160fb9f3ea88ca976366ab9061ccTest
https://eprints.soton.ac.uk/426063Test/

المؤلفون: Nathalie Forey, Sandrine McKay-Chopin, F. Le Calvez-Kelm, Irene L. Andrulis, Melissa C. Southey, Amanda Gammon, Fabienne Lesueur, David E. Goldgar, Sean V. Tavtigian, Nivonirina Robinot, Wendy Kohlmann, Andrew M. Paquette, Geoffroy Durand, Jason Gertz, Mia Hashibe, T. C. Francy, J. S. Rosenthal, Erin L. Young, Tu Nguyen-Dumont, A. W. Stark, Esther M. John, Javier Oliver, Maroulio Pertesi, Kimberly A. Kaphingst, John L. Hopper, Maxime Vallée, Catherine Voegele, Bing Jian Feng, Francesca Damiola

المصدر: Journal of Medical Genetics

مصطلحات موضوعية: 0301 basic medicine, Adult, Risk, Mutation, Missense, Single-nucleotide polymorphism, Breast Neoplasms, Polymorphism, Single Nucleotide, 03 medical and health sciences, 0302 clinical medicine, Breast cancer, Polymorphism (computer science), Genotype, medicine, Cancer Genetics, Genetics, Missense mutation, Humans, Genetic Predisposition to Disease, Clinical genetics, Genetic Testing, CHEK2, Genetics (clinical), Genetic testing, medicine.diagnostic_test, business.industry, Cancer: breast, Case-control study, Middle Aged, medicine.disease, 3. Good health, 030104 developmental biology, 030220 oncology & carcinogenesis, Case-Control Studies, Screening, Female, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b6ff5488840b1de5ee47b3c1ddede98Test
http://europepmc.org/articles/PMC4893078Test

المؤلفون: Heather Thorne, Bing Jian Feng, Igor V. Makunin, Jonathan Ellis, Melissa C. Southey, kConFab Investigators, Ian G. Campbell, Jun Li, David E. Goldgar, Huong Meeks, Sue Healey, Judy Kirk, David Clouston, Georgia Chenevix-Trench, Gillian Mitchell

المصدر: Journal of Medical Genetics. 53:34-42

مصطلحات موضوعية: Male, 0301 basic medicine, Genotype, PALB2, Genes, BRCA2, Genes, BRCA1, Biology, Bioinformatics, Article, 03 medical and health sciences, 0302 clinical medicine, Germline mutation, Breast cancer, Biomarkers, Tumor, Odds Ratio, Genetics, medicine, Humans, Genetic Predisposition to Disease, Genetic Testing, skin and connective tissue diseases, CHEK2, Genetic Association Studies, Germ-Line Mutation, Genetics (clinical), Genetic testing, Ovarian Neoplasms, Massive parallel sequencing, medicine.diagnostic_test, Computational Biology, High-Throughput Nucleotide Sequencing, Exons, medicine.disease, Pedigree, 030104 developmental biology, 030220 oncology & carcinogenesis, Mutation, Hereditary Breast and Ovarian Cancer Syndrome, Female, Ovarian cancer

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43d19eaae6d784d350863c11b21f0658Test
https://doi.org/10.1136/jmedgenet-2015-103452Test

المؤلفون: Abigail Thomas, Bing Jian Feng, Emily Hallberg, Chunling Hu, Tina Pesaran, Robert Huether, Fergus J. Couch, Rachel McFarland, Holly LaDuca, Raymond Moore, Jill S. Dolinsky, David E. Goldgar, Hermela Shimelis, Steven N. Hart, Jie Na, Eric C. Polley, Jenna Lilyquist, Elizabeth C. Chao

المصدر: JAMA Oncology. 3:1190

مصطلحات موضوعية: 0301 basic medicine, Oncology, Cancer Research, Cell Cycle Proteins, Ataxia Telangiectasia Mutated Proteins, 0302 clinical medicine, Risk Factors, Breast, skin and connective tissue diseases, Mismatch Repair Endonuclease PMS2, Ovarian Neoplasms, MRE11 Homologue Protein, Neurofibromin 1, medicine.diagnostic_test, Nuclear Proteins, Middle Aged, Fanconi Anemia Complementation Group Proteins, Acid Anhydride Hydrolases, DNA-Binding Proteins, MutS Homolog 2 Protein, Phenotype, 030220 oncology & carcinogenesis, Population study, Female, Fanconi Anemia Complementation Group N Protein, MutL Protein Homolog 1, RNA Helicases, Adult, medicine.medical_specialty, Ubiquitin-Protein Ligases, PALB2, Breast Neoplasms, MLH1, White People, Article, 03 medical and health sciences, Breast cancer, Internal medicine, medicine, Cyclin-Dependent Kinase Inhibitor p18, Humans, Genetic Predisposition to Disease, Genetic Testing, CHEK2, Cyclin-Dependent Kinase Inhibitor p16, Germ-Line Mutation, Genetic testing, business.industry, Tumor Suppressor Proteins, Cancer, medicine.disease, Checkpoint Kinase 2, DNA Repair Enzymes, 030104 developmental biology, Case-Control Studies, business, Ovarian cancer

