M Çalışkan, JX Chong, L Uricchio… - … molecular genetics, 2011 - Oxford Univ Press Exome sequencing is a powerful tool for discovery of the Mendelian disease genes. Previously, we reported a novel locus for autosomal recessive non-syndromic mental retardation (NSMR) in a consanguineous family [Nolan, DK, Chen, P., Das, S., Ober, C. and ... Cited by 9 - Related articles - All 5 versions
[HTML] from nih.govCCA Spencer, V Plagnol, A Strange… - … Molecular Genetics, 2011 - Oxford Univ Press We performed a genome-wide association study (GWAS) in 1705 Parkinson's disease (PD) UK patients and 5175 UK controls, the largest sample size so far for a PD GWAS. Replication was attempted in an additional cohort of 1039 French PD cases and 1984 controls for the 27 ... Cited by 8 - Related articles - All 7 versions
E Fossale, IS Seong, KR Coser… - … Molecular Genetics, 2011 - Oxford Univ Press Huntington's disease (HD) involves marked early neurodegeneration in the striatum, whereas the cerebellum is relatively spared despite the ubiquitous expression of full-length mutant huntingtin, implying that inherent tissue-specific differences determine susceptibility to the ...
DG Hernandez, MA Nalls, JR Gibbs… - … molecular genetics, 2011 - Oxford Univ Press Methylation at CpG sites is a critical epigenetic modification in mammals. Altered DNA methylation has been suggested to be a central mechanism in development, some disease processes and cellular senescence. Quantifying the extent and identity of epigenetic changes in the ... Cited by 6 - Related articles - All 5 versions
A Singleton… - Human Molecular Genetics, 2011 - Oxford Univ Press The dominant and sometimes competing theories for the aetiology of complex human disease have been the common disease, common variant (CDCV) hypothesis, and the multiple rare variant (MRV) hypothesis. With the advent of genome wide association studies and of second- ...
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