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  • 1970-1974  (7)
  • 1
    Electronic Resource
    Electronic Resource
    Antenatal diagnosis of maple syrup urine disease (1974)
    Springer
    European journal of pediatrics 118 (1974), S. 225-229 
    Details
    ISSN: 1432-1076
    Keywords: Antenatal diagnosis ; Enzyme assay ; MSUD ; Recessive inheritance
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Es wurde eine pränatale Diagnostik auf Ahornsirupkrankheit bei einer Frau mit zwei an dieser Erkrankung verstorbenen Kindern durchgeführt. Mit einer relativ einfachen Methode konnten wir feststellen, daß die kultivierten Amnionzellen (weiblicher Karyotyp) im Vergleich mit den Kontrollen keine veränderten Enzymaktivitäten zeigten. Die Geburt eines weiblichen, gesunden Säuglings bestätigte unser Ergebnis.
    Notes: Abstract Antenatal diagnosis of MSUD was carried out in a family with 2 known MSUD cases. By means of a relatively simple method we were able to show that the enzyme activity of the cultivated amnion cells (female karyotype) was not lower than the activities of the control cells. The birth of a healthy girl confirmed our result.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00464613
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Familial short arm deletion of chromosome No. 15 (1974)
    Springer
    Human genetics 〈Berlin〉 21 (1974), S. 283-286 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Description / Table of Contents: Zusammenfassung Eine Deletion des kurzen Armes des Chromosoms Nr. 15 — del(15) (q11) — wurde bei einem 13jährigen Mädchen mit der klinischen Diagnose Anorexia nervosa gefunden. Die gleiche chromosomale Besonderheit wurde ebenfalls bei dem Vater gefunden, der jedoch phänotypisch unauffällig ist.
    Notes: Summary A short arm deletion of chromosome No. 15 — del(15)(q11) — was detected in a 13-year-old girl with the clinical diagnosis of anorexia nervosa. The same marker chromosome was also found in the father, who is phenotypically inconspicuous.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00279024
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    Paper (German National Licenses)
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  • 3
    Electronic Resource
    Electronic Resource
    On the position of chromosomes in prepared mitosis figures of human fibroblasts (1971)
    Springer
    Human genetics 〈Berlin〉 13 (1971), S. 166-170 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Description / Table of Contents: Zusammenfassung An je 100 Mitoseplatten einer männlichen und weiblichen Fibroblastenkultur wurden nach zirkulärer Transformation die Abstandquadrate der einzelnen Chromosomenpaare zum Zentrum der Platte gemessen. Es ergibt sich eine signifikante Zuordnung der großen Chromosomen zur Peripherie, der kleinen Chromosomen zur inneren Zone der Mitoseplatte.
    Notes: Summary The square distances of chromosome centromeres to the center of the mitosis plate, after circular transformation, were measured on each 100 mitosis plates of cultured fibroblasts from a man and a woman. It is proved statistically, that the larger chromosomes are located more in the periphery than the smaller chromosomes.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00295800
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    Paper (German National Licenses)
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  • 4
    Electronic Resource
    Electronic Resource
    Trisomy of the short arm of chromosome 17 (1974)
    Springer
    Human genetics 〈Berlin〉 23 (1974), S. 213-217 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Description / Table of Contents: Zusammenfassung Bei einem Neugeborenen, das klinisch durch multiple Mißbildungen auffiel, wurde ein akrozentrisches Extrachromosom gefunden, das kleiner war als die Chromosomen der G-Gruppe. Mit Hilfe der Q-,C- und G-Bandentechnik ließ sich das überzählige Chromosom als kurzer Arm des Chromosom 17 in der E-Gruppe einordnen.
    Notes: Summary The chromosome analysis of a female newborn with multiple malformations revealed an extra, small acrocentric chromosome that is smaller than the G-group chromosomes. Using special staining techniques, we identified the extra chromosome as the short arm of chromosome 17.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00285107
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    Paper (German National Licenses)
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  • 5
    Electronic Resource
    Electronic Resource
    A case of 48,XXYY —Paternal origin of the extra X chromosome (1974)
    Springer
    Human genetics 〈Berlin〉 25 (1974), S. 159-161 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Description / Table of Contents: Zusammenfassung Es wird von einem Fall 48,XXYY berichtet. Mit Hilfe des Xg-Blutgruppenmerkmals ließ sich die väterliche Herkunft des zusätzlichen X-Chromosoms nachweisen.
    Notes: Summary A case of 48,XXYY is reported. By means of the Xg blood group the extra X chromosome could be ascertained to be of paternal origin.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00283317
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    Paper (German National Licenses)
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  • 6
    Electronic Resource
    Electronic Resource
    Supernumerary small ring chromosome (1974)
    Springer
    Human genetics 〈Berlin〉 25 (1974), S. 17-28 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The chromosome analysis of a 10-year-old boy with the clinical symptoms of cheilo-palato-gnatho-schisis and debility revealed an extra small chromosome fragment in most of his cells. Mosaicism of karyotypes has led to the suggestion that the extra chromosome could be a minute ring chromosome. The occurrence of anaphase bridges and micronuclei gave the further evidence of the ring nature of this extra chromosome. Because of its minuteness, the origin of the extra chromosome was not determinable. A comparison of clinical symptoms with those of other known trisomy syndromes is not feasible. Due to the special behavior of the ring chromosome resulting in its gradual elimination, it is supposed that the percentage of euploid cells increases at the same rate.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00281003
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    Paper (German National Licenses)
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  • 7
    Electronic Resource
    Electronic Resource
    The behavior of ring chromosome 13 (1974)
    Springer
    Human genetics 〈Berlin〉 24 (1974), S. 161-171 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Description / Table of Contents: Zusammenfassung Ein Fall von Ringchromosom 13 wurde berichtet. Mit der Hilfe der Bandenfärbung war es gelungen, die Bruchstellen — Region 3 Band 4 des langen Armes und Region 1 Band 1 des kurzen Armes — zu lokalisieren. Die mannigfaltigen Verhaltensmuster des Ringchromosoms und die daraus sich ergebenden Karyotypenmosaike wurden analysiert.
    Notes: Summary A case of 13r was reported. By means of banding staining techniques it could be shown that the long arm was broken at region 3 band 4 and the short arm at region 1 band 1. The manifold pattern of behavior of the ring chromosome and their results in mosaic karyotypes were analysed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00283581
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    Paper (German National Licenses)
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