Publicacións (110) Publicacións de Francisco Javier Batlle Fonrodona

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 Ediciones), 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

  3. Identification and characterization of novel variations in platelet G-protein coupled receptor (GPCR) genes in patients historically diagnosed with type 1 von Willebrand disease

    PLoS ONE, Vol. 10, Núm. 12

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

2013

  1. VWF propeptide and ratios between VWF, VWF propeptide, and FVIII in the characterization of type 1 von Willebrand disease

    Blood, Vol. 121, Núm. 12, pp. 2336-2339

2012

  1. Emerging viral infections - A potential threat for blood supply in the 21st century

    AIDS Reviews, Vol. 14, Núm. 4, pp. 279-289

2011

  1. A comparison between two semi-quantitative bleeding scales for the diagnosis and assessment of bleeding severity in type 1 von Willebrand disease

    Haemophilia

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

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

  3. Classification of von Willebrand disease

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