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1دورية أكاديمية
المؤلفون: Timothy Simmons, Elisha Hughes, Dmitry Pruss, Matthew Kucera, Benjamin Roa, Thaddeus Judkins, Thomas Slavin, Victor Abkevich, Ryan Hoff, Srikanth Jammulapati, Susanne Wagner, Dale Muzzey, Jerry Lanchbury, Alexander Gutin
المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 100945- (2024)
وصف الملف: electronic resource
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المؤلفون: Susanne Wagner, K Bulka, Dmitry Pruss, T Perry, Srikanth Jammulapati, R Hoff, Elisha Hughes, Shannon Gallagher, Jerry S. Lanchbury, Alexander Gutin, Brad Swedlund, Brian Morris
المصدر: Cancer Research. 79:P5-10
مصطلحات موضوعية: 0301 basic medicine, Oncology, Cancer Research, medicine.medical_specialty, education.field_of_study, Family Cancer History, business.industry, Population, Cancer, medicine.disease, Residual risk, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Breast cancer, 030220 oncology & carcinogenesis, Internal medicine, Cohort, medicine, business, education, Risk assessment, CHEK2
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::89b8861ecddcec86d6871b2d4e5ad536
https://doi.org/10.1158/1538-7445.sabcs18-p5-10-02 -
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المؤلفون: Dominic P. Williams, Thanh Tran, Mark S. Carey, Diana Iliev, Lisa M. Fitzgerald, Thomas C. Krivak, Jian Chen, Bryan T. Hennessy, Jennifer Potter, Karen Smith-McCune, Karen H. Lu, Victor Abkevich, Kirsten Timms, Jerry S. Lanchbury, Julie A. DeLoia, Srikanth Jammulapati, Alexander Gutin, Gordon B. Mills, Larissa A. Meyer, Russell Broaddus
المصدر: British Journal of Cancer
مصطلحات موضوعية: Adult, Cancer Research, endocrine system diseases, Colorectal cancer, Loss of Heterozygosity, Carcinoma, Ovarian Epithelial, Biology, Genetics & Genomics, Disease-Free Survival, Cohort Studies, Loss of heterozygosity, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Cell Line, Tumor, medicine, Humans, DNA Breaks, Double-Stranded, Neoplasms, Glandular and Epithelial, skin and connective tissue diseases, Rucaparib, Aged, 030304 developmental biology, Aged, 80 and over, BRCA2 Protein, Ovarian Neoplasms, Genetics, 0303 health sciences, Oncogene, BRCA1 Protein, Recombinational DNA Repair, DNA double-strand break repair, Middle Aged, medicine.disease, female genital diseases and pregnancy complications, 3. Good health, DNA-Binding Proteins, ovarian cancer, Oncology, chemistry, homologous recombination deficiency, 030220 oncology & carcinogenesis, Cancer cell, Cancer research, Female, Homologous recombination, Ovarian cancer
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المؤلفون: Mark Bastian, Jian Chen, James McCulloch, Thanh Tran, J.T. Mitchell, Karla R. Bowles, Natalia Gutin, Srikanth Jammulapati, Deborah Williams, Jeffrey T. Trost, Bryan Wardell, Kirsten Timms, Adam Murray, Jonathan Craft, Jennifer Potter, Benoît Leclair, Michael C. Perry, Benjamin B. Roa, Brian Morris, Thaddeus Judkins, Satish Bhatnagar
المصدر: BMC Cancer
مصطلحات موضوعية: Risk, Cancer Research, Genes, BRCA2, Genes, BRCA1, Genomics, Biology, Sensitivity and Specificity, DNA sequencing, symbols.namesake, Germline mutation, Neoplastic Syndromes, Hereditary, Next generation sequencing, Genetics, medicine, Humans, Genetic Predisposition to Disease, Multiplex, Genetic Testing, Multiplex ligation-dependent probe amplification, Germ-Line Mutation, Genetic testing, Sanger sequencing, Comparative Genomic Hybridization, medicine.diagnostic_test, Computational Biology, High-Throughput Nucleotide Sequencing, Reproducibility of Results, BRCA1, BRCA2, Hereditary cancer, Technical Advance, Oncology, Mutation, symbols, Comparative genomic hybridization
