Sökning: "rearrangements"
Visar resultat 16 - 20 av 237 avhandlingar innehållade ordet rearrangements.
16. Genomic rearrangements at the cause of three genetic disorders in man
Sammanfattning : Genomic rearrangements are a common cause of genetic disorders in man. This thesis describes the analysis of genomic rearrangements observed in patients with the Hunter syndrome (MPS II), incontinentia pigmenti (IP) and the Blepharophimosis, ptosis and epicanthus inversus syndrome (BPES). MPS II is an X-linked recessive lysosomal storage disorder. LÄS MER
17. Cytogenetic and molecular analysis of chromosomal rearrangements associated with neuropsychiatric disorders
Sammanfattning : Genetic factors are important in the aetiology of neuropsychiatric disorders. Analysis of chromosomal abnormalities associated with these disorders may provide locus specific information for the identification of candidate genes and, subsequently, for our understanding of brain development and functioning. LÄS MER
18. Complex genomic rearrangements in rare brain disorders : genetic architecture and molecular consequences
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
19. Analysis of chromosomal rearrangements and gene copy number changes in breast cancer cells
Sammanfattning : Genome changes in terms of numerical chromosomal aberrations and structural rearrangements, including deletions, amplifications and translocations, gradually accumulate in the genome during tumor development. These genomic changes are likely to play an important role in the process of tumor progression. LÄS MER
20. Chromosome rearrangements do not prevent gene flow in the common shrew, Sorex araneus : Analysis of two chromosomal hybrid zones in Sweden
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