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  • 1990-1994  (3)
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  • 1
    Electronic Resource
    Electronic Resource
    Analysis of 7 polymorphic markers at chromosome 11q22-23 in 35 ataxia telangiectasia families; further evidence of linkage (1990)
    Springer
    Human genetics 〈Berlin〉 85 (1990), S. 215-220 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Ataxia telangiectasia (A-T) is an autosomal recessive disorder characterised by progressive neurological degeneration, oculocutaneous telangiectasia, immunodeficiency and a high incidence of lymphoid tumours. A prerequisite to gaining a complete understanding of the basic defect that results in these features is the localization of the gene(s) involved. We report here a linkage analysis using seven polymorphic markers, which map to 11q22–23, on a sample of 35 consecutively obtained families from the British Isles showing this disorder. In a pairwise analysis, the strongest support for linkage was a lod score of 4.01 at zero recombination from Thy-1. This result supports a previous report showing linkage of the A-T gene to 11q22–23. We have also obtained evidence in a multipoint analysis for a more centromeric A-T-linked locus in the region between YNB 3.12/CJ52.208 and 2-7-1D6. This observation is also supported by inspection of the haplotypes of selected recombinants.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00193199
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Unusual features in the inheritance of ataxia telangiectasia (1990)
    Springer
    Human genetics 〈Berlin〉 84 (1990), S. 555-562 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary A prevalence study of ataxia telangiectasia was conducted in the West Midlands, with a population of over 5 million. The prevalence in those aged 50 or less was found to be 1 in 514 000 and the birth frequency to be about 1 in 300 000. A genetic study of 47 families ascertained throughout the United Kingdom was carried out concurrently. A low parental consanguinity rate was found, no parents being first cousins or more closely related, whereas 10% had been expected. The incidence of ataxia telangiectasia in the 79 sibs of index cases was 1 in 7. These two features demonstrate that ataxia telangiectasia may not always be an autosomal recessive condition. Other possible explanations are that some cases are double heterozygotes or new dominant mutations.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00210809
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    Paper (German National Licenses)
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  • 3
    Electronic Resource
    Electronic Resource
    Fibrous dysplasia with locally aggressive malignant change (1992)
    Springer
    Archives of orthopaedic and trauma surgery 111 (1992), S. 183-186 
    Details
    ISSN: 1434-3916
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary This is a case report of a tumour which showed all the histological features of fibrous dysplasia without any features of high-grade malignancy, yet had become locally aggressive, causing cortical erosion and extension into soft tissue. Fibrous dysplasia is a well-recognised enitity that encompasses monostotic lesions, polyostotic involvement and Albright's syndrome [6, 8]. Lesions in bone usually spare the epiphysis before puberty, but often involve the epiphyseal area after maturity and can progress during adult life [3]. Unless cystic [6, 10] or malignant change [7, 10, 11] occurs, fibrous dysplasia usually remains contained within bone.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00388097
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    Paper (German National Licenses)
    Fulltext
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