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  • 1
    Electronic Resource
    Electronic Resource
    PBDX is the XG blood group gene (1994)
    [s.l.] : Nature Publishing Group
    Nature genetics 8 (1994), S. 285-290 
    Details
    ISSN: 1546-1718
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Medicine
    Notes: [Auszug] We have identified the Xga antigen, encoded by the XG blood group gene, by employing rabbit polyclonal and mouse monoclonal antibodies raised against a peptide derived from the N-terminal domain of a candidate gene, referred to earlier as PBDX. In indirect haemagglutination assays, these ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/ng1194-285
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  • 2
    Electronic Resource
    Electronic Resource
    Cloning of PBDX , an MIC2 -related gene that spans the pseudoautosomal boundary on chromosome Xp (1994)
    [s.l.] : Nature Publishing Group
    Nature genetics 6 (1994), S. 394-400 
    Details
    ISSN: 1546-1718
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Medicine
    Notes: [Auszug] The pseudoautosomal boundaries are the interface between pseudoautosomal and sex chromosome–specific DNA sequences. We have isolated a gene, PBDX, from the human pseudoautosomal boundary region of Xp. The three exons at the 5′ end of PBDX are situated in the pseudoautosomal region ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/ng0494-394
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  • 3
    Electronic Resource
    Electronic Resource
    Sister chromatid exchange in cells metabolically coupled to Bloom's syndrome cells (1980)
    [s.l.] : Nature Publishing Group
    Nature 284 (1980), S. 72-74 
    Details
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] Lesch-Nyhan syndrome fibroblasts, deficient in hypoxanthine guanine phosphoribosyltransferase (HGPRT- cells), were co-cultivated with BS fibroblasts in hypoxanthine, aminopterin and thymidine (HAT)19 selective medium. In such conditions, the only HGPRT- cells to proliferate are those metabolically ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/284072a0
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  • 4
    Electronic Resource
    Electronic Resource
    Chromosome abnormalities of leukaemic B lymphocytes in chronic lymphocytic leukaemia (1980)
    [s.l.] : Nature Publishing Group
    Nature 283 (1980), S. 76-78 
    Details
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] In the first case, Se, multiple cell lines were obtained9 before the patient received chemotherapy or radiation. One of these lines, SeD, derived from splenic tissue, was shown to be derived from her leukaemic lymphocytes9. The modal number of chromosomes in line SeD was 48. This line's chromosome ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/283076a0
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  • 5
    Electronic Resource
    Electronic Resource
    Mongolism, Delayed Fertilization and Human Sexual Behaviour (1968)
    [s.l.] : Nature Publishing Group
    Nature 217 (1968), S. 516-518 
    Details
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] Decreasing frequency of coitus accompanying advancing age and prolongation of marriage, predisposing to delayed fertilization, may explain the correlation of increased incidence of mongol births with advancing maternal ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/217516a0
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  • 6
    Electronic Resource
    Electronic Resource
    Altered DNA ligase I activity in Bloom's syndrome cells (1987)
    [s.l.] : Nature Publishing Group
    Nature 325 (1987), S. 357-359 
    Details
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] DNA ligase I and DNA polymerase a are enzymes that function during DNA replication; DNA ligase II and DNA polymerase ft function during DNA repair13"19. Size heterogeneity has been reported for DNA ligase I (refs 13-15, 18, 19), but the physiological relationship between the multiple forms is ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/325357a0
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  • 7
    Electronic Resource
    Electronic Resource
    Xeroderma list (1981)
    [s.l.] : Nature Publishing Group
    Nature 291 (1981), S. 104-104 
    Details
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] SIR - The issues raised in Cairns's article "The origin of human cancers"1 and subsequent comments2 highlight the importance of studies of rare human disorders as models for human carcinogenesis. In order to gain quantitative information on such questions as the frequency of cutaneous and internal ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/291104b0
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  • 8
    Electronic Resource
    Electronic Resource
    The chromosomal complement of blastomeres in Arbacia punctulata (1966)
    Springer
    Chromosoma 20 (1966), S. 195-201 
    Details
    ISSN: 1432-0886
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The diploid chromosomal complement of blastomeres of Arbacia punctulata is composed of 44 units. It includes two chromosomal pairs with distinctive structural features: the Nos. 1 which are long and subacrocentric, and the Nos. 2, somewhat shorter and submediocentric. The remaining short chromosomes, although structurally similar to each other, may be divided into three recognizable groups.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00335207
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  • 9
    Electronic Resource
    Electronic Resource
    Autoradiographic studies of human chromosomes (1971)
    Springer
    Chromosoma 35 (1971), S. 99-110 
    Details
    ISSN: 1432-0886
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Certain differences in the location of chromosomal material completing DNA synthesis late in the S-period of the cell cycle were demonstrated when a comparison was made between human blood lymphocytes and epithelial cells derived from term amnion grown in vitro for short periods of time. The differences in the patterns of synthesis between these two differentiated diploid cells, each from the same species but of different embryonic origins (mesodermal vs. ectodermal), functions in vivo, and appearances and growth characteristics in vitro, may be reflections of distinctive patterns of condensed interphase chromatin, i.e. a characteristic distribution of heterochromatin, and possibly also of different cellular functions in the organisms.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00344685
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  • 10
    Electronic Resource
    Electronic Resource
    Abnormalities of human sex chromosomes (1974)
    Springer
    Human genetics 〈Berlin〉 21 (1974), S. 301-308 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Description / Table of Contents: Zusammenfassung Die cytogenetische Untersuchung eines Paares eineiiger, geistig zurückgebliebener Zwillinge mit dem Chromosomenstatus 48,XXXY wird dargestellt; bei dem einen Paarling konnten außerdem ausgedehnte klinische und endokrinologische Studien durchgeführt werden. Außerdem wurden die genetischen und klinischen Merkmale der 30 bekannten Fälle mit 48,XXXY dargestellt und mit denen von Patienten mit 47,XXY und mit 49,XXXXY verglichen. Bei Fällen mit 47,XXY ist das mütterliche Alter deutlich erhöht; bei 48,XXXY ist es eindeutig, aber nur leicht erhöht; es sieht so aus, als ob es für 49,XXXXY überhaupt nicht erhöht wäre. Defekte der Entwicklung, die dem Typ nach ähnlich sind, scheinen dem Ausmaß nach desto mehr ausgeprägt zu sein, je mehr X-Chromosomen zusätzlich bei dem normalen männlichen Chromosomensatz vorhanden sind. 47,XXY Individuen können entweder schwachsinnig sein oder eine normale Intelligenz haben; dagegen zeigten alle Fälle mit 48,XXXY und 49,XXXXY einen schweren Schwachsinn. Es wird die interessante Frage aufgeworfen, ob die Zwillingshäufigkeit bei Poly X-Männern erhöht ist.
    Notes: Summary The cytogenetic study of a pair of identical, mentally-retarded twins with the chromosome complement 48,XXXY is reported, along with extensive clinical and endocrinological studies of one twin. The genetic and clinical features of 30 reported 48,XXXY individuals were summarized and compared to those of 47,XXY and 49,XXXXY individuals. For 47,XXY the mean maternal age clearly is increased; for 48,XXXY it appears definitely but only slightly increased; and for 49,XXXXY it may not be increased at all. Developmental defects, similar in type, appear to be progressively more marked when an additional 1, 2, or 3 X chromosomes are added to the normal male chromosome complement. 47,XXY individuals may be either normal in intelligence or mentally retarded, whereas severe mental retardation has been present in all those with the complements 48,XXXY and 49,XXXXY. The interesting suggestion of increased twining associated with poly-X male complements is noted.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00273367
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