Publications by the researcher in collaboration with Francisco Javier Batlle Fonrodona (54)

2022

  1. IX international curse of continuing formation in haemophilia and other congenital coagulopathies. The role of the Laboratory in coagulation disorders. Diagnosis of von Willebrand disease

    Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis, Vol. 33, pp. S12-S14

2021

  1. Type 2N VWD: Conclusions from the Spanish PCM-EVW-ES project

    Haemophilia, Vol. 27, Núm. 6, pp. 1007-1021

2020

  1. 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

    Thrombosis and Haemostasis, Vol. 120, Núm. 3, pp. 437-448

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

  2. Update on Molecular Testing in von Willebrand Disease

    Seminars in Thrombosis and Hemostasis, Vol. 45, Núm. 7, pp. 708-719

2018

  1. Enfermedad de von Willebrand

    Hemostasia y trombosis: manual práctico (Arán), pp. 67-76

  2. 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

2015

  1. Alteraciones congénitas de la coagulación

    Manual práctico de hematología clínica (Molins de Rei [Barcelona] : Antares, 2012), pp. 481-490

  2. Diátesis hemorrágica

    Manual práctico de hematología clínica (Molins de Rei [Barcelona] : Antares, 2012), pp. 439-446

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

  2. Classification of von Willebrand disease

    Von Willebrand Disease: Basic and Clinical Aspects (Wiley-Blackwell), pp. 74-85

2009

  1. Von Willebrand factor/factor VIII concentrates in the treatment of von Willebrand disease

    Blood Coagulation and Fibrinolysis, Vol. 20, Núm. 2, pp. 89-100

2008

  1. Trombocitosis

    Guías para la consulta de atención primaria: gestión de la información y el conocimiento en el punto de atención (Casitérides), pp. 585-588

  2. Type 2M von Willebrand disease: A variant of type 2A? [3]

    Journal of Thrombosis and Haemostasis

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