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  • 1
    Electronic Resource
    Electronic Resource
    Zur teratogenen Wirkung von 6-Amino-nicotinsäureamid bei Kaninchen nach Injektion in den Dottersack (1974)
    Springer
    Anatomy and embryology 145 (1974), S. 67-73 
    Details
    ISSN: 1432-0568
    Keywords: 6-Amino-nicotinsäureamid ; Intravitelline injection ; Malformations ; Rabbit
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Es wurde eine Technik entwickelt, mit der Agentien durch Applikation in den Dottersack auf ihre teratogene Wirkung überprüft werden können. 6-Amino-nicotinsäureamid (6-ANA) wurde Kaninchen (weißen Neuseeländerinnen) am 9. Tag der Gestation in die Keimanlagen (Dottersack) einer Seite des Uterus bicornis injiziert. Auf der anderen Seite wurde physiologische Kochsalzlösung als Lösungsmittelkontrolle gespritzt. Am 28. Tag der Gestation wurden die Muttertiere laparatomiert und der Uterus eröffnet. Die Feten wurden auf Mißbildungen untersucht und Resorptionen registriert. An Mißbildungen traten auf: Mikrophtalmie, Hydrocephalus, Schädelmißbildungen, Ektopie innerer Organe, Klumpfuß und Skeletfehlbildungen im Sinne des Wirbel-Rippen-Syndroms. In den Versuchsserien stieg die Resorptions- und Mißbildungsrate mit höher werdender Dosis an. Das Mißbildungsspektrum blieb unverändert.
    Notes: Summary A technique was developed for the application of agents into the yolk sac to study their teratogenic effects. 6-amino-nicotinamide (6-ANA) was injected into the yolk sac on one side of the uterus bicornis of rabbits (white New Zealand) on the ninth day of gestation. As a control a physiological salt solution was injected into the other side. On the 28th day of gestation the pregnant animals were laparotomised and the uterus opened. The fetuses were examined for malformations and resoption were counted. The following malformations occurred: microphtalmia, hydrocephalus, skull malformations, ectopia of the inner organs, club foot and malformations of the skeletal system in form of the “Wirbel-Rippen-Syndrom.” In this series of experiments both the rate of resorption and the rate of malformations rose with increased dosage. The spectrum of malformations was not influenced.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00519126
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  • 2
    Electronic Resource
    Electronic Resource
    Correlation of birth weight and crown-rump to the number of implantations and litter size in rabbits (1977)
    Springer
    Anatomy and embryology 151 (1977), S. 91-95 
    Details
    ISSN: 1432-0568
    Keywords: Rabbit ; Birth weight ; Litter size ; Implantation ; Growth
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary The empirical coefficient of correlation and the empirical coefficient of regression were evaluated in New Zealand White rabbits between birth weight and crown-rump on the one hand and number of implantations and litter size on the other. The average birth weight decreases with increasing litter size (P=0.01). The decreased supply of blood to the single fetus in big litters might be responsible for this result. As no definite correlation between crown-rump and litter size could be proved, the conclusion may be drawn that the crown-rump is more determined by genetic factors than is the birth weight.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00315301
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  • 3
    Electronic Resource
    Electronic Resource
    Rapid detection of trisomy 21 by quantitative PCR (1993)
    Springer
    Human genetics 〈Berlin〉 91 (1993), S. 567-570 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Chromosomal aneuploidy is a major cause of fetal loss and genetic disease. We have devised a polymerase chain reaction (PCR)-based test that allows prenatal detection of trisomy 21 in as few as 15 fetal cells within 1 day. A pair of fluorescein-tagged primers directs amplification of a 216-bp fragment of the human S100B gene on chromosome 21. Primers that direct amplification of a 165-bp fragment of the IGF1 gene on chromosome 12 are included to generate an internal standard for quantitation. After 31 cycles of PCR, the amounts of S100B and IGF1 amplification products are determined on an Automated Laser Fluorescent DNA Sequencer. In trisomic cells, the relative amount of the S100B product is approximately 1.5-fold higher than that from normal cells. The test may be useful for non-invasive prenatal diagnosis performed on fetal cells isolated from maternal blood.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00205081
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  • 4
    Electronic Resource
    Electronic Resource
    Determination of the origin of single nucleated cells in maternal circulation by means of random PCR and a set of length polymorphisms (1997)
    Springer
    Human genetics 〈Berlin〉 99 (1997), S. 266-270 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Non-invasive prenatal diagnosis on fetal nucleated erythrocytes from the maternal circulation is hampered by the small number of nucleated erythrocytes and the uncertainty as to whether they are of fetal or maternal origin. To overcome the latter limitation, single nucleated erythrocytes were separated and enriched from maternal blood by a triple density gradient and a monoclonal antibody (CD71) in combination with a magnetic activated cell sorter. Single nucleated cells were microscopically examined, individually collected with extended Pasteur pipettes, and each transferred into separate caps for the polymerase chain reaction (PCR). The DNA of the single nucleated erythrocytes was amplified at least 50-fold with a random PCR technique, viz., primer extension preamplification. Precise differentiation between maternal and fetal nucleated erythrocytes was achieved via PCR by using primers flanking highly polymorphic nucleotide repeats (D1S53, ACTBP2 and D21S11) and with a XY-specific primer pair (amelogenin). A total of 134 putative nucleated erythrocytes were analyzed from blood samples of 19 pregnant women. With the help of the polymorphic repeats, 25% were assigned as being of maternal origin, 26% of fetal origin, and 48% were uninformative. In cases with male fetuses, the amelogenin primers revealed 30% of cells to be fetal nucleated erythrocytes, the remaining 70% being of maternal origin. The results indicate that the combination of random PCR and PCR-mediated polymorphism analysis on the DNA of single nucleated erythrocytes is a useful technique for non-invasive prenatal diagnosis.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004390050351
