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  • 1
    Electronic Resource
    Electronic Resource
    An azoospermic male with a Y/Autosome translocation (1979)
    Springer
    Human genetics 〈Berlin〉 46 (1979), S. 155-158 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary This report describes an azoospermic male carrying a Y/autosome translocation. The patient had a 46,X,t(Y;10)(q12;p13) chromosome complement in a lymphocyte culture. The cytogenetic study of this patient is described, together with testicular histology, spermiogram, hormone levels, and clinical history.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00291916
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  • 2
    Electronic Resource
    Electronic Resource
    Los Angeles variant of galactose-1-phosphate uridyltransferase (EC 2.7.7.12) in a Mexican family (1979)
    Springer
    Human genetics 〈Berlin〉 48 (1979), S. 121-124 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Enzymatic activity and electrophoretic mobility of galactose-1-phosphate uridyltransferase (EC 2.7.7.12) were assayed in a Mexican family (8 sibs and their parents) with two galactosemic members. Normal, galactosemic and Los Angeles enzyme variants were identified. A survey of the ethnological backgrounds of the individuals reported to date with the Los Angeles variant showed multiple origins that could be explained by an ancient and widespread gene mutation or, more probably, by further biochemical heterogeneity.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00273284
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  • 3
    Electronic Resource
    Electronic Resource
    Translocation of a supernumerary Y to a 15: Study of six cases (three males and three females) in three generations (1979)
    Springer
    Human genetics 〈Berlin〉 48 (1979), S. 191-194 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary We present a family in which six members (three males and three females) carry a translocation of the fluorescent part of a supernumerary Y to a 15. The carriers do not have any impairment of fertility or any malformation.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00286903
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  • 4
    Electronic Resource
    Electronic Resource
    Recurrence of Down syndrome associated with microchromosome (1979)
    Springer
    Human genetics 〈Berlin〉 49 (1979), S. 7-10 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary We report a family with five members presenting an extra bisatellited microchromosome. Two of them also present trisomy 21. We discuss the relationship between trisomy and the extra chromosome.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00277682
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  • 5
    Electronic Resource
    Electronic Resource
    The G-banded prophase chromosomes of man (1975)
    Springer
    Human genetics 〈Berlin〉 27 (1975), S. 167-172 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Using a simple G-banding technique developed in our laboratory, analysis of late prophases enables the visualization of approximately 1000 bands in the haploid set of human chromosomes. These bands have been classified according to the recommendations of the Paris Conference. The increased resolution offered by this technique is likely to be useful in the study of the structure and molecular organization of chromosomes and in identifying minute chromosome defects in birth defects and neoplasia.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00278343
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  • 6
    Electronic Resource
    Electronic Resource
    Partial mispairing and crossing-over between β0 and δ genes as the origin of the δ β0 thalassemia gene (1979)
    Springer
    Human genetics 〈Berlin〉 49 (1979), S. 191-198 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Two double heterozygous β0/δβ0 thalassemic sibs of Mexican descent were studied. The father had a β0/β0 genotype, while the mother, one sib and several maternal relatives were β0/δβ0 heterozygotes. Parental consanguinity and an apparently low frequency of thalassemia among Mexicans suggested a possible common origin of both β0 and δβ0 genes. A hypothesis to explain such a possibility is proposed on the basis of a partial mispairing between β0 and δ genes followed by a crossing-over which would results in a δβ0 recombinant gene. This hypothesis could also be extended to explain the β 22 glu→ala, δ 22 ala→glu and δ 116 arg→his Hb variants as recombinants from double crossing-over between β and δ mispaired genes for which the name “interstitial-Lepore” is proposed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00277642
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  • 7
    Electronic Resource
    Electronic Resource
    Dynamic properties of cat tenuissimus muscle (1979)
    Springer
    Biological cybernetics 33 (1979), S. 187-197 
    Details
    ISSN: 1432-0770
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Computer Science , Physics
