Leveraging paired germline and somatic analysis to improve the classification of DDX41 variants
Summary Constitutional pathogenic variants in DDX41 predispose to myelodysplasia and acute myeloid leukaemia. Acquisition of subsequent somatic hits in the second allele is frequent, with notable recurrent variants at key hotspots. Sequencing of Deoxyribonucleic acid from blood/marrow of 239 patients with suspected/confirmed haematological malignancies
Andrew George +13 more
wiley +1 more source
ABSTRACT Background Polycythemia vera (PV) and essential thrombocythemia (ET) are associated with a well‐recognized increased risk of thrombotic events, bleeding, and all‐cause mortality, but the frequency of these outcomes during treatment has rarely been assessed in large cohorts.
Anneli Enblom Larsson +5 more
wiley +1 more source
Myeloproliferative disorders and their effects on bone homeostasis: the role of megakaryocytes.
Karagianni A, Ravid K.
europepmc +1 more source
Generalized Chorea and JAK2V617F Mutation-Positive Myeloproliferative Disorders. [PDF]
Betté S, Moore H.
europepmc +1 more source
COVID-19 in Philadelphia-negative myeloproliferative disorders: a GIMEMA survey. [PDF]
Breccia M +13 more
europepmc +1 more source
Screening for precapillary pulmonary hypertension in chronic myeloproliferative disorders: the role of N-terminal pro-B-type natriuretic peptide and vascular endothelial growth factor - a pilot study. [PDF]
Költő G +6 more
europepmc +1 more source
Analytical cohort study on splenomegaly and cytopenias in myeloproliferative disorders. [PDF]
Sinha S +4 more
europepmc +1 more source
Clinical course and short-term outcome of postsplenectomy reactive thrombocytosis in children without myeloproliferative disorders: A single institutional experience from a developing country. [PDF]
Zvizdic Z +4 more
europepmc +1 more source
Pediatric Pulmonary Hypertension Associated With Treatment of Myeloproliferative Disorders and Malignant Tumors. [PDF]
Chida-Nagai A +5 more
europepmc +1 more source
SFX-01 is therapeutic against myeloproliferative disorders caused by activating mutations in Shp2. [PDF]
Cho HJ +19 more
europepmc +1 more source

