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1
المؤلفون: Anna Arutyunova, Maria I. Carlo, Jada G. Hamilton, Rebecca Gebert, Mark E. Robson, Erin E. Salo-Mullen, Vivek Narayan, Melissa Batson, Heather Symecko, Kelsey Spielman, Amanda Catchings, Zsofia K. Stadler, Ibrahim H Shah, Stacy Pundock, Elizabeth Schofield, Susan M. Domchek, Kenneth Offit, Karen Cadoo, Rebecca Mueller, Kelsey Breen, Magan Trottier, Kim A. Reiss
المصدر: Genetics in medicine : official journal of the American College of Medical Genetics
مصطلحات موضوعية: Male, medicine.medical_specialty, Genetic counseling, MEDLINE, Genetic Counseling, Mainstreaming, Article, treatment-focused genetic testing, Prostate cancer, multigene panel testing, psychosocial outcomes, Internal medicine, Humans, Medicine, Genetic Predisposition to Disease, Genetic Testing, Prospective Studies, Genetics (clinical), Depression (differential diagnoses), Genetic testing, medicine.diagnostic_test, business.industry, Prostatic Neoplasms, medicine.disease, Distress, hereditary cancer, business, Patient education
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d65921dfb8882a8a828209c579ff688Test
https://doi.org/10.1038/s41436-021-01262-2Test -
2
المؤلفون: Ozge Ceyhan-Birsoy, Gowtham Jayakumaran, Yelena Kemel, Maksym Misyura, Umut Aypar, Sowmya Jairam, Ciyu Yang, Yirong Li, Nikita Mehta, Anna Maio, Angela Arnold, Erin Salo-Mullen, Margaret Sheehan, Aijazuddin Syed, Michael Walsh, Maria Carlo, Mark Robson, Kenneth Offit, Marc Ladanyi, Jorge S. Reis-Filho, Zsofia K. Stadler, Liying Zhang, Alicia Latham, Ahmet Zehir, Diana Mandelker
المصدر: Genome Medicine. 14
مصطلحات موضوعية: Cohort Studies, Male, Genetics, Humans, Prostatic Neoplasms, Molecular Medicine, Genetic Predisposition to Disease, Genetic Testing, Colorectal Neoplasms, Molecular Biology, Germ-Line Mutation, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52d7e5f7a95eb106dd5da514b8c86580Test
https://doi.org/10.1186/s13073-022-01101-2Test -
3
المؤلفون: Ibrahim H. Shah, Erin E. Salo-Mullen, Kimberly A. Amoroso, David Kelsen, Zsofia K. Stadler, Jada G. Hamilton
المصدر: Hereditary cancer in clinical practice. 20(1)
مصطلحات موضوعية: Oncology, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ecfe6b2010a6fce6bd2c19e19317b0ccTest
https://pubmed.ncbi.nlm.nih.gov/36056367Test -
4
المؤلفون: Cathy Shyr, Amanda L. Blackford, Theodore Huang, Jianfeng Ke, Nofal Ouardaoui, Lorenzo Trippa, Sapna Syngal, Chinedu Ukaegbu, Hajime Uno, Khedoudja Nafa, Zsofia K. Stadler, Kenneth Offit, Christopher I. Amos, Patrick M. Lynch, Sining Chen, Francis M. Giardiello, Daniel D. Buchanan, John L. Hopper, Mark A. Jenkins, Melissa C. Southey, Aung Ko Win, Jane C. Figueiredo, Danielle Braun, Giovanni Parmigiani
المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 24(10)
مصطلحات موضوعية: Heterozygote, Humans, MutL Protein Homolog 1, Colorectal Neoplasms, Hereditary Nonpolyposis, DNA Mismatch Repair, Genetics (clinical), Germ-Line Mutation, Mismatch Repair Endonuclease PMS2
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf33dfafab13b918e9f854d1561bfbddTest
https://pubmed.ncbi.nlm.nih.gov/35997715Test -
5
المؤلفون: Kelsey E. Breen, Bryson W. Katona, Amanda Catchings, Megha Ranganathan, Vanessa Marcell, Alicia Latham, Matthew B. Yurgelun, Zsofia K. Stadler
المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 24(12)
مصطلحات موضوعية: Adult, Checkpoint Kinase 2, Heterozygote, Humans, Genetic Predisposition to Disease, Penetrance, Genetic Counseling, Middle Aged, Colorectal Neoplasms, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7fb48956878ed2766da254f638c4b26fTest
https://pubmed.ncbi.nlm.nih.gov/36222830Test -
6
المؤلفون: Liying Zhang, Erin E. Salo-Mullen, Vanessa Marcell, Zarina Yelskaya, Vivian E. Strong, Laura H. Tang, Angela G. Arnold, Zsofia K. Stadler
المصدر: Eur J Hum Genet
مصطلحات موضوعية: Genetics, Cloning, 0303 health sciences, biology, 030305 genetics & heredity, Cancer, medicine.disease, Germline, Article, CDH1, 03 medical and health sciences, Exon, RNA splicing, medicine, biology.protein, Missense mutation, Hereditary diffuse gastric cancer, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7192e7ade52ee8621a3e3ea11891db57Test
https://europepmc.org/articles/PMC8298625Test/ -
7
