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  • Artikel: DFG Deutsche Nationallizenzen  (4)
  • 2005-2009  (3)
  • 1915-1919  (1)
Datenquelle
  • Artikel: DFG Deutsche Nationallizenzen  (4)
Materialart
Erscheinungszeitraum
Jahr
  • 1
    Digitale Medien
    Digitale Medien
    Tuberculous cold abscess resembling a lymphatic malformation (2005)
    Oxford, UK : Blackwell Science Ltd
    Clinical and experimental dermatology 30 (2005), S. 0 
    Details
    ISSN: 1365-2230
    Quelle: Blackwell Publishing Journal Backfiles 1879-2005
    Thema: Medizin
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1111/j.1365-2230.2005.01883.x
    Bibliothek Standort Signatur Band/Heft/Jahr Verfügbarkeit
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    Artikel (Nationallizenzen)
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  • 2
    Digitale Medien
    Digitale Medien
    Complete paternal uniparental isodisomy of chromosome 1 resulting in Herlitz junctional epidermolysis bullosa (2005)
    Oxford, UK : Blackwell Science Ltd
    Clinical and experimental dermatology 30 (2005), S. 0 
    Details
    ISSN: 1365-2230
    Quelle: Blackwell Publishing Journal Backfiles 1879-2005
    Thema: Medizin
    Notizen: Herlitz junctional epidermolysis bullosa (JEB) is an autosomal recessive mechanobullous disorder that results from loss-of-function mutations in the genes encoding the basement membrane component, laminin 5. Typically, there are frameshift, splice site or nonsense mutations on both alleles of either the LAMA3, LAMB3 or LAMC2 genes, with affected individuals inheriting one mutated allele from each parent. In this report, we describe a patient with Herlitz JEB in whom DNA analysis revealed homozygosity for the recurrent nonsense mutation R635X in LAMB3, located on chromosome 1q32.2. However, screening of parental DNA showed that although the patient's father was a heterozygous carrier of this mutation, the mother's DNA showed only wild-type sequence. Subsequent genotype analysis using 13 microsatellite markers spanning chromosome 1 revealed that the affected child was homozygous for the entire series of markers tested and that all of the alleles originated from the father. These results indicate that the Herlitz JEB phenotype in this patient is due to complete paternal isodisomy of chromosome 1 and reduction to homozygosity of the mutant LAMB3 gene locus. This is the fourth case of uniparental disomy to be described in Herlitz JEB, but it represents the first example of complete paternal isodisomy for chromosome 1 with a pathogenic mutation in the LAMB3 gene. These findings have important implications for mutation screening in JEB and for genetic counselling.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1111/j.1365-2230.2004.01660.x
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  • 3
    Digitale Medien
    Digitale Medien
    Seasonal occurrence of impetigo: a retrospective 8-year review (1996–2003) (2005)
    Oxford, UK : Blackwell Science Ltd
    Clinical and experimental dermatology 30 (2005), S. 0 
    Details
    ISSN: 1365-2230
    Quelle: Blackwell Publishing Journal Backfiles 1879-2005
    Thema: Medizin
    Notizen: Impetigo, a common skin infection, has shown seasonal variation in African, Australian and Indian studies. We investigated seasonal variation of impetigo in a UK paediatric population. A total of 1552 children with impetigo were seen in the Accident and Emergency (A&E) department between 1996 and 2003. The number of impetigo cases was always higher in late summer than in winter, and furthermore, increased year on year. These changes could not be accounted for by variation in total patient numbers seen in A&E, and suggest a correlation between impetigo frequency and climatic temperature. Possible reasons for these findings include exposed skin due to loose clothing in the summer leading to more skin-to-skin contact and minor trauma.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1111/j.1365-2230.2005.01847.x
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  • 4
    Digitale Medien
    Digitale Medien
    The Pollination of Toadflax (1916)
    [s.l.] : Nature Publishing Group
    Nature 98 (1916), S. 209-210 
    Details
    ISSN: 1476-4687
    Quelle: Nature Archives 1869 - 2009
    Thema: Biologie , Chemie und Pharmazie , Medizin , Allgemeine Naturwissenschaft , Physik
    Notizen: [Auszug] Linaria spuria, Miller, is a not uncommon weed of cornfields on calcareous soils in the Midlands and south of England, in western, central, and southern Europe, in, northern Africa, and in western Asia, and it occurs adventitiously in North America. I have never observed insects pollinating the ...
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1038/098209e0
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