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705 results

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Page 1
Genetic variant in the telomerase gene modifies cancer risk in Lynch syndrome.
Bellido F, Guinó E, Jagmohan-Changur S, Seguí N, Pineda M, Navarro M, Lázaro C, Blanco I, Vasen HF, Moreno V, Capellá G, Wijnen JT, Valle L. Bellido F, et al. Among authors: blanco i. Eur J Hum Genet. 2013 May;21(5):511-6. doi: 10.1038/ejhg.2012.204. Epub 2012 Sep 5. Eur J Hum Genet. 2013. PMID: 22948024 Free PMC article.
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: blanco i. 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.
GALNT12 is not a major contributor of familial colorectal cancer type X.
Seguí N, Pineda M, Navarro M, Lázaro C, Brunet J, Infante M, Durán M, Soto JL, Blanco I, Capellá G, Valle L. Seguí N, et al. Among authors: blanco i. Hum Mutat. 2014 Jan;35(1):50-2. doi: 10.1002/humu.22454. Epub 2013 Oct 17. Hum Mutat. 2014. PMID: 24115450
MLH1 methylation screening is effective in identifying epimutation carriers.
Pineda M, Mur P, Iniesta MD, Borràs E, Campos O, Vargas G, Iglesias S, Fernández A, Gruber SB, Lázaro C, Brunet J, Navarro M, Blanco I, Capellá G. Pineda M, et al. Among authors: blanco i. Eur J Hum Genet. 2012 Dec;20(12):1256-64. doi: 10.1038/ejhg.2012.136. Epub 2012 Jul 4. Eur J Hum Genet. 2012. PMID: 22763379 Free PMC article.
Association Between Germline Mutations in BRF1, a Subunit of the RNA Polymerase III Transcription Complex, and Hereditary Colorectal Cancer.
Bellido F, Sowada N, Mur P, Lázaro C, Pons T, Valdés-Mas R, Pineda M, Aiza G, Iglesias S, Soto JL, Urioste M, Caldés T, Balbín M, Blay P, Rueda D, Durán M, Valencia A, Moreno V, Brunet J, Blanco I, Navarro M, Calin GA, Borck G, Puente XS, Capellá G, Valle L. Bellido F, et al. Among authors: blanco i. Gastroenterology. 2018 Jan;154(1):181-194.e20. doi: 10.1053/j.gastro.2017.09.005. Epub 2017 Sep 12. Gastroenterology. 2018. PMID: 28912018
705 results