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  • 1975-1979  (8)
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  • 1
    Electronic Resource
    Electronic Resource
    Complementation after fusion of Sandhoff- and Tay-Sachs fibroblasts (1975)
    Springer
    Human genetics 〈Berlin〉 26 (1975), S. 117-121 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Description / Table of Contents: Zusammenfassung Fibroblasten von Patienten mit Tay-Sachsscher und Sandhoffscher Krankheit wurden fusioniert. 7–22 Tage nach der Fusion ließ sich Hexosaminidase A in den Hybriden elektrophoretisch und durch Hitzeinaktivierung nachweisen.
    Notes: Summary Fibroblasts of patients with Tay-Sachs' and Sandhoff's disease have been fused. After 7 to 22 days in culture hexosaminidase A-activity could be demonstrated in the hybrid cells both electrophoretically and by heat inactivation.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00278438
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Progressive myoclonus epilepsy (1979)
    Springer
    Human genetics 〈Berlin〉 49 (1979), S. 83-89 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The syndrome of myoclonus, epilepsy, and mental deficiency is observed in a number of distinct nosologic entities differing with respect to clinical course, (-) pathologic, and biochemical findings. Genetically, the heterogeneity within this group of disorders is shown by the occurrence of autosomal recessive and dominant forms with incomplete penetrance. In this paper we report on a sibship with at least four affected males suffering from progressive myoclonus epilepsy, ataxia, and mental deterioration. The syndrome is probably X-linked, as suggested by the maternal transmission and mild, variable symptoms in some female carriers. In a survey of the literature we have found another pedigree suggesting X-linked inheritance of this variant of progressive myoclonus epilepsy.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00277689
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    Paper (German National Licenses)
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  • 3
    Electronic Resource
    Electronic Resource
    Clinical and biochemical investigations on patients with partial deficiency of placental steroid sulfatase (1979)
    Springer
    Human genetics 〈Berlin〉 46 (1979), S. 199-207 
    Details
    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
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    Paper (German National Licenses)
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  • 4
    Electronic Resource
    Electronic Resource
    Distribution of G6PD phenotypes in red blood cells of Southern African Negroids: Evidence for somatic selection (1978)
    Springer
    Human genetics 〈Berlin〉 42 (1978), S. 215-221 
    Details
    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
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    Paper (German National Licenses)
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  • 5
    Electronic Resource
    Electronic Resource
    Fabry's disease: Heterozygote detection by hair root analysis (1976)
    Springer
    Human genetics 〈Berlin〉 32 (1976), S. 329-334 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Fabry's disease (angiokeratoma corporis diffusum) can be diagnosed by determination of α-galactosidase activity in single hair roots. A technique has been developed permitting subsequent analysis of enzyme activity and protein content of hair root cells. We have applied this method examining 8 obligatorily heterozygous sisters as well as their 5 daughters and 10 sons. Especially for identification of heterozygotes, the method described proved to be easy and reliable.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00295824
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  • 6
    Electronic Resource
    Electronic Resource
    Periodic hypokalemic paralysis transmitted by an unaffected male with negative family history: A delayed mutation? (1979)
    Springer
    Human genetics 〈Berlin〉 48 (1979), S. 113-116 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary A pedigree is described that includes three cases of periodic hypokalemic paralysis. Apparently, the disease has arisen by de novo mutation in a father of two affected daughters, who, however, is not affected himself. This is unexpected, since in males the disorder is generally inherited as a fully dominant trait. Therefore we propose that these findings result from an early somatic or a half-chromatid mutation.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00273282
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    Paper (German National Licenses)
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  • 7
    Electronic Resource
    Electronic Resource
    Tentative evidence for 3–4 haematopoetic stem cells in man (1977)
    Springer
    Human genetics 〈Berlin〉 35 (1977), S. 175-183 
    Details
    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
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    Paper (German National Licenses)
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  • 8
    Electronic Resource
    Electronic Resource
    Biochemische Grundlagen der Humangenetik. Von H. Harris. Nach der englischen Originalausgabe “The Principles of Human Biochemical Genetics” übersetzt von J. Bauer. 292 Seiten, 90 Abbildungen und 38 Tabellen. Verlag Chemie, Weinheim 1974. DM 38,- (1975)
    Weinheim : Wiley-Blackwell
    Biologie in unserer Zeit 5 (1975), S. 63-63 
    Details
    ISSN: 0045-205X
    Keywords: Life and Medical Sciences
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Biology
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1002/biuz.19750050211
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    Paper (German National Licenses)
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