Sökning: "genomic microarrays"

Visar resultat 1 - 5 av 40 avhandlingar innehållade orden genomic microarrays.

  1. 1. Microarray-Based Comparative Genomic Hybridization in Neurofibromatoses and DiGeorge Syndrome

    Författare :Kiran K. Mantripragada; Jan P. Dumanski; Peter Lichter; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; array-CGH; neurofibromatoses; neurofibromatosis type 1; neurofibromatosis type 2; schwannomatosis; DiGeorge syndrome; 22q11 syndrome; chromosome 22; genomic microarrays; DNA copy number; Genetik; Clinical genetics; Klinisk genetik;

    Sammanfattning : Microarray-based comparative genomic hybridization (array-CGH) has emerged as a versatile platform with a wide range of applications in molecular genetics. This thesis focuses on the development of array-CGH with a specific aim to approach disease-related questions through improved strategies in array construction and enhanced resolution of analysis. LÄS MER

  3. 2. Array based genetic profiling of chronic lymphocytic leukemia

    Författare :Rebeqa Gunnarsson; Stamcellscentrum (SCC); []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; prognostic markers; copy-number neutral loss of heterozygosity; copy-number aberrations; chronic lymphocytic leukemia; genomic microarrays; clonal evolution; stereotyped B-cell receptors;

    Sammanfattning : Although no common genetic defect has been described in chronic lymphocytic leukemia (CLL), recurrent genomic aberrations (i.e. deletions of chromosome 11q, 13q, 17p and trisomy 12) are important for prognostication. Deletion of 13q as single aberration is associated with the best prognosis, whereas del(11q) and del(17p) predict a poor outcome. LÄS MER

  4. 3. Computational biology of blood disorders: Patterns and algorithms

    Författare :Björn Nilsson; Institutionen för laboratoriemedicin; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Clinical genetics; Klinisk genetik; Image analysis; Ontological analysis; Pattern recognition; Gene expression profiling; Microarrays; Hematologic malignancies; Acute leukemia; Chronic myeloid leukemia;

    Sammanfattning : The morphological and molecular characterization and of malignant blood disorders is pivotal to ensure a correct diagnosis, guide therapy, and, in the longer term, to identify their molecular causes. Over the past several years, new technology has increased our abilities to describe, typecast, and understand hematologic malignancies beyond what was previously possible. LÄS MER

  5. 4. Metabolic Engineering of Xylose-Utilising Saccharomyces cerevisiae Strains. A Closer Look at Recombinant Strains Based on the Xylose Reductase-Xylitol Dehydrogenase Pathway

    Författare :Marie Jeppsson; Teknisk mikrobiologi; []
    Nyckelord :TEKNIK OCH TEKNOLOGIER; ENGINEERING AND TECHNOLOGY; Microbiology; bacteriology; virology; mycology; Mikrobiologi; bakteriologi; virologi; mykologi; microarrays; cofactors; XK; XDH; XR; lignocellulose; xylose; ethanol; Saccharomyces cerevisiae; yeast;

    Sammanfattning : Saccharomyces cerevisiae produces ethanol efficiently from the hexose sugars in lignocellulose hydrolysates, but it can not utilise pentose sugars such as xylose and arabinose. Stable xylose-utilising S. LÄS MER

  7. 5. Genetic and Epigenetic Characterisation of Breast Tumours

    Författare :Karolina Holm; Bröstcancer-genetik; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Breast cancer; PIK3CA; PTEN; PI3K pathway; CCND1; microarrays; molecular subtypes; DNA methylation; EZH2; H3K27me3; PRC2; histone modification;

    Sammanfattning : Breast tumours harbour a large amount of genetic and epigenetic alterations, which are associated with e.g. tumour aggressiveness, prognosis, and response to therapy. LÄS MER