Publicacións en colaboración con investigadores/as de Hospital Infanta Cristina (10)

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. Identification of 58 mutations (26 Novel) in 94 of 109 symptomatic Spanish probands with protein C deficiency

    Thrombosis and Haemostasis, Vol. 119, Núm. 9, pp. 1409-1418

  2. Joint status in Spanish haemophilia B patients assessed using the Haemophilia Early Arthropathy Detection with Ultrasound (HEAD-US) score

    Haemophilia, Vol. 25, Núm. 1, pp. 144-153

  3. 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

2013

  1. Application of FISH 7q in MDS patients without monosomy 7 or 7q deletion by conventional G-banding cytogenetics: Does -7/7q- detection by FISH have prognostic value?

    Leukemia Research, Vol. 37, Núm. 4, pp. 416-421

2005

  1. Psychometric field study of the new haemophilia quality of life questionnaire for adults: The 'Hemofilia-QoL'

    Haemophilia, Vol. 11, Núm. 6, pp. 603-610

2004

  1. Development of a new disease-specific quality-of-life questionnaire to adults living with haemophilia

    Haemophilia, Vol. 10, Núm. 4, pp. 376-382