Search for dissertations about: "trisomy"
Showing result 11 - 15 of 25 swedish dissertations containing the word trisomy.
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11. Reappraising prognosis in chronic lymphocytic leukemia
Abstract : Chronic lymphocytic leukemia (CLL) exhibits remarkable clinical heterogeneity likely reflecting the underlying biological heterogeneity. The genetic landscape of CLL has been recently enriched with mutations within a number of genes proposed as novel prognostic markers. READ MORE
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12. Case-control studies on risk factors for myeloid leukemias and myelodysplastic syndromes
Abstract : Case-control studies comprising telephone interviews for 333 cases of acute myeloid leukemia (AML), 226 cases of Philadelphia chromosome-positive chronic myeloid leukemia (Ph+ CML), 330 cases of myelodysplastic syndromes (MDS), and matched controls were conducted. Information had to be obtained from next-of-kin much more often for cases (85%) than for controls (18%). READ MORE
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13. Array based genetic profiling of chronic lymphocytic leukemia
Abstract : Although no common genetic defect has been described in chronic lymphocytic leukemia (CLL), recurrent genomic aberrations (i.e. deletions of chromosome 11q, 13q, 17p and trisomy 12) are important for prognostication. Deletion of 13q as single aberration is associated with the best prognosis, whereas del(11q) and del(17p) predict a poor outcome. READ MORE
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14. Induced pluripotent stem cell (iPSC) modelling for the identification of mechanisms behind neurodevelopmental disorders
Abstract : Human induced pluripotent stem cells (iPSCs) have opened new possibilities to recapitulate disease mechanisms and to model disorders in vitro. In the studies presented here, iPSCs were established to model neural differentiation in Down syndrome (DS), caused by trisomy for chromosome 21 (T21); Dravet syndrome (DRS), caused by variants in the SCN1A gene; and an ataxia syndrome, caused by a variant in the NFASC gene. READ MORE
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15. Molecular and functional studies of ABL1 and FGFR1 fusion oncogenes in myeloproliferative neoplasms
Abstract : The tyrosine kinase encoding genes ABL1 and FGFR1 are involved in fusion genes underlying the myeloproliferative neoplasms chronic myeloid leukemia (CML) and the 8p11-myeloproliferative syndrome (EMS). CML and EMS are both myeloproliferative disorders with an initiating, relatively indolent, chronic phase that after some time progresses into acute myeloid or lymphoid leukemia. READ MORE