Dysfunction of SHANK2 and CHRNA7 in a patient with intellectual disability and language impairment supports genetic epistasis of the two loci (Q50302712)

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scientific article published on 21 February 2013

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English	Dysfunction of SHANK2 and CHRNA7 in a patient with intellectual disability and language impairment supports genetic epistasis of the two loci	scientific article published on 21 February 2013

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scholarly article

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Europe PubMed Central

PubMed publication ID

2 March 2018

http://europepmc.org/abstract/MED/23350639

Dysfunction of SHANK2 and CHRNA7 in a patient with intellectual disability and language impairment supports genetic epistasis of the two loci (English)

1 reference

Europe PubMed Central

PubMed publication ID

2 March 2018

http://europepmc.org/abstract/MED/23350639

intellectual disability

1 reference

based on heuristic

inferred from title

disability affecting intellectual abilities

1 reference

based on heuristic

inferred from title

author name string

B Chilian

1

1 reference

Europe PubMed Central

PubMed publication ID

2 March 2018

http://europepmc.org/abstract/MED/23350639

H Abdollahpour

2

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Europe PubMed Central

PubMed publication ID

2 March 2018

http://europepmc.org/abstract/MED/23350639

T Bierhals

3

1 reference

Europe PubMed Central

PubMed publication ID

2 March 2018

http://europepmc.org/abstract/MED/23350639

I Haltrich

4

1 reference

Europe PubMed Central

PubMed publication ID

2 March 2018

http://europepmc.org/abstract/MED/23350639

G Fekete

5

1 reference

Europe PubMed Central

PubMed publication ID

2 March 2018

http://europepmc.org/abstract/MED/23350639

I Nagel

6

1 reference

Europe PubMed Central

PubMed publication ID

2 March 2018

http://europepmc.org/abstract/MED/23350639

G Rosenberger

7

1 reference

Europe PubMed Central

PubMed publication ID

2 March 2018

http://europepmc.org/abstract/MED/23350639

K Kutsche

8

1 reference

Europe PubMed Central

PubMed publication ID

2 March 2018

http://europepmc.org/abstract/MED/23350639

publication date

21 February 2013

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Europe PubMed Central

PubMed publication ID

2 March 2018

http://europepmc.org/abstract/MED/23350639

Clinical Genetics

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Europe PubMed Central

PubMed publication ID

2 March 2018

http://europepmc.org/abstract/MED/23350639

84

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Europe PubMed Central

PubMed publication ID

2 March 2018

http://europepmc.org/abstract/MED/23350639

6

1 reference

Europe PubMed Central

PubMed publication ID

2 March 2018

http://europepmc.org/abstract/MED/23350639

560-565

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Europe PubMed Central

PubMed publication ID

2 March 2018

http://europepmc.org/abstract/MED/23350639

Postsynaptic ProSAP/Shank scaffolds in the cross-hair of synaptopathies.

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12105

21 January 2018

Synaptopathies: diseases of the synaptome.

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12105

21 January 2018

Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12105

21 January 2018

Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12105

21 January 2018

Contribution of SHANK3 mutations to autism spectrum disorder

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12105

21 January 2018

Functional impact of global rare copy number variation in autism spectrum disorders

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12105

21 January 2018

SHANK1 Deletions in Males with Autism Spectrum Disorder

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12105

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12105

21 January 2018

De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12105

21 January 2018

Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12105

21 January 2018

Relative burden of large CNVs on a range of neurodevelopmental phenotypes

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12105

21 January 2018

The genetic variability and commonality of neurodevelopmental disease

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12105

21 January 2018

High resolution copy number analysis of IRF4 translocation-positive diffuse large B-cell and follicular lymphomas

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12105

21 January 2018

Phenotypic spectrum associated with CASK loss-of-function mutations

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12105

21 January 2018

Identification, tissue expression, and chromosomal position of a novel gene encoding human ubiquitin-conjugating enzyme E2-230k

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12105

21 January 2018

Induction of ubiquitin-conjugating enzymes during terminal erythroid differentiation

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12105

21 January 2018

Cloning, sequencing and expression of the L5, L21, L27a, L28, S5, S9, S10 and S29 human ribosomal protein mRNAs

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12105

21 January 2018

Extensive gene duplications and a large inversion characterize the human leukocyte receptor cluster

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12105

21 January 2018

Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12105

21 January 2018

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12105

21 January 2018

Expression of Ttyh1, a member of the Tweety family in neurons in vitro and in vivo and its potential role in brain pathology

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12105

21 January 2018

Ttyh1, a Ca(2+)-binding protein localized to the endoplasmic reticulum, is required for early embryonic development

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12105

21 January 2018

Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12105

21 January 2018

Intellectual disability and its relationship to autism spectrum disorders

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12105

21 January 2018

Genetic and epigenetic networks in intellectual disabilities.

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12105

21 January 2018

Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12105

21 January 2018

Nicotinic alpha 7 receptors: synaptic options and downstream signaling in neurons

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12105

21 January 2018

Investigation of modifier genes within copy number variations in Rett syndrome

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12105

21 January 2018

16p11.2-p12.2 duplication syndrome; a genomic condition differentiated from euchromatic variation of 16p11.2.

1 reference

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21 January 2018

Identification and biochemical analysis of GRIN1 and GRIN2.

1 reference

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21 January 2018

Identifiers

10.1111/CGE.12105

1 reference

Europe PubMed Central

PubMed publication ID

2 March 2018

http://europepmc.org/abstract/MED/23350639

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

2 March 2018

http://europepmc.org/abstract/MED/23350639

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