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Page 1
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.
Antithrombin Dublin (p.Val30Glu): a relatively common variant with moderate thrombosis risk of causing transient antithrombin deficiency.
Navarro-Fernández J, de la Morena-Barrio ME, Padilla J, Miñano A, Bohdan N, Águila S, Martínez-Martínez I, Sevivas TS, de Cos C, Fernández-Mosteirín N, Llamas P, Asenjo S, Medina P, Souto JC, Overvad K, Kristensen SR, Corral J, Vicente V. Navarro-Fernández J, et al. Among authors: padilla j. Thromb Haemost. 2016 Jul 4;116(1):146-54. doi: 10.1160/TH15-11-0871. Epub 2016 Apr 21. Thromb Haemost. 2016. PMID: 27098529
High levels of latent antithrombin in plasma from patients with antithrombin deficiency.
de la Morena-Barrio M, Sandoval E, Llamas P, Wypasek E, Toderici M, Navarro-Fernández J, Rodríguez-Alen A, Revilla N, López-Gálvez R, Miñano A, Padilla J, de la Morena-Barrio B, Cuesta J, Corral J, Vicente V. de la Morena-Barrio M, et al. Among authors: padilla j. Thromb Haemost. 2017 May 3;117(5):880-888. doi: 10.1160/TH16-11-0866. Epub 2017 Feb 23. Thromb Haemost. 2017. PMID: 28229161
Identification of the first large intronic deletion responsible of type I antithrombin deficiency not detected by routine molecular diagnostic methods.
De la Morena-Barrio B, Borràs N, Rodríguez-Alén A, de la Morena-Barrio ME, García-Hernández JL, Padilla J, Bravo-Pérez C, Miñano A, Rollón N, Corral J, Vidal F, Vicente V. De la Morena-Barrio B, et al. Among authors: padilla j. Br J Haematol. 2019 Aug;186(4):e82-e86. doi: 10.1111/bjh.15913. Epub 2019 Apr 2. Br J Haematol. 2019. PMID: 30941754 Free 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: padilla j. Blood. 2022 Jul 14;140(2):140-151. doi: 10.1182/blood.2021014708. Blood. 2022. PMID: 35486842 Free PMC article.
Long-Read Sequencing Identifies the First Retrotransposon Insertion and Resolves Structural Variants Causing Antithrombin Deficiency.
de la Morena-Barrio B, Stephens J, de la Morena-Barrio ME, Stefanucci L, Padilla J, Miñano A, Gleadall N, García JL, López-Fernández MF, Morange PE, Puurunen M, Undas A, Vidal F, Raymond FL, Vicente V, Ouwehand WH, Corral J, Sanchis-Juan A; NIHR BioResource. de la Morena-Barrio B, et al. Among authors: padilla j. Thromb Haemost. 2022 Aug;122(8):1369-1378. doi: 10.1055/s-0042-1749345. Epub 2022 Jun 28. Thromb Haemost. 2022. PMID: 35764313 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.
647 results