Sökning: "chromosome translocation"

Visar resultat 6 - 10 av 46 avhandlingar innehållade orden chromosome translocation.

  1. 6. Cryptic chromosome abnormalities in idiopathic mental retardation

    Författare :Britt-Marie Anderlid; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Mental retardation is a common disorder, affecting 1-3% of the population. In spite of improved diagnostic tools, the etiology can still not be established in half of the cases. Several lines of evidence indicate a genetic origin in a significant number of individuals with idiopathic mental retardation. LÄS MER

  3. 7. Diamond-Blackfan anemia : Mapping and identification of the disease gene

    Författare :Peter Gustavsson; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Diamond-Blackfan anemia; erythropoiesis; positional cloning; chromosome 19q13; ribosomal protein S19 gene; Genetik; Clinical genetics; Klinisk genetik; Clinical Genetics; klinisk genetik;

    Sammanfattning : This thesis presents the positional cloning of the gene behind Diamond-Blackfan anemia. Evidence for the involvement of ribosomal protein (RP) S19 gene mutations in Diamond-Blackfan anemia is given. This is the first example of a human disease that is directly related to a ribosomal protein. LÄS MER

  4. 8. Identification and Characterization of Stem Cells in Preleukemia and Leukemia

    Författare :Lars Nilsson; Stamcellscentrum (SCC); []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Haematology; extracellulära vätskor; Hematologi; Philadelphia chromosome; acute lymphoblastic leukemia; polycytemia vera; 5q- syndrome; myelodysplastic syndromes; self-renewal; preleukemia; Hematopoietic stem cells; leukemic stem cells; extracellular fluids;

    Sammanfattning : Hematopoietic stem cells (HSCs) are responsible for the daily and life long production of large numbers of mature blood cells through highly regulated self-renewal and multilineage capabilities. Leukemias on the other hand, are characterized by a clonal, dysregulated, lineage skewed proliferation and impaired differentiation as the result of multiple accumulated genetic events. LÄS MER

  5. 9. Characterization of human chromosome 22 : cloning of breakpoints of the constitutional translocation t(11;22)(q23;q11) and detection of small constitutional delections by microarray CGH

    Författare :Isabel Tapia Paez; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :Chromosome 22; t 11; 22 q23; q 11 ; inverted repeats palindromes; DiGeorge Velo-cardio-facial syndrome; array-CGH;

    Sammanfattning : Chromosome 22 is the second smallest human chromosome, composing approximately 1.5% of the genome. The short arm of this acrocentric chromosome harbors ribosomal genes and the long arm contains the protein coding genes. LÄS MER

  7. 10. Molecular cytogenetic characterization of chromosome aberrations in soft tissue and bone tumors

    Författare :Malin A Nilsson; Avdelningen för klinisk genetik; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetik; cytogenetik; cytogenetics; Genetics; breakpoint mapping; FISH; structural rearrangements;

    Sammanfattning : Bone and soft tissue tumors (BSTT) belong to a diverse group of solid tumors of mesenchymal origin, with a large number of histological types affecting individuals of all ages. The general aim of the present thesis (Articles I-V) was to investigate in detail the genetic aberrations in selected subtypes of benign and malignant BSTT. LÄS MER