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Items: 4

1.

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.

Haematologica. 2019 Mar;104(3):587-598. doi: 10.3324/haematol.2018.203166. Epub 2018 Oct 25.

2.

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.

PLoS One. 2018 Jun 20;13(6):e0197876. doi: 10.1371/journal.pone.0197876. eCollection 2018.

3.

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.

Hemoglobin. 2013;37(1):48-55. doi: 10.3109/03630269.2012.746943. Epub 2012 Dec 10.

PMID:
23215953
4.

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.

Ann Hematol. 2012 Sep;91(9):1495-6. doi: 10.1007/s00277-012-1433-2. Epub 2012 Mar 14. No abstract available.

PMID:
22415067

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