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1Academic Journal
المؤلفون: Romy Walker, Khalid Mahmood, Julia Como, Mark Clendenning, Jihoon E. Joo, Peter Georgeson, Sharelle Joseland, Susan G. Preston, Bernard J. Pope, James M. Chan, Rachel Austin, Jasmina Bojadzieva, Ainsley Campbell, Emma Edwards, Margaret Gleeson, Annabel Goodwin, Marion T. Harris, Emilia Ip, Judy Kirk, Julia Mansour, Helen Mar Fan, Cassandra Nichols, Nicholas Pachter, Abiramy Ragunathan, Allan Spigelman, Rachel Susman, Michael Christie, Mark A. Jenkins, Rish K. Pai, Christophe Rosty, Finlay A. Macrae, Ingrid M. Winship, Daniel D. Buchanan
المصدر: Cancers, Vol 15, Iss 4925, p 4925 (2023)
مصطلحات موضوعية: Lynch syndrome, DNA mismatch repair gene variant classification, DNA mismatch repair deficient crypts/glands, colorectal cancer, endometrial cancer, variant of uncertain significance, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
Relation: https://www.mdpi.com/2072-6694/15/20/4925; https://doaj.org/toc/2072-6694; https://doaj.org/article/365fa317084546c48c22bf8661df7f94
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المؤلفون: Wenyi Wang, Louise C. Strong, Jing Ning, Christopher I. Amos, Xianhua Kong, Jingxiao Chen, Jasmina Bojadzieva, Fan Gao, Elissa B. Dodd-Eaton, Seung Jun Shin
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المؤلفون: Wenyi Wang, Louise C. Strong, David M. Thomas, Sharon A. Savage, Phuong L. Mai, Amanda L. Blackford, Jialu Li, Mandy L. Ballinger, Jasmina Bojadzieva, Gang Peng
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المؤلفون: Wenyi Wang, Louise C. Strong, Jing Ning, Christopher I. Amos, Xianhua Kong, Jingxiao Chen, Jasmina Bojadzieva, Fan Gao, Elissa B. Dodd-Eaton, Seung Jun Shin
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المؤلفون: Wenyi Wang, Louise C. Strong, Jing Ning, Christopher I. Amos, Xianhua Kong, Jingxiao Chen, Jasmina Bojadzieva, Fan Gao, Elissa B. Dodd-Eaton, Seung Jun Shin
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المؤلفون: Adam M. Bournazos, Lisa G. Riley, Shobhana Bommireddipalli, Lesley Ades, Lauren S. Akesson, Mohammad Al-Shinnag, Stephen I. Alexander, Alison D. Archibald, Shanti Balasubramaniam, Yemima Berman, Victoria Beshay, Kirsten Boggs, Jasmina Bojadzieva, Natasha J. Brown, Samantha J. Bryen, Michael F. Buckley, Belinda Chong, Mark R. Davis, Ruebena Dawes, Martin Delatycki, Liz Donaldson, Lilian Downie, Caitlin Edwards, Matthew Edwards, Amanda Engel, Lisa J. Ewans, Fathimath Faiz, Andrew Fennell, Michael Field, Mary-Louise Freckmann, Lyndon Gallacher, Russell Gear, Himanshu Goel, Shuxiang Goh, Linda Goodwin, Bernadette Hanna, James Harraway, Megan Higgins, Gladys Ho, Bruce K. Hopper, Ari E. Horton, Matthew F. Hunter, Aamira J. Huq, Sarah Josephi-Taylor, Himanshu Joshi, Edwin Kirk, Emma Krzesinski, Kishore R. Kumar, Frances Lemckert, Richard J. Leventer, Suzanna E. Lindsey-Temple, Sebastian Lunke, Alan Ma, Steven Macaskill, Amali Mallawaarachchi, Melanie Marty, Justine E. Marum, Hugh J. McCarthy, Manoj P. Menezes, Alison McLean, Di Milnes, Shekeeb Mohammad, David Mowat, Aram Niaz, Elizabeth E. Palmer, Chirag Patel, Shilpan G. Patel, Dean Phelan, Jason R. Pinner, Sulekha Rajagopalan, Matthew Regan, Jonathan Rodgers, Miriam Rodrigues, Richard H. Roxburgh, Rani Sachdev, Tony Roscioli, Ruvishani Samarasekera, Sarah A. Sandaradura, Elena Savva, Tim Schindler, Margit Shah, Ingrid B. Sinnerbrink, Janine M. Smith, Richard J. Smith, Amanda Springer, Zornitza Stark, Samuel P. Strom, Carolyn M. Sue, Kenneth Tan, Tiong Y. Tan, Esther Tantsis, Michel