Publicaciones en las que colabora con José Ramón González Porras (37)

2024

  1. Platelet C3G: a key player in vesicle exocytosis, spreading and clot retraction

    Cellular and Molecular Life Sciences, Vol. 81, Núm. 1

2023

  1. Inherited Thrombocytopenia Caused by Variants in Crucial Genes for Glycosylation

    International journal of molecular sciences, Vol. 24, Núm. 6

  2. Key Genes of the Immune System and Predisposition to Acquired Hemophilia A: Evidence from a Spanish Cohort of 49 Patients Using Next-Generation Sequencing

    International Journal of Molecular Sciences, Vol. 24, Núm. 22

  3. Novel variants in GALE cause syndromic macrothrombocytopenia by disrupting glycosylation and thrombopoiesis

    Blood, Vol. 141, Núm. 4, pp. 406-421

2022

  1. A novel nonsense variant in TPM4 caused dominant macrothrombocytopenia, mild bleeding tendency and disrupted cytoskeleton remodeling

    Journal of Thrombosis and Haemostasis, Vol. 20, Núm. 5, pp. 1248-1255

  2. Functional Alterations Involved in Increased Bleeding in Hereditary Hemorrhagic Telangiectasia Mouse Models

    Frontiers in Medicine, Vol. 9

  3. Low molecular weight heparin is useful in adult COVID-19 inpatients. Experience during the first Spanish wave: observational study

    Sao Paulo medical journal = Revista paulista de medicina, Vol. 140, Núm. 1, pp. 123-133

  4. Novel Therapies to Address Unmet Needs in ITP

    Pharmaceuticals, Vol. 15, Núm. 7

  5. Retinal blood vessel calibre and vascular ageing in a general Spanish population: A EVA study

    European Journal of Clinical Investigation, Vol. 52, Núm. 2

  6. Vascular target organ damage in patients with Philadelphia negative myeloproliferative syndrome: A propensity score analysis

    Medicina Clinica, Vol. 158, Núm. 11, pp. 503-508

2021

  1. ABCG5 and ABCG8 gene variations associated with sitosterolemia and platelet dysfunction

    Platelets, Vol. 32, Núm. 4, pp. 573-577

  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. Characterization of the platelet phenotype caused by a germline RUNX1 Variant in a CRISPR/Cas9-generated murine model

    Thrombosis and Haemostasis, Vol. 121, Núm. 9, pp. 1193-1205

  4. Inherited platelet disorders: An updated overview

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

  5. Role of thrombopoietin receptor agonists in inherited thrombocytopenia

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

2020

  1. Acquired haemophilia a in association with influenza a and urinary tract infection

    European Journal of Case Reports in Internal Medicine, Vol. 7, Núm. 9

  2. Reference values of arterial stiffness parameters and their association with cardiovascular risk factors in the Spanish population. The EVA Study

    Revista Espanola de Cardiologia, Vol. 73, Núm. 1, pp. 43-52

  3. Transcriptomic analysis of patients with immune thrombocytopenia treated with eltrombopag

    Platelets, Vol. 31, Núm. 8, pp. 993-1000

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. Molecular Diagnosis of Inherited Coagulation and Bleeding Disorders

    Seminars in Thrombosis and Hemostasis, Vol. 45, Núm. 7, pp. 695-707