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  • 1
    Electronic Resource
    Electronic Resource
    Italian experience regarding the prevention of Duchenne and Becker muscular dystrophies (1988)
    Springer
    European journal of pediatrics 147 (1988), S. 412-415 
    Details
    ISSN: 1432-1076
    Keywords: Duchenne muscular dystrophy, Becker muscular dystrophy ; Carrier diagnosis ; Prenatal diagnosis ; X-linked muscular dystrophies
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The indirect approach to carrier detection and prenatal diagnosis of Duchenne and Becker muscular dystrophies based on the study of DNA polymorphisms closely linked to this gene has been followed by five Italian laboratories in the study of 106 pedigrees. Out of 354 women studied up to 1 May 1987, 147 were identified as carriers because of pedigree information and/or of increased creatine phosphokinase (CPK) values. Of the remaining 207, 184 could be assigned to three arbitrarily defined risk categories (low, intermediate and high) using linkage analysis. This disaggregation of women at risk is clearly more useful than that defined before DNA analysis, in which the same 184 women could be assigned only to the low or intermediate risk categories. Prenatal diagnosis was theoretically possible in 90% of carrier women, and was actually performed in 14 pregnancies, which led to the identification of four affected male foetuses, one also having Down syndrome.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00496422
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  • 2
    Electronic Resource
    Electronic Resource
    Interferons and the Differentiation of Friend Cells (1989)
    Oxford, UK : Blackwell Publishing Ltd
    Annals of the New York Academy of Sciences 567 (1989), S. 0 
    Details
    ISSN: 1749-6632
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Natural Sciences in General
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1749-6632.1989.tb16476.x
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  • 3
    Electronic Resource
    Electronic Resource
    Mapping through somatic cell hybrids and cDNA probes of protein C to chromosome 2, factor X to chromosome 13, and α1-acid glycoprotein to chromosome 9 (1986)
    Springer
    Human genetics 〈Berlin〉 74 (1986), S. 30-33 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The previously unassigned gene coding for the anticoagulatory protein C has been mapped on chromosome 2 using a cDNA probe and genomic blots from a human-hamster somatic cell hybrid panel. The assignments of the genes coding for the coagulation factor X to chromosome 13, and for α1-acid glycoprotein to chromosome 9 have been confirmed using a similar direct approach.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00278781
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  • 4
    Electronic Resource
    Electronic Resource
    Assignment of human coagulation factor XII (fXII) to chromosome 5 by cDNA hybridization to DNA from somatic cell hybrids (1988)
    Springer
    Human genetics 〈Berlin〉 80 (1988), S. 397-398 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Human coagulation factor XII (fXII), a serine protease synthesized in liver and active in plasma, is involved in a wide variety of functions, including blood coagulation, fibrinolysis, bradykinin and complement activation. A complementary DNA (597 bp) encoding amino acid-16 to amino acid 183 of fXII protein was used to determine the chromosomal location of the fXII gene. DNAs from hamster-human somatic cell hybrids were digested with restriction enzymes and hybridized with the fXII cDNA. By the Southern method it was shown that restriction fragments able to hybridize to fXII cDNA are present only in DNA extracted from clones retaining human chromosome 5.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00273661
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  • 5
    Electronic Resource
    Electronic Resource
    Impairment of capping in lymphoblastoid cell lines of Duchenne patients indicates an intrinsic cellular defect (1989)
    Springer
    Human genetics 〈Berlin〉 83 (1989), S. 217-219 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Duchenne muscular dystrophy (DMD) is a lethal sex-linked degenerative disorder of the muscle in man. Generalized cell membrane abnormalities seem to be involved in the pathogenesis of the disease; in particular, the impairment of lymphocyte capping capacities has been repeatedly confimed. To clarify whether capping impairment is a consequence of factors related to the activity of the disease or an expression of an intrinsic cellular defect, we have investigated the capping capacities of DMD EBV-transformed cell lines. The results indicate a significant impairment of capping capacity in cultured cell lines, providing evidence for an intrinsic cell deficiency in DMD.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00285158
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  • 6
    Electronic Resource
    Electronic Resource
    Definitive localization of Becker muscular dystrophy in Xp by linkage to a cluster of DNA polymorphisms (DXS43 and DXS9) (1985)
    Springer
    Human genetics 〈Berlin〉 71 (1985), S. 33-36 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary A study of linkage between Becker muscular dystrophy and four X chromosome-specific DNA polymorphisms in 17 kindreds has indicated that this gene is located in Xp, as already anticipated by single pedigree analysis. In particular the DXS43 and DXS9 loci, identified by probes D2 and RC8, respectively, are closely linked to each other and are both located at approximately 15 cM from the Becker locus. These linkage data, together with the previously established linkage between Becker and the DXS7 locus identified by probe L 1.28, indicate that the Becker gene is located in the same region where Duchenne has been mapped and also yield information about relative genetic distances among different DNA polymorphisms of the X chromosome.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00295664
