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  • 1965-1969  (7)
  • 1
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 1 (1966), S. 681-685 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Description / Table of Contents: Zusammenfassung Der Befund eines dreifachen Ph1-Chromosoms in Myeloblasten während der terminalen Phase einer chronisch myeloischen Leukämie wird beschrieben. Als ein möglicher Vervielfältigungsmechanismus wird wiederholte somatische Nondisjunktion zusätzlicher Chromosomen diskutiert und der gesetzmäßigen Verdoppelung des gesamten Genoms gegenübergestellt.
    Notes: Abstract A triplication of the Ph1-chromosome was observed in myeloblasts during the terminal phase of a chronic myeloid leukaemia. Repeated somatic nondisjunction of supernumerary chromosomes is dicussed as possible cause.
    Type of Medium: Electronic Resource
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  • 2
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 2 (1966), S. 133-164 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Type of Medium: Electronic Resource
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  • 4
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 2 (1966), S. 225-226 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Type of Medium: Electronic Resource
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  • 5
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 4 (1967), S. 112-126 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract In our experiments we first tested the ability of different concentrations of trypaflavine and hexamethylenetetramine to induce dominant lethal mutations by injecting the compounds intraperitoneally or orally into male mice. Only for high dosages the induction of dominant lethals could be ascertained (50 mg trypaflavine per kg body weight and 25000 mg/kg hexamethylenetetramine). No specific sensitivity of single stages of the cycle of spermatogenesis was observed. It could be demonstrated by fluorescence microscopy that trypaflavine invades the male germ cells. Further indications for the weak mutagenicity of this compound we received cytogenetically by finding some chromosome aberrations and increased rates of univalents in diakinesis. In vitro investigations with hexamethylenetetramine in high final concentrations used in the mice experiments induced cell death, depression of mitosis and clumping of chromosomal material in blood cells as well as in HeLa cell cultures. Lower concentrations tested on HeLa cells were found to induce a number of chromosomal aberrations, but in a certain dosage, only (1×10-3M). No chromosome changes could be recognized in blood or HeLa cell mitosis when hexamethylenetetramine was given in final concentrations 1×10-4M and lower. A comparison of the used concentrations of the test substances and their mutagenic efficiency with the usual therapeutic dosages give rise to assume that the genetic risk for man is low for both drugs.
    Type of Medium: Electronic Resource
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  • 6
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 4 (1967), S. 294-304 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The crying of one baby (girl) with a cri du chat-syndrome and another baby (boy) with a similar voice, but without the typical B-chromosome deficiency, were analysed by acoustic methods. The particular physical qualities of the voices were compared to those of normal infants. The typical cry of the girl is different from normal cries in the following characteristics: 1. in the pitch (nearly one octave higher, 600 ... 900 Hz), 2. in a monotonous melody curve, which means a lack of expression in its sound character, 3. in the vocalic sound character similar to singing the vowel “e”, and in the absence of random noise in the frequency spectrum. The cry of the boy suspected to have the cri du chat-syndrome also had these qualities, but only in certain parts of his crying. The acoustic analysis show some important differences in the crying of these two babies: the girl with the cri du chat-syndrome can cry only in her typical way. The boy changes the character of his crying as soon as he is offended. Then the cry becomes normal in all qualities with exception of a higher frequency. The course of melody, a periodicity with falling frequency at the end of each single cry and the share of random noise give the cry an expression like that of a normal baby. Further acoustic analyses are necessary, especially of infants with cri du chat-like crying who are supposed to have a specific cerebral defect. Some ideas as to the pathogenesis of the typical cri du chat of babies with the syndrome are discussed. Our results show that it is caused by an organic or functional cerebral lesion and not by a malformation of the voice giving organs. Addendum: After the manuscript was submitted the paper of V. Vuorenkoski et al. was brought to our attention. Thier results regarding the typical features of cries from babies with the syndrome are in agreement with our findings. This also confirms our suggestion that special analysis of cries may serve to exclude clinical similar cases with different etiology.
    Type of Medium: Electronic Resource
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  • 7
    Electronic Resource
    Electronic Resource
    Springer
    Journal of orofacial orthopedics 26 (1965), S. 455-464 
    ISSN: 1615-6714
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
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