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Tag: genetic testing

October 2014
News

Brain development gene emerges as strong autism candidate

by  /  2 October 2014

Hundreds of genes are linked to autism, but most have not been clearly characterized. ADNP is one of a small group of genes that, when mutated, seem to lead to autism in a substantial proportion of cases.
 

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September 2014
News / Toolbox

New algorithm detects DNA insertions and deletions

by  /  10 September 2014

A new algorithm accurately detects large DNA insertions and deletions in the protein-coding regions of the genome.

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June 2014
News

Genetics: Gene linked to adult regression implicated in Rett

by  /  3 June 2014

A teenage girl with Rett syndrome has a mutation in WFR45, a gene that is mutated in people who abruptly lose motor and mental skills in adulthood, according to a study published 13 March in the Journal of Human Genetics.

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May 2014
News

Clinical research: Angelman gene variants alter symptoms

by  /  30 May 2014

The nature of the mutation that leads to Angelman syndrome — a disorder characterized by speech impairment and developmental delays — affects the disorder’s presentation, reports a study published 19 March in Research in Developmental Disabilities.

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February 2014
News

First 1,000 days of life could hold keys to autism

by  /  17 February 2014

Autism researchers have high hopes for a new project called the First 1,000 Days of Life, which aims to follow 5,000 women and their babies from pregnancy through two years after birth.

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January 2014
News

Spontaneous and rare mutations are key in schizophrenia

by  /  30 January 2014

Spontaneous and rare mutations, particularly in genes related to networks that regulate neuronal connections, contribute a small but significant proportion of the risk for schizophrenia, report two large studies published online 22 January in Nature.

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October 2013
Opinion

Slippery SNPs

by  /  29 October 2013

A new analysis strikes down a widely reported study from last year, which claimed that a panel of 237 genetic markers predicts autism.

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September 2013
Opinion

Fragile facts

by  /  13 September 2013

Fragile X syndrome is the leading cause of inherited intellectual disability and often autism, but most people who work with special-needs children lack basic knowledge about the syndrome, according to a new study.

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August 2013
News

Genetics: Genes near Williams region linked to autism traits

by  /  23 August 2013

Genes near the chromosomal region implicated in Williams syndrome are involved in epilepsy and autism-like behaviors, according to a study published 12 June in the European Journal of Human Genetics.

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News / Toolbox

Genetic test highlights autism-linked chromosome blips

by  /  7 August 2013

A new clinical test for duplications or deletions of chromosomal regions is customized to detect more than 380 known changes, including many that are linked to autism. The method was published 24 June in the American Journal of Medical Genetics Part A.

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