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  • 1990-1994  (3)
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  • 1
    Digitale Medien
    Digitale Medien
    Genotype-phenotype correlations in XX males and their bearing on current theories of sex determination (1990)
    Springer
    Human genetics 〈Berlin〉 84 (1990), S. 198-202 
    Details
    ISSN: 1432-1203
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Biologie , Medizin
    Notizen: Summary Clinical, chromosomal and molecular studies of a group of 15 XX males confirm the presence of two main groups. A Y+ve group of ten patients exhibit sex reversal as the result of transfer of the distal end of the short arm of the Y chromosome, including testis determining factors, to the short arm of one X-chromosome, presumably by accidental crossing-over in paternal meiosis. The ten patients have Klinefelter's syndrome but differ from XXY cases in that they are short and shown no impairment of intelligence. The four Y-ve XX males have no demonstrable Y sequences and differ from Y+ve cases in abnormality of the external genitalia and invariable gynaecomastia; in this, they more closely resemble XX true hermaphrodites than XY males. These observations on Y-ve XX males and an additional exceptional Y+ patient suggest that the ZFY locus is not essential for male differentiation and is not the primary testis determining factor. Male sex determination in sporadic, and familial Y-ve XX males and true hermaphrodites is likely to be the result of mutation in an X-linked TDF gene and its consequent escape from the constraints of X-inactivation. It seems premature to abandon the dosage model of sex determination on the recent evidence that ZFX does not show dosage compensation.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF00208942
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  • 2
    Digitale Medien
    Digitale Medien
    Physical mapping of chromosome 3p25-p26 by flourescence in situ hybridisation (FISH) (1993)
    Springer
    Human genetics 〈Berlin〉 92 (1993), S. 18-22 
    Details
    ISSN: 1432-1203
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Biologie , Medizin
    Notizen: Abstract As part of our effort to isolate and characterise the von Hippel-Lindau (VHL) disease gene, we constructed a physical map of chromosome 3p25-26 by fluorescence in situ hybridisation (FISH) studies on a panel of cytogenetic rearrangements involving this region. Biotinylated cosmid and lambda probes were hybridised to metaphase chromosome spreads and positioned with respect to each cytogenetic breakpoint. These studies unequivocally established the order of five loci linked to the VHL disease gene: cen-(RAF1,312)-D3S732-D3S1250-D3S601-D3S18-pter and determined the position of three other probes within this map. These results ordered RAF1 and D3S732 for the first time, confirmed the localisation of D3S1250 between RAF1 and D3S601 and determined the position of D3S651 with respect to other chromosome 3p25-p26 loci. The establishment of an ordered set of cytogenetic aberrations will enable the rapid assignment of polymorphic and nonpolymorphic cloned sequences within the chromosome region 3p25-p26.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF00216139
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  • 3
    Digitale Medien
    Digitale Medien
    A rearrangement on Chromosome 5 of an expressed human β-glucuronidase pseudogene (1994)
    Springer
    Mammalian genome 5 (1994), S. 791-796 
    Details
    ISSN: 1432-1777
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Biologie , Medizin
    Notizen: Abstract A novel transcript containing homology to exons 5, 9, 10, and 11 of the β-glucuronidase gene has been shown to be derived from Chromosome (Chr) 5. In situ hybridization analysis has shown that this transcript is homologous to four loci on Chr 5 (5p13.3, 5p15.1, 5q13.1, and 5q15), two loci on Chr 6 (6p11.2 and 6p21.3), and one on Chr 22 at 22q11.2. Analysis of cosmid clones from Chr 5 has defined three distinct contigs in which there are tandem genomic repeats of a unit containing sequences homologous to exons 5, 9, and 10 but not 11. Pulsed-field gel electrophoresis (PFGE) analysis has shown that the length of these repeats is highly variable between unrelated individuals, indicating that these regions of Chr 5 are prone to rearrangement. These sequences may be important with respect to stability around the Chr 5 centromere.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF00292015
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