C. Tchan, Bryony A. Thompson, Alison H. Trainer, Karin van Spaendonck-Zwarts, Rebecca Walsh, Linda Warwick, Stephanie White, Susan M. White, Mark G. Williams, Meredith J. Wilson, Wui Kwan Wong, Dale C. Wright, Patrick Yap, Alison Yeung, Helen Young, Kristi J. Jones, Bruce Bennetts, Sandra T. Cooper, Ghusoon Abdulrasool, Ghamdan Al Eryani, Peer Arts, Richard Bagnall, Naomi L. Baker, Christopher Barnett, Sarah Beecroft, Marina Berbic, Michael Black, Jim Blackburn, Piers Blombery, Susan Branford, Jimmy Breen, Leslie Burnett, Daffodil Canson, Pak Cheong, Edward Chew, John Christodoulou, Seo-Kyung Chung, Mike Clark, Corrina Cliffe, Melissa Cole, Felicity Collins, Alison Compton, Antony Cooper, Mark Corbett, Mark Cowley, Tracy Dudding, Stefanie Eggers, Eduardo Eyras, Miriam Fanjul Fernandez, Andrew Fellowes, Ron Fleischer, Chiara Folland, Lucy Fox, Clara Gaff, Melanie Galea, Roula Ghaoui, Ilias Gornanitis, Thuong Ha, Rippei Hayashi, Ian Hayes, Alex Henderson, Luke Hesson, Erin Heyer, Michael Hildebrand, Michael Hipwell, Cass Hoskins, Matilda Jackson, Paul James, Justin Jong-Leong Wong, Karin Kassahn, Peter Kaub, Lucy Kevin, Smitha Kumble, Sarah Kummerfeld, Nigel Laing, Chiyan Lau, Eric Lee, Sarah Leighton, Ben Lundie, Chelsea Mayoh, Julie McGaughran, Mary McPhillips, Cliff Meldrum, Edwina Middleton, Kym Mina, Amy Nisselle, Emily Oates, Alicia Oshlack, Gayathri Parasivam, Michael Parsons, Michael Quinn, John Rasko, Gina Ravenscroft, Anja Ravine, Krista Recsei, Jacqueline Rehn, Stephen Robertson, Anne Ronan, Georgina Ryland, Simon Sadedin, Andreas Schreiber, Hamish Scott, Rodney Scott, Christopher Semsarian, Cas Simons, Emma Singer, Renee Smyth, Amanda Spurdle, Patricia Sullivan, Samantha Sundercombe, David Thorburn, John Toubia, Ronald Trent, Emma Tudini, Irina Voneague, Leigh Waddell, Logan Walker, Mathew Wallis, Nick Warnock, Robert Weatheritt, Deborah White, Ingrid Winship, Lisa Worgan, Kathy Wu, Andrew Ziolowski
المساهمون: Bournazos, Adam M, Riley, Lisa G, Bommireddipalli, Shobhana, Ades, Lesley, Cooper, Sandra T, Toubia, John, Australasian Consortium for RNA Diagnostics
مصطلحات موضوعية: Adult, Adolescent, RNA Splicing, Genetic counseling, putative splice variant, Biology, law.invention, genetic diagnosis, law, Exome Sequencing, Biopsy, medicine, Humans, variant classification, Gene, Genetics (clinical), Polymerase chain reaction, Genetics, medicine.diagnostic_test, Sequence Analysis, RNA, noncoding variant, RNA, Heterozygote advantage, Amplicon, Child, Preschool, Mutation, RNA splicing, pre-mRNA splicing
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المؤلفون: Louise C. Strong, Christopher I. Amos, Elissa B. Dodd-Eaton, Jingxiao Chen, Wenyi Wang, Jing Ning, Jasmina Bojadzieva, Fan Gao, Xianhua Kong, Seung Jun Shin
المصدر: Cancer Res
مصطلحات موضوعية: Male, 0301 basic medicine, Oncology, Cancer Research, Time Factors, Datasets as Topic, Penetrance, Li-Fraumeni Syndrome, 0302 clinical medicine, Mutation Rate, Child, Neoplasms, Second Primary, Second primary cancer, Middle Aged, Pedigree, Child, Preschool, 030220 oncology & carcinogenesis, Cohort, Female, Adult, Heterozygote, medicine.medical_specialty, Adolescent, Genetic counseling, Genetic Counseling, Risk Assessment, Article, Young Adult, 03 medical and health sciences, Germline mutation, Predictive Value of Tests, Internal medicine, medicine, Humans, Genetic Predisposition to Disease, Germ-Line Mutation, Models, Genetic, business.industry, Infant, Newborn, Computational Biology, Infant, Cancer, medicine.disease, Confidence interval, 030104 developmental biology, Li–Fraumeni syndrome, Tumor Suppressor Protein p53, business, Software, Follow-Up Studies
