Search for dissertations about: "Lod Score"

Showing result 21 - 25 of 25 swedish dissertations containing the words Lod Score.

  1. 21. Genetic study of autosomal dominant progressive external ophthalmoplegia and familial myasthenia gravis : linkage analysis, candidate gene cloning and mutation detection

    Author : Fang-Yuan Li; Karolinska Institutet; Karolinska Institutet; []
    Keywords : ;

    Abstract : Identification of genes responsible for familial human diseases is a major task of medical genetics. In this process, linkage analysis, candidate gene screening and mutation detection are the three major steps (Paper I-VI). READ MORE

  2. 22. Candidate genes and chromosomal loci in multiple sclerosis

    Author : Chun Xu; Karolinska Institutet; Karolinska Institutet; []
    Keywords : ;

    Abstract : Multiple sclerosis (MS) is a demyelinating disorder of the central nervous system with a putatively autoimmune etiology. The pathophysiological basis of MS is incompletely known, although both genetic and environmental factors are presumed to be of importance. READ MORE

  3. 23. Welander distal myopathy : gene mapping and analysis of candidate genes

    Author : Désirée von Tell; Karolinska Institutet; Karolinska Institutet; []
    Keywords : Welander Distal Myopathy; 2p13; linkage; candidate genes; founder mutation; mutation screening.;

    Abstract : Distal myopathies constitute of a very heterogeneous group of muscular disorders. Distal myopathies have previously been classified according to features such as; clinical symptoms, age of onset and histopathological changes. READ MORE

  4. 24. Genetic studies of frontotemporal dementia : with particular emphasis on the tau gene

    Author : Susanne Froelich Fabre; Karolinska Institutet; Karolinska Institutet; []
    Keywords : ;

    Abstract : Frontotemporal dementia (FTD) is next to Alzheimer's disease one of the common causes of early onset progressive dementia. FTD is mainly characterized by personality changes such as disinhibition, although there are large clinical and neuoropathological variations among the cases. READ MORE

  5. 25. Identification and characterization of candidate genes for type 2 diabetes in the GK rat

    Author : Hossein Fakhrai-Rad; Karolinska Institutet; Karolinska Institutet; []
    Keywords : ;

    Abstract : Type 2 diabetes is a common multifactorial disorder with complex genetics, which presents with a heterogeneous clinical phenotype as a result of interaction between genetic susceptibility and environmental risk factors. Hence, the search for susceptibility genes for type 2 diabetes in man is difficult. READ MORE