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المؤلفون: Georges C. Frech, Deborah Trem, Ted D. Adams, David A. Frank, Victor Abkevich, Kirsten Timms, Gongping He, Robyn Riley, Srikanth Jammulapati, Steven C. Hunt, Donna Shattuck, Deanna L. Russell, Jerry S. Lanchbury, Richard E. Gress, Mark H. Skolnick, Chris Neff, Thanh Tran, Diana Iliev, Alexander Gutin, Steven Stone
المصدر: Human Molecular Genetics. 15:2709-2720
مصطلحات موضوعية: Male, Gene Expression, Locus (genetics), Pedigree chart, Disease, Biology, Polymorphism, Single Nucleotide, Linkage Disequilibrium, Gene interaction, Proto-Oncogene Proteins, Endopeptidases, Genetic variation, Genetics, medicine, Humans, Tissue Distribution, Obesity, RNA, Messenger, Molecular Biology, Gene, Genetics (clinical), Oncogene Proteins, Genetic Variation, TBC1D1, General Medicine, medicine.disease, Pedigree, Phenotype, Haplotypes, Female, Chromosomes, Human, Pair 4, Lod Score, Ubiquitin Thiolesterase
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a298fac8dc76b060f2aa3617cc6e00e6
https://doi.org/10.1093/hmg/ddl204 -
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المؤلفون: Paul N. Hopkins, Srikanth Jammulapati, Steve C. Hunt, Kirsten Timms, Mark E. Samuels, Howard Goldfine, Donna Shattuck, Kristian C. Forbey, Mark H. Skolnick, Susanne Wagner
المصدر: Human Genetics. 114:349-353
مصطلحات موضوعية: Male, Heterozygote, Apolipoprotein B, Mutation, Missense, Pedigree chart, Familial hypercholesterolemia, Hyperlipoproteinemia Type II, Utah, Genetics, medicine, Humans, Point Mutation, Missense mutation, Gene, Genetics (clinical), Genes, Dominant, biology, Serine Endopeptidases, Haplotype, medicine.disease, Pedigree, Phenotype, Haplotypes, Mutation (genetic algorithm), biology.protein, Microsatellite, Female, Proprotein Convertases, Lod Score, Proprotein Convertase 9
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المؤلفون: H. Mark Skolnick, D. Ted Adams, Thanh Tran, Srikanth Jammulapati, Charles H. Hensel, Brian T. Bloomquist, Steven C. Hunt, Richard E. Gress, Robyn Riley, Drew Gibbs, Chris Neff, Victor Abkevich, Alexander Gutin, Donna Shattuck, Jennifer Potter, Deanna L. Russell, M.M. Peter Rae, David Sexton, Steven Stone, Georges C. Frech, Diana Iliev, John Amatruda
المصدر: The American Journal of Human Genetics. 70:1459-1468
مصطلحات موضوعية: Genetic Markers, Male, Genotype, Population, Genes, Recessive, Locus (genetics), Pedigree chart, Biology, Genetic determinism, Body Mass Index, Utah, Genetics, Genetic predisposition, medicine, Humans, Genetics(clinical), Genetic Predisposition to Disease, Obesity, education, Genetics (clinical), Genes, Dominant, Sex Characteristics, education.field_of_study, Genome, Human, Chromosome Mapping, Articles, medicine.disease, Pedigree, Phenotype, Genetic marker, Female, Chromosomes, Human, Pair 4, Lod Score
