Sökning: "chromosome rearrangements"

Visar resultat 1 - 5 av 54 avhandlingar innehållade orden chromosome rearrangements.

1. 1. Characterization of chromosome abnormalities

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

   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

3. 2. 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. 3. Genetic investigations of four neurological disorders : From phenotype to mutation

   Författare :Anna Sillén; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Pediatrics; genetic disease; chromosome; microsatellite; linkage analysis; mutation; Pediatrik; Paediatric medicine; 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

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

   Författare :Malin A Nilsson; Avdelningen för klinisk genetik; []
   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

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

   Författare :Yolanda Narain; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Genetik; Clinical genetics; Klinisk genetik; Genetics; genetik; NATURAL SCIENCES;

   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