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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: vidal f. 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.
Molecular and clinical profile of von Willebrand disease in Spain (PCM-EVW-ES): Proposal for a new diagnostic paradigm.
Batlle J, Pérez-Rodríguez A, Corrales I, López-Fernández MF, Rodríguez-Trillo Á, Lourés E, Cid AR, Bonanad S, Cabrera N, Moret A, Parra R, Mingot-Castellano ME, Balda I, Altisent C, Pérez-Montes R, Fisac RM, Iruín G, Herrero S, Soto I, de Rueda B, Jiménez-Yuste V, Alonso N, Vilariño D, Arija O, Campos R, Paloma MJ, Bermejo N, Toll T, Mateo J, Arribalzaga K, Marco P, Palomo Á, Sarmiento L, Iñigo B, Nieto Mdel M, Vidal R, Martínez MP, Aguinaco R, César JM, Ferreiro M, García-Frade J, Rodríguez-Huerta AM, Cuesta J, Rodríguez-González R, García-Candel F, Cornudella R, Aguilar C, Borràs N, Vidal F. Batlle J, et al. Among authors: vidal r, vidal f. Thromb Haemost. 2016 Jan;115(1):40-50. doi: 10.1160/TH15-04-0282. Epub 2015 Aug 6. Thromb Haemost. 2016. PMID: 26245874
Molecular and clinical profile of von Willebrand disease in Spain (PCM-EVW-ES): comprehensive genetic analysis by next-generation sequencing of 480 patients.
Borràs N, Batlle J, Pérez-Rodríguez A, López-Fernández MF, Rodríguez-Trillo Á, Lourés E, Cid AR, Bonanad S, Cabrera N, Moret A, Parra R, Mingot-Castellano ME, Balda I, Altisent C, Pérez-Montes R, Fisac RM, Iruín G, Herrero S, Soto I, de Rueda B, Jiménez-Yuste V, Alonso N, Vilariño D, Arija O, Campos R, Paloma MJ, Bermejo N, Berrueco R, Mateo J, Arribalzaga K, Marco P, Palomo Á, Sarmiento L, Iñigo B, Nieto MDM, Vidal R, Martínez MP, Aguinaco R, César JM, Ferreiro M, García-Frade J, Rodríguez-Huerta AM, Cuesta J, Rodríguez-González R, García-Candel F, Cornudella R, Aguilar C, Vidal F, Corrales I. Borràs N, et al. Among authors: vidal r, vidal f. Haematologica. 2017 Dec;102(12):2005-2014. doi: 10.3324/haematol.2017.168765. Epub 2017 Sep 29. Haematologica. 2017. PMID: 28971901 Free PMC article.
Combined study of ADAMTS13 and complement genes in the diagnosis of thrombotic microangiopathies using next-generation sequencing.
Fidalgo T, Martinho P, Pinto CS, Oliveira AC, Salvado R, Borràs N, Coucelo M, Manco L, Maia T, Mendes MJ, Del Orbe Barreto R, Corrales I, Vidal F, Ribeiro ML. Fidalgo T, et al. Among authors: vidal f. Res Pract Thromb Haemost. 2017 Jun 23;1(1):69-80. doi: 10.1002/rth2.12016. eCollection 2017 Jul. Res Pract Thromb Haemost. 2017. PMID: 30046676 Free PMC article.
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: vidal f. 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.
1,073 results