News tagged with american journal of human genetics
Genetic error linked to rare disease that causes chronic respiratory infections
(Medical Xpress)—Scanning the DNA of two people with a rare disease has led scientists to identify the precise genetic error responsible for their disorder, primary ciliary dyskinesia.
Genetics
Oct 16, 2012 |
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Whole exome sequencing identifies cause of metabolic disease
Sequencing a patient's entire genome to discover the source of his or her disease is not routine – yet. But geneticists are getting close.
Genetics
Feb 03, 2012 |
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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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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 |
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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 |
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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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Breakthrough in deafness and ovarian failure syndrome
(Medical Xpress)—Researchers from Manchester Biomedical Research Centre at Saint Mary's Hospital and the University of Manchester have identified a new gene, which increases our understanding of the rare ...
Genetics
Mar 29, 2013 |
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Persistence pays off in solving hemophilia mystery, showing curiosity drives discovery
An Australian researcher has found the third and final missing piece in the genetic puzzle of an unusual form of hemophilia, more than 20 year after he discovered the first two pieces.
Genetics
Mar 07, 2013 |
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Scientists identify new therapeutic target for coronary heart disease
Scientists investigating how certain genes affect an individual's risk of developing coronary heart disease have identified a new therapeutic target, according to research published today in The American Journal of Human Ge ...
Cardiology
Feb 14, 2013 |
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More links found between schizophrenia, cardiovascular disease
A new study, to be published in the Feb. 7, 2013 issue of the American Journal of Human Genetics, expands and deepens the biological and genetic links between cardiovascular disease and schizophrenia. Cardiovascular diseas ...
Genetics
Jan 31, 2013 |
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Study points to a safer, better test for chromosomal defects in the fetus
A noninvasive, sequencing-based approach for detecting chromosomal abnormalities in the developing fetus is safer and more informative in some cases than traditional methods, according to a study published ...
Genetics
Jan 10, 2013 |
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Genetic sequencing breakthrough to aid treatment for congenital hyperinsulinism
Congenital hyperinsulinism is a genetic condition where a baby's pancreas secretes too much insulin. It affects approximately one in 50,000 live births and in severe cases requires the surgical removal of all or part of the ...
Genetics
Dec 27, 2012 |
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Carriers of gene variant appear less likely to develop heart disease
Scientists at the Jean Mayer USDA Human Nutrition Research Center on Aging (HNRCA) at Tufts University have discovered a new gene mechanism that appears to regulate triglyceride levels. This pathway may protect carriers of ...
Genetics
Dec 14, 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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More than 200 genes identified for Crohn's Disease
More than two hundred gene locations have now been identified for the chronic bowel condition Crohn's Disease, in a study that analysed the entire human genome.
Genetics
Dec 13, 2012 |
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American Journal of Human Genetics
The American Journal of Human Genetics is a leading journal in the field of human genetics. Since its inception in 1948 by the American Society of Human Genetics, the Journal has provided a record of research and review relating to heredity in humans and to the application of genetic principles in medicine and public policy, as well as in related areas of molecular and cell biology. Topics explored by The American Journal of Human Genetics include:
The American Journal of Human Genetics is conventionally abbreviated as Amer J Hum Genet, and is sometimes referred to as the AJHG.
Frequency: monthly; two volumes/year; six issues/volume. Volume 84 began in January 2009. ISSN: 0002-9297. 250 pages/issue.
For more information about American Journal of Human Genetics, read the full article at
Wikipedia.
This text uses material from Wikipedia and is available under the GNU Free Documentation License.
