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  • 1
    Electronic Resource
    Electronic Resource
    A 47,XXY female with unusual genitalia (1992)
    Springer
    Human genetics 〈Berlin〉 90 (1992), S. 346-349 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract A 47,XXY karyotype was found in a 6-year-old girl. The patient had female external genitalia, clitoromegaly, remnants of the ductus mesonephricus, uterus, and gonads in the labia majora which were determined to be testes by histology. Cytogenetic and DNA analyses suggest that the Y chromosome had a normal structure and that both X chromosomes were of maternal origin. The unusual clinical findings in the patient are discussed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00220456
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  • 2
    Electronic Resource
    Electronic Resource
    Fragile site (16) (q22) (1992)
    Springer
    Human genetics 〈Berlin〉 89 (1992), S. 612-614 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The rare autosomal fragile site, fra (16)(q22), is the most common of all rare autosomal fragile sites and has a heterozygote frequency of about 5%. Evidence for it was found following the segregation expected from a simple codominant trait with complete penetrance; this is in contrast to a variety of other rare autosomal fragile sites. Based on the analysis of 12 families in which fra (16)(q22) is segregating, we found that, whereas complete penetrance could be confirmed, the transmitting parent was significantly more likely to be of the female sex. On the other hand, there was no evidence for preferential transmission to offspring of either sex.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00221948
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  • 3
    Electronic Resource
    Electronic Resource
    Characterization of centromere arrangements and test for random distribution in G0, G1, S, G2, G1, and early S′ phase in human lymphocytes (1992)
    Springer
    Human genetics 〈Berlin〉 88 (1992), S. 673-682 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The arrangement of centromeres, cluster formation and association with the nucleolus and the nuclear membrane were characterized in human lymphocytes during the course of interphase in a cell-phase-dependent manner. We evaluated 3 893 cell nuclei categorized by five parameters. The centromeres were visualized by means of indirect immunofluorescent labeling with anti-centromere antibodies (ACA) contained in serum of patients with CREST syndrome. The cell nuclei were classified as G0, G1, S, G2, Gl1′ and early S′ phase by comparing microscopically identified groups of cell nuclei with flow cytometric determination of cell cycle stage of synchronized and unsynchronized lymphocyte cell cultures. Based on a discrimination analysis, a program was devised that calculated the probability for any cell nucleus belonging to the G0, G1, S, G2, G1′ and early S′ phase using only two microscopic parameters. Various characteristics were determined in the G0, S, and G2 stages. A transition stage to S phase within G1 was detected. This stage shows centromere arrangements not repeated in later cell cycles and which develop from the dissolution of centromere clusters in the periphery of the nucleus during G0 and G1. S phase exhibits various non-random centromere arrangements and associations of centromeres with the nucleolus. G1′ and early S′ phase of the second cell cycle display no characteristic centromere arrangement. The duplication of centromeres in G2 is asynchronous in two phases. For all cell phases a test for random distribution of the centromeres in the cell nucleus was performed. There is a distinct tendency for centromeres to be in a peripheral position during Go and G1; this tendency becomes weaker in S phase. Although the visual impression is a seemingly random distribution of centromeres in G2 and G1′ statistical analysis still demonstrates a significant deviation from random distribution in favor of a peripheral location. Only the early S phase of the second cell cycle shows no significant deviation from a random distribution.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02265296
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  • 4
    Electronic Resource
    Electronic Resource
    Amplification of (GACA)n simple repeats in an exceptional 14p+ marker chromosome (1994)
    Springer
