Articles

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  • Image attributed to: iStock Photo

    NGS screening for familial hypercholesterolemia

    Using next generation sequencing (NGS) for diagnosis of familial hypercholesterolemia in a primary care population subset with high cholesterol, shows that this approach could make selective screening in primary care feasible and increase genetic diagnoses of familial hypercholesterolemia.

    BMC Medical Genetics 2014, 15:70
  • Image attributed to: Muhammad Mahdi Karim, GNU FDL1.2

    SNPs linked to dengue shock syndrome

    A new genome wide association study confirms in a Thai population a previous finding from Vietnam of an association between two SNPs and risk of dengue shock syndrome, which is a leading cause of death from dengue infection.

    BMC Medical Genetics 2014, 15:58
  • Image attributed to: Stephen Dann, CC BY-SA 2.0

    Genetics of hearing loss

    Whole exome sequencing of Korean patients with autosomal recessive non-syndromic hearing loss found novel mutations and identified mutations in CDH23 as potentially an important causes of non-syndromic hearing loss in East Asians.

    BMC Medical Genetics 2014, 15:46
  • 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
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