Researchers of the Catalan Institute of Oncology (ICO) at the Bellvitge Biomedical Research Institute (IDIBELL) have developed and validated a new method to diagnose hereditary breast and ovarian cancer syndrome based on ...
Jan 16, 2013
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(Medical Xpress)—Research out of the George Washington University (GW), published in the journal Proceedings of the National Academy of Sciences (PNAS), reveals another piece of the puzzle in a genetic developmental disorder ...
Jan 3, 2013
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A single genetic defect on the X chromosome that can result in a wide array of conditions—from learning and emotional difficulties to primary ovarian insufficiency in women and tremors in middle-aged men—occurs at a much ...
Dec 20, 2012
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Cleveland Clinic researchers from the Lerner Research Institute have uncovered two new genes associated with Cowden syndrome (CS) according to a new study, published today in the online version of the American Journal of ...
Dec 13, 2012
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Doctors have known for many years that patients with fragile X syndrome, the most common form of inherited intellectual disability, are often also diagnosed with autism. But little has been known about how the two diagnoses ...
Dec 12, 2012
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A large, multi-center clinical trial led by researchers from Columbia University Medical Center (CUMC) shows that a new genetic test resulted in significantly more clinically relevant information than the current standard ...
Dec 5, 2012
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After years of basic research, scientists at Johannes Gutenberg University Mainz (JGU) are increasingly able to understand the mechanisms underlying the human Usher syndrome and are coming ever closer to finding a successful ...
Dec 4, 2012
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An international team of geneticists, pediatricians, surgeons and epidemiologists from 23 institutions across three continents has identified two areas of the human genome associated with the most common form of non-syndromic ...
Nov 18, 2012
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(Medical Xpress)—University of Washington scientists have succeeded in removing the extra copy of chromosome 21 in cell cultures derived from a person with Down syndrome, a condition in which the body's cells contain three ...
Nov 9, 2012
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UC Davis researchers have found that for children with the genetic disorder known as chromosome 22q11.2 deletion syndrome anxiety—but not intelligence—is linked to poorer adaptive behaviors, such as self-care and communication ...
Nov 5, 2012
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