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Page 1
Molecular Dissection of Structural Variations Involved in Antithrombin Deficiency.
de la Morena-Barrio B, Orlando C, Sanchis-Juan A, García JL, Padilla J, de la Morena-Barrio ME, Puruunen M, Stouffs K, Cifuentes R, Borràs N, Bravo-Pérez C, Benito R, Cuenca-Guardiola J, Vicente V, Vidal F, Hernández-Rivas JM, Ouwehand W, Jochmans K, Corral J. de la Morena-Barrio B, et al. J Mol Diagn. 2022 May;24(5):462-475. doi: 10.1016/j.jmoldx.2022.01.009. Epub 2022 Feb 23. J Mol Diagn. 2022. PMID: 35218943 Free 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.
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.
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.
Integrated Genomic Analysis of Chromosomal Alterations and Mutations in B-Cell Acute Lymphoblastic Leukemia Reveals Distinct Genetic Profiles at Relapse.
Forero-Castro M, Montaño A, Robledo C, García de Coca A, Fuster JL, de Las Heras N, Queizán JA, Hernández-Sánchez M, Corchete-Sánchez LA, Martín-Izquierdo M, Ribera J, Ribera JM, Benito R, Hernández-Rivas JM. Forero-Castro M, et al. Diagnostics (Basel). 2020 Jul 4;10(7):455. doi: 10.3390/diagnostics10070455. Diagnostics (Basel). 2020. PMID: 32635531 Free PMC article.
178 results