José Rivera Pozo-rekin lankidetzan egindako argitalpenak (27)

2024

  1. 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

  1. 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

  2. GALE variants associated with syndromic manifestations, macrothrombocytopenia, bleeding, and platelet dysfunction

    Platelets, Vol. 34, Núm. 1

  3. Inherited Thrombocytopenia Caused by Variants in Crucial Genes for Glycosylation

    International journal of molecular sciences, Vol. 24, Núm. 6

  4. Novel variants in GALE cause syndromic macrothrombocytopenia by disrupting glycosylation and thrombopoiesis

    Blood, Vol. 141, Núm. 4, pp. 406-421

  5. Platelet transcriptome analysis in patients with germline RUNX1 mutations

    Journal of Thrombosis and Haemostasis, Vol. 21, Núm. 5, pp. 1352-1365

  6. 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

  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

  2. 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

  3. 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

  1. ABCG5 and ABCG8 gene variations associated with sitosterolemia and platelet dysfunction

    Platelets, Vol. 32, Núm. 4, pp. 573-577

  2. PTGS1 gene variations associated with bleeding and platelet dysfunction

    Platelets, Vol. 32, Núm. 5, pp. 710-716

  3. 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

  4. 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

  5. Expanding the genetic spectrum of TUBB1-related thrombocytopenia

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

  6. 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

  7. Inherited platelet disorders: An updated overview

    International Journal of Molecular Sciences, Vol. 22, Núm. 9

  8. Role of thrombopoietin receptor agonists in inherited thrombocytopenia

    International Journal of Molecular Sciences, Vol. 22, Núm. 9

2019

  1. 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

  2. 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