    Notes: Abstract Some of the factors which influence the development of tension in cat tenuissimus muscle were studied quantitatively. Under isometric conditions, it was shown that the dynamic properties of the relationship between the tension of the muscle and its electrical stimulation depend on the mean rate of stimulation. This non-linear effect cannot be explained on the basis of the dependence of muscle tension on instantaneous rate of stimulation since the tension due to a stimulus following closely a previous stimulus is augmented, but the time course of the twitch response is unaltered. The interaction between the tension due to active contraction and that due to the viscoelastic properties of the muscle was investigated by independently varying muscle length and the rate of stimulation. Within the limits of resolution of the data, it was concluded that these two components of tension are additive and that muscle stiffness is related to the instantaneous tension of the muscle.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00337408
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  • 8
    Electronic Resource
    Electronic Resource
    Pharmacokinetics of cefoxitin in patients with normal or impaired renal function (1979)
    Springer
    European journal of clinical pharmacology 16 (1979), S. 119-124 
    Details
    ISSN: 1432-1041
    Keywords: cefoxitin ; renal impairment ; pharmacokinetics
    Source: Springer Online Journal Archives 1860-2000
    Topics: Chemistry and Pharmacology , Medicine
    Notes: Summary The pharmacokinetics of cefoxitin have been determined after a single i.v. injection of 15 mg/kg body weight in 10 patients with normal renal function and 20 patients with varying degrees of renal impairment. The kinetics of the antibiotic followed an open two-compartment model. In patients with normal renal function the following pharmacokinetic parameters were found: $$\begin{gathered} \begin{array}{*{20}c} {\alpha = 8.66 h^{ - 1} } & {\beta = 1.21 h^{ - 1} } & {K_{12} = 3.47 h^{ - 1} } \\ \end{array} \hfill \\ \begin{array}{*{20}c} {K_{21} = 3.17 h^{ - 1} } & {K_{13} = 3.15 h^{ - 1} } & {V_c = 4.24 l.} \\ \end{array} \hfill \\ \begin{array}{*{20}c} {V_p = 4.87 l.} & { Vd_{ss} = 9.11 l.} \\ \end{array} \hfill \\ \end{gathered}$$ In the patients with renal impairment there was a significant decrease in $$\mathop \alpha \limits_, \mathop \beta \limits_, $$ K12, K21 and K13, and an increase in the apparent volume of distribution. The degree of plasma protein binding in patients with normal renal function was 73.6% and this was diminished in patients with renal impairment. A linear relationship between K13 of cefoxitin and creatinine clearance was demonstrated. The dosage regimen for patients with renal impairment should be adjusted by modifying the dosage interval whilst maintaining the amount administered.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00563118
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  • 9
    Electronic Resource
    Electronic Resource
    Lactate dehydrogenases in cyanobacteria (1975)
    Springer
    Archives of microbiology 104 (1975), S. 57-65 
    Details
    ISSN: 1432-072X
    Keywords: Cyanobacteria ; Lactate Dehydrogenases ; Lactate Metabolism ; Synechococcus ; Aphanocapsa
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract NAD-linked lactate dehydrogenases specific for the d- and l-lactate have been demonstrated in a number of strains of unicellular cyanobacteria. The d-lactate dehydrogenase of one strain (Synechococcus 6716) was partially purified and its properties were studied. The enzyme has a molecular weight of ca. 115000–120000, is highly specific, autooxidizable, and susceptible to inhibition by iodoacetamide, oxamate and ATP. The possible physiological functions of the enzyme in the metabolism of the organism were investigated. d-lactate carbon was incorporated in cell material during photosynthetic growth with CO2, but lactate was not used as sole source of carbon for photosynthetic or chemosynthetic development. d-lactate and pyruvate were oxidized aerobically in the dark by resting cell suspensions with the assimilation mainly of the the C3 and C3 carbon atoms. In the oxidation of lactate, acetate was excreted into the medium. No fermentation of glucose was found, but a small amount of d-lactate was detected as a product of endogenous dark metabolism of the cell. All enzymes required for the production of lactate from glucose and from glycogen were found in exponentially growing cells, but the activity of some key enzymes was low or undetectable in old cultures.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00447300
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  • 10
    Electronic Resource
    Electronic Resource
    Homoeologous chromosomal location of the genes encoding thionins in wheat and rye (1979)
    Springer
    Theoretical and applied genetics 54 (1979), S. 61-63 
    Details
    ISSN: 1432-2242
    Keywords: Wheat ; Rye ; Thionins ; Homoeology
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Summary Thionins are high sulphur basic polypeptides present in the endosperm of Gramineae. In wheat there are three thionins encoded by genes located in the long arms of chromosomes 1A, 1B and 1D. Rye has one thionin encoded by a gene which has been assigned to chromosome 1R after analysis of the Imperial-Chinese Spring rye-wheat disomic addition lines. Commercial varieties and experimental stocks with a 1B/1R substitution carry the thionin from rye (β R) instead of the α B thionin from wheat. The β R thionin gene is not located in the large chromosomal segment representing most of the short arm of chromosome 1R.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00265470
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