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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: padilla j. Blood. 2022 Jul 14;140(2):140-151. doi: 10.1182/blood.2021014708. Blood. 2022. PMID: 35486842 Free PMC article.
Amelioration of the severity of heparin-binding antithrombin mutations by posttranslational mosaicism.
Martínez-Martínez I, Navarro-Fernández J, Østergaard A, Gutiérrez-Gallego R, Padilla J, Bohdan N, Miñano A, Pascual C, Martínez C, de la Morena-Barrio ME, Aguila S, Pedersen S, Kristensen SR, Vicente V, Corral J. Martínez-Martínez I, et al. Among authors: padilla j. Blood. 2012 Jul 26;120(4):900-4. doi: 10.1182/blood-2012-01-406207. Epub 2012 Apr 12. Blood. 2012. PMID: 22498748 Free article.
Identification of a New Mechanism of Antithrombin Deficiency Hardly Detected by Current Methods: Duplication of SERPINC1 Exon 6.
de la Morena-Barrio B, de la Morena-Barrio ME, Padilla J, Teruel-Montoya R, Asenjo S, Wypasek E, Undas A, Miñano A, Vicente V, Corral J. de la Morena-Barrio B, et al. Among authors: padilla j. Thromb Haemost. 2018 May;118(5):939-941. doi: 10.1055/s-0038-1637721. Epub 2018 Mar 21. Thromb Haemost. 2018. PMID: 29564838 No abstract available.
Archeogenetics of F11 p.Cys38Arg: a 5400-year-old mutation identified in different southwestern European countries.
de la Morena-Barrio ME, Salloum-Asfar S, Esteban J, de la Morena-Barrio B, Altisent C, Martin-Fernández L, Gueguen P, Padilla J, Miñano A, Parra R, Vicente V, Vidal F, Bauduer F, Carbonell P, Corral J. de la Morena-Barrio ME, et al. Among authors: padilla j. Blood. 2019 Jun 13;133(24):2618-2622. doi: 10.1182/blood.2019000055. Epub 2019 May 1. Blood. 2019. PMID: 31043424 Free 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: padilla j. 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.
Anticoagulant therapy in patients with congenital FXI deficiency.
Bravo-Pérez C, Serna MJ, Esteban J, Fernandez-Mellid E, Fontanes-Trabazo E, Lorenzo A, Calviño-Suárez M, Miñano A, Padilla J, Roldán V, Vicente V, Corral J, de la Morena-Barrio ME. Bravo-Pérez C, et al. Among authors: padilla j. Blood Adv. 2021 Oct 26;5(20):4083-4086. doi: 10.1182/bloodadvances.2021005695. Blood Adv. 2021. PMID: 34597376 Free PMC 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: padilla j. 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.
615 results