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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: loures e. Haematologica. 2017 Dec;102(12):2005-2014. doi: 10.3324/haematol.2017.168765. Epub 2017 Sep 29. Haematologica. 2017. PMID: 28971901 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: loures e. Thromb Haemost. 2016 Jan;115(1):40-50. doi: 10.1160/TH15-04-0282. Epub 2015 Aug 6. Thromb Haemost. 2016. PMID: 26245874
Role of multimeric analysis of von Willebrand factor (VWF) in von Willebrand disease (VWD) diagnosis: Lessons from the PCM-EVW-ES Spanish project.
Pérez-Rodríguez A, Batlle J, Corrales I, Borràs N, Rodríguez-Trillo Á, Lourés E, Cid AR, Bonanad S, Cabrera N, Moret A, Parra R, Mingot-Castellano ME, Navarro N, Altisent C, Pérez-Montes R, Marcellini S, Moreto A, Herrero S, Soto I, Fernández Mosteirín N, Jiménez-Yuste V, Alonso N, de Andrés Jacob A, Fontanes E, Campos R, Paloma MJ, Bermejo N, Berrueco R, Mateo J, Arribalzaga K, Marco P, Palomo Á, Castro Quismondo N, Iñigo B, Nieto MDM, Vidal R, Martínez MP, Aguinaco R, Tenorio M, Ferreiro M, García-Frade J, Rodríguez-Huerta AM, Cuesta J, Rodríguez-González R, García-Candel F, Dobón M, Aguilar C, Batlle F, Vidal F, López-Fernández MF. Pérez-Rodríguez A, et al. Among authors: loures e. PLoS One. 2018 Jun 20;13(6):e0197876. doi: 10.1371/journal.pone.0197876. eCollection 2018. PLoS One. 2018. PMID: 29924855 Free PMC article.
Unraveling the effect of silent, intronic and missense mutations on VWF splicing: contribution of next generation sequencing in the study of mRNA.
Borràs N, Orriols G, Batlle J, Pérez-Rodríguez A, Fidalgo T, Martinho P, López-Fernández MF, Rodríguez-Trillo Á, Lourés E, Parra R, Altisent C, Cid AR, Bonanad S, Cabrera N, Moret A, Mingot-Castellano ME, Navarro N, Pérez-Montes R, Marcellin S, Moreto A, Herrero S, Soto I, Fernández-Mosteirín N, Jiménez-Yuste V, Alonso N, de Andrés-Jacob A, Fontanes E, Campos R, Paloma MJ, Bermejo N, Berrueco R, Mateo J, Arribalzaga K, Marco P, Palomo Á, Quismondo NC, Iñigo B, Nieto MDM, Vidal R, Martínez MP, Aguinaco R, Tenorio JM, Ferreiro M, García-Frade J, Rodríguez-Huerta AM, Cuesta J, Rodríguez-González R, García-Candel F, Dobón M, Aguilar C, Vidal F, Corrales I. Borràs N, et al. Among authors: loures e. Haematologica. 2019 Mar;104(3):587-598. doi: 10.3324/haematol.2018.203166. Epub 2018 Oct 25. Haematologica. 2019. PMID: 30361419 Free PMC article.
Inherited ADAMTS13 deficiency (Upshaw-Schulman syndrome): a short review.
Pérez-Rodríguez A, Lourés E, Rodríguez-Trillo Á, Costa-Pinto J, García-Rivero A, Batlle-López A, Batlle J, López-Fernández MF. Pérez-Rodríguez A, et al. Among authors: loures e. Thromb Res. 2014 Dec;134(6):1171-5. doi: 10.1016/j.thromres.2014.09.004. Epub 2014 Sep 10. Thromb Res. 2014. PMID: 25242241 Review.
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