Sökning: "Congenital abnormalities"

Visar resultat 16 - 20 av 37 avhandlingar innehållade orden Congenital abnormalities.

  1. 16. On Aniridia in Sweden and Norway

    Författare :Ulla Edén; Lund Oftalmologi; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Gillespie syndrome; Aniridia; PAX6 gene;

    Sammanfattning : Introduction Aniridia (iris more or less missing), is a congenital, dominant, inherited, serious and sight-threatening disease, most often appearing as an isolated eye disorder. It is caused by mutations in the PAX6 gene, the master gene of the development of the eye. Typically, Aniridia causes severe visual impairment. LÄS MER

  3. 17. The Enteric Nervous System, Plasticity and Survival

    Författare :Katarina Sandgren; Institutionen för experimentell medicinsk vetenskap; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Neurology; Nitric oxide synthase; Neuropeptides; Neuronal survival; Lethal spotted mice; Interstitial cells of Cajal; Hirschsprung s disease; Cell cultures; Enteric nervous system; neuropsychology; neurophysiology; Neurologi; neuropsykologi; neurofysiologi;

    Sammanfattning : The thesis deals with plasticity in terms of neurotransmitter expression and survival of neurons in the adult enteric nervous system (ENS). Several motility disorders have been suggested to originate in developmental defects, neurodegeneration, or insufficient innervation by the ENS. LÄS MER

  4. 18. Development of novel therapies for Diamond-Blackfan Anemia

    Författare :Shubhranshu Debnath; Hematopoes och genterapi; []
    Nyckelord :;

    Sammanfattning : Diamond-Blackfan anemia is a congenital erythroid hypoplasia manifesting early inlife. In at least 60-70% of cases, DBA is caused by a functional haploinsufficiencyof genes encoding for ribosomal proteins. Approximately, 25% percent of patientshave mutations in the gene encoding ribosomal protein S19 (RPS19). LÄS MER

  5. 19. Expanding the genetic and phenotypic spectrum of skeletal dysplasias

    Författare :Anna Hammarsjö; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Skeletal dysplasias constitute a large and heterogeneous group of disorders, many causing disabilities with profound effects on the quality of life of the affected individuals and their families. Each individual skeletal dysplasia is rare, however, as more than 450 different disorders have been described, skeletal dysplasias as a group affect approximately three in 10 000 individuals. LÄS MER

  7. 20. New molecular tools for prenatal diagnosis

    Författare :Ellika Sahlin; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Prenatal diagnosis enables identification of severe disease in the fetus, and allows for planning and management of future pregnancies if an underlying genetic mechanism is identified. The studies included in this thesis have taken advantage of the dramatic progress in medical genetics, in order to develop and evaluate new procedures to diagnose genetic disorders in fetal life. LÄS MER