Search for dissertations about: "X-chromosome"

Showing result 6 - 10 of 57 swedish dissertations containing the word X-chromosome.

  2. 6. Molecular mechanisms in cervical carcinogenesis : Studies of clonality, somatic genetic alterations and human papillomavirus variants in cervical pre-invasive and invasive cancer

    Author : Zhongmin Guo; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; cervical cancer; CIN; clonality; X-chromosome inactivation; LOH; HPV; chromosome 3p; chromosome 6; Genetik; Clinical genetics; Klinisk genetik; Pathology; patologi;

    Abstract : Cervical cancer derives from a series of pre-invasive cervical neoplastic lesions termed CIN I-III (Cervical Intraepithelial Neoplasia) via typical multiple-step processes. In contrast to premalignant disorders in other organs, different degrees of CIN possess a distinct biological behaviour where a proportion spontaneously regress or persist, whereas some progress to invasive cancer. READ MORE

  4. 7. Mental retardation in children : an epidemiological and etiological study of mentally retarded children born 1959-1970 in a northern Swedish county

    Author : Hans K:son Blomquist; Umeå universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Mental retardation; Incidence; Prevalence; Etiology; CNS handicap; Fragile site X chromosome; Maternal phenylketonuria; Late introduced dietary treatment; Intrauterine irradiation;

    Abstract : In an unselected series of mentally retarded children in the county of Västerbotten, Sweden, the annual incidence of children with severe mental retardation (SMR) (IQ < 50) and alive at the age of one year decreased from 5.3 per 1,000 in 1959 - 1963 to 3.1 per 1,000 in 1967 -1970. READ MORE

  5. 8. Genetic studies of neurological disorders : Rett syndrome and HD-like familial prion disease

    Author : Fengqing Xiang; Karolinska Institutet; Karolinska Institutet; []
    Keywords : Huntington s disease HD ; MECP2 gene; mutation; linkage analysis; prion disease; prion protein PrP ; Rett syndrome RTT ; X-chromosome inactivation XCI .;

    Abstract : Rett syndrome (RTT) is a severe childhood neurodevelopmental disorder, which almost exclusively affects females with a prevalence of 1 in 10 000-15 000, >99% of the cases are sporadic. It is commonly thought of as an X-linked dominant disorder lethal to males. READ MORE

  6. 9. The genetic architecture of sexual dimorphism

    Author : Robert Griffin; Urban Friberg; Alexei Maklakov; Jon Ågren; Russell Bonduriansky; Uppsala universitet; []
    Keywords : NATURVETENSKAP; NATURAL SCIENCES; Drosophila melanogaster; evolution; intralocus sexual conflict; sex chromosomes; sexually antagonistic selection; sexual dimorphism;

    Abstract : Phenotypic differences between the sexes evolve largely because selection favours a different complement of traits in either sex. Theory suggests that, despite its frequency, sexual dimorphism should be generally constrained from evolving because the sexes share much of their genome. READ MORE

  7. 10. Sexually Dimorphic Gene Expression in the Mammalian Brain

    Author : Björn Reinius; Elena Jazin; Klas Kullander; Arthur Arnold; Uppsala universitet; []
    Keywords : NATURVETENSKAP; NATURAL SCIENCES; Developmental biology; Utvecklingsbiologi;

    Abstract : In recent times, major advances have been made towards understanding sexual dimorphism in the brain on a molecular basis. This thesis summarises my modest contributions to these endeavours. Sexual dimorphisms are manifested throughout the spectrum of biological complexity, and can be studied by numerous approaches. READ MORE