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A Validated Highly Sensitive Microsatellite Instability Assay Accurately Identifies Individuals Harboring Biallelic Germline PMS2 Pathogenic Variants in Constitutional Mismatch Repair Deficiency.
Marín F, Canet-Hermida J, Bianchi V, Chung J, Wimmer K, Foulkes W, Pérez-Alonso V, Domínguez-Pinilla N, Sábado C, Vázquez-Gómez F, Molinés A, Fioravantti V, Carrasco E, Stengs L, Edwards M, Negm L, Das A, Aronson M, Pastor Á, Rueda D, González-Granado LI, Tabori U, Capellá G, Pineda M. Marín F, et al. Clin Chem. 2024 May 2;70(5):737-746. doi: 10.1093/clinchem/hvae027. Clin Chem. 2024. PMID: 38531023
High-sensitivity microsatellite instability assessment for the detection of mismatch repair defects in normal tissue of biallelic germline mismatch repair mutation carriers.
González-Acosta M, Marín F, Puliafito B, Bonifaci N, Fernández A, Navarro M, Salvador H, Balaguer F, Iglesias S, Velasco A, Grau Garces E, Moreno V, Gonzalez-Granado LI, Guerra-García P, Ayala R, Florkin B, Kratz C, Ripperger T, Rosenbaum T, Januszkiewicz-Lewandowska D, Azizi AA, Ragab I, Nathrath M, Pander HJ, Lobitz S, Suerink M, Dahan K, Imschweiler T, Demirsoy U, Brunet J, Lázaro C, Rueda D, Wimmer K, Capellá G, Pineda M. González-Acosta M, et al. Among authors: marin f. J Med Genet. 2020 Apr;57(4):269-273. doi: 10.1136/jmedgenet-2019-106272. Epub 2019 Sep 7. J Med Genet. 2020. PMID: 31494577 Free PMC article.
Highly sensitive MLH1 methylation analysis in blood identifies a cancer patient with low-level mosaic MLH1 epimutation.
Dámaso E, Canet-Hermida J, Vargas-Parra G, Velasco À, Marín F, Darder E, Del Valle J, Fernández A, Izquierdo À, Mateu G, Oliveras G, Escribano C, Piñol V, Uchima HI, Soto JL, Hitchins M, Farrés R, Lázaro C, Queralt B, Brunet J, Capellá G, Pineda M. Dámaso E, et al. Among authors: marin f. Clin Epigenetics. 2019 Nov 28;11(1):171. doi: 10.1186/s13148-019-0762-6. Clin Epigenetics. 2019. PMID: 31779681 Free PMC article.
Highly Sensitive Microsatellite Instability and Immunohistochemistry Assessment in Endometrial Aspirates as a Tool for Cancer Risk Individualization in Lynch Syndrome.
Canet-Hermida J, Marín F, Dorca E, Dueñas N, Costas L, Salinas M, Velasco À, Peremiquel-Trillas P, Paytubi S, Ponce J, Fernández S, Martínez JM, Cárdenas L, Taltavull A, Alemany L, Meléndez C, Oliveras G, Vidal A, Capellá G, López-Bonet E, Brunet J, Matias-Guiu X, Pineda M. Canet-Hermida J, et al. Among authors: marin f. Mod Pathol. 2023 Jul;36(7):100158. doi: 10.1016/j.modpat.2023.100158. Epub 2023 Mar 12. Mod Pathol. 2023. PMID: 36918055 Free 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: marin f. 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.
Comprehensive Constitutional Genetic and Epigenetic Characterization of Lynch-Like Individuals.
Dámaso E, González-Acosta M, Vargas-Parra G, Navarro M, Balmaña J, Ramon Y Cajal T, Tuset N, Thompson BA, Marín F, Fernández A, Gómez C, Velasco À, Solanes A, Iglesias S, Urgel G, López C, Del Valle J, Campos O, Santacana M, Matias-Guiu X, Lázaro C, Valle L, Brunet J, Pineda M, Capellá G. Dámaso E, et al. Among authors: marin f. Cancers (Basel). 2020 Jul 5;12(7):1799. doi: 10.3390/cancers12071799. Cancers (Basel). 2020. PMID: 32635641 Free PMC article.
An Integrated Approach for the Early Detection of Endometrial and Ovarian Cancers (Screenwide Study): Rationale, Study Design and Pilot Study.
Peremiquel-Trillas P, Paytubi S, Pelegrina B, Frias-Gomez J, Carmona Á, Martínez JM, de Francisco J, Benavente Y, Barahona M, Briansó F, Canet-Hermida J, Caño V, Vidal A, Zanca A, Baixeras N, Rodríguez A, Fernández-Gonzalez S, Dueñas N, Càrdenas L, Aytés Á, Bianchi I, Pavón MÀ, Reventós J, Capellà G, Gómez D, Diaz M, Ponce J, Brunet J, Matias-Guiu X, Bosch FX, de Sanjosé S, Alemany L, Pineda M, Marin F, Costas L. Peremiquel-Trillas P, et al. Among authors: marin f. J Pers Med. 2022 Jun 29;12(7):1074. doi: 10.3390/jpm12071074. J Pers Med. 2022. PMID: 35887570 Free PMC article.
Evaluation of Somatic Mutations in Urine Samples as a Noninvasive Method for the Detection and Molecular Classification of Endometrial Cancer.
Costas L, Onieva I, Pelegrina B, Marin F, Carmona Á, López-Querol M, Frias-Gomez J, Peremiquel-Trillas P, Martínez JM, Dorca E, Brunet J, Pineda M, Ponce J, Matias-Guiu X, de Sanjosé S, Bosch FX, Alemany L, Paytubi S. Costas L, et al. Among authors: marin f. Clin Cancer Res. 2023 Sep 15;29(18):3681-3690. doi: 10.1158/1078-0432.CCR-23-0367. Clin Cancer Res. 2023. PMID: 37439797
Evaluation of somatic mutations in cervicovaginal samples as a non-invasive method for the detection and molecular classification of endometrial cancer.
Pelegrina B, Paytubi S, Marin F, Martínez JM, Carmona Á, Frias-Gomez J, Peremiquel-Trillas P, Dorca E, Zanca A, López-Querol M, Onieva I, Benavente Y, Barahona M, Fernandez-Gonzalez S, De Francisco J, Caño V, Vidal A, Pijuan L, Canet-Hermida J, Dueñas N, Brunet J, Pineda M, Matias-Guiu X, Ponce J, Bosch FX, De Sanjosé S, Alemany L, Costas L. Pelegrina B, et al. Among authors: marin f. EBioMedicine. 2023 Aug;94:104716. doi: 10.1016/j.ebiom.2023.104716. Epub 2023 Jul 20. EBioMedicine. 2023. PMID: 37480623 Free PMC article.
1,152 results