Search Results - (Author, Cooperation:H. H. Ropers)

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  1. 1
    Staff View
    Publication Date:
    2011-09-23
    Publisher:
    Nature Publishing Group (NPG)
    Print ISSN:
    0028-0836
    Electronic ISSN:
    1476-4687
    Topics:
    Biology
    Chemistry and Pharmacology
    Medicine
    Natural Sciences in General
    Physics
    Keywords:
    Brain/metabolism/physiology ; Cell Cycle ; Cognition Disorders/*genetics ; Consanguinity ; DNA Mutational Analysis ; Exons/genetics ; Gene Regulatory Networks ; Genes, Essential/genetics ; Genes, Recessive/*genetics ; *High-Throughput Nucleotide Sequencing ; Homozygote ; Humans ; Intellectual Disability/*genetics ; Metabolic Networks and Pathways ; Mutation/genetics ; Organ Specificity ; Synapses/metabolism
    Published by:
    http://www.nature.com/

    Latest Papers from Table of Contents or Articles in Press
  2. 2
    Staff View
    ISSN:
    0888-7543
    Source:
    Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics:
    Biology
    Medicine
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1016/0888-7543(92)90279-2

    Articles: DFG German National Licenses
  3. 3
    Staff View
    ISSN:
    0888-7543
    Source:
    Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics:
    Biology
    Medicine
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1016/0888-7543(88)90147-4

    Articles: DFG German National Licenses
  4. 4
    Staff View
    ISSN:
    0888-7543
    Source:
    Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics:
    Biology
    Medicine
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1016/0888-7543(89)90312-1

    Articles: DFG German National Licenses
  5. 5
    Staff View
    ISSN:
    0888-7543
    Source:
    Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics:
    Biology
    Medicine
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1016/0888-7543(89)90281-4

    Articles: DFG German National Licenses
  6. 6
    Staff View
    ISSN:
    0888-7543
    Source:
    Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics:
    Biology
    Medicine
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1016/0888-7543(91)90250-I

    Articles: DFG German National Licenses
  7. 7
    Staff View
    ISSN:
    0305-0491
    Keywords:
    Apodemus flavicollis ; Apodemus sylvaticus ; C-bands ; LDH-polymorphism ; breeding ; heterochromatin ; hybrids ; species isolation
    Source:
    Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics:
    Biology
    Chemistry and Pharmacology
    Type of Medium:
    Electronic Resource
    URL:
    http://linkinghub.elsevier.com/retrieve/pii/0305-0491(73)90268-X

    Articles: DFG German National Licenses
  8. 8
    Traupe, H. ; Happle, R. ; Ropers, H. H. ; Müller, C. R.
    Springer
    Published 1981
    Staff View
    ISSN:
    1432-069X
    Keywords:
    X-linked recessive ichthyosis ; Autosomal dominant ichthyosis ; Heterozygote detection ; Steroid sulfatase ; X-chromosomal rezessive Ichthyosis ; autosomal dominante Ichthyosis ; Heterozygotentest ; Steroidsulfatase
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Medicine
    Description / Table of Contents:
    Zusammenfassung Eine Familie, in der die autosomal dominante Ichthyosis vulgaris und die X-chromosomal rezessive Ichthyosis in drei Generationen segregieren, wurde klinisch, histologisch und biochemisch untersucht. Die Bestimmung der Steroidsulfataseaktivität bestätigte die Diagnose einer X-chromosomal recessiven Ichthyosis und erlaubte die Erkennung heterozygoter Konduktorinnen.
    Notes:
    Summary Autosomal dominant ichthyosis vulgaris and X-linked recessive ichthyosis segregated in three generations of a family and was studied clinically, histologically, and biochemically. Determination of stereoid sulfatase activity ascertained the diagnosis of X-linked recessive ichthyosis and allowed detection of heterozygous carriers.
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1007/BF00412541

    Articles: DFG German National Licenses
  9. 9
    Goodfellow, P. ; Banting, G. ; Sheer, D. ; Ropers, H. H. ; Caine, A. ; Ferguson-Smith, M. A. ; Povey, S. ; Voss, R.

