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  • Image attributed to: Ed Euthman on Flickr, Creative Commons

    Mismatch repair gene expression in colorectal cancer

    The expression of mismatch repair genes and their promoter methylation in colorectal cancer tissues shows great variation by the location of the tumor, and promoter methylation was only seen in the MLH1 gene in a subset of tumors.

    BMC Medical Genetics 2014, 15:17
  • Mitochondrial disease diagnosis with NGS

    Genetic diagnosis of patients with suspected mitochondrial disorders using next generation sequencing finds great underlying genetics heterogeneity and that the majority did not have direct impairment of energy production, underlining the difficulties with traditional biochemical analysis.

    BMC Medical Genetics 2013, 14:118
  • Image attributed to: Mandy Jouan on Flickr, CC BY-ND 2.0

    Filling in the details on tooth decay risk

    Fine mapping identifies a functional SNP associated with higher experience of dental caries on chromosome 13 and indicates a possible mechanism and that glucocorticoid receptor expression in saliva and salivary cortisol may be biomarkers for caries risk

    BMC Medical Genetics 2013, 14:116
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