Search for dissertations about: "chromosome 22"

Showing result 6 - 10 of 67 swedish dissertations containing the words chromosome 22.

  2. 6. 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. 7. Genetic analysis of neurofibromatosis type 2 (NF2) patients and NF2-associated tumors with emphasis on chromosome 22 deletions

    Author : Carl E G Bruder; Karolinska Institutet; Karolinska Institutet; []
    Keywords : ;

    Abstract : Neurofibromatosis type 2 (NF2) is an autosomal dominant disease with the hallmark of bilateral vestibular schwannomas. NF2 patients may also develop schwannomas at other locations as well as meningiomas, neurofibromas and ependymomas. NF2 shows a distinct clinical variability ranging from very mild to severe forms. READ MORE

  5. 8. Characterization of Eae4 and Eae19-22 in autoimmune neuroinflammation

    Author : Rita Nohra; Karolinska Institutet; Karolinska Institutet; []
    Keywords : QTL; EAE; MS; epistasis; AIL.;

    Abstract : Multiple Sclerosis (MS) is the most common chronic inflammatory disorders of the central nervous system (CNS) with a prevalence of 1-211000 in the Northern European population. MS is caused by a combination of environmental factors and multiple genes. READ MORE

  6. 9. Identification and characterization of candidate genes for neuroblastoma development

    Author : Cecilia Krona; Göteborgs universitet; []
    Keywords : NATURVETENSKAP; NATURAL SCIENCES; cancer; tumor; child; embryonal; neural crest; neuroblastoma; chromosome 1; 1p36; mutation; expression; tumor suppressor gene; UBE4B; KIF1B; PGD; CORT; DFFA; PEX14; ICAT; CASP9; ENO1; MBP1; APITD1; PHOX2B;

    Abstract : Neuroblastoma (NB) is the most common tumor during infancy. It arises from undifferentiated cells in the sympathetic nervous system and is characterized by both clinical and genetic heterogeneity. One of the features of NBs with unfavorable outcome is loss on distal chromosome 1p. READ MORE

  7. 10. Molecular Genetic Studies of Ph-positive Leukemias and the BCR and ABL Genes

    Author : Thoas Fioretos; Avdelningen för klinisk genetik; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; CRKL; CRK; ABL; BCR; acute lymphoid leukemia; chronic myeloid leukemia; Philadelphia chromosome; Molecular Genetics; Cytogenetics; IFN-alfa; Haematology; extracellular fluids; Hematologi; extracellulära vätskor;

    Abstract : In the present thesis molecular genetic methods were used to address different biological and clinical aspects of Philadelphia (Ph) chromosome-positive leukemias and the BCR and ABL genes. In the first study, children with Ph-positive chronic myeloid leukemia (CML) were found to have essentially the same breakpoint locations in BCR as adults, a pattern which differs from the one seen in Ph-positive acute lymphoid leukemia (ALL). READ MORE