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List of works by Jose Maria Bastida

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

scientific article published in 2022

ABCG5 and ABCG8 gene variations associated with sitosterolemia and platelet dysfunction

scientific article published on 16 June 2020

Application of a molecular diagnostic algorithm for haemophilia A and B using next-generation sequencing of entire F8, F9 and VWF genes.

scientific article published on 13 October 2016

C-Reactive protein and SOFA score as early predictors of critical care requirement in patients with COVID-19 pneumonia in Spain.

scientific article published on 25 May 2020

CRISPR/Cas9-generated models uncover therapeutic vulnerabilities of del(11q) CLL cells to dual BCR and PARP inhibition

scientific article published on 23 January 2020

Defects in memory B-cell and plasma cell subsets expressing different immunoglobulin-subclasses in patients with CVID and immunoglobulin subclass deficiencies

scientific article published on 28 February 2019

Design and application of a 23-gene panel by next-generation sequencing for inherited coagulation bleeding disorders.

scientific article published on 15 February 2016

Drug-induced Thrombotic Microangiopathy During Maintenance Treatment in a Patient With Multiple Myeloma

scientific article published on 04 June 2019

Eltrombopag in immune thrombocytopenia: efficacy review and update on drug safety.

scientific article published on 19 April 2018

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

scientific article published on 15 October 2019

HLA specificities are associated with prognosis in IGHV-mutated CLL-like high-count monoclonal B cell lymphocytosis

scientific article

Hemorrhagic pericardial effusion as the debut of acquired hemophilia in a chronic lymphocytic leukemia patient: A case report, and a review of acquired hemophilia A-related hematological malignancies.

scientific article published on 27 November 2017

Hidden myelodysplastic syndrome (MDS): A prospective study to confirm or exclude MDS in patients with anemia of uncertain etiology

scientific article published on 05 October 2018

Identification of novel variants in ten patients with Hermansky-Pudlak syndrome by high-throughput sequencing

scientific article published on 01 March 2019

Identification of two novel mutations in RASGRP2 affecting platelet CalDAG-GEFI expression and function in patients with bleeding diathesis.

scientific article published in August 2017

Influence of donor age in allogeneic stem cell transplant outcome in acute myeloid leukemia and myelodisplastic syndrome.

scientific article

Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders.

scientific article published on 5 October 2017

Management patterns and outcomes in symptomatic venous thromboembolism following allogeneic hematopoietic stem cell transplantation. A 15-years experience at a single center

scientific article

Molecular Diagnosis of Inherited Coagulation and Bleeding Disorders

scientific article published on 30 April 2019

Novel approaches for diagnosing inherited platelet disorders

scientific article published on 27 October 2016

Novel mutations in RASGRP2, which encodes CalDAG-GEFI, abrogate Rap1 activation, causing platelet dysfunction

scientific article published on 27 May 2016

PTGS1 gene variations associated with bleeding and platelet dysfunction

scientific article published on 25 June 2020

RASGRP2 gene variations associated with platelet dysfunction and bleeding

scientific article published on 08 March 2019

Sitosterolemia: Diagnosis, Metabolic and Hematological Abnormalities, Cardiovascular Disease and Management

scientific article published on 01 January 2019

Thrombopoietin Receptor Agonists for Severe Thrombocytopenia after Allogeneic Stem Cell Transplantation: Experience of the Spanish Group of Hematopoietic Stem Cell Transplant

scientific article published on 29 May 2019

Top-level sport in athletes with severe haemophilia A.

scientific article published on 2 June 2017

Transcriptomic analysis of patients with immune thrombocytopenia treated with eltrombopag

scientific article published on 14 December 2019

Two novel variants of the ABCG5 gene cause xanthelasmas and macrothrombocytopenia: a brief review of hematological abnormalities of sitosterolemia

scientific article

Use of eltrombopag for secondary immune thrombocytopenia in clinical practice

scientific article

Usefulness of eltrombopag for treating thrombocytopenia after allogeneic stem cell transplantation

scientific article published on 24 October 2018

Wiskott-Aldrich syndrome in a child presenting with macrothrombocytopenia.

scientific article

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