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  • 1
    Electronic Resource
    Electronic Resource
    Clinical consequences of molecular diagnosis in families with mismatch repair gene germline mutations (2000)
    Springer
    International journal of colorectal disease 15 (2000), S. 255-263 
    Details
    ISSN: 1432-1262
    Keywords: Hereditary nonpolyposis colorectal cancer Germline mutations Surveillance program
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract. Hereditary nonpolyposis colorectal cancer (HNPCC), clinically defined by the Amsterdam criteria, is associated with mismatch repair gene germline mutations. This study was performed to evaluate the efficiency of combined clinical and molecular diagnostics in identifying carriers of a mutated gene in families meeting criteria of the Bethesda guidelines and to examine the influence of molecular diagnosis on clinical decision-making in carriers and noncarriers. Seventy-two patients meeting criteria of the Bethesda guidelines were tested for microsatellite instabilities (MSI). MSI-H tumors were found in 38 (52.8%) index patients. Complete sequencing of hMLH1 and hMSH2 in 38 MSI-H patients and of hMSH6 in one of these patients revealed 15 pathogenic germline mutations, including three novel mutations, and three novel unclassified germline variants. Twelve of the 15 pathogenic mutations were found in patients fulfilling the Amsterdam I/II criteria. Surgical and genetic counseling was offered to the affected families; as a result of molecular diagnosis in the 15 families, 26 index patients and affected carriers and 8 asymptomatic carriers of a mutated mismatch repair gene were included in the surveillance program, and 26 noncarriers were excluded from this program. Although germline mutations are detected in only 20.8% of patients fulfilling criteria of the Bethesda guidelines, family history and MSI-H tumor classification are both strong indicators for germline mutations in hMSH2, hMLH1, and hMSH6 genes, resulting in a 51.9% mutation detection rate. Identification of individual mutation status allows clear-cut decisions on whether or not inclusion in surveillance programs is indicated.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s003840000261
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    A New Route to Iminoarsanes (2000)
    Weinheim : Wiley-Blackwell
    Berichte der deutschen chemischen Gesellschaft 2000 (2000), S. 165-168 
    Details
    ISSN: 1434-1948
    Keywords: Arsenic ; Imino compound ; Hydrazinoiminoarsane ; Aminoiminoarsane ; Chemistry ; General Chemistry
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Chemistry and Pharmacology
    Notes: Dehydrohalogenation of (2,4,6-tri-tert-butylphenylamino)chloro[tris(trimethylsilyl)hydrazino]arsane (3) or [tert-butyl(trimethylsilyl)amino]chloro(2,4,6-tri-tert-butylphenylamino)arsane (4) with DBU yields novel stable compounds containing an As-N double bond, (2,4,6-tri-tert-butylphenylimino)[tris(trimethylsilylhydrazino]arsane) (5) and [tert-butyl(trimethylsilyl)amino](2,4,6-tri-tert-butylphenylimino)arsane (6). The structure of 5 was confirmed by an X-ray structure determination.
    Additional Material: 1 Ill.
    Type of Medium: Electronic Resource
    Library Location Call Number Volume/Issue/Year Availability
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    Paper (German National Licenses)
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