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المؤلفون: Elissa B. Dodd-Eaton, Ying Yuan, Jasmina Bojadzieva, Phuong L. Mai, Megan N. Frone, Sharon A. Savage, Mandy L. Ballinger, Louise C. Strong, Jingxiao Chen, Seung Jun Shin, Wenyi Wang, Payal P. Khincha, Gang Peng, Christopher I. Amos, David Thomas
المصدر: Cancer Research. 80:354-360
مصطلحات موضوعية: 0301 basic medicine, Oncology, Cancer Research, medicine.medical_specialty, education.field_of_study, Receiver operating characteristic, business.industry, Population, Cancer, medicine.disease, Penetrance, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Breast cancer, Li–Fraumeni syndrome, 030220 oncology & carcinogenesis, Internal medicine, medicine, Sarcoma, education, business, Sampling bias
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المؤلفون: Parijatham S. Thomas, Whitney R. Throckmorton, Behrang Amini, S. Day, Tiffiny L. Jackson, Brandy J. Willis, Najat C. Daw, Jasmina Bojadzieva, Therese Bartholomew Bevers, Louise C. Strong
المصدر: Familial Cancer. 17:287-294
مصطلحات موضوعية: Male, Cancer Research, Pediatrics, 030218 nuclear medicine & medical imaging, Li-Fraumeni Syndrome, 0302 clinical medicine, Epidemiology, Cancer screening, Whole Body Imaging, Child, Early Detection of Cancer, Genetics (clinical), education.field_of_study, medicine.diagnostic_test, Incidence, Brain, Middle Aged, Magnetic Resonance Imaging, Oncology, Child, Preschool, 030220 oncology & carcinogenesis, Female, medicine.symptom, Adult, Heterozygote, medicine.medical_specialty, Adolescent, Population, Asymptomatic, Young Adult, 03 medical and health sciences, Germline mutation, Genetics, medicine, Humans, Genetic Predisposition to Disease, education, Germ-Line Mutation, business.industry, Infant, Newborn, Infant, Cancer, Magnetic resonance imaging, medicine.disease, Surgery, Li–Fraumeni syndrome, Asymptomatic Diseases, Neoplasm Recurrence, Local, Tumor Suppressor Protein p53, business
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المؤلفون: Phuong L. Mai, Danielle Braun, Valen E. Johnson, Matthew D. Montierth, Jasmina Bojadzieva, Kristin Zelley, Carlos Christian Vera Recio, Elissa B. Dodd-Eaton, Louise C. Strong, Fan Gao, Wenyi Wang, Judy Garber, Xuedong Pan, Sharon A. Savage, Kim E. Nichols
المصدر: Genome Res
مصطلحات موضوعية: Adult, Method, Pedigree chart, Breast Neoplasms, Biology, Germline, Li-Fraumeni Syndrome, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Germline mutation, Breast cancer, Genetics, medicine, Humans, Family, Genetic Predisposition to Disease, Genetics (clinical), Germ-Line Mutation, 030304 developmental biology, BRCA2 Protein, Ovarian Neoplasms, 0303 health sciences, Mutation Spectra, BRCA1 Protein, Cancer, medicine.disease, Pedigree, Li–Fraumeni syndrome, Mutation (genetic algorithm), Female, Tumor Suppressor Protein p53, 030217 neurology & neurosurgery
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المؤلفون: David Thomas, Mandy L. Ballinger, Jingxiao Chen, Wenyi Wang, Louise C. Strong, Elissa B. Dodd, Jasmina Bojadzieva, Sharon A. Savage, Ying Yuan, Christopher I. Amos, Phuong L. Mai, Gang Peng, Seung Jun Shin
مصطلحات موضوعية: Oncology, 0303 health sciences, medicine.medical_specialty, Receiver operating characteristic, Tumor suppressor gene, business.industry, Cancer, medicine.disease, Penetrance, 3. Good health, 03 medical and health sciences, 0302 clinical medicine, Breast cancer, Li–Fraumeni syndrome, 030220 oncology & carcinogenesis, Internal medicine, Cohort, medicine, Sarcoma, business, 030304 developmental biology
