Foetuses with a so-called new balanced chromosomal aberration have a higher risk of developing brain disorders such as autism and mental retardation than previously anticipated. The risk is 20 per cent for foetuses with these ...
May 25, 2018
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Researchers from the RIKEN Center for Integrative Medical Sciences have identified a gene that when mutated is responsible for a spectrum of disorders affecting the bones and connective tissue. This finding opens new avenues ...
May 9, 2013
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Researchers have identified a gene mutation that causes developmental delay, intellectual disability, behavioral abnormalities and musculoskeletal problems in children. The newly diagnosed condition, called NKAP-related syndrome, ...
Oct 3, 2019
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A study from the laboratory of Dr. Hugo J. Bellen, a distinguished service professor at Baylor College of Medicine and a principal investigator at the Jan and Dan Duncan Neurological Research Institute (Duncan NRI) at Texas ...
Oct 13, 2023
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Best vitelliform macular degeneration, or Best disease, is an inherited eye condition that typically leads to blindness over the course of a few decades. The disease can be caused by more than two hundred mutations in the ...
Jul 31, 2020
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About one in 100 children has a common brain disorder called Chiari 1 malformation, but most of the time such children grow up normally and no one suspects a problem. But in about one in 10 of those children, the condition ...
Dec 29, 2020
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(Medical Xpress)—Cracking the DNA code for a complex region of the human genome has helped 14 North American scientists, including five at Simon Fraser University, chart new territory in immunity research.
Apr 17, 2013
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Scientists have discovered the genetic mutation that causes the rare skin disease, keratolytic winter erythema (KWE), or 'Oudtshoorn skin', in Afrikaners.
May 5, 2017
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Progressive development of night blindness and tunnel vision, sometimes from the early age of 2, are trademarks of retinitis pigmentosa. Being the most common inherited disorder of the retina, retinitis pigmentosa affects ...
Jan 17, 2017
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Scientists have identified a gene in the French-Canadian population that predisposes them to the development of intracranial aneurysm (IA), a potentially life threatening neurological condition that is responsible for approximately ...
Oct 31, 2016
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