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  1. 1. CYTOGENETIC AND MOLECULAR GENETIC CHARACTERIZATION OF LIPOMAS

    Författare :Hammurabi Bartuma; Avdelningen för klinisk genetik; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; soft tissue tumors; adipocytic tumors; conventional lipomas; spindle cell lipoma; HMGA2; cytogenetic; molecular genetic; SNP array; GGE;

    Sammanfattning : The focus of this thesis was to study cytogenetic and molecular genetic aberrations in lipomas. For this purpose, chromosome banding analysis, fluorescence in situ hybridization (FISH), as well as high resolution single nucleotide polymorphism (SNP)–arrays were used to identify recurrent chromosomal aberrations in lipomas. LÄS MER

  3. 2. Molecular Genetic Alterations In Endometrial And Ovarian Cancers

    Författare :Anjila Koul; Bröstcancer-genetik; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; KRAS; PTEN; TP53; Overexpression; Mutation; Microsatellite instability; Complex atypical hyperplasia; Endometrial cancer; Ovarian cancer; cancer; onkologi; Cytologi; cancerology; oncology; Cytology; CNS metastasis; Cytogenetic analysis; BRCA2; BRCA1; B-catenin; CDKN2A;

    Sammanfattning : Endometrial cancer is the most common gynecological cancer diagnosed in western countries. Complex atypical hyperplasia (CAH) reflects a state of hyperestrinism and its role as a precursor lesion of this cancer is established. LÄS MER

  4. 3. Cytogenetic and molecular analysis of chromosomal rearrangements associated with neuropsychiatric disorders

    Författare :Dmitry Tentler; Niels Tommerup; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Mental retardation; autism; Asperger syndrome; chromosomal rearrangement; Genetik; Clinical genetics; Klinisk genetik; Clinical Genetics; klinisk genetik;

    Sammanfattning : Genetic factors are important in the aetiology of neuropsychiatric disorders. Analysis of chromosomal abnormalities associated with these disorders may provide locus specific information for the identification of candidate genes and, subsequently, for our understanding of brain development and functioning. LÄS MER

  5. 4. Novel Tumor Suppressor Gene Candidates in Experimental Endometrial Carcinoma - From Cytogenetic to Molecular Analysis

    Författare :Carola Hedberg; Göteborgs universitet; []
    Nyckelord :cancer; endometrial cancer; tumor suppressor gene; rat models; Skip; Myo1c;

    Sammanfattning : Endometrial carcinoma (EC) is the most common form of gynecological malignancy, ranking fourth in incidence among tumors diagnosed in women. As is the case with other complex diseases, detailed analyses of the underlying mechanisms of cancer are difficult, due mainly to the genetic heterogeneity of the human population and differences in the environment and lifestyle of individuals. LÄS MER

  7. 5. Cytogenetic studies of normal kidney tissue and renal cell carcinoma

    Författare :Peter Elfving; Malmö (Abrahamsson) Urologi; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Cytology; Klinisk genetik; Clinical genetics; nonneoplastic kidney tissue; renal cell carcinoma; trisomy 7; Cytogenetics; FISH; oncology; cancerology; Cytologi; onkologi; cancer;

    Sammanfattning : In the present thesis normal kidney tissue and renal cell carcinoma (RCC) were studied by cytogenetic and fluorescence in situ hybridization (FISH) methods to investigate chromosomal aberrations. In the first study, 4 samples of nonneoplastic kidney tissue were cultured for cytogenetic analysis and trisomy 7 was found in all cases in 3-15% of the cells. LÄS MER