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  • 1
    Electronic Resource
    Electronic Resource
    Recombination and the fragile X (1990)
    Springer
    Human genetics 〈Berlin〉 85 (1990), S. 141-142 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00276345
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Frequent deletions at Xq28 indicate genetic heterogeneity in Hunter syndrome (1991)
    Springer
    Human genetics 〈Berlin〉 86 (1991), S. 505-508 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Hunter syndrome is a human X-linked disorder caused by deficiency of the lysosomal exohydrolase iduronate-2-sulphatase (IDS). The consequent accumulation of the mucopolysaccharides dermatan sulphate and heparan sulphate, in the brain and other tissues, often results in death before adulthood. There is, however, a broad spectrum of severity that has been attributed to different mutations of the Hunter syndrome gene. We have used an IDS cDNA clone to localise the IDS gene to Xq28, distal to the fragile X mutation (FRAXA). One-third of Hunter syndrome patients had various deletions or rearrangements of their IDS gene, proving that different mutations are common in this condition. Deletions of the IDS gene can include a conserved locus that is tightly linked to FRAXA, suggesting that deletion of nearby genes may contribute to the variable clinical severity noted in Hunter syndrome. The cDNA clone was also shown to span the X chromosome breakpoint in a female Hunter syndrome patient with an X;autosome translocation.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00194643
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    Paper (German National Licenses)
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  • 3
    Electronic Resource
    Electronic Resource
    Mutation detection in FGFR2 craniosynostosis syndromes (1997)
    Springer
    Human genetics 〈Berlin〉 99 (1997), S. 251-255 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Five autosomal dominant craniosynostosis syndromes (Apert, Crouzon, Pfeiffer, Jackson-Weiss and Crouzon syndrome with acanthosis nigricans) result from mutations in FGFR genes. Fourteen unrelated patients with FGFR2-related craniosynostosis syndromes were screened for mutations in exons IIIa and IIIc of FGFR2. Eight of the nine mutations found have been reported, but one patient with Pfeiffer syndrome was found to have a novel G-to-C splice site mutation at –1 relative to the start of exon IIIc. Of those mutations previously reported, the mutation C1205G was unusual in that it was found in two related patients, one with clinical features of Pfeiffer syndrome and the other having mild Crouzon syndrome. This degree of phenotypic variability shows that the clinical features associated with a specific mutation do not necessarily breed true.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004390050348
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    Paper (German National Licenses)
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  • 4
    Electronic Resource
    Electronic Resource
    Live universes (1997)
    [s.l.] : Nature Publishing Group
    Nature 385 (1997), S. 109-109 
    Details
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] SIR - Maynard Smith and Szathmary say that the simplest interpretation of the strong anthropic principle is that the Universe was created purposefully. They make the intriguing claim that "this interpretation lies outside science" and turn their attention to more complex and (one presumes) more ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/385109c0
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  • 5
    Electronic Resource
    Electronic Resource
    Microsatellite instability markers in breast cancer: A review and study showing MSI was not detected at ‘BAT 25’ and ‘BAT 26’ microsatellite markers in early-onset breast cancer (2000)
    Springer
    Breast cancer research and treatment 60 (2000), S. 135-142 
    Details
    ISSN: 1573-7217
    Keywords: breast cancer ; microsatellite instability ; microsatellite markers ; review ; survey
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Microsatellite markers may provide evidence of faulty DNA mismatch repair (MMR) via the detection of microsatellite instability (MSI). The choice of microsatellite markers may impact on the MSI detection rate. In hereditary non-polyposis colon cancer (HNPCC), several informative microsatellite markers have been recommended. Two of these, BAT 25 and BAT 26, are quasi-homozygous, enabling analysis of tumour DNA in the absence of paired normal DNA. Sixty-six breast cancer patients under 45 years of age at diagnosis were examined for MSI at BAT 25 and BAT 26. Tumour DNA was extracted from paraffin-embedded tissue. No MSI was detected at the BAT 25 or BAT 26 loci. An additional five microsatellite markers, known to be informative for HNPCC, were examined for MSI in these patients. Apparently-normal profiles were achieved. A tabulated survey of 306 microsatellite markers used to detect MSI in breast cancer revealed that only 35.5% of markers detected MSI at an average rate of 2.9%. The MSI detection rate at the specific HNPCC markers varied from 0% to 10% in breast cancer, with D175250 and TP53 being the HNPCC markers most suitable for analysis of breast cancer. The size of the microsatellite marker's repeat unit did not impact on MSI detection rates. Compiled data from large studies (n〉100) revealed D115988 as the marker with the highest MSI detection rate. Genomic instability pathways of carcinogenesis, characterised by MMR defects and MSI, appear to play a role in the genesis of some breast cancer types.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1023/A:1006315315060
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    Paper (German National Licenses)
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