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Page 1
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: mur p. 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.
Identification of a founder EPCAM deletion in Spanish Lynch syndrome families.
Mur P, Pineda M, Romero A, Del Valle J, Borràs E, Canal A, Navarro M, Brunet J, Rueda D, Ramón Y Cajal T, Lázaro C, Caldés T, Blanco I, Soto JL, Capellá G. Mur P, et al. Clin Genet. 2014 Mar;85(3):260-6. doi: 10.1111/cge.12152. Epub 2013 Apr 26. Clin Genet. 2014. PMID: 23530899
AMER1 Is a Frequently Mutated Gene in Colorectal Cancer--Letter.
Mur P, Aiza G, Sanz-Pamplona R, González S, Navarro M, Moreno V, Capellá G, Valle L. Mur P, et al. Clin Cancer Res. 2015 Nov 1;21(21):4985. doi: 10.1158/1078-0432.CCR-15-1756. Clin Cancer Res. 2015. PMID: 26527806 No abstract available.
Delineating the Phenotypic Spectrum of the NTHL1-Associated Polyposis.
Belhadj S, Mur P, Navarro M, González S, Moreno V, Capellá G, Valle L. Belhadj S, et al. Among authors: mur p. Clin Gastroenterol Hepatol. 2017 Mar;15(3):461-462. doi: 10.1016/j.cgh.2016.09.153. Epub 2016 Oct 5. Clin Gastroenterol Hepatol. 2017. PMID: 27720914 No abstract available.
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: mur p. Gastroenterology. 2018 Jan;154(1):181-194.e20. doi: 10.1053/j.gastro.2017.09.005. Epub 2017 Sep 12. Gastroenterology. 2018. PMID: 28912018
Evidence suggests that germline RNF43 mutations are a rare cause of serrated polyposis.
Quintana I, Mejías-Luque R, Terradas M, Navarro M, Piñol V, Mur P, Belhadj S, Grau E, Darder E, Solanes A, Brunet J, Capellá G, Gerhard M, Valle L. Quintana I, et al. Among authors: mur p. Gut. 2018 Dec;67(12):2230-2232. doi: 10.1136/gutjnl-2017-315733. Epub 2018 Jan 12. Gut. 2018. PMID: 29330307 No abstract available.
Germline mutations in the spindle assembly checkpoint genes BUB1 and BUB3 are infrequent in familial colorectal cancer and polyposis.
Mur P, De Voer RM, Olivera-Salguero R, Rodríguez-Perales S, Pons T, Setién F, Aiza G, Valdés-Mas R, Bertini A, Pineda M, Vreede L, Navarro M, Iglesias S, González S, Brunet J, Valencia A, Esteller M, Lázaro C, Kops GJPL, Urioste M, Puente XS, Capellá G, Valle L. Mur P, et al. Mol Cancer. 2018 Feb 15;17(1):23. doi: 10.1186/s12943-018-0762-8. Mol Cancer. 2018. PMID: 29448935 Free PMC article.
75 results