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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. Among authors: cifuentes r. 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.
Genotype-phenotype gradient of SERPINC1 variants in a single family reveals a severe compound antithrombin deficiency in a dead embryo.
Bravo-Pérez C, de la Morena-Barrio ME, Palomo A, Entrena L, de la Morena-Barrio B, Padilla J, Miñano A, Navarro E, Cifuentes R, Corral J, Vicente V. Bravo-Pérez C, et al. Among authors: cifuentes r. Br J Haematol. 2020 Oct;191(1):e32-e35. doi: 10.1111/bjh.16963. Epub 2020 Jul 19. Br J Haematol. 2020. PMID: 32686144 Free article. No abstract available.
A pilot study on the impact of congenital thrombophilia in COVID-19.
de la Morena-Barrio ME, Bravo-Pérez C, de la Morena-Barrio B, Orlando C, Cifuentes R, Padilla J, Miñano A, Herrero S, Marcellini S, Revilla N, Bernal E, Gómez-Verdú JM, Jochmans K, Herranz MT, Vicente V, Corral J, Lozano ML. de la Morena-Barrio ME, et al. Among authors: cifuentes r. Eur J Clin Invest. 2021 May;51(5):e13546. doi: 10.1111/eci.13546. Epub 2021 Mar 25. Eur J Clin Invest. 2021. PMID: 33738814 Free PMC article. No abstract available.
Two SERPINC1 variants affecting N-glycosylation of Asn224 cause severe thrombophilia not detected by functional assays.
de la Morena-Barrio ME, Suchon P, Jacobsen EM, Iversen N, Miñano A, de la Morena-Barrio B, Bravo-Pérez C, Padilla J, Cifuentes R, Asenjo S, Deleuze JF, Trégouët DA, Lozano ML, Vicente V, Sandset PM, Morange PE, Corral J. de la Morena-Barrio ME, et al. Among authors: cifuentes r. Blood. 2022 Jul 14;140(2):140-151. doi: 10.1182/blood.2021014708. Blood. 2022. PMID: 35486842 Free PMC article.
Impact of genetic structural variants in factor XI deficiency: identification, accurate characterization, and inferred mechanism by long-read sequencing.
de la Morena-Barrio B, Palomo Á, Padilla J, Martín-Fernández L, Rojo-Carrillo JJ, Cifuentes R, Bravo-Pérez C, Garrido-Rodríguez P, Miñano A, Rubio AM, Pagán J, Llamas M, Vicente V, Vidal F, Lozano ML, Corral J, de la Morena-Barrio ME. de la Morena-Barrio B, et al. Among authors: cifuentes r. J Thromb Haemost. 2023 Jul;21(7):1779-1788. doi: 10.1016/j.jtha.2023.03.009. Epub 2023 Mar 20. J Thromb Haemost. 2023. PMID: 36940803
miR-146a rs2431697 identifies myeloproliferative neoplasm patients with higher secondary myelofibrosis progression risk.
Ferrer-Marín F, Arroyo AB, Bellosillo B, Cuenca EJ, Zamora L, Hernández-Rivas JM, Hernández-Boluda JC, Fernandez-Rodriguez C, Luño E, García Hernandez C, Kerguelen A, Fiallo-Suárez DV, Gómez-Casares MT, Ayala R, Vélez P, Boqué C, García-Gutierrez V, Arrizabalaga B, Estrada N, Cifuentes R, Arcas I, de Los Reyes-García AM, Besses C, Vicente V, Alvarez-Larrán A, Teruel-Montoya R, González-Conejero R, Martínez C; GEMFIN Group. Ferrer-Marín F, et al. Among authors: cifuentes r. Leukemia. 2020 Oct;34(10):2648-2659. doi: 10.1038/s41375-020-0767-3. Epub 2020 Feb 27. Leukemia. 2020. PMID: 32107471
Cancer testis antigens in myelodysplastic syndromes revisited: a targeted RNA-seq approach.
Hurtado López AM, Chen-Liang TH, Zurdo M, Carrillo-Tornel S, Panadero J, Salido EJ, Beltrán V, Muiña B, Amigo M, Navarro-Villamor N, Cifuentes R, Calabria I, Antón AI, Teruel R, Muro M, Vicente V, Jerez A. Hurtado López AM, et al. Among authors: cifuentes r. Oncoimmunology. 2020 Oct 1;9(1):1824642. doi: 10.1080/2162402X.2020.1824642. Oncoimmunology. 2020. PMID: 33101773 Free PMC article.
A Multicenter Retrospective Cohort Study to Characterize Patients Hospitalized With Multisystem Inflammatory Syndrome in Adults and Coronavirus Disease 2019 in the United States, 2020-2021.
Melgar M, Abrams JY, Godfred-Cato S, Shah AB, Garg A, Strunk A, Narasimhan M, Koptyev J, Norden A, Musheyev D, Rashid F, Tannenbaum R, Estrada-Y-Martin RM, Patel B, Karanth S, Achenbach CJ, Hall GT, Hockney SM, Caputo M, Abbo LM, Beauchamps L, Morris S, Cifuentes RO, de St Maurice A, Bell DS, Prabaker KK, Sanz Vidorreta FJ, Bryant E, Cohen DK, Mohan R, Libby CP, SooHoo S, Domingo TJ, Campbell AP, Belay ED. Melgar M, et al. Among authors: cifuentes ro. Clin Infect Dis. 2023 Nov 17;77(10):1395-1405. doi: 10.1093/cid/ciad374. Clin Infect Dis. 2023. PMID: 37384794
69 results