José Ramón
González Porras
Profesor Asociado CC. Salud
José
Rivera Pozo
Publications dans lesquelles il/elle collabore avec José Rivera Pozo (15)
2023
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Inherited Thrombocytopenia Caused by Variants in Crucial Genes for Glycosylation
International journal of molecular sciences, Vol. 24, Núm. 6
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Novel variants in GALE cause syndromic macrothrombocytopenia by disrupting glycosylation and thrombopoiesis
Blood, Vol. 141, Núm. 4, pp. 406-421
2022
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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
2021
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ABCG5 and ABCG8 gene variations associated with sitosterolemia and platelet dysfunction
Platelets, Vol. 32, Núm. 4, pp. 573-577
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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
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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
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Inherited platelet disorders: An updated overview
International Journal of Molecular Sciences, Vol. 22, Núm. 9
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Role of thrombopoietin receptor agonists in inherited thrombocytopenia
International Journal of Molecular Sciences, Vol. 22, Núm. 9
2019
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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
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Molecular Diagnosis of Inherited Coagulation and Bleeding Disorders
Seminars in Thrombosis and Hemostasis, Vol. 45, Núm. 7, pp. 695-707
2018
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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
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Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders
Haematologica, Vol. 103, Núm. 1, pp. 148-162
2017
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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
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Hsp70 protects from stroke in atrial fibrillation patients by preventing thrombosis without increased bleeding risk
Cardiovascular Research, Vol. 110, Núm. 3, pp. 309-318
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Novel mutations in RASGRP2, which encodes CalDAG-GEFI, abrogate Rap1 activation, causing platelet dysfunction
Blood, Vol. 128, Núm. 9, pp. 1282-1289