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  • 1
    Electronic Resource
    Electronic Resource
    Localization of the nucleolar organizer by computer-aided analysis of a variant no. 21 in a human isolate (1979)
    Springer
    Human genetics 〈Berlin〉 48 (1979), S. 211-219 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary A variant chromosome no. 21 consisting of two stalks and two satellites in tandem was detected during a survey of a human isolate. The variant segregated in three generations of a large kindred. One male had the variant no. 21, a metacentric Y, and a 47, XXY complement; however, no other evidence of chromosomal nondisjunction was found. Computer-aided analysis of sequentially stained variant no. 21 chromosomes indicated that silver-stained material corresponded to the proximal stalk region (as defined defined by Giemsa). These data support the hypothesis that human nucleolar organizers are localized to the stalks of acrocentric chromosomes.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00286906
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    XY gonadal dysgenesis: Genetic heterogeneity based upon clinical observations, H-Y antigen status and segregation analysis (1981)
    Springer
    Human genetics 〈Berlin〉 58 (1981), S. 91-97 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Clinical observations and segregation analysis indicate that XY gonadal dysgenesis is characterized by genetic heterogeneity. In addition to the type inherited in X-linked recessive fashion, segregation analysis of other families suggested another type by revealing that the proportion of affected sibs did not differ from that expected on the basis of a male-limited autosomal recessive inheritance. Further heterogeneity may be deduced on the basis of coexisting campomelic dwarfism or possibly also renal parenchymal abnormalities. These observations of genetic heterogeneity must be considered when interpreting studies in which individuals with XY gonadal dysgenesis may or may not show H-Y antigen.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00284155
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    Paper (German National Licenses)
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  • 3
    Electronic Resource
    Electronic Resource
    Ultrasonic induction of sister chromatid exchanges in human lymphocytes (1981)
    Springer
    Human genetics 〈Berlin〉 59 (1981), S. 221-226 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary We analyzed sister chromatid exchange (SCE) frequencies as an indicator of DNA damage induced in human lymphocytes by ‘real-time’ ultrasound. A range of exposure times and intensities was tested in a series of blind, randomized, in vitro experiments under spatial and sonographic conditions simulating exposure of a gravid abdomen and uterus. Our studies showed small but consistent effects of ultrasound on SCE frequencies, for each experiment. Differences between matched control and exposed means were significantly different from zero. X 2 tests for homogeneity indicated no significant differences among either the means or the total distributions of the controls, nor among each of the separate dose levels. Consequently, experiments were pooled, and X 2 analysis indicated significant differences both among distributions and among means of SCE frequencies for controls versus exposed cells (P(0.001). The pooled control mean was also significantly different from each of the pooled dose means. Correcting for multiple comparisons gave identical results for the paired comparisons of means except for the 20-min level which was borderline (0.025P(0.01). We conclude that the well-established value of clinical ultrasonography warrants its continued use; however, minimizing the numbers and lengths of exposure per patient would seem prudent, pending further information on clinical implications of our results.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00283668
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    Paper (German National Licenses)
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  • 4
    Electronic Resource
    Electronic Resource
    Increased sister chromatid exchanges in human cell lines characterized by monosomy X or structural abnormalities of the X chromosome (1984)
    Springer
    Human genetics 〈Berlin〉 68 (1984), S. 205-208 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary In the present investigation we test the hypothesis that deficiencies in the X chromosome affect sister chromatid exchange (SCE) frequencies in human fibroblast cell lines. Our results show increased mean SCE frequencies in cell lines with abnormalities of the X chromosome: 45,X; 46,X,del(X) (q13), 46,X,del(X)(p11), and 46,X,i(Xq); control cell lines were 46,XX. In only one abnormal line [46,X,del(X)(p11)] was the increase not significant after correcting for multiple comparisons. If SCE formation is replication-dependent, the increased SCE frequencies might merely reflect the prolonged cell cycle we reported previously in cell lines with X chromosome abnormalities (Simpson and LeBeau 1981). Other explanations for differences between cell lines are possible, e.g., that deleted loci on the X chromosome affect cellular uptake of bromodeoxyuridine (BrDU). However, specific mechanisms were not explored directly.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00418389
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  • 5
    Electronic Resource
    Electronic Resource
    Studies on the rate of spermatogenesis inDrosophila effects of X-rays and streptonigrin (1965)
    Springer
    Molecular genetics and genomics 96 (1965), S. 28-35 
    Details
    ISSN: 1617-4623
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Summary 1. The rate of spermatogenesis in adultDrosophila melanogaster was measured by use of tritiated thymidine as a radioactive tracer. Three experimental groups existed: control, irradiated, and streptonigrin-treated males. 2. A refined time schedule for normal spermatogenesis is presented and compared to schedules prepared by other investigators. 3. Evidence for a decrease in the rate of spermatogenesis induced by X-rays and by streptonigrin is tabulated. 4. The importance of this line of investigation to studies on the differential radiosensitivity of male gametes is discussed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00897233
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    Paper (German National Licenses)
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