Search for dissertations about: "lod score"

Showing result 11 - 15 of 25 swedish dissertations containing the words lod score.

  1. 11. Multiple sclerosis linkage analysis and DNA variation in a complex trait

    University dissertation from Stockholm : Karolinska Institutet, Department of Clinical Neuroscience, Occupational Therapy and Elderly Care Research (NEUROTEC)

    Author : Helena Modin; Karolinska Institutet.; Karolinska Institutet.; [2004]
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES;

    Abstract : Multiple sclerosis is a life-long disease affecting approximately 11.000 individuals in Sweden today. It is the second most common cause of neurological disability amongst young adults, only outnumbered by traffic accidents. Genetic epidemiological studies indicate that genetic factors contribute to the susceptibility of MS. READ MORE

  2. 12. Prevalence and Inheritance of Hip Osteoarthritis in Iceland

    University dissertation from Thorvaldur Ingvarsson FSA Central Hospital, 600 Akureyri Iceland

    Author : Thorvaldur Ingvarsson; Lunds universitet.; Lund University.; [2000]
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Surgery; gene; inheritance; age standardiation; prevalence; THR; Hip; OA; traumatologi; Kirurgi; ortopedi; traumatology; orthopaedics;

    Abstract : Popular Abstract in Swedish Syftet med denna studie var att: (I) undersöka förekomsten av höftartros på Island i jämförelse med södra Skandinavien, (II) utreda frekvensen av operation med total höftledsplastik (THP) för artros på Island, (III) jämföra två olika metoder för bedömning av höftartros med röntgenbilder, (IV) i en populationsbaserad studie påvisa förekomsten av ärftlighet för höftartros på Island, (V) genomföra en undersökning av genomet hos en stor Isländsk familj med höftartros för att identifiera områden på kromosomer som har samband med ärftlig höftartros som leder till THP. Vid granskning av en stor andel av de röntgenundersökningar av tjocktarmen som utfördes på Island under 1990-1996 kunde höftlederna bedömas med avseende på artros. READ MORE

  3. 13. Identification of Candidate Genes in Four Human Disorders

    University dissertation from Uppsala : Acta Universitatis Upsaliensis

    Author : Malin Melin; Uppsala universitet.; [2006]
    Keywords : Genetics; Ichthyosis; Leukodystrophy; Kostmann disease; Autism; Genetic disorders; Candidate gene; Genetik;

    Abstract : The aim of this thesis has been to identify genes and gene regions underlying four different disorders. In papers I-IV, positional cloning methods, such as linkage, association and haplotype analysis have been used for the identification of genomic regions associated with the ichthyosis prematurity syndrome (IPS), adult-onset autosomal dominant leukodystrophy (ADLD) and Kostmann disease. READ MORE

  4. 14. Genetic epidemiology of prostate cancer

    University dissertation from Umeå : Umeå university

    Author : Fredrik Wiklund; Umeå universitet.; [2004]
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Oncology; prostate cancer; epidemiology; genetics; linkage analysis; genome-wide scan; Onkologi; MEDICINE Surgery Oncology; MEDICIN Kirurgi Onkologi; Oncology; onkologi;

    Abstract : Prostate cancer is a major health burden throughout the world, yet the etiology of prostate cancer is poorly understood. Evidence has accumulated supporting the existence of a hereditary form of this disease. READ MORE

  5. 15. Clinical and Genetic Studies of Hearing Impairment

    University dissertation from Uppsala : Acta Universitatis Upsaliensis

    Author : Carina Frykholm; Uppsala universitet.; [2007]
    Keywords : Otorhinolaryngology; NF2; array-CGH; Meniere’s disease; PIK3C2G; X-linked; progressive; hearing impairment; Otorhinolaryngologi;

    Abstract : Monogenic disorders offer a possibility for studies of genetic disturbances in hearing impairment—a knowledge which could be essential for development of future treatment options. In this thesis, the underlying genetic disturbances in neurofibromatosis 2 (NF2) and familial Meniere’s disease (FMD) were evaluated, and familial X-linked hearing impairment was described from a clinical point of view. READ MORE