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647 results

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Page 1
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.
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.
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 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.
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.
647 results