Discover Community Create You

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

Association of GTF2i in the Williams-Beuren syndrome critical region with autism spectrum disorders.

Journal of autism and developmental disorders - 1 Jul 2012

Malenfant Patrick, Liu Xudong, Hudson Melissa L, Qiao Ying, Hrynchak Monica, Riendeau Noémie, Hildebrand M Jeannette, Cohen Ira L, Chudley Albert E, Forster-Gibson Cynthia, Mickelson Elizabeth C R, Rajcan-Separovic Evica, Lewis M E Suzanne, Holden Jeanette J A

Abstract excerpt

Duplications of 7q11.23, deleted in Williams-Beuren Syndrome, have been implicated in autism spectrum disorders (ASDs). A 1.5 Mb duplication was identified in one girl with severe expressive language deficits and anxiety among 1,142 ASD individuals screened for this duplication. Family-based association studies of Tag-SNPs in three genes (STX1A , CYLN2 and GTF2i) in two multiplex autism family cohorts revealed...

Read the complete abstract on PubMed

Topics

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

Share to Anxiety Disorders
Share to Child Development Disorders, Pervasive

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Chromosome Duplication

Share to Interpersonal Relations

Share to Language Development Disorders

Share to Stereotyped Behavior

Share to Transcription Factors, TFII

Share to Williams Syndrome

Source

Identifiers

PMID: 22048961
DOI: 10.1007/s10803-011-1389-4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Association of GTF2i in the Williams-Beuren syndrome critical region with autism spectrum disorders.PMID 22048961Read ↗

Cognitive-behavioral phenotypes of Williams syndrome are associated with genetic variation in the GTF2I gene, in a healthy population.Semantic proximity Read ↗

Haploinsufficiency of Gtf2i, a gene deleted in Williams Syndrome, leads to increases in social interactions.Semantic proximity Read ↗

GTF2I dosage regulates neuronal differentiation and social behavior in 7q11.23 neurodevelopmental disorders.Semantic proximity Read ↗

GTF2I dosage regulates neuronal differentiation and social behavior in 7q11.23 neurodevelopmental disordersSemantic proximity Read ↗

Functions of <i>Gtf2i</i> and <i>Gtf2ird1</i> in the developing brain: transcription, DNA-binding, and long term behavioral consequencesSemantic proximity Read ↗

Duplication of GTF2I results in separation anxiety in mice and humans.Semantic proximity Read ↗

Intracisternal Gtf2i Gene Therapy Ameliorates Deficits in Cognition and Synaptic Plasticity of a Mouse Model of Williams-Beuren Syndrome.Semantic proximity Read ↗

The contribution of GTF2I haploinsufficiency to Williams syndrome.Semantic proximity Read ↗

<i>Gtf2i</i> and <i>Gtf2ird1</i> mutation are not sufficient to reproduce mouse phenotypes caused by the Williams Syndrome critical regionSemantic proximity Read ↗

Consistent hypersocial behavior in mice carrying a deletion of Gtf2i but no evidence of hyposocial behavior with Gtf2i duplication: Implications for Williams-Beuren syndrome and autism spectrum disorder.Semantic proximity Read ↗

Comprehensive Integrative Analyses Identify TIGD5 rs75547282 as a Risk Variant for Autism Spectrum Disorder.Semantic proximity Read ↗

Rare and de novo duplications containing TCF20 are associated with a neurodevelopmental disorder.Semantic proximity Read ↗

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