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Article
Open AccessThe genomic analysis brings a new piece to the molecular jigsaw of idiopathic erythrocytosis
Erythrocytosis is a clinical condition characterized by increased red cell mass, hemoglobin, and hematocrit values. A significant fraction of patients is described as having idiopathic erythrocytosis. We have ...
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Article
Open AccessIRF4 expression is low in Philadelphia negative myeloproliferative neoplasms and is associated with a worse prognosis
Interferon regulatory factor 4 (IRF4) is involved in the pathogenesis of various hematologic malignancies. Its expression has been related to the negative regulation of myeloid-derived suppressor cells (MDSCs) an...
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Article
Open AccessNanopore sequencing approach for immunoglobulin gene analysis in chronic lymphocytic leukemia
The evaluation of the somatic hypermutation of the clonotypic immunoglobulin heavy variable gene has become essential in the therapeutic management in chronic lymphocytic leukemia patients. European Research I...
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Article
Erythrocytosis with JAK2 GGCC_46/1 haplotype and without JAK2 V617F mutation is associated with CALR rs1049481_G allele
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Article
Open AccessDroplet digital PCR for the quantification of Alu methylation status in hematological malignancies
Alu repeats, belonging to the Short Interspersed Repetitive Elements (SINEs) class, contain about 25% of CpG sites in the human genome. Alu sequences lie in gene-rich regions, so their methylation is an import...
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Article
Open AccessDesign and MinION testing of a nanopore targeted gene sequencing panel for chronic lymphocytic leukemia
We report a customized gene panel assay based on multiplex long-PCR followed by third generation sequencing on nanopore technology (MinION), designed to analyze five frequently mutated genes in chronic lymphoc...
