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
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A detailed study from Malawi, published in this week's PLoS Medicine, shows that during the first 2 years of life, infants who were born prematurely (before 37 weeks gestation) continue to have a higher risk of death than ...
Nov 8, 2011
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Mitochondrial depletion syndrome accounts for about 11 percent of the cases of children born with common myopathies and a more mild form of the syndrome affecting adults. A new finding by Cornell researchers may lead to a ...
Sep 22, 2011
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Using a diversity of DNA sequencing and human genome analytic techniques, researchers led by Baylor College of Medicine have identified some cases of developmental delay or cognitive disorders associated with a sudden chromosomal ...
Sep 15, 2011
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The protein MeCP2 is porridge to the finicky neuron. Like Goldilocks, the neuron or brain cell needs the protein in just the right amount. Girls born with dysfunctional MeCP2 (methyl-CpG-binding protein 2) develop Rett syndrome, ...
Jun 2, 2011
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Investigators at Nationwide Children's have received a grant from the National Institutes of Health (NIH) to help move a therapy for MPS IIIB that has been shown effective in mice toward clinical trials in humans.
May 25, 2011
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When adolescent females visit a pediatric emergency department with complaints that may signal a sexually transmitted infection (STI), white youths are less likely to be tested than blacks, according to a study to be presented ...
Apr 30, 2011
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