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المؤلفون: Louise C. Strong, Seung Jun Shin, Christopher I. Amos, Jing Ning, Fan Gao, Jasmina Bojadzieva, Jingxiao Chen, Elissa B. Dodd, Xianhua Kong, Wenyi Wang
مصطلحات موضوعية: Oncology, 0303 health sciences, medicine.medical_specialty, business.industry, Cancer, Primary cancer, medicine.disease, Penetrance, 3. Good health, 03 medical and health sciences, 0302 clinical medicine, Germline mutation, Li–Fraumeni syndrome, 030220 oncology & carcinogenesis, Internal medicine, Genotype, Cohort, medicine, Single institution, business, 030304 developmental biology
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المؤلفون: Thomas P. Slavin, David Malkin, Eveline M. A. Bleiker, Joshua D. Schiffman, Allison F. O'Neill, Marielle W. G. Ruijs, Jasmina Bojadzieva, Judy Garber, Lorenzo Manelli, Mark E. Robson, Jennifer T. Loud, Michael Walsh, Mandy L. Ballinger, Rosalind A. Eeles, Gabe S. Sonke, Bita Nehoray, Sharon A. Savage, Payal P. Khincha, Wendy Kohlmann, Erika Koeppe, June A. Peters, Alexandre Balieiro da Costa, D. Gareth Evans, Ana F. Best, Maria Isabel Achatz, Jeffrey N. Weitzel, Rubens Chojniak, Elena M. Stoffel, David Thomas, Claudette E. Loo, Louise C. Strong, Anne Naumer, Anita Villani, Karina Miranda Santiago, Surya P. Rednam, Phuong L. Mai
المصدر: Ballinger, M L, Best, A, Mai, P L, Khincha, P P, Loud, J T, Peters, J A, Achatz, M I, Chojniak, R, Balierio da Costa, A, Santiago, K M, Garber, J, O'Neill, A, Eeles, R, Evans, D, Bleiker, E, Sonke, G S, Ruijs, M, Loo, C, Schiffmann, J, Naumer, A, Kohlmann, W K, Strong, L C, Bojadzieva, J, Malkin, D, Rednam, S P, Stoffel, E M, Koeppe, E, Weitzel, J N, Slavin, T P, Nehoray, B, Robson, M, Walsh, M, Manelli, L, Villani, A, Thomas, D M & Savage, S A 2017, ' Baseline Surveillance in Li-Fraumeni Syndrome using whole body magnetic resonance imaging: A Meta-Analysis ', JAMA oncology . https://doi.org/10.1001/jamaoncol.2017.1968
JAMA Oncolمصطلحات موضوعية: 0301 basic medicine, Adult, Male, Cancer Research, medicine.medical_specialty, Adolescent, Population, Diagnosis, Differential, Li-Fraumeni Syndrome, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Germline mutation, Internal medicine, medicine, Humans, Whole Body Imaging, Young adult, education, Early Detection of Cancer, Original Investigation, education.field_of_study, business.industry, Cancer, Correction, Middle Aged, medicine.disease, equipment and supplies, Magnetic Resonance Imaging, Surgery, 030104 developmental biology, Oncology, Li–Fraumeni syndrome, 030220 oncology & carcinogenesis, Meta-analysis, Population Surveillance, Cohort, Mutation, Practice Guidelines as Topic, Female, Differential diagnosis, Tumor Suppressor Protein p53, business, human activities
وصف الملف: application/vnd.openxmlformats-officedocument.wordprocessingml.document
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المؤلفون: Xuedong Pan, Fan Gao, Elissa B. Dodd, Jasmina Bojadzieva, Phuong L. Mai, Valen E. Johnson, Kristin Zelley, Kim E. Nichols, Judy E. Garber, Sharon A. Savage, Louise C. Strong, Wenyi Wang
المصدر: Cancer Research. 79:2406-2406
مصطلحات موضوعية: Cancer Research, Oncology
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المؤلفون: Seung Jun Shin, Elissa Dodd, Gang Peng, Jasmina Bojadzieva, Jingxiao Chen, Jing Ning, Phuong L. Mai, Sharon A. Savage, Mandy L. Ballinger, David M. Thomas, Ying Yuan, Louise C. Strong, Wenyi Wang
المصدر: Cancer Research. 79:2434-2434
