News tagged with genetic anomalies
Autism linked to increased genetic change in regions of genome instability
(Medical Xpress)—Children with autism have increased levels of genetic change in regions of the genome prone to DNA rearrangements, so called "hotspots," according to a research discovery to be published ...
Autism spectrum disorders
Apr 03, 2013 |
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Study finds mutations linked to relapse of childhood leukemia
After an intensive three-year hunt through the genome, medical researchers have pinpointed mutations that leads to drug resistance and relapse in the most common type of childhood cancer—the first time anyone has linked ...
Genetics
Feb 03, 2013 |
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How deficiencies in two genes synergize to halt formation of gut nervous system
Mutations in single genes can cause catastrophic diseases, such as Huntington's Disease or sickle cell anemia. However, many conditions, including cancer, diabetes and birth defects are multigenic, arising ...
Genetics
Jan 31, 2013 |
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Novel surgery at Packard Children's repairs boy's airway, voice box
Noah Jackson was born without a voice. Because of a rare genetic disease, his airway was so narrow he couldn't cry at birth. In fact, he could scarcely breathe, and had surgery when he was 5 days old to implant ...
Surgery
Jul 16, 2012 |
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Autism study validates importance of spontaneous causal mutations and sheds new light on gender skew
A clinically extensive and mathematically powerful study of 1000 families with one autistic child and one unaffected sibling has validated a controversial theory of autism's complex genetic causation. The study for the first ...
Genetics
Jun 08, 2011 |
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