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  • 11
    Electronic Resource
    Electronic Resource
    Ring chromosome 13 in a polymalformed anencephalic (1975)
    Springer
    Human genetics 〈Berlin〉 27 (1975), S. 63-66 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary In the 33rd week of pregnancy an amniocentesis was performed because of low estriol. X-ray indicated the presence of anencephaly and a premature delivery was induced. Necropsy, in addition to anencephaly, showed a wide variety of malformations. The fetal karyotype determined from cultured amniotic fluid cells revealed a ring chromosome 13.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00283507
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  • 12
    Electronic Resource
    Electronic Resource
    The rate of sister chromatid exchanges parallel to spontaneous chromosome breakage in Fanconi's anemia and to trenimon-induced aberrations in human lymphocytes and fibroblasts (1975)
    Springer
    Human genetics 〈Berlin〉 29 (1975), S. 201-206 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The incidence of structural chromosome aberrations and the rate of sister chromatid exchanges (SCE) was investigated in lymphocyte cultures from a patient with typical Fanconi's anemia and his parents. The rate of SCEs was found to be normal. In experiments with the alkylating agent Trenimon the SCE rates proved to be a sensitive indicator for the induction of structural aberrations: in presence of an induced aberration rate half as high as the spontaneous rate in the Fanconi's anemia case, the rate of SCEs was found to be quintupled. Dose-effect relationships for the induction of SCE rates by Trenimon were studied over a wide dose range in lymphocyte and fibroblast cultures. The results reflect the same difference in sensitivity earlier observed in the induction of structural chromosome aberrations, fibroblasts being far more sensitive.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00297624
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  • 13
    Electronic Resource
    Electronic Resource
    Die muskuläre Dämpfung niederfrequenter Schwingungen im Tierversuch (1977)
    Springer
    Archives of orthopaedic and trauma surgery 87 (1977), S. 317-323 
    Details
    ISSN: 1434-3916
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Zur Klärung vibrationsbedingter Wirbelsäulenbeschwerden bei Hubschrauberpiloten wurde tierexperimentell die muskuläre Dämpfung untersucht. Am Pirbright-Meerschweinchen wurden auf einem Schwingtisch Beschleunigungswerte einmal unter Abwehrspannung, im zweiten Versuch unter maximaler Relaxation der Muskulatur gemessen. Das verspannte Tier dämpfte die bei 5 Hz auftretenden Resonanzen nahezu vollständig. Beim relaxierten Tier ließ sich im gleichen Frequenzbereich eine eindeutige Resonanzkurve entwickeln. Hingegen wurden höherfrequente Vibrationen bis 15 Hz beim relaxierten Tier in zunehmendem Maße stärker gedämpft als unter muskulärer Abwehrspannung. Die Schutzfunktion einer nicht ermüdeten Stammesmuskulatur zur Abwehr besonders schlecht tolerierter Resonanzvibrationen wird diskutiert.
    Notes: Summary For the further clarification of helicopter pilot's spinal troubles caused by vibration the muscular absorption was examined with the help of animal experiments. On a swinging-table acceleration values were measured in Pirbright cavies; at first this was done under a defence reaction of the muscles, and in second experiment under maximum muscular relaxation. In the tense animal the resonance occurring at 5 Hz was almost completely absorbed, whereas in the relaxed animal a clear resonance—curve could be developed at 5 Hz. On the other hand vibration at a higher frequency up to 15 Hz were to an increasing extent better absorbed in the relaxed animal than in animal with a muscular defence reaction. For this reason the protective function of a not fatigued musculature for the defence of especially badly tolerated resonance vibrations is being discussed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00416007
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  • 14
    Electronic Resource
    Electronic Resource
    Trisomy 6q25→6qter in a severely retarded 7-year-old boy with turricephaly, bow-shaped mouth, hypogenitalism and club feet (1979)
    Springer
    Human genetics 〈Berlin〉 46 (1979), S. 279-284 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Trisomy for a small terminal segment of chromosome 6q produces a characteristic syndrome of malformations and dysmorphic signs which, on the basis of comparison with a previously published case, may be suspected on clinical grounds. The present case concerns a 7-year-old boy, the son of a carrier mother t(6;14)(q25;qter). The main symptoms are: very severe physical and mental retardation, turricephaly, Cupid's bow mouth with narrow lips, almond-shaped eyes with narrow palpebral fissures and ptosis, micropenis with absence of scrotum, club feet, hammer toes, and extension contractures. In addition, there are a great many minor dysmorphic features.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00273311
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  • 15
    Electronic Resource
    Electronic Resource
    Further delineation of the clinical picture of trisomy for the distal segment of chromosome 13 (1976)
    Springer
    Human genetics 〈Berlin〉 32 (1976), S. 1-12 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Three cases of partial trisomy for the distal segment of chromosome 13 are reported. Common clinical features included normal birth weight, postnatal asphyxia, convulsions, severe psychomotor retardation, normal growth, and a distinct pattern of dysmorphias consisting of trigonocephalic head with prominent metopic suture, long and markedly curved eyelashes, a stubby nose, increased distance between nose and upper lip, high-arched palate, misshapen ears with virtually absent lobules and prominent anthelices which are curved in a sharp angle, and hemangiomata. Features present in 2 cases were microcephaly, long and narrow fingers with convex nails, and hexadactyly. Two cousins were unbalanced offspring of a large family of carriers of a 9/13 translocation, whereas the third case exhibited a 13p+ chromosome which was formed de novo. The clinical features in the 3 patients are typical of the syndrome due to partial trisomy for the distal segment of chromosome 13 which shows selected and mitigated signs of full trisomy 13.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00569970
