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  • 1
    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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  • 2
    Electronic Resource
    Electronic Resource
    Interstitial deletion of chromosome 6q: precise definition of the breakpoints by microdissection, DNA amplification, and reverse painting (1996)
    Springer
    Human genetics 〈Berlin〉 97 (1996), S. 705-709 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Routine chromosomal analysis using GTG-banding alone showed a mosaic terminal deletion of 6q in a 14-week-old boy with developmental retardation, facial anomalies, agenesis of corpus callosum, cleft palate, hypotonia, short neck and pterygium colli, and minor anomalies of hands and feet. Discrepancies between the clinical findings on our patient and those described in the literature on patients having terminal deletions led to a more precise analysis of the karyotype. Reverse painting was performed on normal G-banded metaphases for exact determination of the breakpoints and on metaphases of the patient for evaluation of mosaicism. A DNA library that was obtained by microdissection of three deleted chromosomes 6 was used as a painting probe. Subsequent DNA amplification was performed with the help of topoisomerase-pretreated degenerate oligonucleotide primers. Unexpectedly, the hybridization pattern on normal metaphase chromosomes revealed an interstitial deletion with breakpoints at 6q25.1 and 6q27 instead of a terminal deletion. Hybridization on metaphases of the patient showed one deleted chromosome 6 in all metaphases analyzed at a higher resolution rather than mosaicism as previously assumed [karyotype, 46,XY,del(6)(q25.1→q27)]. We assume that in the single cases of 6q– described in the literature the deletions are misclassified. This might be due to difficulties in distinguishing between interstitial and terminal deletions at 6q and in precisely defining chromosomal breakpoints after GTG-banding alone.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004390050123
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  • 3
    Electronic Resource
    Electronic Resource
    Interstitial deletion of chromosome 6q: Precise definition of the breakpoints by microdissection, DNA amplification, and reverse painting (1996)
    Springer
    Human genetics 〈Berlin〉 97 (1996), S. 705-709 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Routine chromosomal analysis using GTG-banding alone showed a mosaic terminal deletion of 6q in a 14-week-old boy with developmental retardation, facial anomalies, agenesis of corpus callosum, cleft palate, hypotonia, short neck and pterygium colli, and minor anomalies of hands and feet. Discrepancies between the clinical findings on our patient and those described in the literature on patients having terminal deletions led to a more precise analysis of the karyotype. Reverse painting was performed on normal G-banded metaphases for exact determination of the breakpoints and on metaphases of the patient for evaluation of mosaicism. A DNA library that was obtained by microdissection of three deleted chromosomes 6 was used as a painting probe. Subsequent DNA amplification was performed with the help of topoisomerase-pretreated degenerate oligonucleotide primers. Unexpectedly, the hybridization pattern on normal metaphase chromosomes revealed an interstitial deletion with breakpoints at 6825.1 and 6827 instead of a terminal deletion. Hybridization on metaphases of the patient showed one deleted chromosome 6 in all metaphases analyzed at a higher resolution rather than mosaicism as previously assumed karyotype, 46,XYdel(6)(g25.1→g27)]. We assume that in the single cases of 6q− described in the literature the deletions are misclassified. This might be due to difficulties in distinguishing between interstitial and terminal deletions at 6q and in precisely defining chromosomal breakpoints after GTG-banding alone.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02346176
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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
    Maternal origin of a de novo chromosome 8 deletion in a patient with Langer-Giedion syndrome (1989)
    Springer
    Human genetics 〈Berlin〉 82 (1989), S. 327-329 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The anonymous DNA probe L32, which defines the D8S48 locus within the Langer-Giedion syndrome chromosome region on the long arm of chromosome 8, was used to search for a common restriction fragment length polymorphism. A HindIII and an MspI polymorphism were detected (polymorphism information contents 0.25 and 0.19, respectively). Both polymorphisms were informative in the family of a Langer-Giedion patient carrying a de novo interstitial deletion 8q23-24.1. Lack of transmission of a maternal haplotype indicates that this deletion occurred during maternal gametogenesis. This finding contrasts with the frequent paternal origin of mutations in other microdeletion syndromes.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00273991
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  • 6
    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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  • 7
    Electronic Resource
    Electronic Resource
    Decreased plasma membrane fluidity of peripheral blood lymphocytes after diethyldithiocarbamate (DTC) therapy in HIV-infected patients (1989)
    Springer
    European journal of clinical pharmacology 37 (1989), S. 521-523 
    Details
    ISSN: 1432-1041
    Keywords: diethyldithiocarbamate (DTC) ; human immunodeficiency virus (HIV) ; plasma membrane fluidity ; fluorescence anisotropy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Chemistry and Pharmacology , Medicine
