Association of GTF2i in the Williams-Beuren syndrome critical region with autism spectrum disorders (Q50345678)

5 March 2018

title

Association of GTF2i in the Williams-Beuren syndrome critical region with autism spectrum disorders (English)

1 reference

5 March 2018

main subject

autism spectrum disorder

0 references

autism

0 references

Williams-Beuren syndrome

1 reference

inferred from title

author

Evica Rajcan-Separovic

12

1 reference

5 March 2018

author name string

Patrick Malenfant

1

1 reference

5 March 2018

Xudong Liu

2

1 reference

5 March 2018

Melissa L Hudson

3

1 reference

5 March 2018

Ying Qiao

4

1 reference

5 March 2018

Monica Hrynchak

5

1 reference

5 March 2018

Noémie Riendeau

6

1 reference

5 March 2018

M Jeannette Hildebrand

7

1 reference

5 March 2018

Ira L Cohen

8

1 reference

5 March 2018

Albert E Chudley

9

1 reference

5 March 2018

Cynthia Forster-Gibson

10

1 reference

5 March 2018

Elizabeth C R Mickelson

11

1 reference

5 March 2018

M E Suzanne Lewis

13

1 reference

5 March 2018

Jeanette J A Holden

14

1 reference

5 March 2018

language of work or name

English

0 references

publication date

1 July 2012

1 reference

5 March 2018

Journal of Autism and Developmental Disorders

published in

1 reference

5 March 2018

volume

42

1 reference

5 March 2018

issue

7

1 reference

5 March 2018

page(s)

1459-1469

1 reference

5 March 2018

Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region

cites work

1 reference

https://api.crossref.org/works/10.1007%2FS10803-011-1389-4

A triplication of the Williams-Beuren syndrome region in a patient with mental retardation, a severe expressive language delay, behavioural problems and dysmorphisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10803-011-1389-4

Heterogeneity of glutamatergic and GABAergic release machinery in cerebral cortex: analysis of synaptogyrin, vesicle-associated membrane protein, and syntaxin.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10803-011-1389-4

Language abilities in Williams syndrome: a critical review

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10803-011-1389-4

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10803-011-1389-4

The PDD Behavior Inventory: a rating scale for assessing response to intervention in children with pervasive developmental disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10803-011-1389-4

Autism, language delay and mental retardation in a patient with 7q11 duplication.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10803-011-1389-4

Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10803-011-1389-4

Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10803-011-1389-4

An atypical deletion of the Williams-Beuren syndrome interval implicates genes associated with defective visuospatial processing and autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10803-011-1389-4

Williams-Beuren syndrome: genes and mechanisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10803-011-1389-4

The autism genetic resource exchange: a resource for the study of autism and related neuropsychiatric conditions

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10803-011-1389-4

A candidate X-linked mental retardation gene is a component of a new family of histone deacetylase-containing complexes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10803-011-1389-4

Opposing functions of TFII-I spliced isoforms in growth factor-induced gene expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10803-011-1389-4

De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10803-011-1389-4

Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10803-011-1389-4

II. Hypersociability in Williams Syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10803-011-1389-4

MLPA analysis for a panel of syndromes with mental retardation reveals imbalances in 5.8% of patients with mental retardation and dysmorphic features, including duplications of the Sotos syndrome and Williams-Beuren syndrome regions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10803-011-1389-4

Copy number variation in regions flanked (or unflanked) by duplicons among patients with developmental delay and/or congenital malformations; detection of reciprocal and partial Williams-Beuren duplications.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10803-011-1389-4

Aversion, awareness, and attraction: investigating claims of hyperacusis in the Williams syndrome phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10803-011-1389-4

The DLX1and DLX2 genes and susceptibility to autism spectrum disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10803-011-1389-4

Autism Diagnostic Interview-Revised: a revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10803-011-1389-4

The autism diagnostic observation schedule-generic: a standard measure of social and communication deficits associated with the spectrum of autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10803-011-1389-4

Alternative splicing and promoter use in TFII-I genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10803-011-1389-4

Copy number variants at Williams-Beuren syndrome 7q11.23 region.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10803-011-1389-4

Duplication of the Williams-Beuren critical region: case report and further delineation of the phenotypic spectrum.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10803-011-1389-4

Rearrangements of the Williams-Beuren syndrome locus: molecular basis and implications for speech and language development

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10803-011-1389-4

Clinical and molecular cytogenetic characterisation of a newly recognised microdeletion syndrome involving 2p15-16.1

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10803-011-1389-4

Microtubule "plus-end-tracking proteins": The end is just the beginning

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10803-011-1389-4

Strong association of de novo copy number mutations with autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10803-011-1389-4

Severe expressive-language delay related to duplication of the Williams-Beuren locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10803-011-1389-4

The synaptic vesicle cycle revisited

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10803-011-1389-4

Cortical dysplasia of the left temporal lobe might explain severe expressive-language delay in patients with duplication of the Williams-Beuren locus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10803-011-1389-4

Dysmorphic features, simplified gyral pattern and 7q11.23 duplication reciprocal to the Williams-Beuren deletion.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10803-011-1389-4

Submicroscopic deletions and duplications in individuals with intellectual disability detected by array-CGH

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10803-011-1389-4

Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10803-011-1389-4

Neurochemistry in the pathophysiology of autism.

21 January 2018

1 reference

12 December 2020

Further clinical description of duplication of Williams-Beuren region presenting with congenital glaucoma and brachycephaly

1 reference

12 December 2020

Is it Williams syndrome? GTF2IRD1 implicated in visual-spatial construction and GTF2I in sociability revealed by high resolution arrays

1 reference

12 December 2020

Syntaxin 1A promotes the endocytic sorting of EAAC1 leading to inhibition of glutamate transport

1 reference

12 December 2020

Protein kinase C regulates the interaction between a GABA transporter and syntaxin 1A

1 reference

12 December 2020

Molecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growth

1 reference

12 December 2020

Methods of analysis and resources available for genetic trait mapping

1 reference

12 December 2020

Implementing a unified approach to family-based tests of association.

1 reference

12 December 2020

Identification of novel autism candidate regions through analysis of reported cytogenetic abnormalities associated with autism

1 reference

12 December 2020

Helical extension of the neuronal SNARE complex into the membrane

1 reference

12 December 2020

10.1007/S10803-011-1389-4

Identifiers

DOI

1 reference

5 March 2018

1 reference

5 March 2018