News tagged with genetic abnormalities
Researchers use newborn blood data to study cerebral palsy
Sep 01, 2009 |
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A statewide team of researchers led by a Michigan State University epidemiologist are hoping Michigan's archive of newborn blood spots will help them uncover the causes of cerebral palsy, the most common disabling motor disorder ...
Janet Rowley to receive Presidential Medal of Freedom for cancer chromosome studies
Jul 30, 2009 |
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Janet Davison Rowley, MD, a pioneer in demonstrating that cancer is a genetic disease, will receive the 2009 Presidential Medal of Freedom the White House announced Thursday. President Barack Obama will award ...
Scientists discover new genetic immune disorder in children
Jun 04, 2009 |
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Your immune system plays an important function in your health—it protects you against viruses, bacteria, and other toxins that can cause disease. In autoinflammatory diseases, however, the immune system goes awry, causing ...
Protein linked to mental retardation controls synapse maturation, plasticity
Medicine & Health / Neuroscience
Jun 01, 2009 |
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A team of neuroscientists at Cold Spring Harbor Laboratory (CSHL) has demonstrated the mechanism by which a signaling protein found throughout the brain controls the maturation and strength of excitatory synapses, the tiny ...
Search results for genetic abnormalities
Study examines genetic defects linked to body abnormalities in patients with childhood cancer
Jan 02, 2008 |
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Children with cancer have a higher prevalence of body abnormalities, such as asymmetric lower limbs and curvature of the spine, suggesting that the genetic defect responsible for the abnormality may play a role in the development ...
Gene screen to identify causes of autism
Oct 16, 2008 |
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A new screening method can be used to detect the chromosomal abnormalities most commonly associated with autism spectrum disorders. By screening for genetic defects associated with various kinds of cognitive impairment, the ...
Prenatal biochemical screening only detects half of chromosomal abnormalities
Jun 02, 2008 |
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Prenatal biochemical screening tests are widely used to look for chromosomal abnormalities in the fetus which can lead to serious handicap, or even death during gestation or in the first few days after birth. But these tests ...
ATRX -- Too much or too little underlies sex abnormalities
Jul 26, 2007 |
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6% of the patient population in Melbourne carries a genetic abnormality implicated in thalassemia. As well as causing blood disorders and severe mental retardation, boys with ATRX mutations have genital abnormalities.
MRI reveals inner ear anomalies in children with hearing loss
Sep 15, 2008 |
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Using magnetic resonance imaging (MRI), physicians can identify soft-tissue defects that contribute to hearing loss in children, according to a report in the September issue of Archives of Otolaryngology–Head & Neck Surgery, one of ...
Hallucinations in schizophrenia linked to brain area that processes voices
Jul 31, 2007 |
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For the first time, researchers using magnetic resonance imaging (MRI) have found both structural and functional abnormalities in specific brain regions of schizophrenic patients who experience chronic auditory hallucinations, ...
New gene for autism gives hope for future
Jun 25, 2009 |
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(PhysOrg.com) -- Scientists have discovered that abnormalities in a gene important for learning and memory are a cause of autism.
The egg makes sure that sperm don't get too old
Mar 25, 2009 |
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In contrast to women, men are fertile throughout life, but research at the Sahlgrenska Academy, University of Gothenburg, Sweden, has now shown that a fertilising sperm can get help from the egg to rejuvenate. The result ...
Mouse model of prion disease mimics diverse symptoms of human disorder
Nov 26, 2008 |
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A comprehensive mouse model of inherited prion disease exhibits cognitive, motor, and neurophysiological deficits that bear a striking resemblance to the symptoms experienced by patients with the human version of "mad cow ...
Muscular dystrophy diagnosis delayed almost 2.5 years in boys
May 11, 2009 |
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Boys show signs of Duchenne Muscular Dystrophy (DMD) for 2 ˝ years before they obtain a diagnosis and disease-specific treatment, about the same length of delay children have endured for the past 20 years despite advances ...
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