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Detection of kinase domain mutations in BCR::ABL1 leukemia by ultra-deep sequencing of genomic DNA.
Sánchez R, Dorado S, Ruíz-Heredia Y, Martín-Muñoz A, Rosa-Rosa JM, Ribera J, García O, Jimenez-Ubieto A, Carreño-Tarragona G, Linares M, Rufián L, Juárez A, Carrillo J, Espino MJ, Cáceres M, Expósito S, Cuevas B, Vanegas R, Casado LF, Torrent A, Zamora L, Mercadal S, Coll R, Cervera M, Morgades M, Hernández-Rivas JÁ, Bravo P, Serí C, Anguita E, Barragán E, Sargas C, Ferrer-Marín F, Sánchez-Calero J, Sevilla J, Ruíz E, Villalón L, Del Mar Herráez M, Riaza R, Magro E, Steegman JL, Wang C, de Toledo P, García-Gutiérrez V, Ayala R, Ribera JM, Barrio S, Martínez-López J. Sánchez R, et al. Among authors: sevilla j. Sci Rep. 2022 Jul 29;12(1):13057. doi: 10.1038/s41598-022-17271-3. Sci Rep. 2022. PMID: 35906470 Free PMC article.
C>A substitution in NT 46 of the 3' UTR region (the α complex protected region) of the alpha-1 globin gene: a non-deletional mutation or polymorphism?
Ropero P, González FA, Nieto JM, Villegas A, Sevilla J, Pérez G, Alonso JM, Recasens V, Abio M, Vagace JM, Vanegas RJ, González Fernández B, Martínez R. Ropero P, et al. Among authors: sevilla j. J Clin Pathol. 2020 Jan;73(1):14-16. doi: 10.1136/jclinpath-2019-206004. Epub 2019 Aug 21. J Clin Pathol. 2020. PMID: 31434698
A typical acute lymphoblastic leukemia JAK2 variant, R683G, causes an aggressive form of familial thrombocytosis when germline.
Carreño-Tarragona G, Varghese LN, Sebastián E, Gálvez E, Marín-Sánchez A, López-Muñoz N, Nam-Cha S, Martínez-López J, Constantinescu SN, Sevilla J, Ayala R. Carreño-Tarragona G, et al. Among authors: sevilla j. Leukemia. 2021 Nov;35(11):3295-3298. doi: 10.1038/s41375-021-01239-9. Epub 2021 Apr 12. Leukemia. 2021. PMID: 33846542 No abstract available.
CRISPR-Cas9 Technology as a Tool to Target Gene Drivers in Cancer: Proof of Concept and New Opportunities to Treat Chronic Myeloid Leukemia.
Vuelta E, Ordoñez JL, Alonso-Pérez V, Méndez L, Hernández-Carabias P, Saldaña R, Sevilla J, Sebastián E, Muntión S, Sánchez-Guijo F, Hernández-Rivas JM, García-Tuñón I, Sánchez-Martín M. Vuelta E, et al. Among authors: sevilla j. CRISPR J. 2021 Aug;4(4):519-535. doi: 10.1089/crispr.2021.0009. CRISPR J. 2021. PMID: 34406033
Venous thromboembolism in pediatric patients with acute lymphoblastic leukemia under chemotherapy treatment. Risk factors and usefulness of thromboprophylaxis. Results of LAL-SEHOP-PETHEMA-2013.
Ruiz-Llobet A, Gassiot S, Sarrate E, Zubicaray J, Dapena JL, Rives S, Sevilla J, Menárguez López Á, Panesso Romero M, Montoya C, Vagace JM, Molina Hurtado JR, García-Morín M, García Abós M, Mendoza Sánchez MC, Lendínez F, Palomo Moraleda P, Tallón M, González B, Urrutia E, Serna JV, Peláez Pleguezuelos I, Martínez Merino M, Ramos Elbal E, Orellana E, Benítez Muñoz H, Berrueco R. Ruiz-Llobet A, et al. Among authors: sevilla j. J Thromb Haemost. 2022 Jun;20(6):1390-1399. doi: 10.1111/jth.15699. Epub 2022 Mar 27. J Thromb Haemost. 2022. PMID: 35289066 Free article.
NHEJ-Mediated Repair of CRISPR-Cas9-Induced DNA Breaks Efficiently Corrects Mutations in HSPCs from Patients with Fanconi Anemia.
Román-Rodríguez FJ, Ugalde L, Álvarez L, Díez B, Ramírez MJ, Risueño C, Cortón M, Bogliolo M, Bernal S, March F, Ayuso C, Hanenberg H, Sevilla J, Rodríguez-Perales S, Torres-Ruiz R, Surrallés J, Bueren JA, Río P. Román-Rodríguez FJ, et al. Among authors: sevilla j. Cell Stem Cell. 2019 Nov 7;25(5):607-621.e7. doi: 10.1016/j.stem.2019.08.016. Epub 2019 Sep 19. Cell Stem Cell. 2019. PMID: 31543367 Free article.
Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies.
Bogliolo M, Pujol R, Aza-Carmona M, Muñoz-Subirana N, Rodriguez-Santiago B, Casado JA, Rio P, Bauser C, Reina-Castillón J, Lopez-Sanchez M, Gonzalez-Quereda L, Gallano P, Catalá A, Ruiz-Llobet A, Badell I, Diaz-Heredia C, Hladun R, Senent L, Argiles B, Bergua Burgues JM, Bañez F, Arrizabalaga B, López Almaraz R, Lopez M, Figuera Á, Molinés A, Pérez de Soto I, Hernando I, Muñoz JA, Del Rosario Marin M, Balmaña J, Stjepanovic N, Carrasco E, Cuesta I, Cosuelo JM, Regueiro A, Moraleda Jimenez J, Galera-Miñarro AM, Rosiñol L, Carrió A, Beléndez-Bieler C, Escudero Soto A, Cela E, de la Mata G, Fernández-Delgado R, Garcia-Pardos MC, Sáez-Villaverde R, Barragaño M, Portugal R, Lendinez F, Hernadez I, Vagace JM, Tapia M, Nieto J, Garcia M, Gonzalez M, Vicho C, Galvez E, Valiente A, Antelo ML, Ancliff P, Garcia F, Dopazo J, Sevilla J, Paprotka T, Pérez-Jurado LA, Bueren J, Surralles J. Bogliolo M, et al. Among authors: sevilla j. J Med Genet. 2020 Apr;57(4):258-268. doi: 10.1136/jmedgenet-2019-106249. Epub 2019 Oct 5. J Med Genet. 2020. PMID: 31586946
218 results