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Spectrum: Autism Research News

Tag: copy number variation

November 2011

Video: Turning the brain’s social circuits on and off

by  /  16 November 2011

Matthew Anderson talks to SFARI.org about what mice carrying deletions and duplications of UBE3A could teach us about autism.

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Schizophrenia deletion could rouse silent mutations

by  /  14 November 2011

Deletion of 22q11, a schizophrenia-associated chromosomal region, may activate previously silent mutations, according to unpublished work presented Sunday at the 2011 Society for Neuroscience annual meeting in Washington, D.C.

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‘Outlier’ genes expressed differently in people with autism

by  /  13 November 2011

Individuals who have autism show distinct patterns of gene expression in neurological pathways compared with their unaffected siblings, according to unpublished work presented Saturday at the 2011 Society for Neuroscience annual meeting in Washington, D.C.

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SFN storms the capital

by  /  11 November 2011

We’re headed to Washington, D.C. for the Society for Neuroscience annual meeting, and hope to make your lives a little bit easier by reporting on what matters to you.

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SFN storms the capital

by  /  10 November 2011

We’re headed to Washington, D.C. for the Society for Neuroscience annual meeting, and hope to make your lives a little bit easier by reporting on what matters to you.

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Researchers map genetic variation in mice

by  /  9 November 2011

Researchers have sequenced 17 laboratory mice and mapped 56.7 million single-base DNA variants in their genomes, according to a study published 15 September in Nature. A companion paper in the same issue identifies more than 700,000 structural variants, which are insertions, deletions or other modifications of DNA.

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Genetics: Size of 22q13 deletion predicts clinical features

by  /  4 November 2011

In a study of people missing an autism-linked region on chromosome 22, researchers have found that the larger the deletion, the more likely the individual is to have severe symptoms, from motor and speech delays to a large head and fleshy hands.

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October 2011

Stem cells pinpoint players in nerve cell development

by  /  19 October 2011

Stem cells reprogrammed to become neurons can provide a picture of gene expression in neurons that is traditionally available only from brain tissue.

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Genetics: Mutant mice finger new gene in autism region

by  /  18 October 2011

Deleting one copy of TBX1, a gene located on the autism-linked chromosomal region 22q11.2, leads to social and communication deficits in mice.

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Researchers debut mice with links to Williams syndrome

by  /  17 October 2011

Mouse pups with a duplication of GTF2I, a gene linked to Williams syndrome and autism, show extreme separation anxiety when separated from their mothers, according to unpublished findings presented Thursday at the International Congress of Human Genetics in Montreal, Canada.

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