Publicacións nas que colabora con José Ramón González Porras (18)

2023

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

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

  3. 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. 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. 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

2020

  1. 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

  2. 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

  3. Sitosterolemia: Diagnosis, metabolic and hematological abnormalities, cardiovascular disease and management

    Current Medicinal Chemistry, Vol. 26, Núm. 37, pp. 6766-6775

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. Application of a molecular diagnostic algorithm for haemophilia A and B using next-generation sequencing of entire F8, F9 and VWF genes

    Thrombosis and Haemostasis, Vol. 117, Núm. 1, pp. 66-74

  2. Nuevos métodos diagnósticos en los trastornos plaquetarios hereditarios

    Medicina Clinica, Vol. 148, Núm. 2, pp. 71-77

  3. Two novel variants of the ABCG5 gene cause xanthelasmas and macrothrombocytopenia: a brief review of hematologic abnormalities of sitosterolemia

    Journal of Thrombosis and Haemostasis, Vol. 15, Núm. 9, pp. 1859-1866

2016

  1. Design and application of a 23-gene panel by next-generation sequencing for inherited coagulation bleeding disorders

    Haemophilia, Vol. 22, Núm. 4, pp. 590-597

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

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