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  • 1
    Electronic Resource
    Electronic Resource
    Linkage analysis using multiple DNA polymorphic markers in normal families and in families with fragile X syndrome (1988)
    Springer
    Human genetics 〈Berlin〉 79 (1988), S. 219-227 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Linkage data, using the polymorphic markers 52A (DXS51), F9, 4D-8(DXS98), and St14(DXS52), are presented from 14 fragile X pedigrees and from 7 normal pedigrees derived from the collection of the Centre d'Étude du Polymorphisme Humaine. A multipoint linkage analysis indicates that the most probable order of these four loci in normal families is DXS51-F9-DXS98-DXS52. Recombination frequencies ( $$\hat \theta $$ ) corresponding to maximum LOD scores ( $$\hat Z$$ ) were obtained by two-point linkage analysis for a nuber of linkage groups, including: DXS51-F9 ( $$\hat Z$$ =5.94, $$\hat \theta $$ =0.03), F9-DXS98 ( $$\hat Z$$ =0.51, $$\hat \theta $$ =0.26), F9-DXS52 ( $$\hat Z$$ =0.84, $$\hat \theta $$ =0.27), and DXS98-DXS52 ( $$\hat Z$$ =0.32, $$\hat \theta $$ =0.20). A multipoint linkage analysis of these loci, including the fragile X locus, was also performed for the fragile X population and the data support the relative order (DSX51, F9, DXS98)-FRAXA-DXS52. Recombination frequencies and maximum LOD scores, which again were derived from two-point linkage analyses, were obtained for the linkage groups DXS51-F9 ( $$\hat Z$$ =9.96, $$\hat \theta $$ =0) and F9-DXS52 ( $$\hat Z$$ =0.07, $$\hat \theta $$ =0.45), as well as for the groups DXS51-FRAXA ( $$\hat Z$$ =2.42, $$\hat \theta $$ =0.15), F9-FRAXA ( $$\hat Z$$ =1.30, $$\hat \theta $$ =0.18), DXS98-FRAXA ( $$\hat Z$$ =0.05 $$\hat \theta $$ =0.36), and DXS52-FRAXA ( $$\hat Z$$ =2.42 $$\hat \theta $$ =0.15). The linkage data was further tested for the presence of genetic heterogeneity both within and between the fragile X and normal families for the intervals DXS51-F9, F9-DXS52, F9-FRAXA, and DXS52-FRAXA using a modification of the A test. Except for the interval F9-FRAXA (P〈0.10) there was no evidence of genetic heterogeneity for each of the various linkage groups examined. The heterogeneity detected for the interval F9-FRAXA, however, was most likely due to one family (Fx-28) that displayed very tight linkage between these two loci.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00366240
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  • 2
    Electronic Resource
    Electronic Resource
    Annotation: Deconstructing the attention deficit in fragile X syndrome: a developmental neuropsychological approach (2004)
    Oxford, UK : Blackwell Publishing
    The @journal of child psychology and psychiatry 45 (2004), S. 0 
    Details
    ISSN: 1469-7610
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine , Psychology
    Notes: Background:  Fragile X syndrome is one of the world's leading hereditary causes of developmental delay in males. The past decade has witnessed an explosion of research that has begun to unravel the condition at its various levels: from the genetic and brain levels to the cognitive level, and then to the environmental and behavioural levels. Our aim in this review is to attempt to integrate some of the extensive body of knowledge to move the research a step closer to understanding how the dynamics of atypical development can influence the specific cognitive and behavioural end-states frequently observed in children and adolescents with fragile X syndrome.Methods:  We conducted a review of the current neuropsychological and neuropsychiatric approaches that have attempted to delineate the pattern of ‘spared’ and ‘impaired’ functions associated with the phenotype.Results:  The profile of findings suggests that fragile X syndrome should not be viewed merely as a catalogue of spared and impaired cognitive functions or modules. Instead, there appears to be a process of almost gradual modularisation whereby cognitive mechanisms become domain specific as a function of development itself (Karmiloff-Smith, 1992). The results of a decade of intense research point towards an early weakness in one or more components of executive control rather than single, static higher-level deficits (e.g., spatial cognition, speech processing). This weakness affects both the development of more complex functions and current performance.Conclusions:  The prevailing tendency to interpret developmental disorders in terms of fixed damage to distinct modular functions needs to be reconsidered. We offer this review as an example of an alternative approach, attempting to identify an initial deficit and its consequences for the course of development. Through better definition of the cognitive and behavioural phenotype, in combination with current progress in brain imaging techniques and molecular studies, the next decade should continue to hold exciting promise for fragile X syndrome and other neurodevelopmental disorders.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1469-7610.2004.t01-1-00297.x
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    Paper (German National Licenses)
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  • 3
    Electronic Resource
    Electronic Resource
    Multilocus analysis of the fragile X syndrome (1988)
    Springer
    Human genetics 〈Berlin〉 78 (1988), S. 201-205 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary A multilocus analysis of the fragile X (fra(X)) syndrome was conducted with 147 families. Two proximal loci, DXS51 and F9, and two distal loci, DXS52 and DXS15, were studied. Overall, the best multipoint distances were found to be DXS51-F9, 6.9%, F9-fra(X), 22.4%; fra(X)-DXS52, 12.7%; DXS52-DXS15, 2.2%. These distances can be used for multipoint mapping of new probes, carrier testing and counseling of fra(X) families. Consistent with several previous studies, the families as a whole showed genetic heterogeneity for linkage between F9 and fra(X).
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00291662
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    Paper (German National Licenses)
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