16p11.2 Deletion Syndrome

Known as: Chromosome 16p11.2 Deletion Syndrome 
A microdeletion at 16p11.2, characterized by a predisposition to obesity, developmental delay and autism spectrum disorders.
National Institutes of Health

Topic mentions per year

Topic mentions per year

2008-2017
012320082017

Papers overview

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2018
2018
Copy number variants at the chromosomal locus 16p11.2 contribute to neurodevelopmental disorders such as autism spectrum… (More)
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2015
2015
Chromosomal 16p11.2 deletion syndrome frequently presents with intellectual disabilities, speech delays, and autism. Here we… (More)
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2015
2015
Mouse models offer indispensable heuristic tools for studying genetic and environmental causes of neuropsychiatric disorders… (More)
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2014
2014
A deletion on human chromosome 16p11.2 is associated with autism spectrum disorders. We deleted the syntenic region on mouse… (More)
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2014
2014
With the introduction of array comparative genomic hybridization (aCGH) techniques in the diagnostic setting of patients with… (More)
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2013
2013
Rare copy number variants (CNVs) have been established as an important cause of various neurodevelopmental disorders, including… (More)
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2013
2013
Paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC) is caused by mutations in the gene PRRT2 located in 16p11.2… (More)
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2011
2011
One of the recently recognized microdeletion syndromes is the 16p11.2 deletion syndrome (593 kb; ∼29.5 Mb to ∼30.1 Mb… (More)
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Review
2010
Review
2010
OBJECTIVE To describe cognitive and behavioral features of patients with chromosome 16p11.2 deletion syndrome, a recently… (More)
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Review
2008
Review
2008
Array comparative genomic hybridization (array CGH) has revolutionized the cytogenetic testing available for patients with… (More)
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