(Q52642561)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23918416%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

title

Interstitial 12p13.1 deletion involving GRIN2B in three patients with intellectual disability (English)

1 reference

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6 March 2020

9

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6 March 2020

Caroline Schluth-Bolard

10

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6 March 2020

author name string

Sarra Dimassi

1

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6 March 2020

Joris Andrieux

2

1 reference

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6 March 2020

Audrey Labalme

3

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6 March 2020

Gaétan Lesca

4

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6 March 2020

Marie-Pierre Cordier

5

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6 March 2020

Odile Boute

6

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6 March 2020

Dorothée Neut

7

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6 March 2020

Patrick Edery

8

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6 March 2020

language of work or name

English

0 references

publication date

5 August 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23918416%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics

6 March 2020

published in

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6 March 2020

volume

161A

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6 March 2020

issue

10

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6 March 2020

page(s)

2564-2569

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NMDA receptor GluN2B (GluR epsilon 2/NR2B) subunit is crucial for channel function, postsynaptic macromolecular organization, and actin cytoskeleton at hippocampal CA3 synapses

6 March 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36079

TMPRSS9 and GRIN2B are associated with neuroticism: a genome-wide association study in a European sample.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36079

Abnormal glutamate receptor expression in the medial temporal lobe in schizophrenia and mood disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36079

NMDA receptor subunits: diversity, development and disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36079

Identification of a genetic cluster influencing memory performance and hippocampal activity in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36079

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36079

Developmental regulation of NMDA receptor-mediated synaptic currents at a central synapse

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36079

Expression of the NR2B-NMDA receptor trafficking complex in prefrontal cortex from a group of elderly patients with schizophrenia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36079

MCAF1/AM is involved in Sp1-mediated maintenance of cancer-associated telomerase activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36079

The N-methyl-D-aspartate receptor subunit NR2B: localization, functional properties, regulation, and clinical implications.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36079

Molecular and functional diversity of the NMDA receptor channel

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36079

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36079

Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36079

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36079

Variation in the NMDA receptor 2B subunit gene GRIN2B is associated with differential language lateralization.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36079

NMDA receptor gene variations as modifiers in Huntington disease: a replication study

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36079

Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: array CGH study of 47 unrelated cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36079

Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36079

Genetic enhancement of learning and memory in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36079

Rare mutations in N-methyl-D-aspartate glutamate receptors in autism spectrum disorders and schizophrenia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36079

Genome-wide association study of smoking initiation and current smoking

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36079

A critical role for GluN2B-containing NMDA receptors in cortical development and function

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36079

Diagnostic exome sequencing in persons with severe intellectual disability

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36079

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.36079

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23918416%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

1 reference