(Medical Xpress)—A rare genetic disorder known as Jacobsen syndrome has been linked with autism, according to a recent joint investigation by researchers at San Diego State University and the University of California, San ...
Sep 15, 2014
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(Medical Xpress)—Yale-led research has identified a genetic mutation responsible for the cluster of cardiovascular risk factors that comprise the obesity-related "metabolic syndrome." The study appears in the May 15 issue ...
May 15, 2014
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People at high risk of cancer of the bowel and womb due to a genetic condition will receive a more accurate diagnosis as a result of a new model developed by a team of international scientists.
Dec 24, 2013
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The first evidence that the underlying genetic defect responsible for trisomy 21, also known as Down syndrome, can be suppressed in laboratory cultures of patient-derived stem cells was presented today (Oct. 22) at the American ...
Oct 22, 2013
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As so many genome studies do, this study published online in the journal Nature Genetics began with a single patient and his parents who were in search of a diagnosis.
Sep 29, 2013
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Children with a genetic disorder called 22q11.2 deletion syndrome, who frequently are believed to also have autism, often may be misidentified because the social impairments associated with their developmental delay may mimic ...
Sep 18, 2013
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Researchers at Johns Hopkins and the National Institutes of Health have identified a compound that dramatically bolsters learning and memory when given to mice with a Down syndrome-like condition on the day of birth. As they ...
Sep 4, 2013
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Statins, a class of cholesterol-lowering drugs found in millions of medicine cabinets, may help treat Rett Syndrome, according to a study published today in Nature Genetics. The Rett Syndrome Research Trust (RSRT) funded ...
Jul 29, 2013
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Scientists at the University of Massachusetts Medical School are the first to establish that a naturally occurring X chromosome "off switch" can be rerouted to neutralize the extra chromosome responsible for trisomy 21, also ...
Jul 17, 2013
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(Medical Xpress)—A research team has genetically engineered a mouse with glowing primary cilia, the tiny outgrowths seen on the surface of most cells, according to a study published today in BioMed Central's open access ...
Jul 4, 2013
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