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261 results

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Page 1
Novel variants in GALE cause syndromic macrothrombocytopenia by disrupting glycosylation and thrombopoiesis.
Marín-Quílez A, Di Buduo CA, Díaz-Ajenjo L, Abbonante V, Vuelta E, Soprano PM, Miguel-García C, Santos-Mínguez S, Serramito-Gómez I, Ruiz-Sala P, Peñarrubia MJ, Pardal E, Hernández-Rivas JM, González-Porras JR, García-Tuñón I, Benito R, Rivera J, Balduini A, Bastida JM. Marín-Quílez A, et al. Among authors: benito r. Blood. 2023 Jan 26;141(4):406-421. doi: 10.1182/blood.2022016995. Blood. 2023. PMID: 36395340 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. Among authors: benito r. PLoS One. 2012;7(11):e48485. doi: 10.1371/journal.pone.0048485. Epub 2012 Nov 13. PLoS One. 2012. PMID: 23152777 Free PMC article.
Prognostic impact of the number of methylated genes in myelodysplastic syndromes and acute myeloid leukemias treated with azacytidine.
Abáigar M, Ramos F, Benito R, Díez-Campelo M, Sánchez-del-Real J, Hermosín L, Rodríguez JN, Aguilar C, Recio I, Alonso JM, de las Heras N, Megido M, Fuertes M, del Cañizo MC, Hernández-Rivas JM. Abáigar M, et al. Among authors: benito r. Ann Hematol. 2013 Nov;92(11):1543-52. doi: 10.1007/s00277-013-1799-9. Epub 2013 Jun 6. Ann Hematol. 2013. PMID: 23740492
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. Among authors: benito r. PLoS One. 2015 May 8;10(5):e0126555. doi: 10.1371/journal.pone.0126555. eCollection 2015. PLoS One. 2015. PMID: 25955609 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. Among authors: benito r. Haemophilia. 2016 Jul;22(4):590-7. doi: 10.1111/hae.12908. Epub 2016 Feb 15. Haemophilia. 2016. PMID: 26879396
Application of a molecular diagnostic algorithm for haemophilia A and B using next-generation sequencing of entire F8, F9 and VWF genes.
Bastida JM, González-Porras JR, Jiménez C, Benito R, Ordoñez GR, Álvarez-Román MT, Fontecha ME, Janusz K, Castillo D, Fisac RM, García-Frade LJ, Aguilar C, Martínez MP, Bermejo N, Herrero S, Balanzategui A, Martin-Antorán JM, Ramos R, Cebeiro MJ, Pardal E, Aguilera C, Pérez-Gutierrez B, Prieto M, Riesco S, Mendoza MC, Benito A, Hortal Benito-Sendin A, Jiménez-Yuste V, Hernández-Rivas JM, García-Sanz R, González-Díaz M, Sarasquete ME. Bastida JM, et al. Among authors: benito r, benito a. Thromb Haemost. 2017 Jan 5;117(1):66-74. doi: 10.1160/TH16-05-0375. Epub 2016 Oct 13. Thromb Haemost. 2017. PMID: 27734074
Wiskott-Aldrich syndrome in a child presenting with macrothrombocytopenia.
Bastida JM, Del Rey M, Revilla N, Benito R, Perez-Andrés M, González B, Riesco S, Janusz K, Padilla J, Hortal Benito-Sendin A, Bueno D, Blanco E, Hernández-Rivas M, Vicente V, Rivera J, González-Porras R, Lozano ML. Bastida JM, et al. Among authors: benito r. Platelets. 2017 Jun;28(4):417-420. doi: 10.1080/09537104.2016.1246715. Epub 2016 Nov 25. Platelets. 2017. PMID: 27885891
The CRISPR/Cas9 system efficiently reverts the tumorigenic ability of BCR/ABL in vitro and in a xenograft model of chronic myeloid leukemia.
García-Tuñón I, Hernández-Sánchez M, Ordoñez JL, Alonso-Pérez V, Álamo-Quijada M, Benito R, Guerrero C, Hernández-Rivas JM, Sánchez-Martín M. García-Tuñón I, et al. Among authors: benito r. Oncotarget. 2017 Apr 18;8(16):26027-26040. doi: 10.18632/oncotarget.15215. Oncotarget. 2017. PMID: 28212528 Free PMC article.
A two-step approach for sequencing spliceosome-related genes as a complementary diagnostic assay in MDS patients with ringed sideroblasts.
Janusz K, Del Rey M, Abáigar M, Collado R, Ivars D, Hernández-Sánchez M, Valiente A, Robledo C, Benito R, Díez-Campelo M, Ramos F, Kohlmann A, Cañizo CD, Hernández-Rivas JM. Janusz K, et al. Among authors: benito r. Leuk Res. 2017 May;56:82-87. doi: 10.1016/j.leukres.2017.01.031. Epub 2017 Feb 4. Leuk Res. 2017. PMID: 28222336
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. Among authors: benito r. 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.
261 results