A research team at Ben-Gurion University of the Negev and Soroka University Medical Center in Beer-Sheva, Israel has detected a genetic mutation resulting in a progressive disease of severe mental retardation and epilepsy ...
Oct 12, 2010
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Van Den Ende-Gupta syndrome (VDEGS) is an extremely rare genetic disorder that is characterized by distinctive head and facial features, such as unusual eyelids, narrow and beaked noses, flat nasal bridges, ...
Sep 30, 2010
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A break in the two chromosomes has given scientists a break in finding a new gene involved in puberty, Medical College of Georgia researchers report.
Sep 30, 2010
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One in seven couples worldwide has difficulty conceiving a child, and male infertility is thought to account for nearly half of those cases. Although the cause of male infertility is often unknown, scientists ...
Sep 30, 2010
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(PhysOrg.com) -- Scientists at Washington University School of Medicine in St. Louis have scanned the entire genome of mice for genes that help build photoreceptors, the light-sensing cells of the eye.
Sep 07, 2010
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(PhysOrg.com) -- A new turn in the debate over explanations for the odd features of LB1 -- the specimen number of the only skull found in Liang Bua Cave on the Indonesian island of Flores and sometimes called "the hobbit" ...
Sep 06, 2010
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(PhysOrg.com) -- Virginia Commonwealth University School of Medicine researchers have identified a gene that causes most of the features associated with brachydactyly mental retardation syndrome, a complex disorder involving ...
Aug 27, 2010
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An international study led by University of Montreal scientists suggests family history may not be a good predictor of the presence of mutations predisposing to autism or schizophrenia.
Aug 26, 2010
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A group of scientists has identified a genetic variant that substantially increases the risk for developing schizophrenia in Ashkenazi Jewish and other populations. The study, published by Cell Press on August 5th in the ...
Aug 05, 2010
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Scientists have successfully used "next generation sequencing" to identify mutations that may cause a rare and mysterious genetic disorder. The research, published by Cell Press on July 29th in the American Journal of Hu ...
Jul 29, 2010
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A genetics research team based at The Children's Hospital of Philadelphia continues to discover recurrent translocations—places in which two chromosomes exchange pieces of themselves. As many as 1 in 600 persons carry balanced ...
Jul 29, 2010
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Although clubfoot is one of the most common congenital birth defects, few genetic causes have been found. Now, researchers at Washington University School of Medicine in St. Louis have found what they believe ...
Jul 01, 2010
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Medical College of Georgia researchers have identified the culprit gene for a rare condition that turns smiles into grimaces and impedes bladder and bowel control.
Jun 07, 2010
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Using sophisticated genetic analysis, scientists at Albert Einstein College of Medicine of Yeshiva University and New York University School of Medicine have published a study indicating that Jews are a widely dispersed people ...
Jun 03, 2010
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A genetic mutation for inherited lymphedema associated with lymphatic function has been discovered that could help create new treatments for the condition, say researchers at the University of Pittsburgh Graduate School of ...
May 27, 2010
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