Although it is rare, tuberous sclerosis complex (TSC) can be a difficult and frightening diagnosis for parents and children. The genetic disorder causes nonmalignant tumors to form in many different organs, including the ...
Jul 10, 2014
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(Medical Xpress)—A large team of researchers based in the Netherlands has found that whole genome sequencing can be used to identify a large percentage of patients who have a severe intellectual disability (SID). In their ...
Results from the first study of the clinical application of next generation DNA sequencing (NGS) in screening embryos for genetic disease prior to implantation in patients undergoing in-vitro fertilisation treatments show ...
May 31, 2014
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The most common heart valve abnormality has now been linked to an increased risk of aneurysms.
May 14, 2014
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Chromosomal abnormalities that result in birth defects and genetic disorders like Down syndrome remain a significant health burden in the United States and throughout the world, with some current prenatal screening procedures ...
May 6, 2014
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When talking about genetic abnormalities at the DNA level that occur when chromosomes swap, delete or add parts, there is an evolving communication gap both in the science and medical worlds, leading to inconsistencies in ...
Apr 17, 2014
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Nearly half of patients with the most common form of adult leukemia are said to have normal chromosomes but appear instead to have a distinct pattern of genetic abnormalities that could better define their prognosis and treatment, ...
Mar 29, 2014
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Infertility affects up to 15 percent of couples around the world, and in vitro fertilization (IVF) is one way to treat this common condition. A study published by Cell Press December 19th in the journal Cell reveals a safe, ...
Dec 19, 2013
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A novel combination anti-psoriasis therapy has potential for superior and longer-lasting therapeutic effects than current topical treatments by targeting genetic abnormalities in deeper layers of the skin. This research is ...
Nov 14, 2013
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Folic acid deficiency can cause severe health problems in offspring, including spina bifida, heart defects and placental abnormalities. A study out today reveals that a mutation in a gene necessary for the metabolism of folic ...
Sep 26, 2013
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