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Page 1
Type 2N VWD: Conclusions from the Spanish PCM-EVW-ES project.
Pérez-Rodríguez A, Batlle J, Pinto JC, Corrales I, Borràs N, Garcia-Martínez I, Cid AR, Bonanad S, Parra R, Mingot-Castellano ME, Navarro N, Altisent C, Pérez-Montes R, Moretó A, Herrero S, Soto I, Mosteirín NF, Jiménez-Yuste V, Jacob AA, Fontanes E, Mateo J, Quismondo NC, Batlle F, Vidal F, López-Fernández MF; investigators and centers involved in the PCM-EVW-ES project. Pérez-Rodríguez A, et al. Among authors: borras n. Haemophilia. 2021 Nov;27(6):1007-1021. doi: 10.1111/hae.14405. Epub 2021 Sep 7. Haemophilia. 2021. PMID: 34494337
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: borras n. Thromb Haemost. 2016 Jan;115(1):40-50. doi: 10.1160/TH15-04-0282. Epub 2015 Aug 6. Thromb Haemost. 2016. PMID: 26245874
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: borras n. 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: borras n. 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. Haematologica. 2017 Dec;102(12):2005-2014. doi: 10.3324/haematol.2017.168765. Epub 2017 Sep 29. Haematologica. 2017. PMID: 28971901 Free PMC article.
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: borras n. PLoS One. 2018 Jun 20;13(6):e0197876. doi: 10.1371/journal.pone.0197876. eCollection 2018. PLoS One. 2018. PMID: 29924855 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: borras n. 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.
Novel Double Factor PGT strategy analyzing blastocyst stage embryos in a single NGS procedure.
Del Rey J, Vidal F, Ramírez L, Borràs N, Corrales I, Garcia I, Martinez-Pasarell O, Fernandez SF, Garcia-Cruz R, Pujol A, Plaja A, Salaverria I, Oliver-Bonet M, Benet J, Navarro J. Del Rey J, et al. Among authors: borras n. PLoS One. 2018 Oct 17;13(10):e0205692. doi: 10.1371/journal.pone.0205692. eCollection 2018. PLoS One. 2018. PMID: 30332465 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. Haematologica. 2019 Mar;104(3):587-598. doi: 10.3324/haematol.2018.203166. Epub 2018 Oct 25. Haematologica. 2019. PMID: 30361419 Free PMC article.
Update on Molecular Testing in von Willebrand Disease.
Batlle J, Pérez-Rodríguez A, Corrales I, Borràs N, Costa Pinto J, López-Fernández MF, Vidal F; PCM-EVW-ES Investigators Team. Batlle J, et al. Among authors: borras n. Semin Thromb Hemost. 2019 Oct;45(7):708-719. doi: 10.1055/s-0039-1679922. Epub 2019 Apr 30. Semin Thromb Hemost. 2019. PMID: 31041796 Review.
30 results