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Sequencing the personal genetic blueprint of Nobel laureate and DNA pioneer James D. Watson – first announced nearly a year ago – signals a new technological era that points the way to development of techniques that will make personal genomic medicine possible.
Baylor College of Medicine (Genetics e Rare diseases) - Wed, 23 April 2008
http://www.bcm.edu
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Genome-wide association scans have identified new colorectal cancer susceptibility loci on 11q23, 10p14, and 8q23.3.
Medscape (Genetics e Rare diseases) - Fri, 4 April 2008
http://www.medscape.com
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Prader-Willi Syndrome, a rare genetic disorder caused by a deletion in chromosome 15 that causes mild retardation and obsessive eating, will be the focus of a discussion April 10 at The Health Museum of Houston.
Baylor College of Medicine (Genetics e Rare diseases) - Fri, 4 April 2008
http://www.bcm.edu
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The genetic basis of a defect in the metabolism of vitamin B12 (the cblD defect) was studied in cultured skin fibroblasts from seven patients with the defect.
New England Journal of Medicine (Genetics e Rare diseases) - Fri, 4 April 2008
http://www.nejm.org
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Scientists have identified genetic variations that raise the risk of lung cancer for smokers and former smokers.
BBC News (Genetics e Rare diseases) - Fri, 4 April 2008
http://news.bbc.co.uk
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Our level of happiness is strongly influenced by the genes with which we were born, say experts.
BBC News (Genetics e Rare diseases) - Wed, 5 March 2008
http://news.bbc.co.uk
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Stem cell therapy is rapidly developing and has generated excitement and promise as well as confusion and at times contradictory results in the lay and scientific literature.
Journal of the American Medical Association (Genetics e Rare diseases) - Thu, 28 February 2008
http://jama.ama-assn.org/
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Menkes disease is a fatal neurodegenerative disorder caused by mutations in a copper-transport gene. In this study of 81 newborns at risk for Menkes disease, a screening test indicating low dopamine-{beta}-hydroxylase activity demonstrated high sensitivity and specificity.
New England Journal of Medicine (Genetics e Rare diseases) - Thu, 7 February 2008
http://www.nejm.org
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This article describes the detailed phenotype of 15 children, 1 to 17 years of age, with Hutchinson-Gilford progeria syndrome, a rare, sporadic autosomal dominant premature aging syndrome causing death at approximately 13 years of age.
New England Journal of Medicine (Genetics e Rare diseases) - Thu, 7 February 2008
http://www.nejm.org
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A novel gene called rumi regulates Notch signaling by adding a glucose molecule to the part of the Notch protein that extends outside a cell.
Baylor College of Medicine (Genetics e Rare diseases) - Wed, 30 January 2008
http://www.bcm.edu