Search for dissertations about: "homozygous"

Showing result 1 - 5 of 209 swedish dissertations containing the word homozygous.

  2. 1. Welander distal myopathy : clinical and genetic studies

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

    Abstract : 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. READ MORE

  4. 2. Alpha-1-antitrypsin deficiency (PiZ): Clinical studies with special regard to hepatic and vasculitic disorders

    Author : Abdul-Nasser Elzouki; Malmö Institutionen för kliniska vetenskaper; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Gastro-enterology; systemic vasculitis; small-vessel vasculitis; serpins; genetic hemochromatosis; chronic hepatitis C; chronic liver disease; Alpha-1-antitrypsin deficiency; alpha-1-antichymotrypsin deficiency; Gastroenterologi; Urology; nephrology; Urologi; nefrologi;

    Abstract : Homozygous alpha-1-antitrypsin (AAT)deficiency (PiZZ) is known to predispose to emphysema and chronic liver disease (CLD). The overall aim of the studies upon which this thesis is based was to investigate extra-pulmonary disease manifestations of AAT deficiency with special reference to hepatic and vasculitic disorders. READ MORE

  5. 3. CYP2C-dependent drug metabolism in vivo : influence of genetics and drug interactions

    Author : Staffan Rosenborg; Karolinska Institutet; Karolinska Institutet; []
    Keywords : ;

    Abstract : Cytochrome P450 enzymes (CYPs) are responsible for the metabolism of the majority of therapeutic drugs. This thesis focuses on one of the CYP subfamilies, CYP2C, especially CYP2C9 and CYP2C19, which are responsible for the metabolism of 15– 20% of all drugs. All CYP2C enzymes are polymorphic, i.e. READ MORE

  6. 4. Array based genetic profiling of bone and soft tissue tumors

    Author : Karolin Hansén Nord; Avdelningen för klinisk genetik; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES;

    Abstract : In this thesis, genetic alterations in bone and soft tissue tumors have been investigated with the purpose of identifying regions of importance for tumor development, diagnosis and prognosis. This has primarily been performed by array comparative genomic hybridization analysis and gene expression profiling of cytogenetically analyzed tumors. READ MORE

  7. 5. Norrbottnian congenital insensitivity to pain

    Author : Jan Minde; Göran Toolanen; Li Tsai-Fällender; Umeå universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Pain insensitivity; HSAN; Orthopaedics; Ortopedi;

    Abstract : Congenital insensitivity to pain is a rare hereditary neuropathy. We present patients from a large family in Norrbotten, Sweden with a mutation in the nerve growth factor β gene (NGFß). Using a model of recessive inheritance, we identified an 8.3-Mb region on chromosome 1p11. READ MORE