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  • 1
    Electronic Resource
    Electronic Resource
    Refined localization of the gene for Clouston syndrome (hidrotic ectodermal dysplasia) in a large French family (2000)
    Oxford, UK : Blackwell Science Ltd
    British journal of dermatology 142 (2000), S. 0 
    Details
    ISSN: 1365-2133
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Hidrotic ectodermal dysplasia (HED) or Clouston syndrome is a rare autosomal dominant disorder characterized by nail dystrophy, alopecia and palmoplantar hyperkeratosis, which maps to chromosome 13q11–q12.1. We confirmed linkage of HED to this region in a large French family. To define the critical region for HED, detailed haplotypes were constructed with new pericentromeric polymorphic markers. A recombination event in the family indicates that the HED locus maps centromeric to D13S1832. Our French family does not share a common haplotype with other pedigrees previously published (particularly French-Canadian), indicating that the mutations in these families are likely to be of different origin.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1046/j.1365-2133.2000.03292.x
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Towards a new classification of ectodermal dysplasias (2003)
    Oxford, UK : Blackwell Science Ltd
    Clinical and experimental dermatology 28 (2003), S. 0 
    Details
    ISSN: 1365-2230
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Summary Ectodermal dysplasias (EDs) constitute a large and complex group of diseases characterized by various defects in hair, nails, teeth and sweat glands. Of the 170 EDs described so far, fewer than 30 have been explained at the molecular level with identification of the causative gene. This review proposes a new classification of EDs based on the function of the protein encoded by the mutated gene. The EDs are reviewed in light of the recent molecular and biochemical findings and an attempt is made to classify ED causative genes into four major functional subgroups: cell–cell communication and signalling; adhesion; transcription regulation; and development.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1046/j.1365-2230.2003.01319.x
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    Paper (German National Licenses)
    Fulltext
  • 3
    Electronic Resource
    Electronic Resource
    Mutation of the repeat number of the HPRTB locus and structure of rare intermediate alleles (1999)
    Springer
    International journal of legal medicine 112 (1999), S. 192-194 
    Details
    ISSN: 1437-1596
    Keywords: Key words Short tandem repeat (STR) ; Mutation ; DNA analysis ; Alleles ; Paternity testing
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine , Law
    Notes: Abstract During routine paternity testing a mutation of a paternal allele at the HPRTB locus was observed. The opportunity was taken to analyse this mutation at a molecular level. The repeat sequence is flanked by an imperfect repeat sequence and this region could be involved in the mutation mechanism. For this reason, we also examined the structure of “intermediate” alleles. Sequencing confirmed the insertion of a perfect repeat motif and revealed a deletion of a dinucleotide some 50 nucleotides downstream from the repeat sequence for the intermediate alleles. It is likely that these intermediate alleles are rare biallelic deletion polymorphisms and are probably not involved in the mutation or variation mechanism of this locus.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004140050231
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    Paper (German National Licenses)
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