Search for dissertations about: "Kristina Lagerstedt"

Found 2 swedish dissertations containing the words Kristina Lagerstedt.

2. 1. Genomic rearrangements at the cause of three genetic disorders in man

   Author : Kristina Lagerstedt; Uppsala universitet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Mucopolysaccharidosis type II MPS II ; The Hunter syndrome; Incontinentia pigmenti IP ; Blepharophimosis; ptosis; epicanthus inversus syndrome BPES ; mutational analysis; nonhomologous end joining NHEJ ; homologous recombination HR ; Genetik; Clinical genetics; Klinisk genetik; Medical Genetics; medicinsk genetik;

   Abstract : Genomic rearrangements are a common cause of genetic disorders in man. This thesis describes the analysis of genomic rearrangements observed in patients with the Hunter syndrome (MPS II), incontinentia pigmenti (IP) and the Blepharophimosis, ptosis and epicanthus inversus syndrome (BPES). MPS II is an X-linked recessive lysosomal storage disorder. READ MORE

4. 2. Genetic Analyses of Tumor Progression in Colorectal Cancer

   Author : Kristina Lagerstedt; Göteborgs universitet; []
   Keywords : colorectal cancer; tumor progression; microarray; DNA aberration; gene expression; microRNA; structural variation;

   Abstract : Colorectal tumors are responsible for more than 600 000 deaths per year worldwide and thereby constitute the second most common cause of cancer related mortality. Early detection is related to improved prognosis and identification of genetic biomarkers would meliorate available diagnostic tools. READ MORE