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Items: 12

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.

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.

Haematologica. 2017 Dec;102(12):2005-2014. doi: 10.3324/haematol.2017.168765. Epub 2017 Sep 29.

4.

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.

Thromb Haemost. 2016 Jan;115(1):40-50. doi: 10.1160/TH15-04-0282. Epub 2015 Aug 6.

PMID:
26245874
5.

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.

Thromb Res. 2014 Dec;134(6):1171-5. doi: 10.1016/j.thromres.2014.09.004. Epub 2014 Sep 10. Review.

PMID:
25242241
6.

Diagnosis of inherited von Willebrand disease: comparison of two methodologies and analysis of the discrepancies.

Costa-Pinto J, Pérez-Rodríguez A, del C Goméz-del-Castillo M, Lourés E, Rodríguez-Trillo A, Batlle J, López-Fernández MF.

Haemophilia. 2014 Jul;20(4):559-67.

PMID:
25077350
7.

A novel mutation in ADAMTS13 of a child with Upshaw-Schulman Syndrome.

Pérez-Rodríguez A, Batlle-López A, Blanco R, Varela I, León J, Delgado MD, Lourés E, Rodríguez-Trillo A, García-Rivero A, Costa-Pinto J, Batlle J, López-Fernández MF.

Thromb Haemost. 2014 Nov;112(5):1065-8. doi: 10.1160/TH14-02-0116. Epub 2014 Jul 24. No abstract available.

PMID:
25057114
8.

Acquired von Willebrand syndrome and mitral valve prosthesis leakage. A pilot study.

Pérez-Rodríguez A, Pinto JC, Lourés E, Rodríguez-Trillo A, Cuenca JJ, Batlle J, López-Fernández MF.

Eur J Haematol. 2011 Nov;87(5):448-56. doi: 10.1111/j.1600-0609.2011.01664.x. Epub 2011 Jul 26.

PMID:
21668503
9.

Autosomal dominant C1149R von Willebrand disease: phenotypic findings and their implications.

Pérez-Rodríguez A, García-Rivero A, Lourés E, López-Fernández MF, Rodríguez-Trillo A, Batlle J.

Haematologica. 2009 May;94(5):679-86. doi: 10.3324/haematol.2008.003301. Epub 2009 Mar 13.

10.

von Willebrand disease R1374C: type 2A or 2M? A challenge to the revised classification. High frequency in the northwest of Spain (Galicia).

Penas N, Pérez-Rodríguez A, Torea JH, Lourés E, Noya MS, López-Fernández MF, Batlle J.

Am J Hematol. 2005 Nov;80(3):188-96.

11.

Alloantibody from a patient with severe von Willebrand disease inhibits von Willebrand factor-FVIII interaction.

Batlle J, Lourés E, Vila P, Hernández MC, Méndez JA, Torea J, Rendal E, Couselo MJ, Filgueira A, López Fernández MF.

Ann Hematol. 1997 Sep;75(3):111-5.

PMID:
9368480
12.

Antibodies to factor VIII in plasma of patients with hemophilia A and normal subjects.

Batlle J, Gómez E, Rendal E, Torea J, Lourés E, Couselo M, Vila P, Sedano C, Tusell X, Magallón M, Quintana M, González-Boullosa R, López-Fernández MF.

Ann Hematol. 1996 May;72(5):321-6.

PMID:
8645745

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