Search for dissertations about: "Incontinentia pigmenti IP"

Found 2 swedish dissertations containing the words Incontinentia pigmenti IP.

  2. 1. Genomic rearrangements at the cause of three genetic disorders in man

    Author : Kristina Lagerstedt; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Mucopolysaccharidosis type II MPS II ; The Hunter syndrome; Incontinentia pigmenti IP ; Blepharophimosis; ptosis; epicanthus inversus syndrome BPES ; mutational analysis; nonhomologous end joining NHEJ ; homologous recombination HR ; Genetik; Clinical genetics; Klinisk genetik; Medical Genetics; medicinsk genetik;

    Abstract : 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. READ MORE

  4. 2. Eosinophilic dermatosis implications of skin-commensal bacteria and antimicrobial peptides and proteins at birth

    Author : Annika Nelson; Karolinska Institutet; Karolinska Institutet; []
    Keywords : ;

    Abstract : At birth, the newborn infant is transferred from a sterile life in utero to an earthly life in coexistence with microbes. This transition includes the potential danger of a microbial invasion through the epithelial linings, and the infant must find a balance between elimination of harmful pathogens and cooperation with microorganisms that are of benefit. READ MORE