    [s.l.] : Nature Publishing Group
    Published 1983
    Staff View
    ISSN:
    1476-4687
    Source:
    Nature Archives 1869 - 2009
    Topics:
    Biology
    Chemistry and Pharmacology
    Medicine
    Natural Sciences in General
    Physics
    Notes:
    [Auszug] The monoclonal antibody 12E7 was raised by Levy et al. against human leukaemic T cells5. The antigenic determinant detected by this antibody is carried on a 30,000-molecular weight protein which, although present in larger amounts on thymocytes, is expressed on all human tissues so far tested with ...
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1038/302346a0

    Articles: DFG German National Licenses
  10. 10
    Ropers, H-H. ; Wiberg, U.

    [s.l.] : Nature Publishing Group
    Published 1982
    Staff View
    ISSN:
    1476-4687
    Source:
    Nature Archives 1869 - 2009
    Topics:
    Biology
    Chemistry and Pharmacology
    Medicine
    Natural Sciences in General
    Physics
    Notes:
    [Auszug] The remarkable stability of the mammalian X chromosome can be explained, in part, by the fact that males carrying X-autosomal translocations are mostly sterile. This is thought to result from a failure of inactivation of translocated X-chromosome segments during gametogenesis8. As a result, ...
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1038/296766a0

    Articles: DFG German National Licenses
  11. 11
    Staff View
    ISSN:
    1432-1203
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Biology
    Medicine
    Notes:
    Summary We report on three independent cases with a partial deficiency of placental steroid sulfatase (E.C.3.1.6.2). Upon routine pregnancy monitoring these patients were detected on the basis of low estriol excretion and failing induction of labor. In all three cases a male was delivered and subsequently the diagnosis of partial deficiency of placental steroid sulfatase was confirmed enzymatically in placenta homogenates. In one case, fibroblast cultures were established from skin explants of mother and son. In fibroblasts of the child, as in placental tissue, the activity of steroid sulfatase was only 34% of normal. Similar values were obtained for arylsulfatase C, though this enzyme is clearly separable from steroid sulfatase by electrophoresis. In cells of the mother, enzyme activities were unremarkable.
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1007/BF00291922

    Articles: DFG German National Licenses
  12. 12
    Staff View
    ISSN:
    1432-1203
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Biology
    Medicine
    Notes:
    Summary In a recent population study, we observed a striking deficit of G6PD heterozygotes among Southern African Negroid females. This finding was interpreted tentatively as evidence for a small number of hematopoetic stem cells in man. In a follow-up study we examined peripheral blood and cord blood in 547 mothers and in their newborn offspring. In mothers and sons, the frequencies of the G6PD alleles are apparently quite different. When the allele frequencies determined in sons are used for calculation of the expected phenotype frequencies in mothers and daughters, there is a large deficit of maternal G6PD AB phenotypes, and an equivalent surplus of G6PD homozygotes. However, no relevant heterozygote deficit is observed in newborn daughters. This discrepancy may be explained by the assumption that in peripheral blood of heterozygotes carrying the GdA- allele, G6PD-deficient cells progressively become eliminated during development from birth to adulthood. In other words, the large heterozygote deficit observed in adult females may be due to somatic selection rather than to a small pool of hematopoetic cells at the time of X differentiation.
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1007/BF00283641

    Articles: DFG German National Licenses
  13. 13
    Herfert, J. ; Wienker, T. F. ; Ropers, H. H.
    Springer
    Published 1980
    Staff View
    ISSN:
    1432-1203
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Biology
    Medicine
    Notes:
    Summary The specific, receptor-dependent 5α-dihydrotestosterone-binding capacity of cultured fibroblasts derived from genital and nongenital skin has been compared. With the methods employed, the detectable amount of the DHT receptor in nongenital skin-derived fibroblasts is variable, often approaching the limit of detectability. Therefore it is concluded that for differential diagnosis of disorders of sexual development, DHT-binding studies should be performed with genital skin fibroblasts only.
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1007/BF00273510

