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  • 1
    ISSN: 1546-1718
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Medicine
    Notes: [Auszug] A number of different eye disorders with the presence of early-onset glaucoma as a component of the phenotype have been mapped to human chromosome 6p25. These disorders have been postulated to be either allelic to each other or associated with a cluster of tightly linked genes. We have ...
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  • 2
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 38 (1977), S. 35-38 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary We present a classification for secondary constriction (qh) regions with C-banding technique in chromosomes 1,9, and 16 by means of comparing them to the short arm of chromosome 16. It is simple and convenient and can be used routinely. It can be incorporated into the modified Paris nomenclature system.
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  • 3
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 35 (1977), S. 233-235 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Long Y chromosomes in a relatively unbiased large sample of newborn infants were measured. The proportion of prior abortions was increased twofold in mothers of long Y infants compared to the control in the Caucasian sample. Our results indicate that an increased length of Y chromosome may be an important cause of fetal loss.
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  • 4
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Description / Table of Contents: Zusammenfassung Die Häufigkeit somatischer Chromosomenaberrationen wurde bei 522 Neugeborenen und 602 Müttern untersucht. Es wurden sowohl die Aberrationen pro Zelle bestimmt als auch pro Individuum in jeweils 10 Zellen. Alle Aberrationstypen (Gaps, Brüche, Fragmente, Strukturumbau) waren häufiger in mütterlichen Zellen. Die Bruchrate war bei Müttern 3mal höher als bei Neugeborenen. Nur 2 der Kinder hatten strukturelle Umbauten, im Vergleich zu 8 der Mütter (mehr als 1%). Angesichts der relativen Seltenheit von Chromosomenaberrationen in Neugeborenenzellen können Lymphocyten als ein geeigneter biologischer Dosimeter für die Überwachung menschlicher Populationen von Geburt an verwendet werden.
    Notes: Summary The frequency of somatic chromosomal aberrations was studied in 522 newborn infants and 602 mothers. Both the rates of aberrations on a per cell basis and the frequency of individuals with varying rates of aberrations were determined. All types of aberrations were more frequent in maternal cells, and the total chromosome break rate in mothers was three times higher than in neonates. Only 2 of the infants had structural rearrangements when 10 cells/newborn were analyzed, compared to 8, or more than 1%, of the mothers. In view of the relative rarity of chromosome aberrations in the neonatal cells, lymphocytes can be utilized as a convenient biological dosimeter for the surveillance of human populations from birth onwards.
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  • 5
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 13 (1971), S. 157-159 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Description / Table of Contents: Zusammenfassung Die Assoziation menschlicher akrozentrischer Chromosomen hat sich als nicht zufällig erwiesen. Es wurde die Fluorescenztechnik benutzt.
    Notes: Summary The association of human acrocentric chromosomes was found to be nonrandom using fluorescence technic. The occurrence of chromosomes D13-15 in Robertsonian rearrangement has been shown to be non-random (Hecht et al., 1968). Ohno et al. (1961) have postulated these rearrangements might be related to acrocentric association. In two studies (Nakagame, 1969; Shaw et al., 1969), however, a random distribution of the D group chromosomes in association was found by autoradiography in lymphocytes. The recently described fluorescence technic (Caspersson et al., 1971) permits a reliable identification of each of the 23 pairs and we would like to report the results of our re-examination of acrocentric association by this method.
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  • 6
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Seven dicentric bisatellited marker chromosomes, ascertained at amniocentesis, chorionic villus sampling, and in blood from an abnormal liveborn were characterized cytogenetically. All seven markers demonstrated brilliant bands by the DA/DAPI technique corresponding to C-band positive regions. Although some dicentric DA/DAPI-positive bisatellited markers have been identified as inverted duplicated 15s, recent literature has suggested that DA/DAPI lacks specificity for chromosome 15. Our evaluation of DA/DAPI-positive bisatellited marker chromosomes by in situ hybridization shows that some originate from chromosome 15 whereas DA/DAPI negative bisatellited markers may not be derived from 15. The morphological variations noted in our studies are discussed with respect to nomenclature.
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  • 7
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Fragile sites are nonrandom, heritable sites on chromosomes that can be induced to form gaps, breaks, and rearrangements under specific conditions. There is currently no established criterion to define a common fragile site. We applied seven published criteria to our data from three groups of subjects: (1) three pairs of like-sexed twins, (2) four unaffected von HippelLindau (VHL) family members, and (3) six patients affected with VHL disease. Substantial differences were present in the numbers of sites considered positive by these criteria. While some of this variability can be attributed to technical factors, our data illustrate the problems in comparing results from different studies to assess the significance of fragile sites. A recently published criterion is based upon the Poisson distribution. We found this criterion to be flawed in its presentation, and furthermore, the Poisson distribution did not provide an adequate approximation to our data. We propose here an alternative approach based upon the negative binomial distribution.
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  • 8
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The association between trisomy 21 and a high incidence of atrioventricular canal defects (AVCDs) indicates that a locus on chromosome 21 is involved in this congenital heart defect. We have investigated whether a genetic locus on chromosome 21 is also involved in familial nonsyndromic AVCDs. Short tandem repeat polymorphisms (STRPs) from chromosome 21 were used for linkage analysis of a family having multiple members affected with AVCDs. In this family, the gene for AVCDs is transmitted as an autosomal dominant with incomplete penetrance. The affected family members are nonsyndromic and have normal karyotypes. Two-point and multipoint linkage analyses produced significantly negative LOD scores for all informative markers. A comparison of the overlapping exclusion distances obtained for each marker at LOD equal -2.0 with the 1000:1 consensus genetic map of the markers, excludes chromosome 21 as the genetic location for AVCDs in this family. The exclusion of chromosome 21 indicates that another gene, not located on chromosome 21, is involved in atrioventricular canal defect formation.
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  • 9
    ISSN: 1432-0886
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The pericentric chromatin of chromosome 18 was found to be far more heterogeneous for restriction endonuclease AluI (5′ ··· AG ↓ CT···3′) than previously thought. The extent of such heterogeneity was characterized using 50 normal Caucasians and 5 cases of trisomy 18 or Edwards' Syndrome. The AluI-resistant chromatin can arbitrarily be classified into at least five sizes by comparison with the length of the short arm (p) of chromosome 18. They are: negative (1), small (2), medium (3), large (4) and very large (5) with incidences of 11.30%, 19.13%, 29.57%, 29.57% and 10.43%, respectively. In addition the location of the chromatin can be classified into four types depending upon the position relative to the primary constriction. For example: Type I (absent); Type II (present on p arm only); Type III (present on q arm only); Type IV (present on centromere and extending into both p and q arms). The incidences of types I, II, III, and IV were 11.30%, 62.61%, 0.87%, and 25.22%, respectively. Based on limited data, AluI-resistant chromatin was found to be predominantly “large” and “very large” in Edwards' Syndrome samples. In addition, no case with negative Alu-resistant chromatin was noted. Therefore, it is tempting to speculate that the amount of chromatin present on the centromere might play a role in non-disjunction in Edwards' Syndrome cases. Although the variation observed in the present study is continuous, the proposed classification has some important implications for future investigations.
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  • 10
    Publication Date: 1987-06-01
    Print ISSN: 0009-5915
    Electronic ISSN: 1432-0886
    Topics: Biology , Medicine
    Published by Springer
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