Search for dissertations about: "breakpoints"

Showing result 1 - 5 of 53 swedish dissertations containing the word breakpoints.

  2. 1. Characterization of human chromosome 22 : cloning of breakpoints of the constitutional translocation t(11;22)(q23;q11) and detection of small constitutional delections by microarray CGH

    Author : Isabel Tapia Paez; Karolinska Institutet; Karolinska Institutet; []
    Keywords : Chromosome 22; t 11; 22 q23; q 11 ; inverted repeats palindromes; DiGeorge Velo-cardio-facial syndrome; array-CGH;

    Abstract : Chromosome 22 is the second smallest human chromosome, composing approximately 1.5% of the genome. The short arm of this acrocentric chromosome harbors ribosomal genes and the long arm contains the protein coding genes. READ MORE

  4. 2. Characterization of chromosome abnormalities

    Author : Anna Lindstrand; Karolinska Institutet; Karolinska Institutet; []
    Keywords : ;

    Abstract : Inborn chromosome abnormalities are a frequent cause of mental retardation and birth defects. Apart from aberrations that are visible in the microscope, a number of submicroscopic alterations have recently been discovered, and all of these chromosome changes are in fact the result of DNA alterations at the molecular level. READ MORE

  5. 3. Genetic Characterization of Bone and Soft Tissue Tumors

    Author : Anna Dahlen; Avdelningen för klinisk genetik; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Clinical genetics; Klinisk genetik; cytogenetik; Genetik; cytogenetics; mesenchymal tumor; pericytoma; Genetics; chondroma; lipoma;

    Abstract : Bone and soft tissue tumors (BSTT) constitute a heterogeneous group of neoplasms of mesenchymal and neuroectodermal origin. Although many BSTT are rare, it has become clear that BSTT are characterized by recurrent acquired chromosomal aberrations, and the general aim of this thesis have been to apply molecular genetic and molecular cytogenetic techniques to further characterize recurrent breakpoints and deletions, and to search for candidate target genes. READ MORE

  6. 4. Molecular cytogenetic characterization of chromosome aberrations in soft tissue and bone tumors

    Author : Malin A Nilsson; Avdelningen för klinisk genetik; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetik; cytogenetik; cytogenetics; Genetics; breakpoint mapping; FISH; structural rearrangements;

    Abstract : Bone and soft tissue tumors (BSTT) belong to a diverse group of solid tumors of mesenchymal origin, with a large number of histological types affecting individuals of all ages. The general aim of the present thesis (Articles I-V) was to investigate in detail the genetic aberrations in selected subtypes of benign and malignant BSTT. READ MORE

  7. 5. Towards individualised treatment of tuberculosis

    Author : Katarina Niward; Thomas Schön; Jakob Paues; Judith Bruchfeld; Maria Lerm; Åse B. Andersen; Linköpings universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES;

    Abstract : Each year, around 10 million of individuals develop active tuberculosis (TB). Worldwide, TB is the leading cause of death from an infectious agent surpassing both malaria and HIV. READ MORE