Publicacións nas que colabora con Almudena Perez Rodriguez (10)

2019

  1. Unraveling the effect of silent, intronic and missense mutations on VWF splicing: Contribution of next generation sequencing in the study of mRNA

    Haematologica, Vol. 104, Núm. 3, pp. 587-598

2018

  1. Role of multimeric analysis of von willebrand factor (VWF) in von willebrand disease (VWD) diagnosis: Lessons from the PCM-EVW-ES Spanish project

    PLoS ONE, Vol. 13, Núm. 6

2017

  1. Molecular and clinical profile of von willebrand disease in Spain (PCM-EVW-ES): Comprehensive genetic analysis by next-generation sequencing of 480 patients

    Haematologica, Vol. 102, Núm. 12, pp. 2005-2014

2016

  1. Molecular and clinical profile of von willebrand disease in spain (PCM-EVW-ES): Proposal for a new diagnostic paradigm

    Thrombosis and Haemostasis, Vol. 115, Núm. 1, pp. 40-50

2014

  1. A novel mutation in adamts13 of a child with upshaw-schulman syndrome

    Thrombosis and Haemostasis

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

    Haemophilia, Vol. 20, Núm. 4, pp. 559-567

  3. Inherited ADAMTS13 deficiency (Upshaw-Schulman syndrome): A short review

    Thrombosis Research, Vol. 134, Núm. 6, pp. 1171-1175

2011

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

    European Journal of Haematology, Vol. 87, Núm. 5, pp. 448-456

2009

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

    Haematologica, Vol. 94, Núm. 5, pp. 679-686

2005

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

    American Journal of Hematology, Vol. 80, Núm. 3, pp. 188-196