Search for dissertations about: "translocation breakpoint"

Showing result 1 - 5 of 19 swedish dissertations containing the words translocation breakpoint.

  2. 1. 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

  4. 2. 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

  5. 3. The role of PDGFB in dermatofibrosarcoma protuberans and giant cell fibroblastoma

    Author : Kevin P O'Brien; Karolinska Institutet; Karolinska Institutet; []
    Keywords : Dermatofibrosarcoma protuberans; giant cell fibroblastoma; translocation; FISH; translocation breakpoint; fusion gene; oncogene; Platelet derived growth factor B-chain; collagen type I alpha 1; tumor formation; autocrine stimulation;

    Abstract : Dermatofibrosarcoma protuberans (DFSP) and giant cell fibroblastoma (GCF) are rare invasive tumors of the dermis. GCF is considered the juvenile form of DFSP. Both DFSP and GCF are characterized by the presence of chromosomal aberrations involving chromosomes 17 and 22. READ MORE

  6. 4. The biological role and clinical impact of SYT-SSX fusion gene and IGF-1R in synovial sarcoma

    Author : Yuntao Xie; Karolinska Institutet; Karolinska Institutet; []
    Keywords : Synovial sarcoma; translocation; SYT-SSX; IGF-1R cyclin D1; cell cycle; proliferation; apoptosis.;

    Abstract : Synovial sarcoma, which is a highly malignant soft tissue tumour occurring mainly in young and middle-aged adults, is characterized by the translocation t(X; 18)(p 11.2; q 11.2). READ MORE

  7. 5. Molecular Characterisation of Structural Chromosomal Abnormalities Associated with Congenital Disorders

    Author : Mahmoud R. Mansouri; Niklas Dahl; Hans Van Bokhoven; Uppsala universitet; []
    Keywords : Genetics; Chromosomal abnormalities; Mental retardation; Hypospadias and anal malformation; Premature ovarian failure; Autism; Array-CGH; ZDHHC15; Genetik;

    Abstract : Chromosomal abnormalities are defined as changes in the chromosome structure and fall in one of two categories. The first category is numerical alterations while the second category consists of structural abnormalities. Structural chromosomal abnormalities do not always interrupt genes in order to cause disease. READ MORE