Associated Papers
Inherited platelet disorders: From new variants to new knowledge.
Pluthero FG et al.
British Journal of Haematology, 2022
Inherited platelet diseases with normal platelet count: phenotypes, genotypes and diagnostic strategy.
Nurden P et al.
Haematologica, 2021
Inherited Platelet Function Disorder From Novel Mutations in RAS Guanyl-Releasing Protein-2 Confirmed by Sanger Sequencing.
Al-Hebshi A
Cureus, 2020
RasGRP2 Structure, Function and Genetic Variants in Platelet Pathophysiology.
Canault M et al.
International Journal of Molecular Sciences, 2020
Molecular Diagnosis of Inherited Coagulation and Bleeding Disorders.
Bastida JM et al.
Seminars in Thrombosis and Hemostasis, 2019
Hereditary platelet function disorder from RASGRP2 gene mutations encoding CalDAG-GEFI identified by whole-exome sequencing in a Korean woman with severe bleeding.
Yun JW et al.
Haematologica, 2019
Identification of two novel mutations in RASGRP2 affecting platelet CalDAG-GEFI expression and function in patients with bleeding diathesis.
Sevivas T et al.
Platelets, 2018
Marked bleeding diathesis in patients with platelet dysfunction due to a novel mutation in RASGRP2, encoding CalDAG-GEFI (p.Gly305Asp).
Bermejo E et al.
Platelets, 2018
Peripartum bleeding management in a patient with CalDAG-GEFI deficiency.
Canault M et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2017
Expanded repertoire of RASGRP2 variants responsible for platelet dysfunction and severe bleeding.
Westbury SK et al.
Blood, 2017
Phenotype analysis and clinical management in a large family with a novel truncating mutation in RASGRP2, the CalDAG-GEFI encoding gene.
Desai A et al.
Research and Practice in Thrombosis and Haemostasis, 2017
Human CalDAG-GEFI deficiency increases bleeding and delays αIIbβ3 activation.
Kato H et al.
Blood, 2016
Novel mutations in RASGRP2, which encodes CalDAG-GEFI, abrogate Rap1 activation, causing platelet dysfunction.
Lozano ML et al.
Blood, 2016
Inherited disorders of platelet function: selected updates.
Nurden AT et al.
Journal of Thrombosis and Haemostasis : Jth, 2015
Expanding the Mutation Spectrum Affecting αIIbβ3 Integrin in Glanzmann Thrombasthenia: Screening of the ITGA2B and ITGB3 Genes in a Large International Cohort.
Nurden AT et al.
Human Mutation, 2015
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