-
1دورية أكاديمية
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 20, 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
وصف الملف: electronic resource
-
2
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
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47983463a625dba95e17bc5adf9ec71bTest
https://doi.org/10.1158/0008-5472.22425427.v1Test -
3
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
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6bb6cd867bc14fe18426ca956b4e2056Test
https://doi.org/10.1158/1055-9965.c.6516042Test -
4
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
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61ec5e8e6e449a0a6ab40a44b4ebb27cTest
https://doi.org/10.1158/0008-5472.22425424.v1Test -
5
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
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ab064eb205777831f540711a870ea1eTest
https://doi.org/10.1158/0008-5472.c.6512032.v1Test -
6
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
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e89d7bfd7ca0514671d5a9885197b140Test
https://hdl.handle.net/11541.2/34507Test -
7
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
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4879382bc2bbe4b8656d95cdd290b37Test
https://doi.org/10.1158/0008-5472.can-19-0725Test -
8
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
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::89ea6666106dfbfd9279847fd76d6656Test
https://doi.org/10.1158/0008-5472.can-19-0728Test -
9
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
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed015006675d8b173b48c1c26ffeda30Test
https://doi.org/10.1007/s10689-017-0034-6Test -
10
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
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82c033edb8a0b62093c872bf57e82ed8Test
https://pubmed.ncbi.nlm.nih.gov/32817165Test