Library

X
feed icon rss

Your email was sent successfully. Check your inbox.

An error occurred while sending the email. Please try again.

Proceed reservation?

Export
  • 1
    Electronic Resource
    Electronic Resource
    Sacral dysgenesis associated with terminal deletion of chromosome 7q: a report of two families (1999)
    Springer
    European journal of pediatrics 158 (1999), S. 902-905 
    Details
    ISSN: 1432-1076
    Keywords: Key words Sacral dysgenesis ; Anal stenosis ; Currarino syndrome ; Chromosome
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Most cases of sacral dysgenesis are considered to be sporadic events. We present two families in whom the presence of associated clinical features prompted specific investigation of chromosome 7, leading to the identification of an underlying chromosome 7q deletion causing sacral dysgenesis. All affected individuals had microcephaly and developmental delay. Detailed cytogenetic studies confirmed that all three affected individuals had a deletion of chromosome 7q associated with their sacral dysgenesis, developmental delay and related problems. The three affected patients were studied clinically, radiologically and cytogenetically. Eleven unaffected individuals from the two families were also investigated by genetic studies, specifically evaluating chromosome 7. Conclusion It is important that detailed family history, evaluation of associated malformations and the overall clinical picture be considered in identifying the underlying diagnosis in cases of anal stenosis/sacral agenesis. The cases we present demonstrate the value of detailed chromosome studies in such situations.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004310051238
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 2
    Electronic Resource
    Electronic Resource
    Asteroseismology of degenerate stars (1995)
    Springer
    Astrophysics and space science 230 (1995), S. 63-74 
    Details
    ISSN: 1572-946X
    Keywords: White Dwarfs ; Pulsating Stars ; Nonradial Oscillations
    Source: Springer Online Journal Archives 1860-2000
    Topics: Physics
    Notes: Abstract An overview of the observational and theoretical study of white dwarf pulsators is given. Particular attention is drawn to the contributions of South African-based workers.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00658168
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
Close ⊗
This website uses cookies and the analysis tool Matomo. More information can be found here...