Sökning: "Syndrome X"

Visar resultat 1 - 5 av 193 avhandlingar innehållade orden Syndrome X.

  1. 1. Microarray-Based Comparative Genomic Hybridization in Neurofibromatoses and DiGeorge Syndrome

    Detta är en avhandling från Uppsala : Acta Universitatis Upsaliensis

    Författare :Kiran K. Mantripragada; Uppsala universitet.; [2005]
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; array-CGH; neurofibromatoses; neurofibromatosis type 1; neurofibromatosis type 2; schwannomatosis; DiGeorge syndrome; 22q11 syndrome; chromosome 22; genomic microarrays; DNA copy number; Genetik; MEDICINE Dermatology and venerology; clinical genetics; internal medicine Clinical genetics; MEDICIN Dermatologi och venerologi; klinisk genetik; invärtesmedicin Klinisk genetik;

    Sammanfattning : Microarray-based comparative genomic hybridization (array-CGH) has emerged as a versatile platform with a wide range of applications in molecular genetics. This thesis focuses on the development of array-CGH with a specific aim to approach disease-related questions through improved strategies in array construction and enhanced resolution of analysis. LÄS MER

  2. 2. Magnesium and the Insulin Resistance Syndrome

    Detta är en avhandling från Uppsala : Acta Universitatis Upsaliensis

    Författare :Arvo Hänni; Uppsala universitet.; [2001]
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Medical sciences; magnesium; calcium; insuline resistance syndrome; hypertension; lipids; MEDICIN OCH VÅRD; MEDICINE; MEDICIN; Geriatrics; geriatrik;

    Sammanfattning : Insulin resistance, defined as a state of reduced insulin-mediated glucose uptake in peripheral tissues, and disorders such as obesity, hypertension, and dyslipidemia, have been found to be associated in the conglomerate of the insulin resistance syndrome. Some antihypertensive drugs have been shown to decrease insulin sensitivity further. LÄS MER

  3. 3. Dentofacial morphology in Turner Syndrome karyotypes

    Detta är en avhandling från Göteborg : University of Gothenburg

    Författare :Sara Rizell; Göteborgs universitet.; Gothenburg University.; [2012]
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; orthodontics; Turner syndrome; genetics; karyotype; geno-phanotype correlation; anthropometrics; craniofacial morphology; dental arch; dental crown width; enamel; primary teeth; elemental composition;

    Sammanfattning : The overall aim of this thesis was to study dentofacial morphology in Turner syndrome (TS) versus controls and the influence hereupon from karyotype. One hundred thirty two TS females (5-66 years of age), from Göteborg, Uppsala and Umeå were participating. LÄS MER

  4. 4. Localization of five human genes by clinical and molecular genetic methods

    Detta är en avhandling från Göteborg

    Författare :Mihailo Vujic; Göteborgs universitet.; Gothenburg University.; [2003]
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Larsen syndrome; LRS1; Multiple hereditary exostoses; EXT2; Best macular dystrophy; VMD2; Noonan syndrome; NS3; Tripeptidyl peptidase-2; TPP2;

    Sammanfattning : Four of the research projects reported in this thesis start from the gene effects observed in clinical practice. Finding a disease causing gene is challenging, exciting and beneficial for the patient, the family and for the society. LÄS MER

  5. 5. Molecular genetic studies of three autosomal recessive disorders : Sjögren-Larsson syndrome, glutathione synthetase deficiency and congenital ichthyosis

    Detta är en avhandling från Uppsala : Acta Universitatis Upsaliensis

    Författare :Maritta Pigg; Uppsala universitet.; [2000]
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Sjögren-Larsson syndrome; glutathione synthetase deficiency; congenital ichthyosis; linkage analysis; allelic association; mutation analysis; transglutaminase 1 gene; Genetik; MEDICINE Dermatology and venerology; clinical genetics; internal medicine Clinical genetics; MEDICIN Dermatologi och venerologi; klinisk genetik; invärtesmedicin Klinisk genetik; Clinical Genetics; klinisk genetik;

    Sammanfattning : Investigations at the DNA level were performed in order to characterise the molecular basis forthree genetic disorders:Sjögren-Larsson syndrome (SLS) is characterised by congenital ichthyosis and severeneurological symptoms. Linkage analysis and allelic association of 24 Swedish families affectedby SLS showed linkage between the disease and the marker D17S805 on chromosome 17. LÄS MER