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Next generation sequencing to dissect the genetic architecture of KNG1 and F11 loci using factor XI levels as an intermediate phenotype of thrombosis.
Martin-Fernandez L, Gavidia-Bovadilla G, Corrales I, Brunel H, Ramírez L, López S, Souto JC, Vidal F, Soria JM. Martin-Fernandez L, et al. Among authors: corrales i. PLoS One. 2017 Apr 26;12(4):e0176301. doi: 10.1371/journal.pone.0176301. eCollection 2017. PLoS One. 2017. PMID: 28445521 Free PMC article.
Genotype-phenotype correlation in a cohort of Portuguese patients comprising the entire spectrum of VWD types: impact of NGS.
Fidalgo T, Salvado R, Corrales I, Pinto SC, Borràs N, Oliveira A, Martinho P, Ferreira G, Almeida H, Oliveira C, Marques D, Gonçalves E, Diniz M, Antunes M, Tavares A, Caetano G, Kjöllerström P, Maia R, Sevivas TS, Vidal F, Ribeiro L. Fidalgo T, et al. Among authors: corrales i. Thromb Haemost. 2016 Jul 4;116(1):17-31. doi: 10.1160/TH15-07-0604. Epub 2016 Mar 17. Thromb Haemost. 2016. PMID: 26988807
Advanced cell-based modeling of the royal disease: characterization of the mutated F9 mRNA.
Martorell L, Luce E, Vazquez JL, Richaud-Patin Y, Jimenez-Delgado S, Corrales I, Borras N, Casacuberta-Serra S, Weber A, Parra R, Altisent C, Follenzi A, Dubart-Kupperschmitt A, Raya A, Vidal F, Barquinero J. Martorell L, et al. Among authors: corrales i. J Thromb Haemost. 2017 Nov;15(11):2188-2197. doi: 10.1111/jth.13808. Epub 2017 Sep 25. J Thromb Haemost. 2017. PMID: 28834196 Free article.
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: corrales i. Haematologica. 2017 Dec;102(12):2005-2014. doi: 10.3324/haematol.2017.168765. Epub 2017 Sep 29. Haematologica. 2017. PMID: 28971901 Free PMC article.
57 results