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Page 1
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. Among authors: soto jl. Clin Genet. 2014 Mar;85(3):260-6. doi: 10.1111/cge.12152. Epub 2013 Apr 26. Clin Genet. 2014. PMID: 23530899
Utility of p16 immunohistochemistry for the identification of Lynch syndrome.
Payá A, Alenda C, Pérez-Carbonell L, Rojas E, Soto JL, Guillén C, Castillejo A, Barberá VM, Carrato A, Castells A, Llor X, Andreu M, Koh J, Enders GH, Benlloch S, Jover R. Payá A, et al. Among authors: soto jl. Clin Cancer Res. 2009 May 1;15(9):3156-62. doi: 10.1158/1078-0432.CCR-08-3116. Epub 2009 Apr 21. Clin Cancer Res. 2009. PMID: 19383812 Free PMC article.
EPCAM germ line deletions as causes of Lynch syndrome in Spanish patients.
Guarinos C, Castillejo A, Barberá VM, Pérez-Carbonell L, Sánchez-Heras AB, Segura A, Guillén-Ponce C, Martínez-Cantó A, Castillejo MI, Egoavil CM, Jover R, Payá A, Alenda C, Soto JL. Guarinos C, et al. Among authors: soto jl. J Mol Diagn. 2010 Nov;12(6):765-70. doi: 10.2353/jmoldx.2010.100039. Epub 2010 Sep 23. J Mol Diagn. 2010. PMID: 20864635 Free PMC article.
Evidence for classification of c.1852_1853AA>GC in MLH1 as a neutral variant for Lynch syndrome.
Castillejo A, Guarinos C, Martinez-Canto A, Barbera VM, Egoavil C, Castillejo MI, Perez-Carbonell L, Sanchez-Heras AB, Segura A, Ochoa E, Lazaro R, Ruiz-Ponte C, Bujanda L, Andreu M, Castells A, Carracedo A, Llor X, Clofent J, Alenda C, Paya A, Jover R, Soto JL. Castillejo A, et al. Among authors: soto jl. BMC Med Genet. 2011 Jan 19;12:12. doi: 10.1186/1471-2350-12-12. BMC Med Genet. 2011. PMID: 21247423 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: soto jl. Hum Mutat. 2014 Jan;35(1):50-2. doi: 10.1002/humu.22454. Epub 2013 Oct 17. Hum Mutat. 2014. PMID: 24115450
Prevalence of Lynch syndrome among patients with newly diagnosed endometrial cancers.
Egoavil C, Alenda C, Castillejo A, Paya A, Peiro G, Sánchez-Heras AB, Castillejo MI, Rojas E, Barberá VM, Cigüenza S, Lopez JA, Piñero O, Román MJ, Martínez-Escoriza JC, Guarinos C, Perez-Carbonell L, Aranda FI, Soto JL. Egoavil C, et al. Among authors: soto jl. PLoS One. 2013 Nov 7;8(11):e79737. doi: 10.1371/journal.pone.0079737. eCollection 2013. PLoS One. 2013. PMID: 24244552 Free PMC article.
Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.
Thompson BA, Spurdle AB, Plazzer JP, Greenblatt MS, Akagi K, Al-Mulla F, Bapat B, Bernstein I, Capellá G, den Dunnen JT, du Sart D, Fabre A, Farrell MP, Farrington SM, Frayling IM, Frebourg T, Goldgar DE, Heinen CD, Holinski-Feder E, Kohonen-Corish M, Robinson KL, Leung SY, Martins A, Moller P, Morak M, Nystrom M, Peltomaki P, Pineda M, Qi M, Ramesar R, Rasmussen LJ, Royer-Pokora B, Scott RJ, Sijmons R, Tavtigian SV, Tops CM, Weber T, Wijnen J, Woods MO, Macrae F, Genuardi M. Thompson BA, et al. Nat Genet. 2014 Feb;46(2):107-115. doi: 10.1038/ng.2854. Epub 2013 Dec 22. Nat Genet. 2014. PMID: 24362816 Free PMC article.
New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis.
Valle L, Hernández-Illán E, Bellido F, Aiza G, Castillejo A, Castillejo MI, Navarro M, Seguí N, Vargas G, Guarinos C, Juarez M, Sanjuán X, Iglesias S, Alenda C, Egoavil C, Segura Á, Juan MJ, Rodriguez-Soler M, Brunet J, González S, Jover R, Lázaro C, Capellá G, Pineda M, Soto JL, Blanco I. Valle L, et al. Among authors: soto jl. Hum Mol Genet. 2014 Jul 1;23(13):3506-12. doi: 10.1093/hmg/ddu058. Epub 2014 Feb 5. Hum Mol Genet. 2014. PMID: 24501277
Prevalence of germline MUTYH mutations among Lynch-like syndrome patients.
Castillejo A, Vargas G, Castillejo MI, Navarro M, Barberá VM, González S, Hernández-Illán E, Brunet J, Ramón y Cajal T, Balmaña J, Oltra S, Iglesias S, Velasco A, Solanes A, Campos O, Sánchez Heras AB, Gallego J, Carrasco E, González Juan D, Segura A, Chirivella I, Juan MJ, Tena I, Lázaro C, Blanco I, Pineda M, Capellá G, Soto JL. Castillejo A, et al. Among authors: soto jl. Eur J Cancer. 2014 Sep;50(13):2241-50. doi: 10.1016/j.ejca.2014.05.022. Epub 2014 Jun 18. Eur J Cancer. 2014. PMID: 24953332
Prevalence of MLH1 constitutional epimutations as a cause of Lynch syndrome in unselected versus selected consecutive series of patients with colorectal cancer.
Castillejo A, Hernández-Illán E, Rodriguez-Soler M, Pérez-Carbonell L, Egoavil C, Barberá VM, Castillejo MI, Guarinos C, Martínez-de-Dueñas E, Juan MJ, Sánchez-Heras AB, García-Casado Z, Ruiz-Ponte C, Brea-Fernández A, Juárez M, Bujanda L, Clofent J, Llor X, Andreu M, Castells A, Carracedo A, Alenda C, Payá A, Jover R, Soto JL. Castillejo A, et al. Among authors: soto jl. J Med Genet. 2015 Jul;52(7):498-502. doi: 10.1136/jmedgenet-2015-103076. Epub 2015 Apr 23. J Med Genet. 2015. PMID: 25908759
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