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Improving Genetic Testing in Hereditary Cancer by RNA Analysis: Tools to Prioritize Splicing Studies and Challenges in Applying American College of Medical Genetics and Genomics Guidelines.
Rofes P, Menéndez M, González S, Tornero E, Gómez C, Vargas-Parra G, Montes E, Salinas M, Solanes A, Brunet J, Teulé A, Capellá G, Feliubadaló L, Del Valle J, Pineda M, Lázaro C. Rofes P, et al. Among authors: menendez m. J Mol Diagn. 2020 Dec;22(12):1453-1468. doi: 10.1016/j.jmoldx.2020.09.007. Epub 2020 Oct 1. J Mol Diagn. 2020. PMID: 33011440 Free article.
Colorectal cancer risk and the APC D1822V variant.
Menéndez M, González S, Blanco I, Guinó E, Peris M, Peinado MA, Capellá G, Moreno V. Menéndez M, et al. Int J Cancer. 2004 Oct 20;112(1):161-3. doi: 10.1002/ijc.20361. Int J Cancer. 2004. PMID: 15305389 No abstract available.
Assessing the RNA effect of 26 DNA variants in the BRCA1 and BRCA2 genes.
Menéndez M, Castellsagué J, Mirete M, Pros E, Feliubadaló L, Osorio A, Calaf M, Tornero E, del Valle J, Fernández-Rodríguez J, Quiles F, Salinas M, Velasco A, Teulé A, Brunet J, Blanco I, Capellá G, Lázaro C. Menéndez M, et al. Breast Cancer Res Treat. 2012 Apr;132(3):979-92. doi: 10.1007/s10549-011-1661-5. Epub 2011 Jul 7. Breast Cancer Res Treat. 2012. PMID: 21735045
Identification of a new complex rearrangement affecting exon 20 of BRCA1.
Del Valle J, Campos O, Velasco A, Darder E, Menéndez M, Feliubadaló L, Tornero E, Blanco I, Izquierdo A, Brunet J, Capellá G, Lázaro C. Del Valle J, et al. Among authors: menendez m. Breast Cancer Res Treat. 2011 Nov;130(1):341-4. doi: 10.1007/s10549-011-1673-1. Epub 2011 Jul 15. Breast Cancer Res Treat. 2011. PMID: 21761158
Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members.
Thomassen M, Blanco A, Montagna M, Hansen TV, Pedersen IS, Gutiérrez-Enríquez S, Menéndez M, Fachal L, Santamariña M, Steffensen AY, Jønson L, Agata S, Whiley P, Tognazzo S, Tornero E, Jensen UB, Balmaña J, Kruse TA, Goldgar DE, Lázaro C, Diez O, Spurdle AB, Vega A. Thomassen M, et al. Among authors: menendez m. Breast Cancer Res Treat. 2012 Apr;132(3):1009-23. doi: 10.1007/s10549-011-1674-0. Epub 2011 Jul 19. Breast Cancer Res Treat. 2012. PMID: 21769658
Next-generation sequencing meets genetic diagnostics: development of a comprehensive workflow for the analysis of BRCA1 and BRCA2 genes.
Feliubadaló L, Lopez-Doriga A, Castellsagué E, del Valle J, Menéndez M, Tornero E, Montes E, Cuesta R, Gómez C, Campos O, Pineda M, González S, Moreno V, Brunet J, Blanco I, Serra E, Capellá G, Lázaro C. Feliubadaló L, et al. Among authors: menendez m. Eur J Hum Genet. 2013 Aug;21(8):864-70. doi: 10.1038/ejhg.2012.270. Epub 2012 Dec 19. Eur J Hum Genet. 2013. PMID: 23249957 Free PMC article.
782 results