- No association between MUTYH and MSH6 germline mutations in 64 HNPCC patients
[作者:Steinke, V; Rahner, N; Morak, M; Keller, G; Schackert, HK; Gorgens, H; Schmiegel, W; Royer-Pokora, B; Dietmaier, W; Kloor, M; Engel, C; Propping, P; Aretz, S,期刊:European Journal of Human Genetics, 页码:587-592 , 文章类型: Article,,卷期:2008年16-5]
- Hereditary non-polyposis colorectal cancer ( HNPCC) is an autosomal dominant tumour predisposition syndrome caused by germline mutations in mismatch repair ( MMR) genes. In contrast to MLH1 and MSH2, germline mutations i...
- A splice-site mutation and overexpression of MYO6 cause a similar phenotype in two families with autosomal dominant hearing loss
[作者:Hilgert, N; Topsakal, V; van Dinther, J; Offeciers, E; Van de Heyning, P; Van Camp, G,期刊:European Journal of Human Genetics, 页码:593-602 , 文章类型: Article,,卷期:2008年16-5]
- Hearing loss is the most common sensory disorder, affecting 1 in 650 newborns. Linkage analysis revealed linkage to locus DFNA22 in two Belgian families 1 and 2 with autosomal dominant sensorineural hearing loss. As MYO6...
- The genetic architecture of fasting plasma triglyceride response to fenofibrate treatment
[作者:Smith, JA; Arnett, DK; Kelly, RJ; Ordovas, JM; Sun, YV; Hopkins, PN; Hixson, JE; Straka, RJ; Peacock, JM; Kardia, SLR,期刊:European Journal of Human Genetics, 页码:603-613 , 文章类型: Article,,卷期:2008年16-5]
- Metabolic response to the triglyceride (TG)- lowering drug, fenofibrate, is shaped by interactions between genetic and environmental factors, yet knowledge regarding the genetic determinants of this response is primarily...
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