Sökning: "chromosome rearrangements"

Visar resultat 1 - 5 av 46 avhandlingar innehållade orden chromosome rearrangements.

  1. 1. Characterization of chromosome abnormalities

    Detta är en avhandling från Stockholm : Karolinska Institutet, Department of Molecular Medicine and Surgery

    Författare :Anna Lindstrand; Karolinska Institutet.; Karolinska Institutet.; [2010]
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES;

    Sammanfattning : Inborn chromosome abnormalities are a frequent cause of mental retardation and birth defects. Apart from aberrations that are visible in the microscope, a number of submicroscopic alterations have recently been discovered, and all of these chromosome changes are in fact the result of DNA alterations at the molecular level. LÄS MER

  2. 2. Chromosomal Instability and Genomic Amplification in Bone and Soft Tissue Tumours

    Detta är en avhandling från Department of Clinical Genetics, Lund University

    Författare :David Gisselsson Nord; Lunds universitet.; Lund University.; [2000]
    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 : Popular Abstract in Swedish De flesta cancerformer uppvisar förvärvade kromosomavvikelser. En del enklare avvikelser har visat sig förekomma enbart i en viss tumörform och kan därför användas som diagnostiska markörer. LÄS MER

  3. 3. Genetic investigations of four neurological disorders : From phenotype to mutation

    Detta är en avhandling från Uppsala : Acta Universitatis Upsaliensis

    Författare :Anna Sillén; Uppsala universitet.; [1997]
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Pediatrics; genetic disease; chromosome; microsatellite; linkage analysis; mutation; Pediatrik; MEDICINE Dermatology and venerology; clinical genetics; internal medicine Internal medicine Paediatric medicine; MEDICIN Dermatologi och venerologi; klinisk genetik; invärtesmedicin Invärtesmedicin Pediatrisk medicin; klinisk genetik; Clinical Genetics;

    Sammanfattning : More than 5000, more or less rare, genetic diseases are known in man. A genetic disease is in most casesinherited from one generation to the next, and is caused by a change in the genetic code, a mutation. LÄS MER

  4. 4. Molecular cytogenetic characterization of chromosome aberrations in soft tissue and bone tumors

    Detta är en avhandling från Divison of Clinical Genetics, Lund University

    Författare :Malin A Nilsson; Lunds universitet.; Lund University.; [2005]
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetik; cytogenetik; cytogenetics; Genetics; breakpoint mapping; FISH; structural rearrangements;

    Sammanfattning : Bone and soft tissue tumors (BSTT) belong to a diverse group of solid tumors of mesenchymal origin, with a large number of histological types affecting individuals of all ages. The general aim of the present thesis (Articles I-V) was to investigate in detail the genetic aberrations in selected subtypes of benign and malignant BSTT. LÄS MER

  5. 5. Chromosome rearrangements do not prevent gene flow in the common shrew, Sorex araneus : Analysis of two chromosomal hybrid zones in Sweden

    Detta är en avhandling från Uppsala : Acta Universitatis Upsaliensis

    Författare :Yolanda Narain; Uppsala universitet.; [1998]
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Genetik; MEDICINE Dermatology and venerology; clinical genetics; internal medicine Clinical genetics; MEDICIN Dermatologi och venerologi; klinisk genetik; invärtesmedicin Klinisk genetik; Genetics; genetik;

    Sammanfattning : Two chromosomal hybrid zones of the common shrew, Sorex araneus, have been investigated: the Hällefors-Uppsala hybrid zone in central Sweden and the Abisko-Sidensjö hybrid zone in northern Sweden. The Hällefors (Hä) and Uppsala (Up) chromosome races consisted of biarmed autosomes only (2nA=18), and differed in the Robertsonian fusions of two arms, ko, pq, and kp, oq, respectively. LÄS MER