Sökning: "lod score"

Visar resultat 16 - 20 av 25 avhandlingar innehållade orden lod score.

  1. 16. Genetic studies of neurological disorders : Rett syndrome and HD-like familial prion disease

    Författare :Fengqing Xiang; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :Huntington s disease HD ; MECP2 gene; mutation; linkage analysis; prion disease; prion protein PrP ; Rett syndrome RTT ; X-chromosome inactivation XCI .;

    Sammanfattning : Rett syndrome (RTT) is a severe childhood neurodevelopmental disorder, which almost exclusively affects females with a prevalence of 1 in 10 000-15 000, >99% of the cases are sporadic. It is commonly thought of as an X-linked dominant disorder lethal to males. LÄS MER

  3. 17. Welander distal myopathy : clinical and genetic studies

    Författare :Gabrielle Åhlberg; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :Welander distal myopathy; neurogenic component; rimmed vacuoles; linkage; chromosome 2p13; candidate genes; common founder; homozygous form; variable clinical expression;

    Sammanfattning : Distal myopathies are a group of muscular disorders described in many countries with different inheritance patterns and variable progression rates. Welander distal myopathy (WDM) is characterised by autosomal dominant inheritance, late onset and distal distribution of muscular weakness. Most cases originate from the middle parts of Sweden. LÄS MER

  4. 18. Genetic studies of colorectal cancer

    Författare :Johanna Skoglund; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :colorectal cancer; linkage analysis; TGFBR1; case-control study; meta-analysis;

    Sammanfattning : Colorectal cancer is the third most commonly diagnosed cancer worldwide with an incidence rate of over 1 million cases per year. A genetic contribution has been suggested to be involved in around 35% of all colorectal cancer cases. LÄS MER

  5. 19. Susceptibility gene mapping in multiple sclerosis

    Författare :Bing He; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Multiple sclerosis (MS) is a chronic inflammatory disease characterized by relapsing or progressive demyelination of the central nervous system (CNS). Increasing evidence supports that genetic factors confer susceptibility to MS resulting in an unknown mode of inheritance as a complex trait. LÄS MER

  7. 20. Molecular genetics of hereditary non-polyposis colorectal cancer

    Författare :Pia Tannergård; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Colorectal cancer (CRC) is one of the most prevalent malignancies in the Western World and one of the most predominant causes of death by cancer. There is a subgroup of syndromes with a high incidence of CRC which is transmitted in an autosomal dominant fashion. LÄS MER