Sökning: "Clinical genetics"
Visar resultat 6 - 10 av 525 avhandlingar innehållade orden Clinical genetics.
6. DNA methylation signatures in precursor lymphoid neoplasms : with focus on clinical implications & the biology behind
Sammanfattning : Precursor lymphoid neoplasms, namely acute lymphoblastic leukemias (ALL) and lymphoblastic lymphomas (LBL), are characterized by an aggressive proliferation of malignant progenitor B- or T-cells. To improve risk classification at diagnosis, better prognostic and treatment stratifying biomarkers are needed. LÄS MER
7. The Epigenome of Multiple Myeloma : From genome-wide analysis to pharmacological manipulation
Sammanfattning : Nowadays epigenetic dysregulation is known to play a crucial role in virtually all cancers. In multiple myeloma (MM), an extensively heterogeneous malignancy, the key common feature among patients is the gene silencing imposed by the PRC2 complex through the addition of H3K27me3. LÄS MER
8. Analysis of the Gene and Protein Causing Best Macular Dystrophy
Sammanfattning : Best macular dystrophy (BMD) is an autosomal dominant inherited eye disease with a juvenile onset. Accumulation of the pigment lipofuscin in the retinal pigment epithelium can later cause macular degeneration and loss of vision. LÄS MER
9. Molecular investigations on chromosome 21 in relation to Down syndrome and familial congenital hypothyroidism
Sammanfattning : Chromosomal abnormalities as well as mutations in single genes are genetic changes that can cause syndromes or inherited diseases. Down syndrome (DS), usually a consequence of trisomy 21, is a gene dosage disorder caused by an extra copy of genes on chromosome 21, but the mechanisms whereby specific genes contribute to the clinical features of DS are not known. LÄS MER
10. Cytogenetic and molecular analysis of chromosomal rearrangements associated with neuropsychiatric disorders
Sammanfattning : Genetic factors are important in the aetiology of neuropsychiatric disorders. Analysis of chromosomal abnormalities associated with these disorders may provide locus specific information for the identification of candidate genes and, subsequently, for our understanding of brain development and functioning. LÄS MER