Scientists discover elusive platelet count and limb development gene
Researchers have identified an elusive gene responsible for Thrombocytopenia with Absent Radii (TAR), a rare inherited blood and skeletal disorder. As a result, this research is now being transformed into ...
Genetics
Feb 26, 2012 |
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Two new genetic mutations associated with Cowden syndrome
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 ...
Genetics
Dec 13, 2012 |
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BUSM professor authors book on how knowledge about genes and family history can save lives
World-renowned genetics expert Aubrey Milunsky, MD, DSc, has penned a new book focused on new DNA tests that have dramatically expanded our ability to avoid, prevent, diagnose, predict and treat many genetic disorders. Based ...
Genetics
Aug 26, 2011 |
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Researchers probe genetic link to blindness
University of Leeds researchers have used next-generation DNA sequencing techniques to discover what causes a rare form of inherited eye disorders, including cataracts and glaucoma, in young children.
Ophthalmology
Sep 08, 2011 |
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Gene responsible for three forms of childhood neurodegenerative diseases found
A Montreal-led international team has identified the mutated gene responsible for three forms of leukodystrophies, a group of childhood-onset neurodegenerative disorders. Mutations in this gene were identified in individuals ...
Genetics
Sep 12, 2011 |
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Genetic counseling doesn't affect pre-diabetes behavior
(HealthDay)—Receiving genetic risk counseling does not significantly alter self-reported motivation or prevention program adherence for overweight individuals at risk for type 2 diabetes, according to a ...
Diabetes
Sep 07, 2012 |
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Whole genome sequencing of de novo balanced rearrangements in prenatal diagnosis
Whole genome sequencing of the DNA code of three prenatal samples provided a detailed map of the locations of their chromosomal abnormalities in 14 days, scientists reported today at the American Society of Human Genetics ...
Genetics
Nov 07, 2012 |
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New technology helps to find gene responsible for Kufs disease
Scientists from the Walter and Eliza Hall Institute and the University of Melbourne have used innovative new technologies to identify the gene responsible for a rare but fatal hereditary brain disorder. The ...
Genetics
May 05, 2011 |
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Australia-led study in epilepsy breakthrough
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.
Genetics
Apr 02, 2013 |
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