Sökning: "comparative genomic hybridization CGH"

Visar resultat 11 - 15 av 38 avhandlingar innehållade orden comparative genomic hybridization CGH.

  1. 11. Genomic changes defining the progression of human colorectal and cervical tumors

    Författare :Kerstin Heselmeyer; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :colorectal; cervical; anal neoplasias proliferation; DNA ploidy; p53 and p21WAF1 expression; HPV; CGH;

    Sammanfattning : Defining changes during the carcinogenesis and progression of tumors is a major way to obtain a better understanding of the mechanisms of cancer development. We therefore investigated the carcinogenesis process in the colon-rectum and in the uterine cervix by different cell chemical, immunohistochemical and cytogenetic methods. LÄS MER

  3. 12. Towards improved management of Lynch syndrome; ovarian cancer profiles, risk perception, knowledge and family perspectives

    Författare :Katarina Bartuma; Bröstcancer-genetik; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; ovarian cancer; Lynch syndrome; family relations; communication; interview; genetic knowledge; risk perception; questionnaire; gene expression profiling; array CGH; hereditary breast and ovarian cancer; mismatch repair;

    Sammanfattning : Lynch syndrome (hereditary nonpolyposis colorectal cancer) is one of the most common hereditary cancer syndromes and predisposes to several cancer types, including cancer of the colorectum, endometrium and ovaries. Cancer develops at an early age and one third of the individuals are affected by a metachronous cancer. LÄS MER

  4. 13. Molecular mechanisms of tumor development in hyperparathyroidism

    Författare :Filip Farnebo; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :parathyroid; hyperparathyroidism; MEN 1; FIHP; loss of heterozygosity; comparative genomic hybridization; mutation analysis; in situ hybridization;

    Sammanfattning : Loss of heterozygosity (LOH) analysis and comparative genomic hybridization (CGH) were used in an attempt to identify recurrent chromosomal alterations in different types of parathyroid tumors. These included familial and sporadic, benign and malignant, as well as primary, irradiation associated and secondary tumors. LÄS MER

  5. 14. 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

  7. 15. Pheochromocytoma and abdominal paraganglioma : clinical and genetic aspects

    Författare :Elisabet Edström Elder; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :Pheochromocytomas; abdominal paragangliomas; RET; MEN 2A; tumour development; chromosome 1; comparative genomic hybridisation; in situ hybridization; loss of heterozygosity.;

    Sammanfattning : Pheochromocytomas and abdominal paragangliomas are rare catecholamine producing tumours arising from sympathoadrenal paraganglia located within and outside of the adrenal medulla, respectively. The great majority of tumours are benign and cured by surgery. LÄS MER