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Page 1
Risk-Reducing Gynecological Surgery in Lynch Syndrome: Results of an International Survey from the Prospective Lynch Syndrome Database.
Dominguez-Valentin M, Seppälä TT, Engel C, Aretz S, Macrae F, Winship I, Capella G, Thomas H, Hovig E, Nielsen M, Sijmons RH, Bertario L, Bonanni B, Tibiletti MG, Cavestro GM, Mints M, Gluck N, Katz L, Heinimann K, Vaccaro CA, Green K, Lalloo F, Hill J, Schmiegel W, Vangala D, Perne C, Strauß HG, Tecklenburg J, Holinski-Feder E, Steinke-Lange V, Mecklin JP, Plazzer JP, Pineda M, Navarro M, Vidal JB, Kariv R, Rosner G, Piñero TA, Gonzalez ML, Kalfayan P, Sampson JR, Ryan NAJ, Evans DG, Møller P, Crosbie EJ. Dominguez-Valentin M, et al. Among authors: pineda m. J Clin Med. 2020 Jul 18;9(7):2290. doi: 10.3390/jcm9072290. J Clin Med. 2020. PMID: 32708519 Free PMC article.
MLH1 founder mutations with moderate penetrance in Spanish Lynch syndrome families.
Borràs E, Pineda M, Blanco I, Jewett EM, Wang F, Teulé A, Caldés T, Urioste M, Martínez-Bouzas C, Brunet J, Balmaña J, Torres A, Ramón y Cajal T, Sanz J, Pérez-Cabornero L, Castellví-Bel S, Alonso A, Lanas A, González S, Moreno V, Gruber SB, Rosenberg NA, Mukherjee B, Lázaro C, Capellá G. Borràs E, et al. Among authors: pineda m. Cancer Res. 2010 Oct 1;70(19):7379-91. doi: 10.1158/0008-5472.CAN-10-0570. Epub 2010 Sep 21. Cancer Res. 2010. PMID: 20858721 Free article.
Comprehensive functional assessment of MLH1 variants of unknown significance.
Borràs E, Pineda M, Brieger A, Hinrichsen I, Gómez C, Navarro M, Balmaña J, Ramón y Cajal T, Torres A, Brunet J, Blanco I, Plotz G, Lázaro C, Capellá G. Borràs E, et al. Among authors: pineda m. Hum Mutat. 2012 Nov;33(11):1576-88. doi: 10.1002/humu.22142. Epub 2012 Jul 12. Hum Mutat. 2012. PMID: 22736432
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. 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.
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: pineda m. 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.
Telomere length and genetic anticipation in Lynch syndrome.
Seguí N, Pineda M, Guinó E, Borràs E, Navarro M, Bellido F, Moreno V, Lázaro C, Blanco I, Capellá G, Valle L. Seguí N, et al. Among authors: pineda m. PLoS One. 2013 Apr 23;8(4):e61286. doi: 10.1371/journal.pone.0061286. Print 2013. PLoS One. 2013. PMID: 23637804 Free PMC article.
Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants.
Borràs E, Pineda M, Cadiñanos J, Del Valle J, Brieger A, Hinrichsen I, Cabanillas R, Navarro M, Brunet J, Sanjuan X, Musulen E, van der Klift H, Lázaro C, Plotz G, Blanco I, Capellá G. Borràs E, et al. Among authors: pineda m. J Med Genet. 2013 Aug;50(8):552-63. doi: 10.1136/jmedgenet-2012-101511. Epub 2013 May 24. J Med Genet. 2013. PMID: 23709753
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: pineda m. Hum Mutat. 2014 Jan;35(1):50-2. doi: 10.1002/humu.22454. Epub 2013 Oct 17. Hum Mutat. 2014. PMID: 24115450
752 results