An international group of researchers led by Cold Spring Harbor Laboratory (CSHL) Assistant Professor Gholson Lyon has identified a new genetic mutation associated with intellectual disability, developmental delay, autism ...
Apr 12, 2018
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An expert committee of Europe's medicines watchdog recommended Friday that a drug used to treat epilepsy and linked to malformations in children not be used in pregnancy.
Feb 9, 2018
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For years, the underlying process that causes a debilitating muscle disorder in infants and young children has been largely unknown. Now, a group that includes University of Florida Health genetics researchers has identified ...
Jul 11, 2017
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Lithium, a commonly used medicine to treat bipolar disorder, has been associated with a 400 fold increased risk of Ebstein's anomaly, a congenital malformation of the heart, and a 5 fold increased risk of cardiac defects ...
Jun 7, 2017
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A neurodevelopmental disorder for which there was no known cause has been linked to SON, a gene that is involved in essential mechanisms a cell uses to translate DNA into protein, as well as in DNA replication and cell division. ...
Aug 18, 2016
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In a new study, a research team at Basel University Hospital in Switzerland investigates the biochemical and physiological characteristics of orbicularis oculi, a group of facial muscles that control the eyelids and are selectively ...
Apr 11, 2016
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A common drug used to treat epilepsy has caused congenital defects in around 450 babies in France who were exposed to the medication before birth in the uterus, according to an estimate by health authorities published Tuesday.
Feb 23, 2016
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(HealthDay)—Polyhydramnios with normal prenatal detailed ultrasound examination is associated with increased risk for adverse outcomes, including fetal malformations, genetic syndromes, neurologic disorders, and developmental ...
Jan 11, 2016
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(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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UWA researchers have helped identify the most common cause of congenital lactic acidosis in Roma patients, which could have wide-ranging implications in Australian settings.
Aug 18, 2014
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