Microsatellite instability markers in breast cancer: A review and study showing MSI was not detected at ‘BAT 25’ and ‘BAT 26’ microsatellite markers in early-onset...
in: Breast cancer research and treatment , ISSN 1573-7217, Vol. 60 (2. 2000), p. 135-142 Zugang:
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2000
Abstract Microsatellite markers may provide evidence of faulty DNA mismatch repair (MMR) via the detection of microsatellite instability (MSI). The choice of microsatellite markers may impact on the MSI detection rate. In hereditary non-polyposis colon cancer (HNPCC), several informative... mehr
Copyright: Copyright 2000 Kluwer Academic Publishers mehr
Mutation detection in FGFR2 craniosynostosis syndromes
in: Human genetics , ISSN 1432-1203, Vol. 99 (2. 1997), p. 251-255 Zugang:
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1997
Abstract Five autosomal dominant craniosynostosis syndromes (Apert, Crouzon, Pfeiffer, Jackson-Weiss and Crouzon syndrome with acanthosis nigricans) result from mutations in FGFR genes. Fourteen unrelated patients with FGFR2-related craniosynostosis syndromes were screened for mutations in exons... mehr
Copyright: Copyright 1997 Springer-Verlag Berlin Heidelberg mehr
Frequent deletions at Xq28 indicate genetic heterogeneity in Hunter syndrome
in: Human genetics , ISSN 1432-1203, Vol. 86 (5. 1991), p. 505-508 Zugang:
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1991
Summary Hunter syndrome is a human X-linked disorder caused by deficiency of the lysosomal exohydrolase iduronate-2-sulphatase (IDS). The consequent accumulation of the mucopolysaccharides dermatan sulphate and heparan sulphate, in the brain and other tissues, often results in death before... mehr
Genome-wide association study identifies novel breast cancer susceptibility loci
in: Nature . - London [u.a.] : Nature Publising Group, ISSN 1476-4687, Vol. 447, No. 7148 (2007), p. 1087-1093 Zugang:
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2007
Breast cancer exhibits familial aggregation, consistent with variation in genetic susceptibility to the disease. Known susceptibility genes account for less than 25% of the familial risk of breast cancer, and the residual genetic variance is likely to be due to variants conferring more moderate... mehr