Sökning: "constitutional translocation"

Hittade 4 avhandlingar innehållade orden constitutional translocation.

  1. 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

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

    Sammanfattning : 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. LÄS MER

  3. 2. Approaches for the localization and identification of human cancer genes

    Författare :Wong-Onn Lui; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :CGH; FISH; SKY; karyotyping; SNP array; expression array; VHL-associated pheochromocytomas; hemangioblastomas; familial renal cell carcinoma; constitutional translocation; sporadic follicular thyroid tumors; chromosomal alterations; fusion oncogene; FTCF-PPAR gamma l; PAX8-PPAR gamma l.;

    Sammanfattning : Chromosomal aberrations have been recognized as important observations that underpin the concept of a mutator phenotype in cancer. In this thesis, two basic strategies were applied to map the location of cancer-related genes in several types of cancers. LÄS MER

  4. 3. Chemical, pharmacokinetic and biological aspects of platinum-based drugs

    Författare :Jeffrey R Yachnin; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : The use of cisplatin for the treatment of metastatic testicular cancer is a medical historical landmark given that, for the first time, patients could be cured with drug therapy. A third generation platinum-based drug, oxaliplatin, has been registered for use in the treatment of colorectal cancer. LÄS MER

  5. 4. Molecular genetics of kidney cancer : chromosomal regions of importance in the development of renal cell carcinoma

    Författare :Rikard Erlandsson; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :Carcinoma; renal cell Chromosomes; human; pair 3 Chromosome deletion Genes; suppressor; tumor Sequence analysis; DNA. Renal cell carcinoma RCC is a malignancy of the human kidney; occurring most commonlyduring the seventh and eighth decades of;

    Sammanfattning : Renal cell carcinoma (RCC) is a malignancy of the human kidney, occurring most commonly during the seventh and eighth decades of life. The incidence is high in the Nordic countries and the five year survival is 40-50%. Smoking is a risk factor inferring a minor increase in risk. The best established risk factor is obesity. LÄS MER