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
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 |
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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 |
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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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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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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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Genetic adaptation of fat metabolism key to development of human brain
About 300 000 years ago humans adapted genetically to be able to produce larger amounts of Omega-3 and Omega-6 fatty acids. This adaptation may have been crucial to the development of the unique brain capacity in modern humans. ...
Genetics
Apr 12, 2012 |
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Study reveals rate at which key genetic deletions contribute to male infertility
A large-scale analysis of Y chromosomes from more than 20,000 men finds that two spontaneously recurring deletions along a complex region of the Y chromosome are responsible for approximately 8% of cases of failed sperm production.
Genetics
Oct 25, 2012 |
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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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Researchers find genetic cause for body tremors
Researchers at the University of Montreal and its affiliated CHU Sainte-Justine and CHUM hospitals have linked some cases of Essential Tremor (ET) to a specific genetic problem. ET is the most common movement disorder, becoming ...
Genetics
Aug 02, 2012 |
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New throat cancer gene uncovered
Researchers at King's College London and Hiroshima University, Japan, have identified a specific gene linked to throat cancer following a genetic study of a family with 10 members who have developed the condition.
Cancer
Mar 08, 2012 |
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Scientists discover genetic mutation that causes Parkinson's disease
A large team of international researchers have identified a new genetic cause of inherited Parkinson's disease that they say may be related to the inability of brain cells to handle biological stress. The study, published ...
Parkinson's & Movement disorders
Sep 08, 2011 |
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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.
