American Journal of Human Genetics
A cautionary tale on genome-sequencing diagnostics for rare diseases
Children born with rare, inherited conditions known as Congenital Disorders of Glycosylation, or CDG, have mutations in one of the many enzymes the body uses to decorate its proteins and cells with sugars. Properly diagnosing ...
Genetics
May 10, 2013 |
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Research identifies gene mutations associated with nearsightedness
People have long taken for granted that glasses and contact lenses improve vision for nearsightedness, but the genetic factors behind the common condition have remained blurry. Now researchers at Duke Medicine ...
Genetics
May 02, 2013 |
5 / 5 (2) |
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Gene identified, responsible for a spectrum of disorders affecting the bones and connective tissue
Researchers from the RIKEN Center for Integrative Medical Sciences have identified a gene that when mutated is responsible for a spectrum of disorders affecting the bones and connective tissue. This finding ...
Genetics
May 09, 2013 |
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Genetic variant may explain weight loss post-RYGB surgery
(HealthDay)—A genetic variant associated with weight loss after Roux-en-Y gastric bypass (RYGB) surgery has been identified, according to a study published in the May 2 issue of the American Journal of ...
Genetics
May 07, 2013 |
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Mystery disease solved by gene experts
(Medical Xpress)—A global team of researchers has identified the gene behind an Australian toddler's paediatric brain disorder in a discovery that is paving the way for the diagnosis and treatment of other ...
Genetics
May 03, 2013 |
4.5 / 5 (2) |
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Gene variant appears to predict weight loss after gastric bypass
Massachusetts General Hospital (MGH) researchers have identified a gene variant that helps predict how much weight an individual will lose after gastric bypass surgery, a finding with the potential both to ...
Genetics
May 02, 2013 |
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Gene controls three different diseases
An international research consortium led by the Universitat Autònoma de Barcelona (UAB), the CIBERER and the University of Wurzburg (Germany) has discovered a gene that can cause three totally different diseases, depending ...
Genetics
Apr 25, 2013 |
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