Search for dissertations about: "chromosome 8"

Showing result 1 - 5 of 241 swedish dissertations containing the words chromosome 8.

  1. 1. Development and Application of Microarray-Based Comparative Genomic Hybridization : Analysis of Neurofibromatosis Type-2, Schwannomatosis and Related Tumors

    Author : Patrick Buckley; Jan Dumanski; Olivier Delattre; Uppsala universitet; []
    Keywords : MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Genomic microarray; Array-CGH; DNA copy number variation; Neurofibromatosis type-2; Schwannomatosis; Schwannoma; Meningioma; NF2; Chromosome 22; Genetik; Clinical genetics; Klinisk genetik;

    Abstract : Neurofibromatosis type-2 (NF2) is an autosomal dominant disorder with the clinical hallmark of bilateral eighth cranial nerve schwannomas. However, the diagnostic criterion is complicated by the presence of a variable phenotype, with the severe form presenting with additional tumors such as peripheral schwannoma, meningioma and ependymoma. READ MORE

  2. 2. Evolutionary Studies of the Mammalian Y Chromosome

    Author : Linda Hellborg; Hans Ellegren; Terry Burke; Uppsala universitet; []
    Keywords : MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Y chromosome; field vole; cattle; selection; primer design; Genetik; Clinical genetics; Klinisk genetik;

    Abstract : Sex chromosomes are useful in elucidating the evolutionary factors affecting diversity and divergence. In particular, Y chromosome analyses may complement studies using mitochondrial DNA for inferring sex-specific population genetic processes. READ MORE

  3. 3. Evolution of sex chromosomes in Sylvioidea songbirds

    Author : Hanna Sigeman; MEMEG; []
    Keywords : NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; Sex chromosome; neo-sex chromosome; Birds; vertebrates; Genomics; Bioinformatics;

    Abstract : Sex chromosomes were discovered more than 100 years ago. They have been studied intensely from a theoretical perspective since then, giving rise to a large body of testable predictions about their evolution from autosomes. READ MORE

  4. 4. Avian Genome Evolution - Gene Expression, Gene Divergence and Sexual Dimorphism

    Author : Sara Naurin; Biologiska institutionen; []
    Keywords : NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; sex chromosome; avian genome evolution; gene expression; sexual dimorphism; Z chromosome;

    Abstract : This study has focused on: (i) differences in how males and females use the genes in the genome, (ii) how sex chromosomes evolve and (iii) how the evolutionary rate of genes are affected by the chromosome on which they are located on and the gene expression level they experience. A large-scale microarray was developed for the zebra finch, Taeniopygia guttata and techniques were developed so that this microarray could also be used for wild passerine birds. READ MORE

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

    Author : Anna Sillén; Uppsala universitet; []
    Keywords : MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Pediatrics; genetic disease; chromosome; microsatellite; linkage analysis; mutation; Pediatrik; Paediatric medicine; Pediatrisk medicin; klinisk genetik; Clinical Genetics;

    Abstract : 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. READ MORE