    Articles: DFG German National Licenses
  14. 14
    Staff View
    ISSN:
    1432-1203
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Biology
    Medicine
    Notes:
    Summary In cultured fibroblasts of patients with numerical and structural X chromosome aberrations the activity of steroid sulfatase (STS) is correlated with the number of functional STS gene copies. While normally, this X-linked gene is not inactivated, our data suggest that it may be subject to inactivation when carried on a structurally altered X-chromosome. Similar inactivation patterns have been reported earlier for the Xg locus which, like STS, is located on the distal protion of Xp.
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1007/BF00281683

    Articles: DFG German National Licenses
  15. 15
    Staff View
    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/BF00282842

    Articles: DFG German National Licenses
  16. 16
    Cremer, C. ; Gray, J. W. ; Ropers, H. H.
    Springer
    Published 1982
    Staff View
    ISSN:
    1432-1203
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Biology
    Medicine
    Notes:
    Summary A Chinese hamster x man hybrid cell line (CH-Y-VII) was established which retains a free human Y chromosome. Exponentially growing CH-Y-VII cells were arrested with colcemid; metaphase chromosomes were isolated and stained with 33258 Hoechst (HO) plus Chromomycin A3 (CA3), or with ethidium bromide (EB). The HO/CA3-stained chromosomes were measured in a dual beam flow cytometer, and bivariate HO/CA3 flow karyotypes and univariate HO and CA3 flow karyotypes were established. EB-stained chromosomes were analyzed in a modified Becton Dickinson FACS-Sorter. For all three stains used, the human Y chromosome forms a separate peak in univariate flow karyotypes; the optimum resolution was obtained for the HO distribution. In the bivariate HO/CA3 flow karyotype, the peak for the human Y chromosome is completely separated from the Chinese hamster chromosomes.
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1007/BF00303014

    Articles: DFG German National Licenses
  17. 17
    Staff View
    ISSN:
    1432-1203
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Biology
    Medicine
    Notes:
    Summary A cloned cDNA probe encoding human factor IX was used for detecting homologous sequences in rodent human X chromosome hybrids and in human metaphase chromosome preparations. The results of these studies indicate that human factor IX is localized to the Xq27→Xqter region.
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1007/BF00286666

    Articles: DFG German National Licenses
  18. 18
    Staff View
    ISSN:
    1432-1203
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Biology
    Medicine
    Notes:
    Summary Blood specimens from a random sample of 981 South African Negroid females were typed electrophoretically inter alia for their G-6-PD phenotypes. The allele frequency for GdB and GdnonB was found to be 0.8126 and 0.1874 respectively. Calculating the number of individuals expected for each phenotypic class, a highly significant deviation from the Hardy-Weinberg equilibrium became manifest, i.e. there was a deficit of 24.6% of heterozygotes and an excess of 12.3% of each of the two classes of homozygotes. Several possible reasons for this discrepancy e.g. the effects of pooling sub-samples, selection and misclassifications due to insufficient staining were examined and were found not to be likely explanations for the observed phenomenon. Instead, the result is interpreted as due to only 3–4 stem cells which give rise to the haematopoetic system in man.
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1007/BF00393967

    Articles: DFG German National Licenses
  19. 19
    Staff View
    ISSN:
    1432-1203
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Biology
    Medicine
    Notes:
    Summary The gene locus for steroid sulfatase, deficiency of which causes X-linked ichthyosis, is assigned to Xp11→Xpter by analysis of 24 man-Chinese hamster somatic cell hybrids. High steroid sulfatase,activity in a hybrid clone having retained only part of Xq is explained by demonstration of an additional late-replicating human X chromosome. This observation confirms previous evidence for noninactivation of the STS locus.
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1007/BF00278972

    Articles: DFG German National Licenses
  20. 20
    Müller, C. R. ; Migl, Beate ; Traupe, H. ; Ropers, H. H.
    Springer
    Published 1980
    Staff View
    ISSN:
    1432-1203
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Biology
    Medicine
    Notes:
    Summary Steroid sulfatase (STS) activities in female fibroblast strains are significantly higher than in male strains, as determined by cleavage of dehydroepiandrosterone sulfate. The difference is probably not due to hormonal control of gene expression, but suggests that for this X-linked locus there is no gene dosage compensation.
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1007/BF00278971

    Articles: DFG German National Licenses