Scientists have found a gene that causes Weaver syndrome, a rare genetic disorder that typically causes large size at birth, tall stature, developmental delay during childhood, and intellectual disability. Published today ...
Dec 15, 2011
0
0
Researchers are finding more genes directly associated with cleft lip and palate.
Jan 11, 2023
0
7
Further work carried out on mice suggests that this gene plays a part in motor network cross-over. Cross-over is a key factor in the transmission of brain signals, because it allows the right side of the brain to control ...
Feb 17, 2012
0
0
The region of DNA associated with Huntington's disease has been shown to grow throughout life and contribute towards disease progression.
Oct 10, 2019
0
6
Researchers at Emory University School of Medicine have identified five rare mutations in a single gene that appear to increase the chances that a boy will develop an autism spectrum disorder (ASD).
Jul 12, 2012
0
0
Researchers have identified a rare class of genetic differences transmitted from parents without autism to their affected children with autism and determined that they are most prominent in "multiplex" families with more ...
Jul 26, 2021
0
176
The causes of rare diseases could be uncovered using an approach created to identify genetic mutations that trigger a muscle-wasting condition, a study suggests.
Dec 18, 2019
0
13
According to some estimates, hundreds of genes may be associated with autism spectrum disorders (ASD), but it has been difficult to determine which mutations are truly involved in the disease and which are incidental. New ...
May 19, 2021
2
95
An innovative approach to genome screening has provided clues about rare mutations that may make people susceptible to brain aneurysms, predisposing them to brain bleeds, according to preliminary late-breaking research presented ...
Feb 3, 2012
0
0
(Medical Xpress)—A team of researchers led by the Institute of Cancer Research, London, have found that rare mutations in a gene called PPM1D are linked to an increased risk of breast and ovarian cancer. The mutations are ...
Dec 17, 2012
0
0
