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Page 1
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.
SpadaHC: a database to improve the classification of variants in hereditary cancer genes in the Spanish population.
Moreno-Cabrera JM, Feliubadaló L, Pineda M, Prada-Dacasa P, Ramos-Muntada M, Del Valle J, Brunet J, Gel B, Currás-Freixes M, Calsina B, Salazar-Hidalgo ME, Rodríguez-Balada M, Roig B, Fernández-Castillejo S, Durán Domínguez M, Arranz Ledo M, Infante Sanz M, Castillejo A, Dámaso E, Soto JL, de Miguel M, Hidalgo Calero B, Sánchez-Zapardiel JM, Ramon Y Cajal T, Lasa A, Gisbert-Beamud A, López-Novo A, Ruiz-Ponte C, Potrony M, Álvarez-Mora MI, Osorio A, Lorda-Sánchez I, Robledo M, Cascón A, Ruiz A, Spataro N, Hernan I, Borràs E, Moles-Fernández A, Earl J, Cadiñanos J, Sánchez-Heras AB, Bigas A, Capellá G, Lázaro C. Moreno-Cabrera JM, et al. Among authors: castillejo a. Database (Oxford). 2024 Jul 4;2024:baae055. doi: 10.1093/database/baae055. Database (Oxford). 2024. PMID: 38965703 Free PMC article.
Lynch-like Syndrome: Potential Mechanisms and Management.
Martínez-Roca A, Giner-Calabuig M, Murcia O, Castillejo A, Soto JL, García-Heredia A, Jover R. Martínez-Roca A, et al. Among authors: castillejo a. Cancers (Basel). 2022 Feb 22;14(5):1115. doi: 10.3390/cancers14051115. Cancers (Basel). 2022. PMID: 35267422 Free PMC article. Review.
A guide to sharing open healthcare data under the General Data Protection Regulation.
de Kok JWTM, de la Hoz MÁA, de Jong Y, Brokke V, Elbers PWG, Thoral P, Castillejo A, Trenor T, Castellano JM, Bronchalo AE, Merz TM, Faltys M; Collaborator group; van der Horst ICC, Xu M, Celi LA, van Bussel BCT, Borrat X. de Kok JWTM, et al. Among authors: castillejo a. Sci Data. 2023 Jun 24;10(1):404. doi: 10.1038/s41597-023-02256-2. Sci Data. 2023. PMID: 37355751 Free PMC article.
Primary constitutional MLH1 epimutations: a focal epigenetic event.
Dámaso E, Castillejo A, Arias MDM, Canet-Hermida J, Navarro M, Del Valle J, Campos O, Fernández A, Marín F, Turchetti D, García-Díaz JD, Lázaro C, Genuardi M, Rueda D, Alonso Á, Soto JL, Hitchins M, Pineda M, Capellá G. Dámaso E, et al. Among authors: castillejo a. Br J Cancer. 2018 Oct;119(8):978-987. doi: 10.1038/s41416-018-0019-8. Epub 2018 Oct 4. Br J Cancer. 2018. PMID: 30283143 Free PMC article.
Characterization of a novel POLD1 missense founder mutation in a Spanish population.
Ferrer-Avargues R, Díez-Obrero V, Martín-Tomás E, Hernández-Illán E, Castillejo MI, Codoñer-Alejos A, Barberá VM, Sánchez-Heras AB, Segura Á, Juan MJ, Tena I, Castillejo A, Soto JL. Ferrer-Avargues R, et al. Among authors: castillejo a. J Gene Med. 2017 Apr;19(4). doi: 10.1002/jgm.2951. J Gene Med. 2017. PMID: 28306219
Genetic and clinical characterization of a novel FH founder mutation in families with hereditary leiomyomatosis and renal cell cancer syndrome.
Sánchez-Heras AB, Dámaso E, Castillejo A, Robledo M, Teulé A, Lázaro C, Sánchez-Martínez R, Zúñiga Á, López-Fernández A, Balmaña J, Robles L, Ramon Y Cajal T, Castillejo MI, Ibañez RP, Sevila CM, Sánchez-Mira A, Escandell I, Gómez L, Berbel P, Soto JL. Sánchez-Heras AB, et al. Among authors: castillejo a. Orphanet J Rare Dis. 2024 Jan 26;19(1):26. doi: 10.1186/s13023-024-03017-z. Orphanet J Rare Dis. 2024. PMID: 38279137 Free PMC article.
Recurrent testicular germ cell tumors in a family with MYH-associated polyposis.
Castillejo A, Sanchez-Heras AB, Jover R, Castillejo MI, Guarinos C, Oltra S, Martínez-Canto A, Barbera VM, Laforga J, Paya A, Alenda C, Soto JL. Castillejo A, et al. J Clin Oncol. 2012 Aug 10;30(23):e216-7. doi: 10.1200/JCO.2012.41.5992. Epub 2012 Jun 18. J Clin Oncol. 2012. PMID: 22711856 No abstract available.
Clinical and Pathological Characterization of Lynch-Like Syndrome.
Picó MD, Castillejo A, Murcia Ó, Giner-Calabuig M, Alustiza M, Sánchez A, Moreira L, Pellise M, Castells A, Carrillo-Palau M, Ramon Y Cajal T, Gisbert-Beamud A, Llort G, Yagüe C, López-Fernández A, Alvarez-Urturi C, Cubiella J, Rivas L, Rodríguez-Alcalde D, Herraiz M, Garau C, Dolz C, Bujanda L, Cid L, Povés C, Garzon M, Salces I, Ponce M, Hernández-Villalba L, Alenda C, Balaguer F, Soto JL, Jover R. Picó MD, et al. Among authors: castillejo a. Clin Gastroenterol Hepatol. 2020 Feb;18(2):368-374.e1. doi: 10.1016/j.cgh.2019.06.012. Epub 2019 Jun 17. Clin Gastroenterol Hepatol. 2020. PMID: 31220642 Free article.
48 results