Sökning: "familial studies"

Visar resultat 16 - 20 av 269 avhandlingar innehållade orden familial studies.

1. 16. Genetic studies in familial non-BRCA breast cancer

   Författare :Camilla Wendt; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :;

   Sammanfattning : Family history is an important risk factor for breast cancer, the presence of breast cancer in a first degree relative in general nearly doubles the risk and the risk increases with the number of affected relatives. Pathogenic mutations in BRCA1, BRCA2 and other high- and moderate risk-genes account for 25% of the familial risk for breast cancer. LÄS MER

3. 17. Agnostic studies in epidemiology

   Författare :Torsten Dahlén; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :;

   Sammanfattning : In epidemiology there has been an consistent effort to construct refined methods aiming towards the ability to draw casual inference between an exposure and an outcome. This thesis, partly inspired by the genome-wide association studies, has on the contrary strived towards exploration of data. LÄS MER

4. 18. Genetic studies of hypospadias

   Författare :Louise Frisén; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :Hypospadias; genetic; complex trait; low birth weight; twin study; segregation analysis; genome-wide linkage analysis; mutation analysis; HOXA13 gene;

   Sammanfattning : Hypospadias is defined as an abnormal opening of the urethra on the underside of the penis. It is a frequently found malformation with an incidence of 3 per 1000 males. The aim of this thesis was to identify genetic and environmental factors in the pathogenesis of hypospadias. LÄS MER

5. 19. Familial hypercholesterolemia in Sweden : genetic and clinical studies

   Författare :Peter Benedek; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :;

   Sammanfattning : Prevention of premature disease and death from cardiovascular complications of atherosclerosis is an important goal for public health, and the early identification of individuals with increased risk is an important goal of modern medicine. Familial hypercholesterolemia (FH) is one of the most common monogenic diseases (1/250 to 1/300) where strong evidence of positive health effects of intervention has been established. LÄS MER

7. 20. Metabolomics studies of ALS : a multivariate search for clues about a devastating disease

   Författare :Anna Wuolikainen; Peter M Andersen; Henrik Antti; Stefan L Marklund; Thomas Moritz; Thomas Hankemeier; Umeå universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Amyotrophic lateral sclerosis ALS ; motor neuron disease; Lou Gehrig’s disease; human disease; CSF; biomarkers; metabolomics; metabonomics; chemometrics; design of experiments; multivariate analysis.; Neurology; Neurologi; Neurology; neurologi;

   Sammanfattning : Amyotrophic lateral sclerosis (ALS), also known as Charcot’s disease, motor neuron disease (MND) and Lou Gehrig’s disease, is a deadly, adult-onset neurodegenerative disorder characterized by progressive loss of upper and lower motor neurons, resulting in evolving paresis of the linked muscles. ALS is defined by classical features of the disease, but may present as a wide spectrum of phenotypes. LÄS MER