    Human genetics 〈Berlin〉 93 (1994), S. 375-382 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract An inherited 14p+ marker chromosome with an unusually large differentially staining region (DSR) on the short arm was examined with a number of banding techniques and by non-radioactive in situ hybridization using various repetitive DNA probes. The increase in the size of this variant chromosome was 40% that of a normal chromosome 14. The extra chromosomal material in the DSR consisted mainly of GC-rich constitutive heterochromatin within which two equally sized clusters of 18S + 28S ribosomal RNA genes were located. In situ hybridization demonstrated that the DNA in the DSR was highly enriched in simple tetrameric (GACA) n sequences, whereas the centromeric alphoid sequences and the (TTAGGG) n telomeric repeats were not amplified. Silver staining of the two nucleolus organizer regions (NORs) within the DSR showed that the telomerically located NOR was always more active than the paracentromerically located NOR. A comparison with other DSRs found in human acrocentric autosomes revealed a gradient of transcriptional activity of adjacent multiple NORs. This gradient decreased in the order of their telomeric-paracentromeric-interstitial position, regardless on which acrocentric chromosome the DSR was located.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00201661
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  • 5
    Electronic Resource
    Electronic Resource
    Organization of the Y chromosome in testis cells of fetal, subadult and adult mice as determined by in situ hybridization (1993)
    Springer
    Chromosoma 102 (1993), S. 618-622 
    Details
    ISSN: 1432-0886
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract In order to reveal the time-course of decondensation of the Y chromosome in Sertoli cells, testes preparations of fetal, subadult and adult laboratory mice in different developmental stages were hybridized in situ with biotinylated probe pY353/B, which binds along the entire long arm of the mouse Y chromosome. All fetal and subadult testicular cells exhibited tightly compacted hybridization signals, indicating highly condensed Y chromosomes. Diffuse signals, indicating decondensation of the Y chromosome were found for the first time in the structurally differentiated Sertoli cells of 35 to 40 day old animals. Since this coincides with the appearance of mature sperm nuclei, a correlation between decondensation of the Y chromosome and its activity in sperm maturation and/or sperm motility can be presumed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00352309
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  • 6
    Electronic Resource
    Electronic Resource
    Sequence divergence of the murB and rrfB genes from Escherichia coli and Salmonella typhimurium (1994)
    Springer
    Archives of microbiology 161 (1994), S. 501-507 
    Details
    ISSN: 1432-072X
    Keywords: Key words:Escherichia coli–Salmonella typhimurium–murB–rrfB– Repetitive extragenic palindrome – Evolution – Mutation rate
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract. The murB gene of Salmonella typhimurium was cloned and found to be 75% and 82% identical to the DNA and protein sequences, respectively, of the same gene in Escherichia coli. These identities are among the lowest recorded between the two bacteria. Nevertheless, wild-type S. typhimurium murB complemented the known temperature-sensitive E. coli mutant, and wild-type E. coli murB complemented three temperature-sensitive mutants of S. typhimurium. The 5S rRNA gene, rrfB, and the region between murB and rrfB were also cloned and sequenced. The rrfB gene of S. typhimurium differs from rrfB of E. coli in only 2 of 120 nt, but the region between murB and rrfB has diverged greatly and includes a sequence that closely resembles a repetitive extragenic palindrome of the type normally associated with E. coli. Previous comparisons of gene divergence have suggested that the chromosomal mutation rate is lower in the vicinity of the origin of replication. However, the S. typhimurium murB gene, located 6 map minutes from the origin of replication, is highly substituted at synonymous sites and the sequence between murB and rrfB is significantly modified as well. Thus, murB is an exception to the general observation that genes near the origin of replication show less divergence than do genes elsewhere in the bacterial chromosome.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00307771
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  • 7
    Electronic Resource
    Electronic Resource
    Anti-inflammatory activity of hamamelis distillate applied topically to the skin (1993)
    Springer
    European journal of clinical pharmacology 44 (1993), S. 315-318 
    Details
    ISSN: 1432-1041
    Keywords: Hamamelis ; Chamomile ; Hydrocortisone ; anti-inflammatory activity ; vehicle effects ; UV-erythema test ; cellophane tape stripping ; phosphatidyl choline
    Source: Springer Online Journal Archives 1860-2000
    Topics: Chemistry and Pharmacology , Medicine
