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Träfflista för sökning "WFRF:(Kirsten M.) srt2:(2000-2004)"

Sökning: WFRF:(Kirsten M.) > (2000-2004)

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1.
  • Kalscheuer, Vera M, et al. (författare)
  • Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation
  • 2003
  • Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 35:4, s. 313-315
  • Tidskriftsartikel (refereegranskat)abstract
    • We found mutations in the gene PQBP1 in 5 of 29 families with nonsyndromic (MRX) and syndromic (MRXS) forms of X-linked mental retardation (XLMR). Clinical features in affected males include mental retardation, microcephaly, short stature, spastic paraplegia and midline defects. PQBP1 has previously been implicated in the pathogenesis of polyglutamine expansion diseases. Our findings link this gene to XLMR and shed more light on the pathogenesis of this common disorder.
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2.
  • Welinder-Olsson, Christina, 1959, et al. (författare)
  • EHEC outbreak among staff at a children's hospital--use of PCR for verocytotoxin detection and PFGE for epidemiological investigation.
  • 2004
  • Ingår i: Epidemiology and infection. - 0950-2688. ; 132:1, s. 43-9
  • Tidskriftsartikel (refereegranskat)abstract
    • This is the first report of a major foodborne outbreak of enterohaemorrhagic Escherichia coli (EHEC) in Sweden. It occurred among the nursing staff at a children's hospital with approximately 1600 employees. Contaminated lettuce was the most likely source of infection. Nine persons were culture-positive for Escherichia coli (E. coli) O157 and verocytotoxin-positive by PCR and a further two were verocytotoxin-positive by PCR only. All 11 EHEC-positive individuals had attended a party for approximately 250 staff members, which was held at the hospital. In a questionnaire 37 persons stated that they had symptoms consistent with EHEC infection during the weeks after the party. There was no evidence of secondary transmission from staff to patients. The value of PCR as a sensitive and fast method for diagnosis is discussed in this paper. Pulsed-field gel electrophoresis (PFGE) was used to ascertain that staff members were infected by the same clone, and that two patients with E. coli O157 infection were not.
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