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  • 5
    Electronic Resource
    Electronic Resource
    Detection of APC region-specific signals by nonisotopic chromosomal in situ suppression (CISS)-hybridization using a microdissection library as a probe (1991)
    Springer
    Human genetics 〈Berlin〉 87 (1991), S. 495-497 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The chromosome region 5q22 harbouring the putative gene associated with adenomatous polyposis coli (APC) was microdissected and microcloned from GTG-banded human metaphase chromosomes. In order to determine the precise regional localization of the microdissected material, we used polymerase chain reaction amplified microclones as a bulk-probe in nonradioactive chromosomal in situ suppression hybridization of human metaphase spreads. Specific in situ hybridization signals were obtained on the long arm of chromosome 5 in accordance with the chromosomal region excised for the cloning procedure. The application of this detection system should provide a rapid and powerful tool for analyzing patients with translocations or microdeletions of a given chromosome region.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00197175
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  • 6
    Electronic Resource
    Electronic Resource
    Exclusion of chromosomal mosaicism in prenatal diagnosis (1984)
    Springer
    Human genetics 〈Berlin〉 67 (1984), S. 23-28 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary For use in prenatal diagnosis, tables were prepared giving the number of metaphases or clones, respectively, which must be analysed in order to detect fetal mosaicism of a given degree (=percentage of the aberrant cell population) or higher with at least 95% or 99% probability. Different tables are provided for the two techniques of chromosomal preparation: the colony method and the flask method.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00270553
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  • 7
    Electronic Resource
    Electronic Resource
    Cloning defined regions of the human genome by microdissection of banded chromosomes and enzymatic amplification (1989)
    [s.l.] : Nature Publishing Group
    Nature 338 (1989), S. 348-350 
    Details
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] We have isolated probes for the Langer-Giedion syndrome chromosome region (8q24.1) (refs 13,14). Deletion of a set of unknown genes within this region leads to sparse hair, lax skin, bulbous nose, cone-shaped epiphyses, multiple cartilaginous exostoses and mental retardation15. Using an ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/338348a0
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  • 8
    Electronic Resource
    Electronic Resource
    Microdissection of banded human chromosomes (1990)
    Springer
    Human genetics 〈Berlin〉 84 (1990), S. 507-511 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Physical dissection of metaphase chromosomes is the most straightforward approach for the isolation of DNA sequences from specific chromosome regions. However, conventional microdissection techniques are too crude and inefficient for analysis of the human genome. Here we describe a technique for the precise dissection of single bands from GTG-banded chromosomes. Cells from normal amniotic fluid cell cultures are harvested by the pipette method. Microdissection is performed on an inverted microscope (magnification 1250 x) with the help of extended siliconized glass needles and an electronically controlled micromanipulator. Enzymatic amplification of the dissected DNA allows the construction of band-specific DNA libraries from as few as 20 dissected chromosome fragments.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00210799
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  • 9
    Electronic Resource
    Electronic Resource
    Construction and characterization of band-specific DNA libraries (1990)
    Springer
    Human genetics 〈Berlin〉 84 (1990), S. 512-516 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary A universally primed polymerase chain reaction was developed to amplify DNA dissected from GTG-banded human chromosomes. The amplification products are cloned into plasmid vectors, which allow the rapid characterization of recombinant clones. Starting from 20–40 chromosome fragments, several thousand independent clones detecting single-copy sequences can be obtained. Although these libraries comprise only a few percent of the dissected DNA, they provide narrowly spaced anchor clones for the molecular characterization of chromosome bands and the identification of gene sequences. Here we describe the construction and characterization of DNA libraries for the Langer-Giedion syndrome chromosome region (LGCR, 8q23–24.1), Wilms tumor chromosome region 1 (WT1, 11p13), Prader-Willi syndrome/Angelman syndrome chromosome region (PWCR/ANCR, 15q11.2–12), meningioma chromosome region (MGCR, 22q12–13), and fragile X chromosome region (FRAXA, Xq27.3).
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00210800
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  • 10
    Electronic Resource
    Electronic Resource
    The pipette method: A new rapid technique for chromosome analysis in prenatal diagnosis (1980)
    Springer
    Human genetics 〈Berlin〉 54 (1980), S. 277-278 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary A new method has been developed to abridge the time between amniocentesis and chromosome analysis in prenatal diagnosis. With this method cells in metaphase are separated from the clones by a micropipette with the help of a micromanipulator and then prepared.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00278985
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