Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Identification of two inherited copy number variants in a male with autism supports two-hit and compound heterozygosity models of autism.

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics - 1 Sept 2012

Gau Susan Shur-Fen, Liao Hsiao-Mei, Hong Chao-Chun, Chien Wei-Hsien, Chen Chia-Hsiang

Abstract excerpt

Autism is a childhood-onset neurodevelopmental disorder with complex genetic mechanism underlying its etiology. Recent studies revealed that a few single de novo copy number variants of genomic DNA (copy number variants [CNVs]) are pathogenic and causal in some sporadic cases, adding support to the hypothesis that some sporadic autism might be caused by single rare mutation with large clinical effect. In this...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Autistic Disorder
Share to Base Pairing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosome Deletion

Share to Chromosome Duplication

Share to Chromosomes, Human, Pair 4

Share to Chromosomes, Human, Pair 5

Share to DNA Copy Number Variations

Share to Inheritance Patterns

Source

Identifiers

PMID: 22778016
DOI: 10.1002/ajmg.b.32074

Genes

TCERG1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of two inherited copy number variants in a male with autism supports two-hit and compound heterozygosity models of autism.PMID 22778016Read ↗

Copy number variants in extended autism spectrum disorder families reveal candidates potentially involved in autism risk.Semantic proximity Read ↗

Copy number variations independently induce autism spectrum disorder.Semantic proximity Read ↗

Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.Semantic proximity Read ↗

Identification of copy number variants in children and adolescents with autism spectrum disorder: a study from Turkey.Semantic proximity Read ↗

Segregating patterns of copy number variations in extended autism spectrum disorder (ASD) pedigrees.Semantic proximity Read ↗

Strong association of de novo copy number mutations with autism.Semantic proximity Read ↗

Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes.Semantic proximity Read ↗

Copy number variations in Japanese children with autism spectrum disorder.Semantic proximity Read ↗

[Copy number variation analysis of a Chinese Han family with autism spectrum disorder].Semantic proximity Read ↗

Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.Semantic proximity Read ↗

Autism and cytogenetic abnormalities: solving autism one chromosome at a time.Semantic proximity Read ↗

Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.