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  • 1
    Electronic Resource
    Electronic Resource
    Distribution of blood and serum protein group characteristics in patients with diabetes (1975)
    Springer
    Diabetologia 11 (1975), S. 77-82 
    Details
    ISSN: 1432-0428
    Keywords: Blood groups and disease ; blood group association ; selection in diabetes ; diabetes type differentiation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary In a sample of 1.033 diabetic patients characteristics of 10 group specific systems (ABO, MNS, Rh, P, K and Fy blood groups and Hp, Gc and Gm serum types) were tested in order to verify any association of hereditary group specific traits and diabetes. The patients were subgrouped for sex, seriousness of diabetes, age of manifestation and body type. The frequencies of the group specific traits were statistically compared with those of an appropriate control group using the χ2 test. Resulting from that investigation an increase of blood group 0 was found in diabetics below average in corpulence (basing upon the Rohrer index), and a confirmation was found for an already suspected association of diabetes and the Gm (a + x +) type.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00422822
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Karyotyp-Phenotyp-Lorrelation bei einem 46,Xdel(X)(p22)-Befund (1976)
    Springer
    Human genetics 〈Berlin〉 31 (1976), S. 263-270 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary In a patient with a height of 1.46 m, short neck and cubitus valgus the unbalanced karyotype 46,Xdel(X)(p22) was found. The mother of the proband has the balanced karyotype 46,Xt(X;15)(p22;p1). The mother is 1.56 m tall and has a short neck and cubitus valgus too. For this reason the deletion of the Xp22 band seems to cause the short stature of Turner patients. Our proband has had 2 pregnancies which ended as abortions in the 2nd and 4th month. As Giraud et al. (1974) have shown the deletion of the dark middle bande of the short X chromosome arm induces a slight dysgenesie of the gonade.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00270856
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    Paper (German National Licenses)
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  • 3
    Electronic Resource
    Electronic Resource
    Unstable ring Y chromosome in an aspermic male (1979)
    Springer
    Human genetics 〈Berlin〉 47 (1979), S. 227-231 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary A ring Y chromosome was found in a male showing growth retardation and aspermia but normally developed external genitalia. The ring does not display either the characteristic brilliant Y fluorescence or the typical latereplicating heterochromatin.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00321013
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    Paper (German National Licenses)
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  • 4
    Electronic Resource
    Electronic Resource
    Ein Fall von testiculärer Feminisierung mit dem Karyotyp 47,XXY (1976)
    Springer
    Human genetics 〈Berlin〉 31 (1976), S. 59-65 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Description / Table of Contents: Zusammenfassung Ein Fall von testiculärer Feminisierung wird vorgestellt, der den Karyotyp 47,XXY in allen untersuchten Metaphasen aus Blut- und Hautkulturen hat. Ein solcher Karyotyp legt die Frage nahe, inwieweit sich die Gonosomenkontitution XXY mit dem Syndrom der testiculären Feminisierung und weiterhin mit dem bisher bekannten Vererbungsmodus bei der testiculären Feminisierung vereinbaren läßt. Eine Literaturübersicht wird gegeben.
    Notes: Summary A case of testicular feminization is described, who has the karyotype 47,XXY in all analysed metaphases from blood and skin cultures. The question is discussed whether the karyotype 47,XXY is compatible with the syndrome of testicular feminization and which conditions are required to allow the hitherto known transmission of testicular feminization in presence of the gonosomes XXY. A review of literature is given.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00270400
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    Paper (German National Licenses)
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  • 5
    Electronic Resource
    Electronic Resource
    The fatty acid composition of sphingomyelin from adult human cerebral white matter and changes in childhood, senium and unspecific brain damage (1977)
    Springer
    Journal of neurology 216 (1977), S. 57-65 
    Details
    ISSN: 1432-1459
    Keywords: Cerebral white matter ; Sphingomyelin ; Fatty acid composition ; Demyelination
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Es wird eine Mikromethode zur Untersuchung der Fettsäurezusammensetzung von Sphingomyelin beschrieben. In der Marksubstanz von 17 normalen erwachsenen Vergleichshirnen sind die wichtigsten Fettsäuren C 18:0 und C 24:1. Unsere Ergebnisse stimmen gut mit den Ergebnissen anderer Autoren überein. Bei Kindern findet sich eine relative Vermehrung kurzkettiger Fettsäuren, diese Verschiebung ist typisch für „unreifes“ Myelin. Ähnliche Veränderungen werden hier auch bei Greisen und Fällen mit unspezifischem Hirnschaden (Autolyse), chronischer Urämie und juveniler Chorea Huntington (alle in Verbindung mit diffuser Entmarkung) beschrieben. Man kann davon ausgehen, daß die Fettsäurezusammensetzung von Sphingomyelin einen empfindlichen Maßstab sowohl für eine gestörte Myelinisierung wie auch für Demyelinisierung darstellt.