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المؤلفون: Russell Bell, Fernand Labrie, Jodi Mcarthur-Morrison, S.C. Snyder, Robert Kehrer, Linda Steele, Thaylon Davis, K. Nguyen, Martine Dumont, J.T. Mitchell, Alun Thomas, Teresa Janecki, Mark H. Skolnick, Lisa A. Cannon-Albright, M. Stringfellow, Chantal Samson, David H. F. Teng, Alexander Kamb, T. Hattier, Barbara L. Weber, Sofia D. Merajver, Dominique Stoppa-Lyonnet, Hiroaki Shizuya, David E. Goldgar, Marianne Schroeder, T.D. Tran, Ping Jiang, Carole Bélanger, Jorunn E. Eyfjord, Simin Berry, Jacques Simard, J.-F. Leblanc, Martine Tranchant, Steinunn Thorlacius, Qian Chen, Robert Bogden, Yi Peng, Jane Weaver-Feldhaus, Sean V. Tavtigian, Fergus J. Couch, Cheryl Frye, Johanna M. Rommens, Alexander K. C. Wong, Srikanth Jammulapati, C. Stroup, Bradley D. Swedlund, Susan L. Neuhausen, Donna M Shattuck-Eidens, Kenneth Offit, J. Swense
المصدر: Nature Genetics. 12:333-337
مصطلحات موضوعية: Male, endocrine system diseases, Positional cloning, Genetic Linkage, Molecular Sequence Data, Gene Expression, Biology, Polymerase Chain Reaction, Breast Neoplasms, Male, Cell Line, Gene mapping, Genetic linkage, Genetics, Humans, Coding region, Cloning, Molecular, skin and connective tissue diseases, Gene, DNA Primers, Sequence Deletion, BRCA2 Protein, Ovarian Neoplasms, Polymorphism, Genetic, Base Sequence, Chromosomes, Human, Pair 13, Exons, Neoplasm Proteins, Chromosome 17 (human), GenBank, Mutation, Female, Transcription Factors
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2ed0a2178f423da973579178b301888
https://doi.org/10.1038/ng0396-333 -
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المؤلفون: Jane Weaver-Feldhaus, Srikanth Jammulapati, Donna Shattuck, Alun Thomas, Charles H. Hensel, Robyn Riley, Richard E. Gress, Victor Abkevich, Alexander Gutin, Deanna L. Russell, Tess Macalma, Mike Francis, Steven C. Hunt, Xiankang Hong, Maria Matthews Richards, Chris Neff, Steven Stone, Ted D. Adams, Thanh Tran, Georges C. Frech
المصدر: Human genetics. 109(3)
مصطلحات موضوعية: Genetic Markers, Male, Genotype, Genetic Linkage, Centromere, Chromosomes, Human, Pair 20, Locus (genetics), Pedigree chart, Genes, Recessive, Biology, Body Mass Index, Genetic linkage, Utah, Genetics, Humans, Obesity, Gene, Genetics (clinical), Genes, Dominant, Models, Genetic, Human genetics, Pedigree, Phenotype, Genetic marker, Female, Chromosome 20, Lod Score
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المؤلفون: Russell Bell, Mark H. Skolnick, Srikanth Jammulapati, Michelle Baumgard, Kenneth Offit, J.T. Mitchell, Alexander K. C. Wong, Simin Berry, Robert Kehrer, David H.-R Teng, Phuong C. Ha, Sean V. Tavtigian, Brad Swedlund, Thaylon Davis, Alexander Kamb, Qian Chen, Suresh C. Jhanwar, Robert Bogden
المصدر: Nature genetics. 13(2)
مصطلحات موضوعية: Heterozygote, endocrine system diseases, Tumor suppressor gene, Molecular Sequence Data, Breast Neoplasms, Biology, Polymerase Chain Reaction, Breast cancer, Germline mutation, Pancreatic cancer, Neoplasms, Genetics, medicine, Tumor Cells, Cultured, Humans, skin and connective tissue diseases, BRCA2 Protein, Base Sequence, Incidence, Carcinoma, Cancer, Sequence Analysis, DNA, medicine.disease, Neoplasm Proteins, Gene Expression Regulation, Neoplastic, Pancreatic Neoplasms, Mutation, Cancer research, Female, Ovarian cancer, Breast carcinoma, Transcription Factors
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a717f4adbd79bec055cb01cda962cff8
https://pubmed.ncbi.nlm.nih.gov/8640236
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