News tagged with 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 created May 10, 2013 | popularity 3 / 5 (1) | comments 0 | with audio podcast

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 created May 09, 2013 | popularity not rated yet | comments 0

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 created May 07, 2013 | popularity not rated yet | comments 0

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 created May 03, 2013 | popularity 4.5 / 5 (2) | comments 1 | with audio podcast

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 created May 02, 2013 | popularity 5 / 5 (2) | comments 2 | with audio podcast

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 created May 02, 2013 | popularity not rated yet | comments 0 | with audio podcast

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 created Apr 25, 2013 | popularity not rated yet | comments 0

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 created Mar 29, 2013 | popularity not rated yet | comments 0 | with audio podcast

Did evolution give us inflammatory disease?

In new research published on March 21, 2013 in the online issue of The American Journal of Human Genetics, researchers from Brigham and Women's Hospital (BWH) demonstrate that some variants in our genes that contribute to a p ...

Genetics created Mar 21, 2013 | popularity not rated yet | comments 0

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 created Mar 07, 2013 | popularity 5 / 5 (1) | comments 0 | with audio podcast

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 created Feb 14, 2013 | popularity 4 / 5 (1) | comments 0 | with audio podcast

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 created Jan 31, 2013 | popularity 5 / 5 (1) | comments 0 | with audio podcast

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 created Jan 10, 2013 | popularity 5 / 5 (1) | comments 0 | with audio podcast

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 created Dec 27, 2012 | popularity not rated yet | comments 0 | with audio podcast

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 created Dec 14, 2012 | popularity 5 / 5 (1) | comments 0 | with audio podcast

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.
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