Search for dissertations about: "chromosome rearrangements"

Showing result 11 - 15 of 54 swedish dissertations containing the words chromosome rearrangements.

  2. 11. Studies of gene fusions and copy number alterations in salivary and adnexal neoplasms

    Author : Marta Persson; Göteborgs universitet; []
    Keywords : cancer genetics; fusion oncogenes; chromosome translocation; MYB; NFIB; CRTC1; MAML2; salivary gland; breast; adenoid cystic carcinoma; mucoepidermoid carcinoma; hidradenoma;

    Abstract : Cancer is a genetic disease caused by the accumulation of genetic changes such as mutations and chromosomal rearrangements. An increasing number of genetic studies of both hematological and solid neoplasms have shown that recurrent chromosome translocations often result in fusion oncogenes. READ MORE

  4. 12. The evolution of flat periwinkles Littorina fabalis and L. obtusata emhasizing mitochondrial introgression and restricted recombination

    Author : Petri Kemppainen; Göteborgs universitet; []
    Keywords : NATURVETENSKAP; NATURAL SCIENCES; Speciation; Local adaptations; Ecotypes; Mitochondrial DNA; Introgression; Restricted recombination; Positive selection; Inversions; Chromosomal rearrangements;

    Abstract : The evolution of species takes in general very long time and different mechanisms are likely to operate during the various stages of this process. Accordingly speciation should be studied at different levels of species divergence. READ MORE

  5. 13. Cytogenetic and molecular analysis of chromosomal rearrangements associated with neuropsychiatric disorders

    Author : Dmitry Tentler; Niels Tommerup; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Mental retardation; autism; Asperger syndrome; chromosomal rearrangement; Genetik; Clinical genetics; Klinisk genetik; Clinical Genetics; klinisk genetik;

    Abstract : 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. READ MORE

  6. 14. Complex genomic rearrangements in rare brain disorders : genetic architecture and molecular consequences

    Author : Jakob Schuy; Karolinska Institutet; Karolinska Institutet; []
    Keywords : ;

    Abstract : 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. READ MORE

  7. 15. The Human Y chromosome and its role in the developing male nervous system

    Author : Martin M. Johansson; David Skuse; Uppsala universitet; []
    Keywords : NATURVETENSKAP; NATURAL SCIENCES; MSY; sex differences; CNV; SNP; palindrome; palindromes; gr gr duplication; gr gr deletion; b2 b3 deletion; b2 b3 duplication; blue-grey duplication; blue-grey like duplication; IR2; U3; STS; AZFa; AZFb; AZFc; Olivary nucleus; Medulla oblongata; spinal cord; white matter; Affymetrix 6.0; embryo; embryonal; haplogroup; haplogroups; R1a; R1b; R-M207; E-M96; I-M170; J-M304; G-M201; Ashkenazi; Bolivian; Chinese; SNP array; padlock probing; AMY-tree; Biologi med inriktning mot zoologisk utvecklingsbiologi; Biology with specialization in Animal Development;

    Abstract : Recent research demonstrated that besides a role in sex determination and male fertility, the Y chromosome is involved in additional functions including prostate cancer, sex-specific effects on the brain and behaviour, graft-versus-host disease, nociception, aggression and autoimmune diseases. The results presented in this thesis include an analysis of sex-biased genes encoded on the X and Y chromosomes of rodents. READ MORE