Sökning: "CGH"

Visar resultat 21 - 25 av 76 avhandlingar innehållade ordet CGH.

  1. 21. Molecular Cytogenetics in Sporadic Breast Cancer

    Författare :Karin Rennstam; Bröstcancer-genetik; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; onkologi; oncology; Cytology; Cytologi; cancer; gene expression; gene amplification; tumor development; cDNA microarray; fluorescence in situ hybridization FISH ; breast cancer; comparative genomic hybridization CGH ; cancerology; ERBB2;

    Sammanfattning : In recent time breast cancer has become the most common form of female cancer in the western world. It has been estimated that the lifetime risk of women falling ill from the disease is 10%. The number of patients diagnosed each year has been increasing steadily since the 1970s. LÄS MER

  3. 22. 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

  4. 23. Genomic instability and tumor progression : a cytochemical, molecular biological and cytogenetic study of human tissue from uterine cervix, colon, breast and ovary

    Författare :Harald Blegen; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :Cervical; colorectal; breast; ovarian neoplasia; proliferation; DNA ploidy; cyclins; P53; CGH;

    Sammanfattning : Disruption of cell cycle checkpoint control is believed to be common in human carcinomas. To elucidate how cell cycle defects and genomic instability cooperate we investigated the pathogenesis of carcinomas by using four different models of tumor progression in human tissue samples i.e. from the uterine cervix, colon, breast and ovary. LÄS MER

  5. 24. Investigation of the genetic basis of familial non-BRCA1/2 breast cancer

    Författare :Paula Maguire; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :Familial non-BRCA1 2 breast cancer; linkage analysis; CGH; association study;

    Sammanfattning : Breast cancer is the most common female malignancy in the Western world and approximately 510% of all breast cancer cases present with some degree of family history. In the mid-nineties genetic linkage analyses successfully identified two breast cancer predisposing genes, BRCA1 and BRCA2. LÄS MER

  7. 25. Gene dose imbalances in children with mental retardation

    Författare :Jacqueline Schoumans; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :Mental retardation; MCA MR syndromes; cromosome abnormalities; subtelomeric FISH; comparative genomichybridization; array-CGH;

    Sammanfattning : Submicroscopic chromosome aberrations can cause mental retardation (MR), congenital malformations and miscarriage. It is difficult to estimate the contribution of cytogenetic abnormalities to MR because of relatively low detection sensitivity of conventional cytogenetic methods used in the diagnostic setting. LÄS MER