Search for dissertations about: "Abnormalities"

Showing result 1 - 5 of 538 swedish dissertations containing the word Abnormalities.

  2. 1. Characterization of chromosome abnormalities

    Author : Anna Lindstrand; Karolinska Institutet; Karolinska Institutet; []
    Keywords : ;

    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

  4. 2. 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

  5. 3. Cardiac abnormalities in chronic kidney disease

    Author : Pavlos Kashioulis; Göteborgs universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; cardiovascular; chronic kidney disease; diastolic dysfunction;

    Abstract : Chronic kidney disease (CKD) is a global health problem associated with increased risk of mortality and development of end-stage renal disease (ESRD). Cardiovascular diseases are the leading cause of morbidity and mortality even before the development of ESRD. READ MORE

  6. 4. Central pain in multiple sclerosis : clinical characteristics, sensory abnormalities and treatment

    Author : Anders Österberg; Per Hansson; Linköpings universitet; []
    Keywords : MEDICINE; MEDICIN;

    Abstract : In the present research programme the occurrence of pain in MS was investigated, with special emphasis on central pain (CP). Questionnaires were sent to all 429 patients with definite MS in the patient register at our neurology department. READ MORE

  7. 5. On the etiology of Bell's palsy : immunological and magnetic resonance imaging abnormalities

    Author : Lars Jonsson; Uppsala universitet; []
    Keywords : MEDICINE; MEDICIN;

    Abstract : .... READ MORE