Search for dissertations about: "SNP array"

Showing result 11 - 15 of 43 swedish dissertations containing the words SNP array.

  2. 11. SNP technology and Alzheimer’s disease

    Author : Walter Mathias Howell; Karolinska Institutet; Karolinska Institutet; []
    Keywords : ;

    Abstract : One major goal of genetic research is to understand the role of genetic variation. By far the most common type of such variation in humans involves single DNA bases, and is termed single nucleotide polymorphism (SNP). READ MORE

  4. 12. Microfluidic devices for biotechnology and organic chemical applications

    Author : Helene Andersson; KTH; []
    Keywords : microfluidics; beads; SNP; microfabrication; microcontact printing; self-assembly;

    Abstract : Imagine if you could combine the power and capabilities ofan entire laboratory in the palm of your hand. Advances inmicrofluidic chip technology promise to integrate andminiaturize multiple lab processes into a single palm-sizeddevice. READ MORE

  5. 13. Genetic studies of children with mental retardation

    Author : Saideh Rajaei; Göteborgs universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Mental retardation; Rett syndrome; RTT; early onset infantile RTT; MECP2; SMR; SNP array; copy number variations; CNV; MECP2 duplication syndrom;

    Abstract : Mental retardation (MR) is characterised by significant limitations in intellectual function and adaptive behaviour. It is estimated that MR affects up to 3% of the population in Europe. Patients with MR are an aetiologically heterogeneous group. Approximately 25-35% of the patients have a genetic diagnosis. READ MORE

  6. 14. The Kallikrein-Related Peptidases hK2 and PSA with Emphasis on Genetic Variation, Secretion, and Sperm Motility

    Author : Charlotta Sävblom; Malmö Klinisk kemi; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; human glandular kallikrein 2; KLK3; hk2; prostate-specific antigen; PSA; sperm motility; seminal plasma; androgen receptor; SNP; CAG; KLK2;

    Abstract : Prostate-specific antigen (PSA) and human glandular kallikrein 2 (hK2) are secreted by the prostate into seminal plasma and through leakage into blood. This leakage increases rapidly in prostate disease, and PSA is used worldwide as a marker of prostate cancer. READ MORE

  7. 15. Pathogenetic Mechanisms in Soft Tissue Tumors

    Author : Elsa Arbajian; Avdelningen för klinisk genetik; []
    Keywords : Soft tissue tumors; Sarcomas; Gene fusions; SNP array; Next generation sequencing; Haploidization; Point mutations;

    Abstract : Soft tissue tumors (STT) constitute a heterogeneous group of tumors that arise in tissues of mesenchymal origin. They are currently classified according to morphology and resemblance to normal tissue into over 100 subtypes. READ MORE