CNVs leading to fusion transcripts in individuals with autism spectrum disorder

CNVs leading to fusion transcripts in individuals with autism spectrum disorder

Čájet eará veršuvnnaid (1)

There is strong evidence that rare copy number variants (CNVs) have a role in susceptibility to autism spectrum disorders (ASDs). Much research has focused on how CNVs mediate a phenotypic effect by altering gene expression levels. We investigated an alternative mechanism whereby CNVs combine the 5′...

Bibliográfalaš dieđut
Váldodahkkit:	Holt, R, Sykes, N, Conceição, I, Cazier, J, Anney, R, Oliveira, G, Gallagher, L, Vicente, A, Monaco, A, Pagnamenta, A
Materiálatiipa:	Journal article
Giella:	English
Almmustuhtton:	2012

Geahča maid

CNVs leading to fusion transcripts in individuals with autism spectrum disorder.
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Polymorphisms in leucine-rich repeat genes are associated with autism spectrum disorder susceptibility in populations of European ancestry
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Gene-ontology enrichment analysis in two independent family-based samples highlights biologically plausible processes for autism spectrum disorders.
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A family with autism and rare copy number variants disrupting the Duchenne/Becker muscular dystrophy gene DMD and TRPM3
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A family with autism and rare copy number variants disrupting the Duchenne/Becker muscular dystrophy gene DMD and TRPM3.
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A family with autism and rare copy number variants disrupting the Duchenne/Becker muscular dystrophy gene DMD and TRPM3.
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Almmustuhtton: (2011)

cnvHap: an integrative population and haplotype-based multiplatform model of SNPs and CNVs.
Dahkki: Coin, L, et al.
Almmustuhtton: (2010)

Linkage and candidate gene studies of autism spectrum disorders in European populations.
Dahkki: Holt, R, et al.
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Accurate distinction of pathogenic from benign CNVs in mental retardation.
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Almmustuhtton: (2010-04-01)

A genome-wide investigation of SNPs and CNVs in schizophrenia.
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Almmustuhtton: (2003)

Copy number variation and association analysis of SHANK3 as a candidate gene for autism in the IMGSAC collection.
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