المؤلفون: Marc S. Greenblatt, Deborah I. Ritter, Matthew J. Ferber, Jennifer McGlaughon, Kristy Lee, Ryan J. Schmidt, Bryony A. Thompson, Bryce A. Seifert, Maegan E. Roberts, Liying Zhang, Mackenzie Trapp, Sharisse Jimenez, Sarah A. Jackson, Sharon E. Plon, Zsofia K. Stadler, Kenneth Offit
المصدر: Genetics in medicine : official journal of the American College of Medical Genetics
مصطلحات موضوعية: ClinGen, 0301 basic medicine, validity, medicine.medical_specialty, Colorectal cancer, Adenomatous polyposis coli, Susceptibility gene, 030105 genetics & heredity, Risk Assessment, Genome, Article, 03 medical and health sciences, Internal medicine, medicine, cancer, Humans, Genetic Predisposition to Disease, Clinical significance, Genetic Testing, Genetic Association Studies, Genetics (clinical), Genetic testing, Models, Genetic, medicine.diagnostic_test, biology, business.industry, Cancer, medicine.disease, 3. Good health, 030104 developmental biology, classification, Adenomatous Polyposis Coli, NGS, Clinical validity, biology.protein, Colorectal Neoplasms, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::550545b14b4a91cfbee4d917685cdc82Test
https://doi.org/10.1038/s41436-018-0373-1Test -
8
المؤلفون: Judy Garber, Kenneth Offit, Zsofia K. Stadler, Bryson W. Katona, Susan M. Domchek, Mark E. Robson, Matthew B. Yurgelun
المصدر: Genetics in Medicine. 20:1324-1327
مصطلحات موضوعية: Adult, Male, Colorectal cancer, Genetic counseling, Adenomatous Polyposis Coli Protein, Genetic Counseling, Penetrance, Susceptibility gene, DNA Glycosylases, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Genetic Predisposition to Disease, Checkpoint Kinase 2, Genetics (clinical), business.industry, Middle Aged, medicine.disease, Neoplasm Proteins, DNA glycosylase, 030220 oncology & carcinogenesis, Mutation, Mutation (genetic algorithm), Cancer research, Female, 030211 gastroenterology & hepatology, Colorectal Neoplasms, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::41e51b9d9c2897e38ca78f441ef63784Test
https://doi.org/10.1038/gim.2018.12Test -
9
المؤلفون: Monika Vyas, Peter Ntiamoah, Jinru Shia, Canan Firat, Julio Garcia-Aguilar, Rona Yaeger, Jamal Benhamida, Martin R. Weiser, David S. Klimstra, Chad M. Vanderbilt, Ajaratu Keshinro, Zsofia K. Stadler, Jaclyn F. Hechtman, Imane El Dika, Efsevia Vakiani, Liying Zhang, Arnold J. Markowitz, Rebecca Andrade, Marco Gonzalez, J. Joshua Smith
المصدر: Fam Cancer
مصطلحات موضوعية: 0301 basic medicine, Oncology, Adult, Male, Cancer Research, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Colorectal cancer, 030105 genetics & heredity, DNA Mismatch Repair, Article, Familial adenomatous polyposis, Cohort Studies, Neoplasms, Multiple Primary, 03 medical and health sciences, 0302 clinical medicine, Germline mutation, Internal medicine, Genetics, Carcinoma, medicine, Humans, Genetics (clinical), Germ-Line Mutation, Aged, Gastrointestinal Neoplasms, Mismatch Repair Endonuclease PMS2, Aged, 80 and over, business.industry, Cancer, Neoplasms, Second Primary, Middle Aged, medicine.disease, Colorectal Neoplasms, Hereditary Nonpolyposis, Lynch syndrome, digestive system diseases, DNA-Binding Proteins, 030220 oncology & carcinogenesis, Immunohistochemistry, DNA mismatch repair, Female, Microsatellite Instability, business, Colorectal Neoplasms
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b989938356d1c5798c76a1962bae900Test
https://europepmc.org/articles/PMC8032798Test/ -
10
المؤلفون: Liying Zhang, Magan Trottier, Erin E. Salo-Mullen, Yirong Li, Zsofia K. Stadler, Anna M. Varghese
المصدر: Molecular Genetics & Genomic Medicine
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, RNA Splicing, 030105 genetics & heredity, Biology, MLH1, Germline, 03 medical and health sciences, splicing, Germline mutation, AluSx, Alu Elements, Genetics, medicine, Humans, Molecular Biology, Gene, Genetics (clinical), Intron, Original Articles, medicine.disease, Molecular biology, Colorectal Neoplasms, Hereditary Nonpolyposis, Lynch syndrome, digestive system diseases, Introns, Mutagenesis, Insertional, 030104 developmental biology, RNA splicing, DNA mismatch repair, Original Article, MutL Protein Homolog 1
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55f69c17e29bc9fe25444e6e6ab719b9Test
http://europepmc.org/articles/PMC7767547Test