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2020 1
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Full-length antithrombin frameshift variant with aberrant C-terminus causes endoplasmic reticulum retention with a dominant-negative effect.
Bravo-Pérez C, Toderici M, Chambers JE, Martínez-Menárguez JA, Garrido-Rodriguez P, Pérez-Sanchez H, de la Morena-Barrio B, Padilla J, Miñano A, Cifuentes-Riquelme R, Vicente V, Lozano ML, Marciniak SJ, de la Morena-Barrio ME, Corral J. Bravo-Pérez C, et al. Among authors: cifuentes riquelme r. JCI Insight. 2022 Oct 10;7(19):e161430. doi: 10.1172/jci.insight.161430. JCI Insight. 2022. PMID: 36214221 Free PMC article.
The whole is greater than the sum of its parts: Long-read sequencing for solving clinical problems in haematology.
Bravo-Perez C, Cifuentes-Riquelme R, Padilla J, de la Morena-Barrio ME, Ortuño FJ, Garrido-Rodríguez P, Amigo ML, Heras I, Vicente V, Lozano ML, Teruel-Montoya R, de la Morena-Barrio B, Corral J. Bravo-Perez C, et al. Among authors: cifuentes riquelme r. J Cell Mol Med. 2024 Feb;28(3):e17961. doi: 10.1111/jcmm.17961. Epub 2024 Jan 23. J Cell Mol Med. 2024. PMID: 38260950 Free PMC article. No abstract available.
High penetrance of inferior vena cava system atresia in severe thrombophilia caused by homozygous antithrombin Budapest 3 variant: Description of a new syndrome.
de la Morena-Barrio ME, Gindele R, Bravo-Pérez C, Ilonczai P, Zuazu I, Speker M, Oláh Z, Rodríguez-Sevilla JJ, Entrena L, Infante MS, de la Morena-Barrio B, García JM, Schlammadinger Á, Cifuentes-Riquelme R, Mora-Casado A, Miñano A, Padilla J, Vicente V, Corral J, Bereczky Z. de la Morena-Barrio ME, et al. Among authors: cifuentes riquelme r. Am J Hematol. 2021 Nov 1;96(11):1363-1373. doi: 10.1002/ajh.26304. Epub 2021 Aug 12. Am J Hematol. 2021. PMID: 34324211 Free article.
Pilot Study on the Role of Circulating miRNAs for the Improvement of the Predictive Ability of the 2MACE Score in Patients with Atrial Fibrillation.
Rivera-Caravaca JM, Teruel-Montoya R, Roldán V, Cifuentes-Riquelme R, Crespo-Matas JA, de Los Reyes-García AM, Águila S, Fernández-Pérez MP, Reguilón-Gallego L, Zapata-Martínez L, García-Barberá N, Vicente V, Marín F, Martínez C, González-Conejero R. Rivera-Caravaca JM, et al. Among authors: cifuentes riquelme r. J Clin Med. 2020 Nov 12;9(11):3645. doi: 10.3390/jcm9113645. J Clin Med. 2020. PMID: 33198388 Free PMC article.