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  • J91,AJMG,Passos-Bueno
    between the DMD like and the 1 8 kb sequences at the carboxyterminal domain of the dystrophin gene led to the suggestion that this 6q sequence might be a strong candidate for one of the autosomal recessive muscular dystrophies Thus we tested through linkage analysis if 6q probes flanking the dystrophin homologous sequence are linked to the gene responsible for limb girdle dystrophy LGMD A total of 226 individuals 57

    Original URL path: http://linkage.rockefeller.edu/pub/j91ajmg_p.html (2012-11-26)
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  • J91,AJHG,Vilkki
    among family members has remained unexplained but pedigree data suggest an involvement of an X chromosomal factor We have studied genetic linkage of the liability to develop optic atrophy to 15 polymorphic markers on the X chromosome in six pedigrees with LHON The results show evidence of linkage to the locus DXS7 on the proximal Xp Tight linkage to the other marker loci was excluded Multipoint linkage analysis placed the

    Original URL path: http://linkage.rockefeller.edu/pub/j91ajhg_v.html (2012-11-26)
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  • J90,BritJPsychi,Baron
    techniques of molecular genetics augur well for the discovery of disease related genes in mental disorders Recent studies showing linkage of chromosomal loci to bipolar affective illness and schizophrenia attest to the potential in the new genetics However the failure to replicate some of the early findings has led to calls for re evaluation of the methodology in psychiatric research Problems in studying complex psychiatric disorders include diagnostic uncertainties unclear

    Original URL path: http://linkage.rockefeller.edu/pub/j90bjp_b.html (2012-11-26)
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  • J90,ActaPsyScan,Baron
    that takes these factors into account When applied to manic depressive disease the results indicate that previous evidence for a major gene localized on the distal long arm of the X chromosome cannot be ascribed to phenotypic uncertainties and misclassifications i e a type I error Although the lod score the logarithm of odds favoring linkage is reduced with the more restrictive clinical definitions of the phenotype it remains significant

    Original URL path: http://linkage.rockefeller.edu/pub/j90aps_b.html (2012-11-26)
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  • J90,Nature,Gilliam
    the alpha motoneuron We have shown that chronic childhood onset SMA SMA II and III maps to a single locus on chromosome 5q Acute SMA SMA Type I Werdnig Hoffmann severe infantile is the main cause of heritable infant mortality Mapping the acute SMA locus by conventional methods is complicated by the rapidly fatal course of the disease and its recessive mode of inheritance We present here the typing of

    Original URL path: http://linkage.rockefeller.edu/pub/j90n_g.html (2012-11-26)
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  • J90,AJHG,Ikonen
    the diseased chromosome in different populations In genetically isolated populations such as Finland it is further possible to use this approach to test the hypothesis of a single mutation enriched in this population demonstrating an exceptionally low prevalence of HD In this study covering 70 of all diagnosed HD cases in Finland linkage disequilibrium of RFLP haplotypes of D4S10 and D4S43 loci polymorphisms was found This phenomenon not so far

    Original URL path: http://linkage.rockefeller.edu/pub/j90ajhg_i.html (2012-11-26)
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  • J90,Genomics,Kwan
    was performed with two additional DNA probes DXS94 and DXS178 by means of multipoint analysis of 20 families in which XLA is segregating Thirteen of these families had been previously analyzed with DXS3 and DXS17 Three crossovers were detected with DXS94 and no recombinations were found between DXS178 and the XLA locus in 9 informative families Our results show that XLA is closely linked to DXS178 with a two point

    Original URL path: http://linkage.rockefeller.edu/pub/j90geno_k.html (2012-11-26)
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  • J90,Genomics,Musarella
    2 286 296 1990 Oct Abstract Using multipoint linkage analysis in 20 families segregating for X linked retinitis pigmentosa XLRP the lod scores on a map of eight RFLP loci were obtained Our results indicate that under the hypothesis of homogeneity the maximal multipoint lod score supports one disease locus located slightly distal to OTC at Xp21 1 Heterogeneity testing for two XLRP loci suggested that a second XLRP locus

    Original URL path: http://linkage.rockefeller.edu/pub/j90geno_m.html (2012-11-26)
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