المؤلفون: Diego Garmendia, Anne Weidner, Lindsay Venton, Tuya Pal

المصدر: Genes, Vol 15, Iss 7, p 881 (2024)

مصطلحات موضوعية: CHEK2, germline pathogenic/likely pathogenic variant, 1100delC, I157T, breast cancer, cancer risk, Genetics, QH426-470

Relation: https://www.mdpi.com/2073-4425/15/7/881; https://doaj.org/toc/2073-4425; https://doaj.org/article/3e7c9d16cfdb41f5996ee1d0ab9eb49d

الاتاحة: https://doi.org/10.3390/genes15070881
https://doaj.org/article/3e7c9d16cfdb41f5996ee1d0ab9eb49d

المؤلفون: Shim, Veronica, Karlea, Audrey, Brenman, Leslie Manace, Gul, Jamila, Hoodfar, Elizabeth, Chan, Tracy D, Engeman, Poline C, Sheldon, Vanessa M, Thorne-Hadfield, Deirdre M, Odele, Patience, Vuong, Brooke, McEvoy, Jennifer, Chang, C K, Kotak, Dinesh, Habel, Laurel A

المصدر: Ann Surg Oncol ; ISSN:1534-4681 ; Volume:32 ; Issue:1

مصطلحات موضوعية: Breast cancer, Breast cancer-related gene, Mainstream germline genetic testing, Multigene panel, Pathogenic/likely pathogenic variant

Relation: https://doi.org/10.1245/s10434-024-16223-7; https://pubmed.ncbi.nlm.nih.gov/39292401; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11659365/

الاتاحة: https://doi.org/10.1245/s10434-024-16223-7
https://pubmed.ncbi.nlm.nih.gov/39292401
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11659365/

المؤلفون: Chieh-Min Chang, Kuei-Ching Lin, Nien-En Hsiao, Wei-An Hong, Chia-Yu Lin, Ta-Chih Liu, Ya-Sian Chang, Jan-Gowth Chang

المصدر: BMC Cancer, Vol 22, Iss 1, Pp 1-9 (2022)

مصطلحات موضوعية: Liquid biopsy, Clonal hematopoiesis, Somatic mutation, Germline mutation, Pathogenic/likely pathogenic variant, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2407

URL الوصول: https://doaj.org/article/fa462009e0404887aceb9583966f78b1

المؤلفون: Paldino, Alessia, Dal Ferro, Matteo, Stolfo, Davide, Gandin, Ilaria, Medo, Kristen, Graw, Sharon, Gigli, Marta, Gagno, Giulia, Zaffalon, Denise, Castrichini, Matteo, Masè, Marco, Cannatà, Antonio, Brun, Francesca, Storm, Garrett, Severini, Giovanni Maria, Lenarduzzi, Stefania, Girotto, Giorgia, Gasparini, Paolo, Bortolotti, Francesca, Giacca, Mauro, Zacchigna, Serena, Merlo, Marco, Taylor, Matthew R G, Mestroni, Luisa, Sinagra, Gianfranco

المساهمون: Paldino, Alessia, Dal Ferro, Matteo, Stolfo, Davide, Gandin, Ilaria, Medo, Kristen, Graw, Sharon, Gigli, Marta, Gagno, Giulia, Zaffalon, Denise, Castrichini, Matteo, Masè, Marco, Cannatà, Antonio, Brun, Francesca, Storm, Garrett, Severini, Giovanni Maria, Lenarduzzi, Stefania, Girotto, Giorgia, Gasparini, Paolo, Bortolotti, Francesca, Giacca, Mauro, Zacchigna, Serena, Merlo, Marco, Taylor, Matthew R G, Mestroni, Luisa, Sinagra, Gianfranco

مصطلحات موضوعية: ALVC, ARVC, DCM, genotype, pathogenic/likely pathogenic variant, phenotype

Relation: info:eu-repo/semantics/altIdentifier/pmid/36396199; info:eu-repo/semantics/altIdentifier/wos/WOS:000914875000005; volume:80; issue:21; firstpage:1981; lastpage:1994; numberofpages:14; journal:JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY; https://hdl.handle.net/11368/3035020; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85141277326; https://www.sciencedirect.com/science/article/pii/S0735109722069480?via=ihub

الاتاحة: https://hdl.handle.net/11368/3035020
https://doi.org/10.1016/j.jacc.2022.08.804
https://www.sciencedirect.com/science/article/pii/S0735109722069480?via=ihub

المؤلفون: Alessia Paldino, Matteo Dal Ferro, Davide Stolfo, Ilaria Gandin, Kristen Medo, Sharon Graw, Marta Gigli, Giulia Gagno, Denise Zaffalon, Matteo Castrichini, Marco Masè, Antonio Cannatà, Francesca Brun, Garrett Storm, Giovanni Maria Severini, Stefania Lenarduzzi, Giorgia Girotto, Paolo Gasparini, Francesca Bortolotti, Mauro Giacca, Serena Zacchigna, Marco Merlo, Matthew R.G. Taylor, Luisa Mestroni, Gianfranco Sinagra

المساهمون: Paldino, Alessia, Dal Ferro, Matteo, Stolfo, Davide, Gandin, Ilaria, Medo, Kristen, Graw, Sharon, Gigli, Marta, Gagno, Giulia, Zaffalon, Denise, Castrichini, Matteo, Masè, Marco, Cannatà, Antonio, Brun, Francesca, Storm, Garrett, Severini, Giovanni Maria, Lenarduzzi, Stefania, Girotto, Giorgia, Gasparini, Paolo, Bortolotti, Francesca, Giacca, Mauro, Zacchigna, Serena, Merlo, Marco, Taylor, Matthew R G, Mestroni, Luisa, Sinagra, Gianfranco

المصدر: Journal of the American College of Cardiology. 80(21)

مصطلحات موضوعية: Cardiomyopathy, Dilated, DCM, Genotype, phenotype, genotype, Arrhythmias, Cardiac, pathogenic/likely pathogenic variants, Prognosis, pathogenic/likely pathogenic variant, ALVC, Phenotype, Death, Sudden, Cardiac, ARVC, Cytidine Monophosphate, Humans, Cardiology and Cardiovascular Medicine, Cardiomyopathies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0d439b36275eb9a5979caae2b494b68
https://pubmed.ncbi.nlm.nih.gov/36396200