Sökning: "array-CGH"

Visar resultat 16 - 20 av 37 avhandlingar innehållade ordet array-CGH.

  1. 16. 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

  3. 17. 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. 18. Behind the scenes of thyroid tumors : underlying genetic mechanisms

    Författare :Jia Jing Lee; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :Familial medullary thyroid cancer; follicular thyroid cancer; anaplastic thyroid cancer; CCND1; UBCH10; p16; RASSF1A; BRAF; array-CGH; tumor progression; global methylation; LINE-1; LUMA;

    Sammanfattning : Thyroid cancer is the most frequently observed malignancy involving endocrine tissues. This group of diseases is also the major cause of death related to neoplasia of the endocrine system. Tumors in the thyroid gland are common in the general population and the majority represents benign follicular adenoma (FTA). LÄS MER

  5. 19. Characterization of genetic alterations in ovarian cancer associated with chemotherapy response

    Författare :Lovisa Österberg; Göteborgs universitet; []
    Nyckelord :Oncology; ovarian cancer; chemotherapy resistance; predictive markers;

    Sammanfattning : Ovarian cancer is the most lethal of all gynecological malignancies, and exhibit an overall fiveyear survival rate of only 48% in Sweden. The high mortality in ovarian cancer is largely due to late diagnosis and chemotherapy resistance. LÄS MER

  7. 20. Unraveling genetic mechanisms in autism spectrum disorders

    Författare :Anna Bremer; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Autism Spectrum Disorders (ASDs) are a group of neurodevelopmental disorders characterized by impairments in socialization and communication accompanied by repetitive and stereotypic behaviors. ASDs are highly heritable and heterogeneous with a complex genetic etiology. LÄS MER