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Type 2N VWD: Conclusions from the Spanish PCM-EVW-ES project.
Haemophilia. 2021 Nov;27(6):1007-1021. doi: 10.1111/hae.14405. Epub 2021 Sep 7.
Haemophilia. 2021.
PMID: 34494337
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: fontanes 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.
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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: fontanes 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.
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Unraveling the Influence of Common von Willebrand factor variants on von Willebrand Disease Phenotype: An Exploratory Study on the Molecular and Clinical Profile of von Willebrand Disease in Spain Cohort.
Borràs N, Garcia-Martínez I, Batlle J, Pérez-Rodríguez A, Parra R, Altisent C, López-Fernández MF, Costa Pinto J, Batlle-López F, Cid AR, Bonanad S, Cabrera N, Moret A, Mingot-Castellano ME, Navarro N, 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, Del Mar Nieto M, 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, Corrales I, Vidal F.
Borràs N, et al. Among authors: fontanes e.
Thromb Haemost. 2020 Mar;120(3):437-448. doi: 10.1055/s-0040-1702227. Epub 2020 Mar 5.
Thromb Haemost. 2020.
PMID: 32135566
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Erythrocytosis in a child due to Hb Andrew-Minneapolis [β144(HC1)Lys→Asn (AAG>AAT or AAC)] associated with a Spanish (δβ)(0)-thalassemia.
Ropero P, González FA, Cela E, Beléndez C, Pérez B, Seri C, Fontanes E, Villegas A, Díaz-Mediavilla J.
Ropero P, et al. Among authors: fontanes e.
Hemoglobin. 2013;37(1):48-55. doi: 10.3109/03630269.2012.746943. Epub 2012 Dec 10.
Hemoglobin. 2013.
PMID: 23215953
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Thrombosis and severe asthenia as priority manifestations in paroxysmal nocturnal haemoglobinuria.
González FA, Villegas A, Osorio S, Seri C, Fontanes E, Pérez B, Díaz Mediavilla J.
González FA, et al. Among authors: fontanes e.
Ann Hematol. 2012 Sep;91(9):1495-6. doi: 10.1007/s00277-012-1433-2. Epub 2012 Mar 14.
Ann Hematol. 2012.
PMID: 22415067
No abstract available.
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