Search for dissertations about: "Chromosomal abnormalities"

Showing result 1 - 5 of 44 swedish dissertations containing the words Chromosomal abnormalities.

  1. 1. Molecular Characterisation of Structural Chromosomal Abnormalities Associated with Congenital Disorders

    Author : Mahmoud R. Mansouri; Niklas Dahl; Hans Van Bokhoven; Uppsala universitet; []
    Keywords : Genetics; Chromosomal abnormalities; Mental retardation; Hypospadias and anal malformation; Premature ovarian failure; Autism; Array-CGH; ZDHHC15; Genetik;

    Abstract : Chromosomal abnormalities are defined as changes in the chromosome structure and fall in one of two categories. The first category is numerical alterations while the second category consists of structural abnormalities. Structural chromosomal abnormalities do not always interrupt genes in order to cause disease. READ MORE

  2. 2. Characterization of chromosome abnormalities

    Author : Anna Lindstrand; Karolinska Institutet; Karolinska Institutet; []
    Keywords : MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP;

    Abstract : Inborn chromosome abnormalities are a frequent cause of mental retardation and birth defects. Apart from aberrations that are visible in the microscope, a number of submicroscopic alterations have recently been discovered, and all of these chromosome changes are in fact the result of DNA alterations at the molecular level. READ MORE

  3. 3. Optimizing Chemotherapy in Childhood Acute Myeloid Leukemia

    Author : Josefine Palle; Gudmar Lönnerholm; Britt-Marie Frost; Rolf Larsson; Henrik Schröder; Uppsala universitet; []
    Keywords : MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; childhood; acute myeloid leukemia; drug resistance; pharmacokinetics; chromosomal abnormalities; Down syndrome; MLL-rearrangement; t 9; 11 ; Paediatric medicine; Pediatrisk medicin;

    Abstract : Despite major advances in our understanding of the biology of childhood acute myeloid leukemia (AML) and the development of new cytotoxic drugs, the prognosis of long-term survival is still only 60-65 %.In the present research, we studied the pharmacokinetics of drugs used in the induction therapy of childhood AML and performed in vitro drug sensitivity testing of leukemic cells from children with AML. READ MORE

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

    Author : Dmitry Tentler; Niels Tommerup; Uppsala universitet; []
    Keywords : MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; 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

  5. 5. Molecular cytogenetic investigations of chromosomal abnormalities in prostate and urinary bladder cancers

    Author : Yi Pan; Karolinska Institutet; Karolinska Institutet; []
    Keywords : MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; prostate cancer; bladder cancer; FISH; SKY;

    Abstract : Tumorigenesis is suggested to be caused by base pair mutations and chromosomal abnormalities leading to inactivation of tumor suppressor genes an activation of oncogenes. However, still it is not clear for the vast majority of these changes how they contribute to the tumorigenesis of the prostate and bladder cancers. READ MORE