(Medical Xpress)—A large scientific study has discovered new genes causing severe seizure disorders that begin in babies and early childhood. The finding will lead to new tests to diagnose these conditions and promises ...
May 27, 2013
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(Medical Xpress)—A new gene associated with a form of congenital heart disease in newborn babies – known as "a hole in the heart" has been discovered by researchers.
May 27, 2013
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Researchers of the hereditary cancer research group at the Bellvitge Biomedical Research Institute (IDIBELL) and the Catalan Institute of Oncology (ICO) conducted a functional and structural study of seven missense variants ...
Apr 18, 2013
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The American College of Medical Genetics and Genomics (ACMG) has just released an important new Policy Statement on "Noninvasive Prenatal Screening for Fetal Aneuploidy." The Statement can be found in the Publications section ...
Apr 8, 2013
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(HealthDay)—The U.S. Preventive Services Task Force (USPSTF) recommends that BRCA1 and BRCA2 genetic testing be limited to women whose family histories are associated with an increased likelihood of having BRCA mutations.
Apr 2, 2013
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An Australia-led study has identified a gene associated with a common form of epilepsy which could lead to earlier diagnosis, a researcher said Tuesday.
Apr 2, 2013
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Researchers at Moffitt Cancer Center and colleagues in Canada have published study results focused on black women younger than 50, a population disproportionately afflicted with and dying from early-onset breast cancer compared ...
Mar 21, 2013
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When a child is born with a disorder of sex development, decisions regarding gender assignment and genital surgery are often made quickly and under pressure.
Jan 16, 2013
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So, is it a girl or a boy? This is the first question parents ask at the birth of an infant. Though the answer is obvious, the mechanism of sex determination is much less so. Researchers at the University of Geneva (UNIGE) ...
Jan 3, 2013
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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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