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  • 7
    Electronic Resource
    Electronic Resource
    Heterogeneity of mRNA expression in Italian fucosidosis patients (1989)
    Springer
    Human genetics 〈Berlin〉 82 (1989), S. 63-66 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Genomic DNA and mRNA from six unrelated Italian patients affected with fucosidosis were analyzed using two probes (AF3 and AF11B) of partial length cDNA coding for the lysosomal enzyme alpha-l-fucosidase. DNA from patient 2, digested with EcoRI, showed a variant pattern of hybridization caused by the loss of an EcoRI site. The same patient showed a markedly decreased amount of mRNA on Northern blot hybridization. Among the remaining patients, who showed no variation at the DNA level, two apparently lacked mRNA for alpha-l-fucosidase whereas the other three showed a transcript similar in size and amount to that observed in controls. These data confirm the genetic heterogeneity of the molecular defects causing fucosidosis in Italy.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00288274
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  • 8
    Electronic Resource
    Electronic Resource
    Origin of new mutations in Duchenne muscular dystrophy (1986)
    Springer
    Human genetics 〈Berlin〉 74 (1986), S. 456-460 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Nine unrelated pedigrees in which Duchenne muscular dystrophy (DMD) was not present in more than one sibship were studied, using 6 DNA polymorphisms closely linked to the DMD gene. The reconstruction of grandparental haplotypes indicates the occurrence of at least three new mutations, two in grandpaternal chromosomes and one in a grandmaternal chromosome. Two additional (but less well documented) new mutations might have occurred respectively in a grandfather's and in a grandmother's chromosome, the latter being represented by a deletion mutation. The new mutations detected in this study therefore add to a total of either three or five out of nine apparently independent mutations present in pedigrees without recurrence of the disorder.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00280507
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  • 9
    Electronic Resource
    Electronic Resource
    Frequency of consanguineous marriages among parents and grandparents of Down patients (1985)
    Springer
    Human genetics 〈Berlin〉 70 (1985), S. 256-258 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The existence of a rare autosomal gene which in the homozygous state would cause mitotic nondisjunction in the Down zygote has been hypothesized in the past by Alfi et al. (1980). This hypothesis can be supported or contradicted by the study of the frequency of consanguineous marriages among parents of affected children. Our study on 242 children affected with Down syndrome does not show any increase in the frequency of consanguineous marriages among their parents with respect to the general population, and therefore does not support the hypothesis of an autosomal gene controlling mitotic nondisjunction. Our data do not show any increase in the frequency of consanguineaous marriages even among paternal and maternal grandparents of the affected children, thus not supporting the other possible explanation of an autosomal recessive condition in one of the patient's parents which would cause meiotic nondisjunction.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00273452
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  • 10
    Electronic Resource
    Electronic Resource
    Thermal behaviour of uranium(VI) complexes (1983)
    Springer
    Journal of thermal analysis and calorimetry 28 (1983), S. 227-236 
    Details
    ISSN: 1572-8943
    Source: Springer Online Journal Archives 1860-2000
    Topics: Chemistry and Pharmacology
    Description / Table of Contents: Zusammenfassung Es wurde versucht, Komplexe von Uranylacetat undN-phenylthioharnstoff in fester Phase durch Erhitzen verschiedener stöchiometrischer Gemische der Reaktanten direkt in einer DSC- und einer TA-Apparatur herzustellen. Sowohl die DSC- als auch die TG-Ergebnisse deuten darauf hin, dass nur das 1∶1-Addukt gebildet wird, und zwar unabhängig von den molaren Mischungsverhältnissen der Reaktanten. Übereinstimmend mit IR-Daten scheint die Reaktion nur bei einem grossen Überschuss anN-Phenylthioharnstoff vollständig zu verlaufen.
    Abstract: Резюме Предприняты попытки твердотельных синте зов комплексов уранилац етата с N-фенилтиомочевиной н агреванием их непоср едственно в приборах ДСК и ТА. Уста новлено, что независимо от мол ярного соотношения в зятых реагентов, всегда пол учали аддукт состава 1:1. Согласно дан ным ИК спектроскопии, реакция протекает полностью только в присутствии значит ельного избытка N-фенилтиомочевины.
    Notes: Abstract The solid-state syntheses of complexes of uranyl acetate dihydrate andN-phenylthiourea have been attempted by heating various stoichiometric mixtures of the reactants directly in a DSC and in a TA apparatus. Both the DSC and the TG results indicate that only the 1∶1 adduct is formed, independently of the molar ratios of the reactants. It appears that the reaction is complete only with a large excess ofN-phenylthiourea, in agreement with IR data.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01983256
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