(Q37397686)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23695283%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

title

Neurodevelopmental disorders among individuals with duplication of 4p13 to 4p12 containing a GABAA receptor subunit gene cluster (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23695283%20AND%20SRC:MED&resulttype=core&format=json

neurodevelopmental disorder

1 March 2020

main subject

1 reference

10

1 reference

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1 March 2020

Sayaka Hashimoto

4

1 reference

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1 March 2020

author name string

Michelle B Polan

1

1 reference

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1 March 2020

Matthew T Pastore

2

1 reference

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1 March 2020

Katherine Steingass

3

1 reference

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1 March 2020

Devon L Thrush

5

1 reference

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1 March 2020

Robert Pyatt

6

1 reference

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1 March 2020

Shalini Reshmi

7

1 reference

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1 March 2020

Julie M Gastier-Foster

8

1 reference

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1 March 2020

Caroline Astbury

9

1 reference

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1 March 2020

publication date

22 May 2013

1 reference

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European Journal of Human Genetics

1 March 2020

published in

1 reference

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1 March 2020

volume

22

1 reference

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1 March 2020

issue

1

1 reference

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1 March 2020

page(s)

105-109

1 reference

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The genetic variability and commonality of neurodevelopmental disease

1 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865421

Genomics, intellectual disability, and autism

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865421

Alterations of GABAergic signaling in autism spectrum disorders

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865421

Etiological heterogeneity in autism spectrum disorders: more than 100 genetic and genomic disorders and still counting

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865421

The genetics of neurodevelopmental disease.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865421

Strong genetic evidence for a selective influence of GABAA receptors on a component of the bipolar disorder phenotype

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865421

The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865421

Development of bioinformatics resources for display and analysis of copy number and other structural variants in the human genome.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865421

An inversion inv(4)(p12-p15.3) in autistic siblings implicates the 4p GABA receptor gene cluster

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865421

Identification of significant association and gene-gene interaction of GABA receptor subunit genes in autism

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865421

Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865421

Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865421

Assortative mating in the affective disorders: a systematic review and meta-analysis.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865421

Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865421

A distinctive phenotype associated with an interstitial deletion 6q14 contained within a de novo pericentric inversion 6 (p11.2q15).

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865421

Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865421

Variation in GABA-A subunit gene copy number in an autistic patient with mosaic 4 p duplication (p12p16).

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865421

Case report: autistic disorder and chromosomal abnormality 46, XX duplication (4) p12-p13.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3865421

2 September 2018

Identifiers

DOI

10.1038/EJHG.2013.99

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23695283%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

1 reference

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1 March 2020

PubMed publication ID

23695283

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23695283%20AND%20SRC:MED&resulttype=core&format=json