Search for dissertations about: "clinical genetics"

Showing result 6 - 10 of 524 swedish dissertations containing the words clinical genetics.

  2. 6. DNA methylation signatures in precursor lymphoid neoplasms : with focus on clinical implications & the biology behind

    Author : Zahra Haider; Sofie Degerman; Magnus Hultdin; Göran Roos; Pieter van Vlierberghe; Umeå universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; Acute Lymphoblastic Leukemia; Lymphoma; T-ALL; BCP-ALL; T-LBL; DNA methylation; CIMP; Prognosis; TAL1; HOX.;

    Abstract : 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. READ MORE

  4. 7. The Epigenome of Multiple Myeloma : From genome-wide analysis to pharmacological manipulation

    Author : Alba Atienza Párraga; Helena Jernberg-Wiklund; Fredrik Öberg; Antonia Kalushkova; Miguel Angel Peinado; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; Multiple myeloma; epigenetics; Polycomb; EZH2; miRNA; DNA methylation; inhibitor.; Experimentell patologi; Experimental Pathology;

    Abstract : 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. READ MORE

  5. 8. Analysis of the Gene and Protein Causing Best Macular Dystrophy

    Author : Benjamin Bakall; Catharina Larsson; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; VMD2; bestrophin; macular degenration; mutation analysis; Genetik; Clinical genetics; Klinisk genetik; Clinical Genetics; klinisk genetik;

    Abstract : 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. READ MORE

  6. 9. Molecular investigations on chromosome 21 in relation to Down syndrome and familial congenital hypothyroidism

    Author : Bodil Edman Ahlbom; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Genetik; Clinical genetics; Klinisk genetik; Clinical Genetics; klinisk genetik;

    Abstract : 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. READ MORE

  7. 10. Cytogenetic and molecular analysis of chromosomal rearrangements associated with neuropsychiatric disorders

    Author : Dmitry Tentler; Niels Tommerup; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Mental retardation; autism; Asperger syndrome; chromosomal rearrangement; Genetik; Clinical genetics; Klinisk genetik; Clinical Genetics; klinisk genetik;

    Abstract : 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. READ MORE