مصطلحات موضوعية: Cancer Research, Oncology
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المؤلفون: David Thomas, Gang Peng, Mandy L. Ballinger, Sharon A. Savage, Louise C. Strong, Jasmina Bojadzieva, Phuong L. Mai, Wenyi Wang, Amanda L. Blackford, Jialu Li
مصطلحات موضوعية: 0301 basic medicine, Oncology, Male, medicine.medical_specialty, Pathology, Epidemiology, Population, Article, Li-Fraumeni Syndrome, 03 medical and health sciences, 0302 clinical medicine, Germline mutation, Risk Factors, Internal medicine, Medicine, Humans, Genetic Predisposition to Disease, education, Germ-Line Mutation, education.field_of_study, Receiver operating characteristic, business.industry, Cancer, medicine.disease, Confidence interval, 030104 developmental biology, Li–Fraumeni syndrome, 030220 oncology & carcinogenesis, Cohort, Female, Sarcoma, Tumor Suppressor Protein p53, business
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المؤلفون: Jasmina Bojadzieva, Sarah Jane Noblin, Susan K. Peterson, Jessica Ross, Rebecca Yzquierdo, Louise C. Strong, Martha A. Askins
المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 19(9)
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Adolescent, Emotions, Early detection, Article, Li-Fraumeni Syndrome, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Medicine, Humans, Genetic Predisposition to Disease, Public Health Surveillance, Li fraumeni, skin and connective tissue diseases, Psychiatry, neoplasms, Genetics (clinical), Early Detection of Cancer, Germ-Line Mutation, Qualitative Research, business.industry, nutritional and metabolic diseases, Middle Aged, medicine.disease, Texas, 030104 developmental biology, Li–Fraumeni syndrome, 030220 oncology & carcinogenesis, Female, Perception, business, Psychosocial
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المؤلفون: Louise C. Strong, Kaylene Ready, Olufunmilayo I. Olopade, Jennifer K. Litton, Gabriel N. Hortobagyi, Diane D. Liu, Elias Obeid, Amal Melhem-Bertrandt, Angelica M. Gutierrez-Barrera, Jasmina Bojadzieva, Banu Arun
المصدر: Cancer. 118:908-913
مصطلحات موضوعية: Oncology, Cancer Research, medicine.medical_specialty, Pathology, medicine.diagnostic_test, business.industry, Case-control study, Estrogen receptor, Cancer, Odds ratio, medicine.disease, Breast cancer, Germline mutation, Li–Fraumeni syndrome, Internal medicine, medicine, skin and connective tissue diseases, business, Genetic testing
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المؤلفون: Amal, Melhem-Bertrandt, Jasmina, Bojadzieva, Kaylene J, Ready, Elias, Obeid, Diane D, Liu, Angelica M, Gutierrez-Barrera, Jennifer K, Litton, Olufunmilayo I, Olopade, Gabriel N, Hortobagyi, Louise C, Strong, Banu K, Arun
المصدر: Cancer. 118(4)
مصطلحات موضوعية: Adult, Aging, Time Factors, Receptor, ErbB-2, Breast Neoplasms, Middle Aged, Article, Receptors, Estrogen, Case-Control Studies, Biomarkers, Tumor, Humans, Female, Genetic Predisposition to Disease, Genetic Testing, Tumor Suppressor Protein p53, Receptors, Progesterone, Germ-Line Mutation, Aged, Retrospective Studies, Signal Transduction
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المؤلفون: David Thomas, Mandy L. Ballinger, Louise C. Strong, Gang Peng, Jasmina Bojadzieva, Wenyi Wang
المصدر: Cancer Research. 75:2762-2762
مصطلحات موضوعية: Genetics, Oncology, Cancer Research, medicine.medical_specialty, Li–Fraumeni syndrome, business.industry, Internal medicine, medicine, Risk management tools, medicine.disease, Tp53 mutation, business
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