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  • 1
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 100 (1997), S. 515-519 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract  The nm23-H1 gene has been suggested to be a metastasis suppressor gene. Studies about the events of loss of heterozygosity (LOH) at the nm23 locus and its correlation to metastasis are controversially discussed. To optimize detection of LOH at the nm23 locus, we screened two P1 clones for additional microsatellites. Tumor and normal DNA from 37 colorectal, 16 gastric, and 8 germ cancer patients were examined for LOH. We found two new CA repeats, one 5′ to nm23-H1 and another 3′ to nm23-H2. Using these nm23 locus-specific CA repeats and five other chromosome 17 loci (D17S1522, D17S1566, D17S855, D17S515, and TP53), allele loss was observed in 4/32 (12.5%) patients with colon cancer, 2/14 (14.3%) with gastric cancer, and 1/7 (14%) with germ cancer. No isolated LOH of the nm23 region was observed.
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  • 2
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 100 (1997), S. 520-524 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract X-linked keratosis follicularis spinulosa decalvans (KFSD) is a rare disorder affecting both skin and eyes. In the two extended KFSD families analysed to date, the gene was mapped to Xp22.13–p22.2. By analyzing several new markers in this region, we were able to narrow the candidate region to a 1-Mb interval between DXS7161 and (DXS7593, DXS7105) in the large Dutch pedigree. In addition, we analyzed 23 markers in Xp21.2– p22.2 in a German family with KFSD. Haplotype and recombination analysis positioned the KFSD gene in this family most likely outside the candidate region on Xp22.13–p22.2. This finding is suggestive for genetic heterogeneity: in this pedigree there is either another locus on the X-chromosome, or KFSD is transmitted here as an autosomal dominant trait with variable expression.
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  • 3
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 1 (1965), S. 383-387 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Description / Table of Contents: Zusammenfassung In den Erythrocyten, Leukocyten und Blutplättchen von drei jugendlichen Patienten aus zwei Familien mit den typischen Symptomen einer familiären Panmyelopathie (Typ Fanconi) wurde ein Mangel der Hexokinase, des begrenzenden glykolytischen Enzyms, gefunden. Daneben zeigte das Enzymprotein erheblich herabgesetzte Affinitäten zu seinen Substraten Glucose und Adenosin-Triphosphat. Die Folge des Hexokinasedefektes war eine Drosselung der glykolytischen Durchflußraten und der Bildung von energiereichen Phosphaten, die für die verkürzte Lebensdauer der Blutzellen verantwortlich gemacht wird. Die Beziehungen zu den bei diesen Patienten anderorts gefundenen Chromosomenaberrationen werden diskutiert.
    Notes: Abstract In the erythrocytes, leucocytes, and blood platelets of three juvenile male patients from two families with the typical symptoms of familial panmyelopathy (type Fanconi) a defect of hexokinase, the rate limiting glycolytic enzyme, was found. Moreover the enzyme protein showed considerably diminished affinities for its substrates glucose and adenosine triphosphate. As a result of the hexokinase deficiency glycolytic turnover rates and formation of energy rich phosphates were lowered, the latter of which seems to be responsible for the shortened red cell life span. The relations between these metabolic disorders and the chromosomal defects found in these patients are discussed.
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  • 4
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 1 (1965), S. 388-389 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Serum β-lipoprotein content after Heiskell et al. and Lp(a) type were determined and compared for 258 healthy unrelated adults. The mean β-lipoprotein content was found to be significantly greater (255,2 mg-%) in Lp(a+) sera than in Lp(a-) sera (217,9 mg-%).
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  • 5
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 1 (1965), S. 392-394 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Type of Medium: Electronic Resource
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  • 6
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 1 (1965), S. 390-391 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Among 67 monozygotic twin pairs, 14 and 6 per second positive spikes were found concordantly in the sleeping EEG of 15 pairs, whereas 52 pairs showed negative concordance. Among 62 dizygotic twin pairs positive concordance could only be found in 3 pairs, while 44 pairs showed negative concordance, and 15 pairs were discordant.
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  • 7
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 1 (1965), S. 396-396 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Type of Medium: Electronic Resource
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  • 8
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 1 (1965), S. 395-395 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Type of Medium: Electronic Resource
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  • 9
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 1 (1965), S. 397-413 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Type of Medium: Electronic Resource
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  • 10
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 1 (1965), S. 414-422 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Type of Medium: Electronic Resource
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