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  • 1
    Electronic Resource
    Electronic Resource
    Chromosome 4q35 haplotypes and DNA rearrangements segregating in affected subjects of 19 Italian families with facioscapulohumeral musculatur dystrophy (FSHD) (1994)
    Springer
    Human genetics 〈Berlin〉 94 (1994), S. 367-374 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Four DNA markers on the distal long arm of chromosome 4 have been analyzed for their linkage to facioscapulohumeral muscular dystrophy locus (FSHD) in a series of 16 Italian families. We found that, in two families, the disease is not linked to the 4q35 markers, indicating the presence of genetic heterogeneity among Italian FSHD families. Linkage analysis in the remaining families supports the order cen-D4S171-D4S163-D4S139-D4S810-FSHD-qter, in agreement with the physical map from the literature. EcoRI digestion and hybridization with the distal marker p13E-11 (D4S810) The locus D4S810 corresponding to probe p13E-11 has been recently renamed D4F104S1. detected DNA rearrangements in the affected members of both sporadic and familial cases of FSHD, with family-specific fragments ranging in size between 15 kb and 28 kb. In three sporadic FSHD cases, the appearance of a new “small” fragment not present in either parent was clearly associated with the development of FSHD disease. However, in the familial cases analyzed, we observed two recombinations between all four 4q35 markers and the disease locus in apparently normal subjects, leaving open the possibility of nonpenetrance of the FSHD mutation.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00201595
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  • 2
    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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    Paper (German National Licenses)
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  • 3
    Electronic Resource
    Electronic Resource
    Clinical study of proximal spinal muscular atrophy. Report on 89 cases (1984)
    Springer
    Neurological sciences 5 (1984), S. 423-432 
    Details
    ISSN: 1590-3478
    Keywords: Proximal Spinal Muscular Atrophy ; clinical features ; classification ; inheritance
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Sommario Gli autori riportano le proprie esperienze su 89 casi di amiotrofie spinali prossimali facendo alcune considerazioni sulle caratteristiche cliniche. Nel discutere i criteri di classificazione e le modalità di trasmissione, gli autori suggeriscono l'ipotesi che le singole forme in cui è divisa l'amiotrofia spinale prossimale possano essere considerate come una malattia unitaria con ampia variabilità per età di esordio e gravità, dovuta generalmente, alla trasmissione di un gene autosomico recessivo.
    Notes: Abstract A report on 89 cases of proximal Spinal Muscular Atrophy with observations on the clinical features, criteria of classification and modes of inheritance. The various forms into which SMA is divided probably represent a single disease that may begin at any age and may vary in severity, due, as a rule, to an autosomal recessive gene.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02042627
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    Paper (German National Licenses)
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