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Spectrum: Autism Research News

Tag: copy number variation

March 2010

Two-hit wonder

by  /  17 March 2010

We know that carrying one specific DNA variant can increase your risk of autism. What if you carry two?

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Clinical, animal studies probe DISC1’s role in autism

by  /  1 March 2010

Several genetic and animal studies in the past year have found intriguing ties between autism and DISC1, one of the oldest candidate genes for psychiatric disorders.

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February 2010

Rare deletions on chromosome 16 tie autism to obesity

by  /  10 February 2010

Individuals who carry a large and rare deletion on chromosome 16 that is associated with autism are likely to have developmental delays, be obese or both, according to two studies published last week in Nature.

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December 2009

Chemical messenger variant found in families with autism

by  /  16 December 2009

Scientists have for the first time found direct evidence that defects in the GABA receptor sometimes give rise to autism, according to research published 24 November in Molecular Psychiatry.

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November 2009

Only subset of chromosome 16 variants linked to autism

by  /  20 November 2009

Deletions or duplications of chromosomal segment 16p11.2 — previously reported as a key autism region — are seen in people with developmental delays and speech and behavioral problems, but not necessarily autism. That’s the finding from two large studies published last week of people carrying these rare genetic variations.

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Massive genomics project unveils schizophrenia results

by  /  10 November 2009

The Psychiatric GWAS Consortium has released its first batch of analyses, identifying several significant common variations associated with schizophrenia. The results were presented Sunday at the World Congress of Psychiatric Genetics in San Diego.

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Variants associated with autism over-hyped, company says

by  /  6 November 2009

Variations linked to autism and schizophrenia crop up in people with a large variety of conditions, including bipolar disorder, seizures and obsessive-compulsive disorder, as well as in healthy people. This notion gained new support from unpublished data presented at the World Congress for Psychiatric Genetics in San Diego.

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Point mutation in neuroligin found in brothers with autism

by  /  6 November 2009

A new mutation in the neuroligin-4 (NLGN4) gene, one of the few genes convincingly tied to autism, has been found in two brothers with autism, further implicating the gene in the disorder, scientists reported in the Journal of Neuroscience.

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October 2009

Gene on chromosome 22 leads to autism mouse model

by  /  22 October 2009

Mice lacking a gene located in the chromosomal region 22q13 — which has been linked to autism — have motor learning and social deficits reminiscent of the disorder, according to unpublished findings presented in a poster session yesterday at the Society for Neuroscience meeting in Chicago.

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Video: The challenge of autism’s enormous variability

by  /  20 October 2009

After a Monday afternoon poster session at the Society for Neuroscience meeting in Chicago, Noboru Hiroi talked about the challenges of following up human genetic findings in the mouse.

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