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  • 1
    ISSN: 1520-5835
    Source: ACS Legacy Archives
    Topics: Chemistry and Pharmacology , Physics
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1430-2772
    Source: Springer Online Journal Archives 1860-2000
    Topics: Psychology
    Description / Table of Contents: Zusammenfassung Kombiniert mit Belohnungen, die nur für richtige Antworten erfolgten, wurden drei Rückmelde-Trainingsverfahren: „Fading“, „Feedback“ und „Feedback plus Instruction“ angewandt, um 12 geistig retardierte Jungen an Zahlen-Konservations-Aufgaben zu trainieren. Nur die Fading- und Feedback plus Instruction-Techniken zeigten hoch signifikante Trainingsgewinne, doch keine der Techniken führte zu bedeutenden Verbesserungen bei Transferaufgaben. Die Vorteile der Fading-Technik gegenüber mehr traditionellen Verfahren (weniger Fehler, Erlernen „schwierigerer“ Aufgaben) wurde ebenso erörtert wie Probleme ihrer Anwendung. Aufgabenanalysen zeigten, daß erstens verfrühtes Ausblenden der zusätzlichen Farben bei der Fading-Technik zu einem starken Absinken der Anzahl der richtigen Antworten besonders bei „schwierigen“ Aufgaben führt; und daß zweitens die Feedback-Technik beim Erlernen „schwieriger“ Aufgaben besonders geringen Erfolg hat. Methodologische Probleme bei vorausgegangenen Konservationsexperimenten wurden aufgezeigt, und es wurde versucht, diese methodologischen Probleme zu lösen.
    Notes: Summary Three feedback training procedures, fading, feedback and feedback plus instruction, were used in conjunction with reinforcement contingencies to assess the performance of 12 mentally retarded boys in number rentention exercises. The fading and the feedback plus instruction procedures were the only ones to yield highly significant effects: none of the procedures led to any substantially improved performance in transfer exercises. Advantages of fading over the more traditional procedure (less errors, ability to learn “difficult” exercises) are discussed, as are the problems arising in the application of this method. Analysis of the exercises showed that premature removal of the additional colour cues in the fading procedure resulted in a substantial reduction of the number of correct responses, especially in the “difficult” exercises, and that the feedback procedure was particularly unsuccessful in “difficult” exercises. Methodological problems encountered in previous retention studies were indicated and an attempt made to overcome them.
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 1432-0509
    Keywords: Brunner's glands ; Brunner's glands, adenoma ; Brunner's glands, hyperplasia ; Duodenum tumor ; Melena
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A case of extreme diffuse adenomatous hyperplasia of Brunner's glands was clinically manifested by melena and anemia. Diagnosis was established by barium studies, endoscopy, ultrasonography, computerized tomography, and histology. The radiologic, clinical, pathologic, and differential diagnostic features are reviewed.
    Type of Medium: Electronic Resource
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  • 4
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The identification of the molecular defect in a significant proportion of cystic fibrosis families (in our series up to 60%) allows direct DNA diagnosis.
    Type of Medium: Electronic Resource
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  • 5
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 81 (1988), S. 54-56 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Three hundred and ninety-two subjects from 89 German families were typed for restriction fragment length polymorphisms (RFLPs) detected by the probes pmetH, pmetD, pJ3.11, KM19, and XV2c known to be tightly linked to the cystic fibrosis (CF) gene. The analysis of the predictive value of this typing in individual CF families indicates that the combined use of these probes provides a powerful diagnostic system for both carrier detection and prenatal diagnosis. In 45 families the complete haplotype including all RFLPs was available. Of them 41 (91.1%) were fully informative and 4 were partly informative.
    Type of Medium: Electronic Resource
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  • 6
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The geographic distribution and origin of CFTR mutations in Germany was evaluated in 658 three-generation families with cystic fibrosis (CF). Fifty different mutations were detected on 1305 parental CF chromosomes from 22 European countries and overseas. The major mutation ΔF508 was identified on 71.5% of all CF chromosomes, followed by R553X (1.8%), N1303K (1.3%), G542X (1.1%), G551D (0.8%) and R347P (0.8%). According to the grandparents’ birthplace, 74% of CF chromosomes had their origin in Germany; the ΔF508 percentage was 77%, 75%, 70% and 62% in northern, southern, western and eastern Germany, respectively. Ten or more mutant alleles in the investigated CF gene pool originated from Austria, the Czech Republic, Poland, Russia, Turkey and the Ukraine. This widespread geographic origin of CFTR mutations in today’s Germany reflects the many demographic changes and migrations in Central Europe during the 20th century.
    Type of Medium: Electronic Resource
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  • 7
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary A new mutation (CGA to TGA) in codon 261 of exon 7 of the phenylalanine hydroxylase gene transforms Arg261 to a stop codon in two unrelated patients of German and Turkish origin. The different ethnic backgrounds and the different polymorphic characteristics of the two mutant alleles suggest an independent origin of the mutation. This is the second defect detected in codon 261 of the phenylalanine hydroxylase gene, a codon that thus appears to be a mutation hot spot.
    Type of Medium: Electronic Resource
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  • 8
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 79 (1988), S. 172-174 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The molecular defect leading to Haemoglobin (Hb) Freiburg has been analysed using synthetic oligonucleotides. Oligonucleotide probes 19 residues and 16 residues long, corresponding to the normal and mutant β-globin gene sequences, respectively, were used to develop a direct assay for the βF-globin gene, which codes for an unstable haemoglobin. Under the conditions described here the use of the respective synthetic oligonucleotides should aid in the determination of all Hb Freiburg genotypes in families at risk with a high level of confidence.
    Type of Medium: Electronic Resource
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  • 9
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 87 (1991), S. 739-741 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary A deletion of a single base in codon 55 (exon 2) of the phenylalanine hydroxylase (PAH) gene has been identified by direct DNA sequencing of 94 phenyl-ketonuria (PKU) chromosomes. This mutation alters the reading frame so that a stop signal (TAA) is generated in codon 60 of the PAH gene. Haplotype analysis revealed that all PKU alleles showing the codon 55 frameshift mutation exhibited haplotype 1. In our panel of DNA probes 13% of all mutant haplotype 1 alleles carry this particular mutation. Patients who were compound heterozygotes for this deletion and R408W in exon 12, or the splice mutation in intron 12, were affected by severe PKU. Thus, the clinical data provide additional evidence that haplotype 1 PKU alleles carry molecular defects which confer a null phenotype. In addition, we were able to show that the newly detected mutation occurs on alleles of different ethnic background.
    Type of Medium: Electronic Resource
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  • 10
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 98 (1996), S. 345-347 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The population of northern Thailand has one of the highest frequencies of α-thalassemia in the world. However, the available distributional data are controversial. In addition to deletional types of α-thalassemia Hb, type Constant Spring should also be taken into consideration in α-thalassemia population studies, because it causes clinical α-thalassemia in the homozygous state or when present with both α-globin genes deleted in trans. We have examined a sample of 215 healthy subjects from four rural districts of Chiang Mai province. Out of these, 77 exhibited anomalies of the α-globin genes (αα/-α3.7 in 36; -α3.7/-α3.7 in 3; ––SEA in 30; αα/αCSα in 5; αααanti3.7 in 3). Therefore, no fewer than 2% of the children in northern Thailand are expected to be born with HbH disease or thalassemic hydrops fetalis. The considerable public health problem of hemoglobinopaties and the increasing acceptance of family planning necessitates facilities for the pre- and postnatal diagnosis of these disorders at the DNA level.
    Type of Medium: Electronic Resource
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