Publicaciones en las que colabora con J. R. González Porras (14)

2021

  1. 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

  2. Author Correction: Deciphering predictive factors for choice of thrombopoietin receptor agonist, treatment free responses, and thrombotic events in immune thrombocytopenia (Scientific Reports, (2019), 9, 1, (16680), 10.1038/s41598-019-53209-y)

    Scientific Reports

  3. 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

  2. Multirefractory primary immune thrombocytopenia; targeting the decreased sialic acid content

    Platelets, Vol. 30, Núm. 6, pp. 743-751

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. Clinical perspectives on the management of bleeding in patients on oral anticoagulants: The DECOVER Study (DElphi Consensus on oral COagulation and therapy action reVERsa

    Emergencias, Vol. 29, Núm. 1, pp. 18-26

2016

  1. Identification of a new potential mechanism responsible for severe bleeding in myeloma: Immunoglobulins bind the heparin binding domain of antithrombin activating this endogenous anticoagulant

    Haematologica

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

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

  3. Real-life management of primary immune thrombocytopenia (ITP) in adult patients and adherence to practice guidelines

    Annals of Hematology, Vol. 95, Núm. 7, pp. 1089-1098

2008

  1. AB0 blood group and risk of venous or arterial thrombosis in carriers of factor V Leiden or prothrombin G20210A polymorphisms

    Haematologica, Vol. 93, Núm. 5, pp. 729-734

2007

  1. Antithrombin Cambridge II (A384S): An underestimated genetic risk factor for venous thrombosis

    Blood, Vol. 109, Núm. 10, pp. 4258-4263

2006

  1. A nonsense polymorphism in the protein Z-dependent protease inhibitor increases the risk for venous thrombosis

    Blood, Vol. 108, Núm. 1, pp. 177-183