Sökning: "19q13"

Visar resultat 11 - 15 av 16 avhandlingar innehållade ordet 19q13.

  1. 11. Genetic studies in mood disorders

    Författare :Magnus Lekman; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Mood disorders, including bipolar disorder (BPD) and major depressive disorder (MDD), are highly complex psychiatric disorders. Decades of genetic studies have generated a large number of putative genetic susceptibility variants. However, with exception of CACNA1C, SYNE1 and ANK3 in BPD no robust association has as yet been identified. LÄS MER

  2. 12. Investigation of immunological preconditions in MS patients "MS immunopathic trait"

    Författare :Sara Haghighi; Göteborgs universitet; []
    Nyckelord :multiple sclerosis; siblings; CSF; oligoclonal; cytokine; sulfatide; genetics; trait;

    Sammanfattning : We examined 47 MS patients, 47 healthy siblings and 50 healthy unrelated individuals with blood and CSF analysis and found that 19 % (9/47) of healthy siblings of clinically definite multiple sclerosis patients had an intrathecal immunological reaction to ¡Ý 2 CSF-enriched OCB, in contrast to 4% (2/50) of the unrelated healthy controls. We termed this condition ¡°MS immunopathic trait¡±. LÄS MER

  3. 13. Basis for reclassification of nasopharyngeal carcinoma

    Författare :Jian-Yong Shao; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Nasopharyngeal carcinoma (NPC) shows broad differences in racial and geographical distribution, radiosensitivity, and a multifactorial etiology. This thesis aims to identify molecular biomarkers with potentially valuable for prognostic implications in NPC. LÄS MER

  4. 14. Linkage and association analysis in multiple sclerosis

    Författare :Yamei Dai; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Multiple sclerosis (MS) is a chronic inflammatory disease of the central nervous system, which is characterized by relapsing or progressive demyelinating plaques in the brain and spinal cord. It is well established that complex genetic factors influence susceptibility to MS. LÄS MER

  5. 15. Genetic basis of congenital nephrotic syndrome and generation of an animal model

    Författare :Heli Putaala; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Congenital nephrotic syndrome, NPHS1, is a disease highly enriched in Finland with incidence of 1:8200 births. The disease is characterized by massive proteinuria, go % of which is albumin, starting in utero, large placenta, which weighs over 25 % of the child's birth weight, and manifestation of proteinuria soon after birth. LÄS MER