    Notes: Summary In seeking the putative mechanism of action of diethyldithiocarbamate (DTC) on the immune status of HIV infected patients, the plasma membrane fluidity of peripheral blood lymphocytes (PBL) from DTC-treated and untreated patients (CDC III-IVc1) was determined. Anisotropy values of the fluorescent probe 6-(9-anthroyloxy) stearic acid were increased in DTC-treated patients (0.175 vs 0.161), indicating decreased PBL plasma membrane fluidity. The membrane rigidifying effect was significantly greater 4 h after i.v. drug administration (0.185 in treated patients). As the membrane fluidity and the function of membrane embedded antigen are interdependent, it is possible that alterations in biophysical and/or biochemical properties of membranes may account for the beneficial effect of DTC on the immune function and clinical status of HIV infected patients.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00558135
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  • 8
    Electronic Resource
    Electronic Resource
    Functional-join processing (2000)
    Springer
    The VLDB journal 8 (2000), S. 156-177 
    Details
    ISSN: 0949-877X
    Keywords: Key words:Object identifier – Logical OID – Physical OID – Query processing – Pointer join – Functional join – Order-preserving join
    Source: Springer Online Journal Archives 1860-2000
    Topics: Computer Science
    Notes: Abstract. Inter-object references are one of the key concepts of object-relational and object-oriented database systems. In this work, we investigate alternative techniques to implement inter-object references and make the best use of them in query processing, i.e., in evaluating functional joins. We will give a comprehensive overview and performance evaluation of all known techniques for simple (single-valued) as well as multi-valued functional joins. Furthermore, we will describe special order-preserving\/ functional-join techniques that are particularly attractive for decision support queries that require ordered results. While most of the presentation of this paper is focused on object-relational and object-oriented database systems, some of the results can also be applied to plain relational databases because index nested-loop joins\/ along key/foreign-key relationships, as they are frequently found in relational databases, are just one particular way to execute a functional join.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s007780050002
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  • 9
    Electronic Resource
    Electronic Resource
    Exploiting early sorting and early partitioning for decision support query processing (2000)
    Springer
    The VLDB journal 9 (2000), S. 190-213 
    Details
    ISSN: 0949-877X
    Keywords: Key words: Decision Support Systems – Query processing and optimization – Early sorting and partitioning – Hash joins and hash teams – Performance evaluation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Computer Science
    Notes: Abstract. Decision support queries typically involve several joins, a grouping with aggregation, and/or sorting of the result tuples. We propose two new classes of query evaluation algorithms that can be used to speed up the execution of such queries. The algorithms are based on (1) early sorting and (2) early partitioning– or a combination of both. The idea is to push the sorting and/or the partitioning to the leaves, i.e., the base relations, of the query evaluation plans (QEPs) and thereby avoid sorting or partitioning large intermediate results generated by the joins. Both early sorting and early partitioning are used in combination with hash-based algorithms for evaluating the join(s) and the grouping. To enable early sorting, the sort order generated at an early stage of the QEP is retained through an arbitrary number of so-called order-preserving hash joins. To make early partitioning applicable to a large class of decision support queries, we generalize the so-called hash teams proposed by Graefe et al. [GBC98]. Hash teams allow to perform several hash-based operations (join and grouping) on the same attribute in one pass without repartitioning intermediate results. Our generalization consists of indirectly partitioning the input data. Indirect partitioning means partitioning the input data on an attribute that is not directly needed for the next hash-based operation, and it involves the construction of bitmaps to approximate the partitioning for the attribute that is needed in the next hash-based operation. Our performance experiments show that such QEPs based on early sorting, early partitioning, or both in combination perform significantly better than conventional strategies for many common classes of decision support queries.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s007780000030
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  • 10
    Electronic Resource
    Electronic Resource
    Reaction Bonding of Three-Layer Alumina-Based Composites (1999)
    Springer
    Journal of materials synthesis and processing 7 (1999), S. 195-203 
    Details
    ISSN: 1573-4870
    Keywords: Reaction bonding ; alumina ; mullite ; layered composites ; residual stresses
    Source: Springer Online Journal Archives 1860-2000
    Topics: Mechanical Engineering, Materials Science, Production Engineering, Mining and Metallurgy, Traffic Engineering, Precision Mechanics
    Notes: Abstract Three-layer alumina-based composites with Al2O3-containing mullite as the outer layer and ZrO2-containing alumina as the inner layer were fabricated by die-pressing and reaction bonding. The effects of the outer-layer compositions on the densification behavior of three-layer composites were investigated. The existence of residual stresses in the layers was verified using indentation methods. Compared with single-layer ceramics, three-layer composites exhibit an improved fracture toughness and an excellent damage resistance due to the presence of the compressive stresses in the outer layers.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1023/A:1021825431220
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