Publicaciones en las que colabora con José María Bastida Bermejo (12)

2024

  1. Thrombotic risk and features of patients with inferior vena cava agenesis: a multicentre, retrospective, observational study

    The Lancet Haematology, Vol. 11, Núm. 8, pp. e606-e616

2023

  1. Platelet transcriptome analysis in patients with germline RUNX1 mutations

    Journal of Thrombosis and Haemostasis, Vol. 21, Núm. 5, pp. 1352-1365

2022

  1. Src-related thrombocytopenia: a fine line between a megakaryocyte dysfunction and an immune-mediated disease

    Blood Advances, Vol. 6, Núm. 17, pp. 5244-5255

2021

  1. PTGS1 gene variations associated with bleeding and platelet dysfunction

    Platelets, Vol. 32, Núm. 5, pp. 710-716

  2. A novel genetic variant in PTGS1 affects N-glycosylation of cyclooxygenase-1 causing a dominant-negative effect on platelet function and bleeding diathesis

    American Journal of Hematology

  3. Expanding the genetic spectrum of TUBB1-related thrombocytopenia

    Blood Advances, Vol. 5, Núm. 24, pp. 5453-5467

  4. Inherited platelet disorders: An updated overview

    International Journal of Molecular Sciences, Vol. 22, Núm. 9

2019

  1. Identification of novel variants in ten patients with Hermansky-Pudlak syndrome by high-throughput sequencing

    Annals of Medicine, Vol. 51, Núm. 2, pp. 141-148

2018

  1. Identification of two novel mutations in RASGRP2 affecting platelet CalDAG-GEFI expression and function in patients with bleeding diathesis

    Platelets, Vol. 29, Núm. 2, pp. 192-195

  2. Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders

    Haematologica, Vol. 103, Núm. 1, pp. 148-162

2017

  1. Wiskott–Aldrich syndrome in a child presenting with macrothrombocytopenia

    Platelets, Vol. 28, Núm. 4, pp. 417-420

2016

  1. Novel mutations in RASGRP2, which encodes CalDAG-GEFI, abrogate Rap1 activation, causing platelet dysfunction

    Blood, Vol. 128, Núm. 9, pp. 1282-1289