ABL1, a human gene well-known for its association with cancer now has been linked to a developmental disorder. The study, which was carried out by a team of researchers from institutions around the world, including Baylor ...
Mar 14, 2017
0
41
Research led by St. Jude Children's Research Hospital has identified three genetic alterations to help identify high-risk pediatric patients with acute megakaryoblastic leukemia (AMKL) who may benefit from allogeneic stem ...
Jan 23, 2017
0
18
Scientists at the National Institutes of Health have identified a genetic explanation for a syndrome characterized by multiple frustrating and difficult-to-treat symptoms, including dizziness and lightheadedness, skin flushing ...
Oct 17, 2016
0
104
A new finding by clinicians and geneticists may solve a medical mystery that one family has faced for the last 15 years and help identify the cause of a rare aortic disease in other patients as well. Through genetic analysis ...
Jul 18, 2016
0
29
About half of children born with Jacobsen syndrome, a rare inherited disease, experience social and behavioral issues consistent with autism spectrum disorders. Researchers at University of California, San Diego School of ...
Mar 16, 2016
0
31
The results of an international study published in Nature Cell Biology have identified a gene (TMEM107) associated with Joubert syndrome, and crucially uncovered the mechanism by which it functions in cells, leading to a ...
Nov 25, 2015
0
473
Researchers working with mice believe there's hope for patients with a rare genetic disorder that turns their muscle into bone, in essence immobilizing them in an extra skeleton.
Sep 2, 2015
1
103
Fragile X syndrome, an inherited cause of autism and intellectual disability, can have consequences even for carriers of the disorder who don't have full-blown symptoms.
Apr 24, 2015
0
70
The disease, which has been named 'chronic atrial intestinal dysrhythmia syndrome', is a serious condition caused by a rare genetic mutation. This finding demonstrates that heart and guts rhythmic contractions are closely ...
Oct 5, 2014
0
0
(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
0
0
