José María
Bastida Bermejo
Profesor Asociado CC. Salud
María Luisa
Lozano Almela
Publicaciones en las que colabora con María Luisa Lozano Almela (16)
2024
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Targeted long-read sequencing identifies and characterizes structural variants in cases of inherited platelet disorders
Journal of Thrombosis and Haemostasis, Vol. 22, Núm. 3, pp. 851-859
2022
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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
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Src-related thrombocytopenia: a fine line between a megakaryocyte dysfunction and an immune-mediated disease
Blood Advances, Vol. 6, Núm. 17, pp. 5244-5255
2021
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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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Expanding the genetic spectrum of TUBB1-related thrombocytopenia
Blood Advances, Vol. 5, Núm. 24, pp. 5453-5467
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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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GENYOi005-A: An induced pluripotent stem cells (iPSCs) line generated from a patient with Familial Platelet Disorder with associated Myeloid Malignancy (FPDMM) carrying a p.Thr196Ala variant
Stem Cell Research, Vol. 41
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Molecular Diagnosis of Inherited Coagulation and Bleeding Disorders
Seminars in Thrombosis and Hemostasis, Vol. 45, Núm. 7, pp. 695-707
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RASGRP2 gene variations associated with platelet dysfunction and bleeding
Platelets, Vol. 30, Núm. 4, pp. 535-539
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
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Wiskott–Aldrich syndrome in a child presenting with macrothrombocytopenia
Platelets, Vol. 28, Núm. 4, pp. 417-420
2016
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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
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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