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  • 1
    ISSN: 1520-4995
    Source: ACS Legacy Archives
    Topics: Biology , Chemistry and Pharmacology
    Type of Medium: Electronic Resource
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  • 2
    Electronic Resource
    Electronic Resource
    Springer
    Cellular and molecular life sciences 39 (1983), S. 1153-1155 
    ISSN: 1420-9071
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Heteromorphic sex chromosomes of the XY/XX-type were found in the karyotypes of the South American marsupial frogGastrotheca riobambae (Anura, Hylidae). The Y chromosome is considerably larger than the X chromosome and almost completely heterochromatic. The only nucleolus organizer region is localized in the X chromosome; this leads to a sex-specific difference in the number of nucleolus organizers. In the male meiosis, X- and Y chromosomes form a sex bivalent which can be readily distinguished from the autosomal bivalents.
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 1432-1793
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract The epibenthic megafauna of the high-Arctic Northeast Greenland shelf was investigated by means of seafloor photography and Agassiz trawl catches. At 54 stations in water depths between 40 and 770 m, sequences of color slides, each depicting about 1 m2 of the seafloor, were obtained along photographic transects of about 100 to 600 m length. The photographs were quantitatively analyzed for abundance of epibenthic organisms identified by comparison with specimens collected from trawl catches. Megabenthic biomass was estimated by multiplying density values with averge body mass figures. For five dominant brittle star species, the population oxygen uptake and, thus, organic carbon mineralization potential were approximated by applying individual respiration rates of average-sized specimens to density figures. Multivariate analyses of the megabenthic species distribution revealed a distinct depth zonation. Shallow shelf banks (〈150 m), characterized by coarse sediments, many stones and boulders as well as negative bottom water temperatures, housed a rich epifauna (30 to 340 ind m−2, 1.8 to 10.5 g AFDW m−2), strongly dominated (80 to 98% by numbers) by the brittle stars Ophiocten sericeum and Ophiura robusta. The oxygen uptake by brittle stars ranged from 0.4 to 95 μmol O2 m−2 h−1 (i.e., assuming a respiratory quotient of 0.8, an organic carbon mineralization of 0.1 to 21.9 mg C m−2 d−1). At the bank flanks sloping to the shelf troughs (100 to 580 m), finer sediments prevailed, stones were rare, and bottom water temperatures were positive due to the inflow of Atlantic water. Compared to bank sites, total epibenthic abundances as well as carbon mineralization by brittle stars were roughly ten times and total biomass about four times smaller. In deep shelf depressions as well as at the continental slope (200 to 770 m), stones were completely lacking, and sediments very fine. Epibenthic standing stock and carbon mineralization were one to two orders of magnitude lower than on the banks. The estimation of brittle star oxygen uptake indicates that a considerable portion of the organic carbon produced in the polynya and partitioned to the benthos may be remineralized by epibenthic bank assemblages.
    Type of Medium: Electronic Resource
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  • 4
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 90 (1992), S. 346-349 
    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
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  • 5
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Meiotic segregation of the sex chromosomes was analysed in sperm nuclei from a man with Klinefelter’s karyotype by three-colour FISH. The X- and Y-specific DNA probes were co-hybridized with a probe specific for chromosome 1, thus allowing diploid and hyperhaploid spermatozoa to be distinguished. A total of 2206 sperm nuclei was examined; 958 cells contained an X chromosome, 1077 a Y chromosome. The ratio of X : Y bearing sperm differed significantly from the expected 1 : 1 ratio (χ2 = 6.96; 0.001 〈 P 〈 0.01). Sex-chromosomal hyperhaploidy was detected in 2.67% of the cells (1.22% XX, 1.36% XY, 0.09% YY) and a diploid constitution in 0.23%. Although the frequency of 24,YY sperm was similar to that detected in fertile males, the frequencies of 24,XX, 24,XY and diploid cells were significantly increased. A sex-chromosomal signal was missing in 4.26% of the spermatozoa. This percentage appeared to be too high to be attributed merely to nullisomy for the sex chromosomes and was considered, at least partially, to be the result of superposition of sex-chromosomal hybridization signals by autosomal signals in a number of sperm nuclei. The results contribute additional evidence that 47,XXY cells are able to complete meiosis and produce mature sperm nuclei.
    Type of Medium: Electronic Resource
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  • 6
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 81 (1989), S. 137-143 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Centromere arrangement in interphase and metaphase cells of two human tumour cell lines was analysed using anti-kinetochore antibodies as immunofluorescent probes. In GLC1 interphase nuclei, kinetochores were non-randomly positioned around the nucleolus and close to the nuclear membrane. During S and early G2 phase, necklace-like strands of kinetochores were formed in the centre of the nucleus. The duplication of sister kinetochores during the G2 phase was not synchronized. At late G2 phase, a relatively random topological distribution of centromeres was observed with short linear arrays of sister kinetochores. Carefully spread metaphase plates of MDA-MB231 cells generally exhibited a linear alignment of centromeres and large centromeric clusters. In completely pulverized MDA-MB231 cells, centromeres showed a strong tendency to associate with each other.
    Type of Medium: Electronic Resource
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  • 7
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 89 (1992), S. 612-614 
    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
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  • 8
    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.
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  • 9
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 93 (1994), S. 375-382 
    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.
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  • 10
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The gene locus for cystinosis has been mapped between markers D17S1583 and D17S1584 on the short arm of chromosome 17. Using markers encompassing the cystinosis region, we assigned different yeast artificial chromosome (YAC) clones previously identified by sequence tagged site (STS) screening to 17p13.3. Three of the clones hybridized to the target 17p gene region; one of these was chimeric, hybridizing both to chromosomes 3p and 5q; two of the YACs did not contain sequences of 17p13.3. Our physical mapping has identified candidate YACs as a first step towards a positional cloning approach.
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