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Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders.
Bastida JM, Lozano ML, Benito R, Janusz K, Palma-Barqueros V, Del Rey M, Hernández-Sánchez JM, Riesco S, Bermejo N, González-García H, Rodriguez-Alén A, Aguilar C, Sevivas T, López-Fernández MF, Marneth AE, van der Reijden BA, Morgan NV, Watson SP, Vicente V, Hernández-Rivas JM, Rivera J, González-Porras JR. Bastida JM, et al. Haematologica. 2018 Jan;103(1):148-162. doi: 10.3324/haematol.2017.171132. Epub 2017 Oct 5. Haematologica. 2018. PMID: 28983057 Free PMC article.
Molecular characterization of chronic lymphocytic leukemia patients with a high number of losses in 13q14.
Rodríguez AE, Hernández JÁ, Benito R, Gutiérrez NC, García JL, Hernández-Sánchez M, Risueño A, Sarasquete ME, Fermiñán E, Fisac R, de Coca AG, Martín-Núñez G, de Las Heras N, Recio I, Gutiérrez O, De Las Rivas J, González M, Hernández-Rivas JM. Rodríguez AE, et al. PLoS One. 2012;7(11):e48485. doi: 10.1371/journal.pone.0048485. Epub 2012 Nov 13. PLoS One. 2012. PMID: 23152777 Free PMC article.
Deregulation of genes related to iron and mitochondrial metabolism in refractory anemia with ring sideroblasts.
del Rey M, Benito R, Fontanillo C, Campos-Laborie FJ, Janusz K, Velasco-Hernández T, Abáigar M, Hernández M, Cuello R, Borrego D, Martín-Zanca D, De Las Rivas J, Mills KI, Hernández-Rivas JM. del Rey M, et al. PLoS One. 2015 May 8;10(5):e0126555. doi: 10.1371/journal.pone.0126555. eCollection 2015. PLoS One. 2015. PMID: 25955609 Free PMC article.
The presence of genomic imbalances is associated with poor outcome in patients with burkitt lymphoma treated with dose-intensive chemotherapy including rituximab.
Forero-Castro M, Robledo C, Lumbreras E, Benito R, Hernández-Sánchez JM, Hernández-Sánchez M, García JL, Corchete-Sánchez LA, Tormo M, Barba P, Menárguez J, Ribera J, Grande C, Escoda L, Olivier C, Carrillo E, García de Coca A, Ribera JM, Hernández-Rivas JM. Forero-Castro M, et al. Br J Haematol. 2016 Feb;172(3):428-38. doi: 10.1111/bjh.13849. Epub 2015 Nov 16. Br J Haematol. 2016. PMID: 26567765 Free article.
Genome-Wide DNA Copy Number Analysis of Acute Lymphoblastic Leukemia Identifies New Genetic Markers Associated with Clinical Outcome.
Forero-Castro M, Robledo C, Benito R, Abáigar M, África Martín A, Arefi M, Fuster JL, de Las Heras N, Rodríguez JN, Quintero J, Riesco S, Hermosín L, de la Fuente I, Recio I, Ribera J, Labrador J, Alonso JM, Olivier C, Sierra M, Megido M, Corchete-Sánchez LA, Ciudad Pizarro J, García JL, Ribera JM, Hernández-Rivas JM. Forero-Castro M, et al. PLoS One. 2016 Feb 12;11(2):e0148972. doi: 10.1371/journal.pone.0148972. eCollection 2016. PLoS One. 2016. PMID: 26872047 Free PMC article.
Design and application of a 23-gene panel by next-generation sequencing for inherited coagulation bleeding disorders.
Bastida JM, Del Rey M, Lozano ML, Sarasquete ME, Benito R, Fontecha ME, Fisac R, García-Frade LJ, Aguilar C, Martínez MP, Pardal E, Aguilera C, Pérez B, Ramos R, Cardesa MR, Martin-Antorán JM, Silvestre LA, Cebeira MJ, Bermejo N, Riesco S, Mendoza MC, García-Sanz R, González-Díaz M, Hernández-Rivas JM, González-Porras JR. Bastida JM, et al. Haemophilia. 2016 Jul;22(4):590-7. doi: 10.1111/hae.12908. Epub 2016 Feb 15. Haemophilia. 2016. PMID: 26879396
Uniparental disomy causes deficiencies of vitamin K-dependent proteins.
Dasi MA, Gonzalez-Conejero R, Izquierdo S, Padilla J, Garcia JL, Garcia-Barberá N, Argilés B, de la Morena-Barrio ME, Hernández-Sánchez JM, Hernández-Rivas JM, Vicente V, Corral J. Dasi MA, et al. J Thromb Haemost. 2016 Dec;14(12):2410-2418. doi: 10.1111/jth.13517. Epub 2016 Nov 19. J Thromb Haemost. 2016. PMID: 27681307 Free article.
Chromothripsis Is a Recurrent Genomic Abnormality in High-Risk Myelodysplastic Syndromes.
Abáigar M, Robledo C, Benito R, Ramos F, Díez-Campelo M, Hermosín L, Sánchez-Del-Real J, Alonso JM, Cuello R, Megido M, Rodríguez JN, Martín-Núñez G, Aguilar C, Vargas M, Martín AA, García JL, Kohlmann A, Del Cañizo MC, Hernández-Rivas JM. Abáigar M, et al. PLoS One. 2016 Oct 14;11(10):e0164370. doi: 10.1371/journal.pone.0164370. eCollection 2016. PLoS One. 2016. PMID: 27741277 Free PMC article.
Two novel variants of the ABCG5 gene cause xanthelasmas and macrothrombocytopenia: a brief review of hematologic abnormalities of sitosterolemia.
Bastida JM, Benito R, Janusz K, Díez-Campelo M, Hernández-Sánchez JM, Marcellini S, Girós M, Rivera J, Lozano ML, Hortal A, Hernández-Rivas JM, González-Porras JR. Bastida JM, et al. J Thromb Haemost. 2017 Sep;15(9):1859-1866. doi: 10.1111/jth.13777. Epub 2017 Aug 5. J Thromb Haemost. 2017. PMID: 28696550 Free article. Review.
178 results