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de7f0b8a965d3b2a4256befc5ad40e21Test
https://doi.org/10.1001/jamaoncol.2017.0424Test

المؤلفون: Luba M. Pardo, Aaron Isaacs, Alejandro Arias-Vásquez, Albert Hofman, Lonneke M. L. de Lau, Ben A. Oostra, Cornelia M. van Duijn, Yurii S. Aulchenko, Bing Jian Feng, Aida M. Bertoli-Avella, Fan Liu, Monique M.B. Breteler

المساهمون: Epidemiology, Neurology, Clinical Genetics

المصدر: Neuroscience Letters, 424, 1-5. Elsevier Ireland Ltd
Neuroscience Letters, 424, 1-5
Neuroscience Letters, 424, 1, pp. 1-5

مصطلحات موضوعية: Male, Oncology, Heterozygote, medicine.medical_specialty, Parkinson's disease, Genotype, Genetic Linkage, DNA Mutational Analysis, Population, Autophagy-Related Proteins, Cell Cycle Proteins, Polymorphism, Single Nucleotide, UBQLN1, Cohort Studies, Rotterdam Study, Degenerative disease, Cognitive neurosciences [UMCN 3.2], Alzheimer Disease, Polymorphism (computer science), Internal medicine, Perception and Action [DCN 1], medicine, Humans, SNP, Genetic Predisposition to Disease, Genetic Testing, Age of Onset, education, Adaptor Proteins, Signal Transducing, Aged, Netherlands, Brain Chemistry, education.field_of_study, General Neuroscience, Parkinson Disease, Middle Aged, medicine.disease, Logistic Models, Genetic defects of metabolism [UMCN 5.1], Female, Alzheimer's disease, Carrier Proteins, Cognition Disorders, Psychology, Functional Neurogenomics [DCN 2], Neuroscience

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b39e8da12b9b79dc10f84ef96fc31489Test
https://doi.org/10.1016/j.neulet.2007.07.015Test

المؤلفون: Li Xi Huang, Ping Huang, Andrew Collins, Xing Juan Yu, Wei Hua Jia, Yi Xin Zeng, Yin Yao Shugart, Bing Jian Feng, Qi Sheng Feng, Ming Hong Yao

المصدر: European Journal of Human Genetics. 13:248-252

مصطلحات موضوعية: Adult, Male, China, Multifactorial Inheritance, Adolescent, Nasopharyngeal neoplasm, Pedigree chart, Biology, Genetics, medicine, Humans, Genetic Predisposition to Disease, Genetic Testing, Nuclear family, Genetics (clinical), Aged, Genetic testing, medicine.diagnostic_test, Carcinoma, Nasopharyngeal Neoplasms, Complex segregation analysis, Middle Aged, medicine.disease, Major gene, Nasopharyngeal carcinoma, Female

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ebd2e50d40ec821788c1ea9d0eef927Test
https://doi.org/10.1038/sj.ejhg.5201305Test

المؤلفون: Mary B. Daly, Fabrice Odefrey, John L. Hopper, Andrew Lonie, Sean V. Tavtigian, Erin L. Young, Jun Li, Igor V. Makunin, Kayoko Tao, Hao Hu, Fleur Hammet, Graham G. Giles, Terrell C Roane, Jonathan Ellis, Russell Bell, Irene L. Andrulis, Nivonirina Robinot, Melissa C. Southey, Catherine Voegele, Carrie Snyder, Louise B. Thingholm, David E. Goldgar, Mary Beth Terry, Esther M. John, Daniel J. Park, Tu Nguyen-Dumont, Zhi Ling Teo, Shankaracharya, Henry T. Lynch, Bing Jian Feng, Saundra S. Buys, Fabienne Lesueur, Peter Devilee, Florence Le Calvez-Kelm, Helen Tsimiklis, Bernard J. Pope, Chad D. Huff

المصدر: Cancer Discovery, 4(7), 804-815

مصطلحات موضوعية: Oncology, Male, medicine.medical_specialty, Population, Breast Neoplasms, Cell Cycle Proteins, Biology, Bioinformatics, Breast cancer, Internal medicine, medicine, Humans, Exome, Genetic Predisposition to Disease, education, Exome sequencing, Genetic testing, education.field_of_study, medicine.diagnostic_test, Cancer, Family aggregation, Genetic Variation, High-Throughput Nucleotide Sequencing, Sequence Analysis, DNA, medicine.disease, Colorectal Neoplasms, Hereditary Nonpolyposis, Lynch syndrome, Pedigree, Case-Control Studies, Mutation, Female

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::234443dd802321aefd30efdffd0956d7Test
https://pubmed.ncbi.nlm.nih.gov/25002613Test