José María
Bastida Bermejo
Profesor Asociado CC. Salud
José
Rivera Pozo
Publicaciones en las que colabora con José Rivera Pozo (27)
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
2023
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Corrigendum to GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis [J Thromb Haemost. 2021 Oct;19(10):2612-2617] (Journal of Thrombosis and Haemostasis (2021) 19(10) (2612–2617), (S1538783622021559), (10.1111/jth.15459))
Journal of Thrombosis and Haemostasis
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GALE variants associated with syndromic manifestations, macrothrombocytopenia, bleeding, and platelet dysfunction
Platelets, Vol. 34, Núm. 1
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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
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Platelet transcriptome analysis in patients with germline RUNX1 mutations
Journal of Thrombosis and Haemostasis, Vol. 21, Núm. 5, pp. 1352-1365
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Validation of immunofluorescence analysis of blood smears in patients with inherited platelet disorders
Journal of Thrombosis and Haemostasis, Vol. 21, Núm. 4, pp. 1010-1019
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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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
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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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ABCG5 and ABCG8 gene variations associated with sitosterolemia and platelet dysfunction
Platelets, Vol. 32, Núm. 4, pp. 573-577
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PTGS1 gene variations associated with bleeding and platelet dysfunction
Platelets, Vol. 32, Núm. 5, pp. 710-716
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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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Expanding the genetic spectrum of TUBB1-related thrombocytopenia
Blood Advances, Vol. 5, Núm. 24, pp. 5453-5467
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GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis
Journal of Thrombosis and Haemostasis, Vol. 19, Núm. 10, pp. 2612-2617
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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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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