Sökning: "Chromosomal rearrangements"

Visar resultat 11 - 15 av 49 avhandlingar innehållade orden Chromosomal rearrangements.

  1. 11. Resolving the Genomic Complexity of Pediatric Acute Lymphoblastic Leukemia

    Författare :Yanara Marincevic-Zuniga; Ann-Christine Syvänen; Caroline Heckman; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Acute lymphoblastic leukemia ALL ; 450k array; DNA methylation; RNA-sequencing; linked-read WGS; B-other; fusion gene; chromosomal translocation; Medicinsk genetik; Medical Genetics;

    Sammanfattning : Acute lymphoblastic leukemia (ALL) is the most common pediatric cancer in the Nordic countries. Structural chromosomal rearrangements are a hallmark of ALL and represent key markers for diagnosis, risk stratification and prognosis. LÄS MER

  3. 12. Chromosomal Instability and Genomic Amplification in Bone and Soft Tissue Tumours

    Författare :David Gisselsson Nord; Avdelningen för klinisk genetik; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; nuclear atypia; kinetochore; anaphase bridge; p53; breakage-fusion-bridge cycle; TP53; HMGIC; MDM2; mitotic instability; genomic instability; FISH; osteosarcoma; liposarcoma; amplification; tumour; chromosome; cytogenetics; Clinical genetics; Klinisk genetik;

    Sammanfattning : Acquired genetic abnormalities are found in all types of malignant tumours and may contribute to neoplastic processes by altering protein structure or dosage. Many bone and soft tissue tumours (BSTT) are characterised by complex patterns of chromosome changes, including extensive intratumour heterogeneity and amplification of DNA sequences. LÄS MER

  4. 13. Complex genomic rearrangements in rare brain disorders : genetic architecture and molecular consequences

    Författare :Jakob Schuy; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Structural variants (SVs) within the genome, such as deletions, duplications, inversions, and translocations, are common but underappreciated causes of rare diseases. Complex genomic rearrangements involving two or more SVs in cis are incredibly challenging to detect. LÄS MER

  5. 14. Prognostic factors in squamous cell carcinoma of the head and neck, with emphasis on 11q13 rearrangements and cyclin D1 overexpression

    Författare :Jan Åkervall; Lund näs- och halssjukdomar Öron-; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; audiologi; Otorinolaryngologi; auditive system and speech; audiology; head and neck; squamous cell carcinoma; genetics; prognosis; CCND1; chromosomes; cyclin D1; chemotherapy; Otorhinolaryngology; gene expression; hörsel- och talorganen;

    Sammanfattning : At present, clinical outcome or response to therapy can not be fully predicted in individual cases of squamous cell carcinoma of the head and neck (SCCHN). The overall aim of the present studies was to investigate potential prognostic factors, more closely related to the malignant progression of a tumor than the established markers, such as the TNM-classification system. LÄS MER

  7. 15. Genetic characterization of non-Hodgkin lymphomas using in situ hybridization

    Författare :Svetlana Lagercrantz; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :Myelodysplastic syndrome; non-Hodgkin lymphoma; fluorescencein situ hybridization; LAZ3BCL6 expression; chromosome rearrangements;

    Sammanfattning : Fluorescence in situ hybridization (FISH) has been shown to be a valuable and important technique in cytogenetics, as a complement to traditional banding analysis. This thesis focus on the characterization of chromosomal rearrangements in two hematological neoplasias, myelodysplastic syndrome (MDS) and non-Hodgkin lymphoma (NHL) using FISH. LÄS MER