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  • 16
    Electronic Resource
    Electronic Resource
    Centromere inactivation in a case of turner variant with two dicentric iso-long arm Y chromosomes (1978)
    Springer
    Human genetics 〈Berlin〉 41 (1978), S. 217-223 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary A 6-year-old girl of small stature and with some features of Turner's syndrome was found to have a karyotype with two-thirds of the cells possessing one, and one-third with two dicentric iso-long arm Y chromosomes. In metaphases with 46 chromosomes the majority of the abnormal Ys exhibited two primary constrictions. In cells with 47 chromosomes both isochromosomes prevalently had only one active centromere.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00273104
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  • 17
    Electronic Resource
    Electronic Resource
    Trisomy for the distal third of the long arm of chromosome 19 in brother and sister (1979)
    Springer
    Human genetics 〈Berlin〉 46 (1979), S. 263-270 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Trisomy for the distal third of the long arm of chromosome 19 was observed in a 12-year-old boy and his 9-year-old sister. Both are affected by extremely severe statural and psychomotor retardation. The physical symptoms common to both are dwarfism, micro- and brachycephaly, antimongoloid slant of the eyes, hypertelorism, ptosis, short nose, short philtrum, poorly formed ears, short neck with excess skin, barrel-shaped thorax, diastasis of rectus muscles, kyphosis, sacral dimple, excess of digital arches, pedes valgi, laterally curved big toes, epilepsy and muscular hypotonia. The chromosomal anomaly was transmitted by the mother, who is the carrier of a translocation t(19;20)(19q133;20pter). In the pedigree, extending over four generations, among 30 pregnancies fathered or mothered by 5 carriers resulted in: 6 individuals with normal karyotype, 9 carriers, 2 confirmed and 2 presumptive unbalanced abnormal children, and 10 abortions.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00273309
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  • 18
    Electronic Resource
    Electronic Resource
    On the Approximation of Certain Mass Distributions Appearing in Distance Geometry (2000)
    Springer
    Acta mathematica hungarica 87 (2000), S. 295-316 
    Details
    ISSN: 1588-2632
    Source: Springer Online Journal Archives 1860-2000
    Topics: Mathematics
    Notes: Abstract Let X be a compact subset of the n-dimensional Euclidean space R n . A theorem of G. Björck implies the existence of a unique probability measure μ0 which maximizes the value ∫ X ∫ X d 2(x, y) dμ(x) dμ(y), where μ ranges over all probability measures on X and d 2 denotes the Euclidean distance on R n . In this paper we introduce and investigate an algorithm which is easy to describe and which inductively constructs a sequence ω = x 1, x 2,... in X such that ω is uniformly distributed with respect to μ0. Geometrical and topological interpretations and applications, and concrete numerical examples are given.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1023/A:1006773702255
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  • 19
    Electronic Resource
    Electronic Resource
    Ionenselektive Coated Glass-Elektroden (1979)
    Springer
    Fresenius' Zeitschrift für analytische Chemie 299 (1979), S. 115-118 
    Details
    ISSN: 1618-2650
    Keywords: Elektroden, ionenselektive ; coated glass, Carrier-PVC-Membran, Na, K, NH4, Ca
    Source: Springer Online Journal Archives 1860-2000
    Topics: Chemistry and Pharmacology
    Description / Table of Contents: Zusammenfassung Na+-, K+-, NH 4 + - und Ca2+ selektive coated glass-Elektroden wurden entwickelt, bei denen eine ionenselektive Carrier-PVC-Membran auf eine ionenselektive Glasschicht aufgebracht wird, die über einen Innenelektrolyten mit der Ableitelektrode in Verbindung steht. Die Selektivität wird durch die aufgebrachte Carrier-PVC-Membran bestimmt, die zusätzlich Weichmacher zur Optimierung der Eigenschaften enthält.
    Notes: Summary Na+, K+, NH 4 + and Ca2+ selective electrodes have been developed by coating the ion-selective glass layer with a carrier PVC membrane. The glass is in contact with the conducting electrode through an inner electrolyte. The selectivity is determined by the PVC membrane, containing neutral carriers or electrically charged ligands and additionally plasticizers for optimizing the properties.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00518421
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  • 20
    Electronic Resource
    Electronic Resource
    Simple device to monitor aerobic biotransformations by in situ 1H-NMR (2000)
    Springer
    Biotechnology letters 22 (2000), S. 1135-1141 
    Details
    ISSN: 1573-6776
    Keywords: aerobic biotransformations ; in situ 1H-NMR ; 1H-NMR in 1H2O
    Source: Springer Online Journal Archives 1860-2000
    Topics: Process Engineering, Biotechnology, Nutrition Technology
    Notes: Abstract A simple device for taking in situ proton NMR measurements in 1H2O is described. This allows aeration of reactions in a 10 mm diameter NMR tube without modifying the magnet or the probe head. With this device, aerobic biotransformations can be monitored in the NMR-tube placed in the spectrometer. It allows in situ analyses of the transformations, separating the aeration period temporally from the measurement time, not unlike traditional Warburg respiratory experiments. Two reactions determining kinetic and stoichieometric parameters: (i) a biotransformation by a growing Pseudomonas putida culture and (ii) l-phenylalanine oxidation catalysed by l-amino acid oxidase [E.C. 1.4.3.2]; both incubations were contained in the magnet.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1023/A:1005664400918
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