    Notes: Summary The anti-inflammatory activity of hamamelis distillate has been evaluated with respect to drug concentration (0.64 mg/2.56 mg hamamelis ketone/100 g) and the effect of the vehicle (O/W emulsion with/without phosphatidylcholine (PC) in an experimental study. The effects were compared with those of chamomile cream, hydrocortisone 1% cream and 4 base preparations. Erythema was induced by UV irradiation and cellophane tape stripping of the horny layer in 24 healthy subjects per test. Skin blanching was quantified by visual scoring and chromametry. Drug effects were compared with one another and with an untreated control area, as well as with any action due to the vehicle. UV-induced erythema at 24 h was suppressed by low dose hamamelis PC-cream and hydrocortisone cream. Hydrocortisone appeared superior to both hamamelis vehicles, hamamelis cream (without PC) and chamomile cream. The latter preparation was also less potent than hamamelis PC-cream. Erythema 4 to 8 h after the stripping of the horny layer was suppressed by hydrocortisone (P≤0.05). Inflammation was also less pronounced following low dose hamamelis PC-cream and chamomile cream. Hamamelis PC-cream, however, appeared less potent than hydrocortisone. In general, visual scoring was more discriminatory than chromametry. The results have demonstrated an anti-inflammatory activity of hamamelis distillate in a PC-containing vehicle. A fourfold increase of drug concentration, however, did not produce an increase in activity.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00316465
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  • 8
    Electronic Resource
    Electronic Resource
    Defect Analysis in SiO〈sub〉2〈/sub〉/Si Structures by Electron Tunneling (1991)
    s.l. ; Stafa-Zurich, Switzerland
    Materials science forum Vol. 38-41 (Jan. 1991), p. 1331-1336 
    Details
    ISSN: 1662-9752
    Source: Scientific.Net: Materials Science & Technology / Trans Tech Publications Archiv 1984-2008
    Topics: Mechanical Engineering, Materials Science, Production Engineering, Mining and Metallurgy, Traffic Engineering, Precision Mechanics
    Type of Medium: Electronic Resource
    URL: http://www.tib-hannover.de/fulltexts/2011/0528/02/05/transtech_doi~10.4028%252Fwww.scientific.net%252FMSF.38-41.1331.pdf
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  • 9
    Electronic Resource
    Electronic Resource
    Chromosome banding in Amphibia (1991)
    Springer
    Chromosoma 101 (1991), S. 123-132 
    Details
    ISSN: 1432-0886
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract High-resolution replication banding patterns were induced in prometaphase and prophase chromosomes of Xenopus laevis by treating kidney cell lines with 5-bromodeoxyuridine (BrdU) and deoxythymidine (dT) in succession. Up to 650 early and late replicating bands per haploid karyotype were demonstrated in the very long prophase chromosomes. This permits an exact identification of all chromosome pairs of X. laevis. Late replicating heterochromatin was located by analysing the time sequence of replication throughout the second half of S-phase. Neither heteromorphic sex chromosomes nor sex chromosome-specific replication bands were demonstrated in the heterogametic ZW females of X. laevis. A detailed examination of the BrdU/dT-labelled prometaphases and prophases revealed that the X. laevis chromosomes can be arranged in groups of four (quartets), most of which show conspicuous similarities in length, centromere position, and replication pattern. This is interpreted as further evidence for an ancient allotetraploid origin of X. laevis.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00357062
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  • 10
    Electronic Resource
    Electronic Resource
    Chromosome banding in amphibia (1992)
    Springer
    Chromosoma 101 (1992), S. 284-292 
    Details
    ISSN: 1432-0886
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract A cytogenetic study performed on a population of the South American leptodactylid frog Eleutherodactylus maussi revealed multiple sex chromosomes of the X1X1X2X2♀/X1X2Y♂ (=XXAA♀/XXAY♂) type. The diploid chromosome number is 2n=36 in all females and 2n=35 in most males. The multiple sex chromosomes originated by a centric fusion between the original Y chromosome and a large autosome. In male meiosis the X1X2Y (=XXAY) multiple sex chromosomes form a classical trivalent configuration. E. maussi is the first species discovered in the class Amphibia that is distinguished by a system of multiple sex chromosomes. Only one single male was found in the population with 2n=36 chromosomes and lacking the Y-autosomal fusion. This karyotype (XYAA♂) is interpreted as the ancestral condition, preceding the occurrence of the Y-autosome fusion.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00346007
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