News tagged with genetic sequencing

A new syndrome caused by mutations in AHDC1

A team of researchers led by Baylor College of Medicine have identified the gene underlying a newly recognized genetic syndrome that has symptoms of sleep apnea, delayed speech and hyptonia, or generalized upper body weakness.

May 01, 2014
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Refining the language for chromosomes

When talking about genetic abnormalities at the DNA level that occur when chromosomes swap, delete or add parts, there is an evolving communication gap both in the science and medical worlds, leading to inconsistencies in ...

Apr 17, 2014
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Important discovery for the diagnosis of genetic diseases

A study conducted by Marie Kmita's team at the IRCM, in collaboration with Josée Dostie at McGill University, shows the importance of the chromatin architecture in controlling the activity of genes, especially those required ...

Jan 16, 2014
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