News tagged with timothy syndrome
Neurons grown from skin cells may hold clues to autism
Potential clues to how autism miswires the brain are emerging from a study of a rare, purely genetic form of the disorders that affects fewer than 20 people worldwide. Using cutting-edge "disease-in a-dish" ...
Nov 27, 2011 |
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New clues to molecular understanding of autism
The first transgenic mouse model of a rare and severe type of autism called Timothy Syndrome is improving the scientific understanding of autism spectrum disorder in general and may help researchers design more targeted interventions ...
Sep 12, 2011 |
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Skin cells help to develop possible heart defect treatment in first-of-its-kind study
Using skin cells from young patients who have a severe genetic heart defect, Stanford University School of Medicine scientists have generated beating heart cells that carry the same genetic mutation. The newly created human ...
Feb 09, 2011 |
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Search results for timothy syndrome
Key genetic error found in family of blood cancers
(Medical Xpress) -- Scientists have uncovered a critical genetic mutation in some patients with myelodysplastic syndromes – a group of blood cancers that can progress to a fatal form of leukemia.
Dec 14, 2011 |
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Discovery opens new options for improving transfusions
Donated red blood cells lose a key feature that diminishes their lifesaving power the longer they have been stored, according to researchers at Duke University Medical Center.
Jul 15, 2011 |
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Timothy syndrome mutations provide new insights into the structure of L-calcium channel
The human genome encodes 243 voltage-gated ion channels. Mutations in calcium channels can cause severe inherited diseases such as migraine, night blindness, autism spectrum disorders and Timothy syndrome, ...
Jul 14, 2011 |
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Catheterization recommended for treating pediatric heart conditions
Doctors should consider using catheterization as a treatment tool in addition to its established role in diagnosing children with heart defects, according to a new American Heart Association scientific statement.
Medicine & Health / Cardiology
May 02, 2011 |
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International panel revises 'McDonald Criteria' for diagnosing multiple sclerosis
International Panel Revises "McDonald Criteria" for Diagnosing MS -- Use of new data should speed diagnosis -- Publication coincides with MS Awareness Week
Medicine & Health / Neuroscience
Mar 09, 2011 |
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'New Delhi' superbug unfairly named, admits editor
The naming of a drug-resistant superbug after New Delhi unfairly stigmatised India, the editor of the medical journal that first published research into the disease has admitted.
Jan 12, 2011 |
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A 'giant' step toward explaining differences in height: Scientists map height 'hotspots' in the genome
(PhysOrg.com) -- An international collaboration of more than 200 institutions, led by researchers at Children's Hospital Boston, the Broad Institute, and a half-dozen other institutions in Europe and North ...
Sep 29, 2010 |
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Brain imaging may help diagnose autism
Children with autism spectrum disorders (ASDs) process sound and language a fraction of a second slower than children without ASDs, and measuring magnetic signals that mark this delay may become a standardized ...
Jan 08, 2010 |
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Research: Baby's sleep position is major factor in 'flat-headedness'
(PhysOrg.com) -- A baby's sleep position is the best predictor of a misshapen skull condition known as deformational plagiocephaly ? or the development of flat spots on an infant's head -- according to findings reported by ...
Nov 19, 2009 |
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Researchers identify gene variant associated with both autism and gastrointestinal dysfunction
A study led by researchers at the University of Southern California (USC) and Vanderbilt University have identified a specific gene variant that links increased genetic risk for autism with gastrointestinal (GI) conditions.
Mar 02, 2009 |
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List of search results for timothy syndrome
