Researchers at the Centro Nacional de Investigaciones Cardiovasculares Carlos III (CNIC), working in collaboration with colleagues at other centers in Spain and abroad, have identified defects in the hearts of progeria patients ...
Nov 3, 2016
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The sudden death of a 13-year-old boy resulted in more than 20 relatives to be incorrectly diagnosed as having a potentially lethal heart rhythm condition. This erroneous diagnosis occurred as a result of inappropriate use ...
Oct 31, 2016
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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
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Research on fragile X syndrome, the most common inherited cause of mental retardation, has focused mostly on how the genetic defect alters the functioning of neurons in the brain. A new study focusing on a different type ...
Oct 4, 2016
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Using next-generation sequencing (NGS) methods to analyze cell-free DNA in the blood of patients with myelodysplastic syndrome (MDS) yields more accurate results than the current standard approach of Sanger sequencing. This ...
Aug 2, 2016
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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
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A study published in the journal Human Molecular Genetics by researchers at Children's Hospital Los Angeles (CHLA) provides novel insights into the brain mechanisms underlying the insatiable hunger and subsequent obesity ...
Jun 14, 2016
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People with intellectual disabilities are more susceptible to exploitation and abuse, and the rise of the Internet only increases their vulnerability.
May 19, 2016
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Klinefelter's syndrome is a genetic disorder that affects approximately one in 450 males. Each cell in the human body has 23 pairs of chromosomes. The sex chromosomes in a female are XX, and XY in men. Typically, men have ...
May 5, 2016
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Researchers with the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health, have collaborated with physicians and medical geneticists around the world to create the Atlas of Human Malformation ...
Apr 29, 2016
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