    Notes: Summary A micromethod for the investigation of the fatty acid composition of sphingomyelin is presented. In the cerebral white matter of 17 normal adult brains, analyzed for reference, the predominant fatty acids are C 18:0 and C 24:1. Our results are in agreement with those of other authors. Short chained fatty acids are relatively increased in young children; this shift is typical of “immature” myelin. Similar changes are described here in old persons and cases of non-specific brain damage associated with demyelination (autolysis, chronic uremia, juvenile chorea). Sphingomyelin fatty acid composition can be considered a sensitive measure of both disturbed myelination and demyelination.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00312817
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    Paper (German National Licenses)
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  • 6
    Electronic Resource
    Electronic Resource
    The fatty acid composition of major glycosphingolipids (cerebrosides and sulfatides) in human cerebral white matter measured by a simple micromethod (1976)
    Springer
    Journal of neurology 213 (1976), S. 47-58 
    Details
    ISSN: 1432-1459
    Keywords: Myelin lipids ; White matter lipids ; Glycosphingolipids ; Cerebrosides ; Sulfatides ; Micromethod ; Fatty acids
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Es wurde eine Mikromethode zur Bestimmung der Fettsäurezusammensetzung der myelintypischen Glykosphingolipide (Cerebroside und Sulfatide) entwickelt, welche für entsprechende Untersuchungen bei verschiedenen neurologischen Erkrankungen, insbesondere Entmarkungskrankheiten, eingesetzt werden kann. Ausgehend von 1 g Gewebsmaterial werden die Lipide extrahiert, die Phospholipide an aktiviertem Florisil abgetrennt und die Glykolipide dünnschichtchromatographisch in je 2 Cerebrosid- und Sulfatidfraktionen aufgetrennt. Diese können dann einzeln untersucht werden. Die Ergebnisse der Fettsäureanalysen von 13 autoptisch gewonnenen normalen Gehirnproben erwachsener Personen besitzen nur eine geringe Streubreite, was besonders für die langkettigen Fettsäuren gilt. Die Befunde mit unserer Mikromethode stehen in guter Übereinstimmung mit den Werten anderer Autoren.
    Notes: Summary A micromethod for the investigation of the fatty acid composition of myelin glycosphingolipids (cerebrosides and sulfatides) suitable for general application in the investigation of neurological disorders, especially demyelinating diseases, is presented. Using the lipids extracted from 1 g of material these are freed of phospholipids by Florisil column chromatography and separated by thin-layer chromatography into 2 cerebroside and sulfatide fractions which are analyzed individually. The results obtained from the white matter of 13 normal adult brains are distributed within a narrow range which is most pronounced for the group of long chain fatty acids. Our results also agree with those quoted from literature.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00316339
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    Paper (German National Licenses)
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  • 7
    Electronic Resource
    Electronic Resource
    Klinik und Genetik der gittrigen Hornhautdystrophie (1975)
    Springer
    Graefe's archive for clinical and experimental ophthalmology 193 (1975), S. 109-120 
    Details
    ISSN: 1435-702X
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung 4 Familien mit gittriger Hornhautdystrophie wurden untersucht. Zur Analyse der Koppelungsfrage für den Genort dieser Erkrankung wurden die informativen Teile der Familien serologisch getestet, wobei die Blutgruppensysteme ABO, MNSs, Rh, K, Fy und P, die Serumeiweißgruppensysteme Hp, Gc, Gm und Inv und die Enzymgruppensysteme SEP, PGM, ADA und AK analysiert wurden.
    Notes: Summary Lattice dystrophy of the cornea is reported in 4 families. For purposes of linkage analysis we did serological tests on pertinent family members, including marker testing of the blood group systems ABO, MNSs, Rh, K, Fy, and P; protein group systems Hp, Gc, Gm, and Inv; and enzyme polymorphisms SEP, PGM, ADA, and AK.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00419355
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    Paper (German National Licenses)
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