(Q57278449)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21108403%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

title

Identification of a microdeletion at the 7q33-q35 disrupting the CNTNAP2 gene in a Brazilian stuttering case (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21108403%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

1 reference

2

1 reference

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17 January 2020

Luciana P Maximino

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21108403%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

author name string

Aline L Petrin

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21108403%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Dagma V M Abramides

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21108403%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Sthella Zanchetta

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21108403%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Natalia F Rossi

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21108403%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Antônio Richieri-Costa

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21108403%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Jeffrey C Murray

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21108403%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

language of work or name

English

0 references

publication date

1 December 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21108403%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics

17 January 2020

published in

1 reference

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17 January 2020

volume

152A

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21108403%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

issue

12

1 reference

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17 January 2020

page(s)

3164-3172

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21108403%20AND%20SRC:MED&resulttype=core&format=json

Genetic Factors in Stuttering Confirmed

17 January 2020

cites work

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FAJMG.A.33749

A STANDARD DEFINITION OF STUTTERING.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FAJMG.A.33749

Early childhood stuttering I: persistency and recovery rates

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FAJMG.A.33749

Identification of an autosomal recessive stuttering locus on chromosome 3q13.2-3q13.33.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058358

Mutations in the lysosomal enzyme-targeting pathway and persistent stuttering

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058358

Disruption of CNTNAP2 and additional structural genome changes in a boy with speech delay and autism spectrum disorder.

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058358

Altered effective connectivity and anomalous anatomy in the basal ganglia-thalamocortical circuit of stuttering speakers

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058358

The role of large-scale neural interactions for developmental stuttering

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058358

A functional genetic link between distinct developmental language disorders

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058358

A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058358

Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058358

Exploring the functional role of the CHRM2 gene in human cognition: results from a dense genotyping and brain expression study

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058358

Genome-wide analyses of human perisylvian cerebral cortical patterning.

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058358

Disruption of the CNTNAP2 gene in a t(7;15) translocation family without symptoms of Gilles de la Tourette syndrome.

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058358

Genetic studies of stuttering in a founder population

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058358

M1-M3 muscarinic acetylcholine receptor-deficient mice: novel phenotypes.

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058358

Functional genetic analysis of mutations implicated in a human speech and language disorder

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058358

New complexities in the genetics of stuttering: significant sex-specific linkage signals

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058358

A method for accurate detection of genomic microdeletions using real-time quantitative PCR.

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058358

Genomewide significant linkage to stuttering on chromosome 12.

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058358

M2 muscarinic acetylcholine receptor knock-out mice show deficits in behavioral flexibility, working memory, and hippocampal plasticity.

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058358

Evidence of common and specific genetic effects: association of the muscarinic acetylcholine receptor M2 (CHRM2) gene with alcohol dependence and major depressive syndrome

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058358

2 November 2018

What causes stuttering?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058358

Novel polymorphisms influencing transcription of the human CHRM2 gene in airway smooth muscle

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058358

2 November 2018

THE NATURE OF STUTTERING

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058358

CNTNAP2 is disrupted in a family with Gilles de la Tourette syndrome and obsessive compulsive disorder

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058358

Finding susceptibility genes for developmental disorders of speech: the long and winding road

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058358

SCH 57790, a selective muscarinic M(2) receptor antagonist, releases acetylcholine and produces cognitive enhancement in laboratory animals

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058358

A study of the genetic and environmental etiology of stuttering in a selected twin sample.

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058358

Caspr2, a new member of the neurexin superfamily, is localized at the juxtaparanodes of myelinated axons and associates with K+ channels

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058358

Models of word production

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058358

Cognitive functions of the basal forebrain

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058358

Neurexin IV, caspr and paranodin--novel members of the neurexin family: encounters of axons and glia

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058358

Identification of a novel contactin-associated transmembrane receptor with multiple domains implicated in protein-protein interactions

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058358

Enhanced acetylcholine release in the hippocampus and cortex during acquisition of an operant behavior.

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058358

Young Stutterers’ Nonspeech Behaviors During Stuttering

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3058358

A study of familial stuttering

2 November 2018

1 reference

12 December 2020

Genetic aspects of early childhood stuttering

1 reference

12 December 2020

The genetics of speech and language impairments

1 reference

12 December 2020

Results of a genome-wide linkage scan for stuttering

1 reference

12 December 2020

Identifiers

DOI

10.1002/AJMG.A.33749

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21108403%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21108403%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

PubMed publication ID

21108403

1 reference