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101 SF3B1 Mutation and Overlapping Features of MDS/MPN-SF3B1-T and CLL: A Diagnostic Challenge
American Journal of Clinical PathologyAbstract Introduction/Objective SF3B1 mutations are associated with several hematologic malignancies, including chronic lymphocytic leukemia (CLL) and myelodysplastic/myeloproliferative neoplasms with SF3B1 mutation and thrombocytosis (MDS/MPN-SF3B1-T). CLL cases with SF3B1 mutations often show
Zehra Kocas, Ali Tug, Jonathan Freeman
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Clinicopathological and molecular features of SF3B1-mutated myeloproliferative neoplasms
Human Pathology, 2019The introduction of next-generation sequencing has broadened the genetic landscape of myeloproliferative neoplasms (MPNs) beyond JAK2, MPL, and CALR. However, the biological role and clinical impact of most other mutations are not well defined. We interrogated 101 genes in 143 BCR-ABL1-negative MPNs in chronic phase from 2 large institutions.
Leonardo, Boiocchi +9 more
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Pediatric Myelodysplastic Syndrome with SF3B1 Mutation.
Journal of the Association of Genetic TechnologistsPatients with Fanconi Anemia (FA) have an increased risk of developing myeloid malignancies, which often precede the diagnosis of FA. We describe a patient with non-specific clinical findings diagnosed with myelodysplastic syndrome (MDS) at 17 years of age.
Britt, Boles +3 more
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Uveal Melanomas with SF3B1 Mutations
Ophthalmology, 2016Serdar Yavuzyigitoglu +8 more
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