A new paper in Genome Biology and Evolution finds that the link between paternal age and rare congenital disorders is more complex than scientists had previously thought.
Feb 27, 2024
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Sudden, unexplained child mortality is a tragedy; determining the cause of death is important for improving healthcare and providing loved ones with closure. Now, researchers from Japan have reported the use of an advanced ...
Apr 27, 2023
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A previously healthy infant who suffered aborted sudden cardiac death was found to have a de novo genetic mutation in the SOS1 gene. Such mutations are typical of Noonan syndrome and suggests the syndrome may be a cause of ...
Aug 18, 2021
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Researchers at Children's Hospital of Philadelphia (CHOP) have resolved a severe lymphatic disorder in a girl with Noonan Syndrome that had led to upper gastrointestinal bleeding, fluid collection around the lungs, and numerous ...
Nov 20, 2020
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Scientists have pinpointed the mechanism behind hydrocephalus, an accumulation of cerebrospinal fluid around the brain, in an inherited developmental disorder called Noonan syndrome.
Mar 22, 2018
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About 1 in 2,500 babies born in the United States each year have Noonan syndrome (NS), a genetic disorder that results in severe heart defects, among other symptoms. A gene called PTPN11 causes the condition, for which there ...
Dec 15, 2016
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Certain DNA mutations in bone cells that support blood development can drive leukemia formation in nearby blood stem cells, researchers from Winship Cancer Institute, Emory University and Children's Healthcare of Atlanta ...
Oct 26, 2016
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Bigger isn't always better, even when it comes to the body's most vital organs. An enlarged or thickened cardiac muscle can actually force the heart to work harder to pump blood throughout the body, weakening the organ until ...
Feb 3, 2015
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UCLA neuroscientists discovered that statins, a popular class of cholesterol drugs, reverse the learning deficits caused by a mutation linked to a common genetic cause of learning disabilities. Published in the Nov. 10 advance ...
Nov 10, 2014
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Noonan syndrome is a rare disease that is characterised by a set of pathologies, including heart, facial and skeletal alterations, pulmonary stenosis, short stature, and a greater incidence of haematological problems (mainly ...
Nov 5, 2014
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