Publicaciones en las que colabora con María Luisa Lozano Almela (11)

2023

  1. NLRP3 inflammasome activation and symptom burden in KRAS-mutated CMML patients is reverted by IL-1 blocking therapy

    Cell Reports Medicine, Vol. 4, Núm. 12

2022

  1. A Novel GATA1 Variant in the C-Terminal Zinc Finger Compared with the Platelet Phenotype of Patients with A Likely Pathogenic Variant in the N-Terminal Zinc Finger

    Cells, Vol. 11, Núm. 20

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. Expanding the genetic spectrum of TUBB1-related thrombocytopenia

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

2019

  1. Molecular Diagnosis of Inherited Coagulation and Bleeding Disorders

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

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. 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

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

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

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