ARHGEF9 disease: Phenotype clarification and genotype-phenotype correlation. - Test2 - elhamkhani - TriplyDB

ARHGEF9 disease: Phenotype clarification and genotype-phenotype correlation.

ARHGEF9 disease: Phenotype clarification and genotype-phenotype correlation.

http://www.wikidata.org/entity/Q33733977

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Common Ribs of Inhibitory Synaptic Dysfunction in the Umbrella of Neurodevelopmental Disorders.

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ARHGEF9 disease: Phenotype clarification and genotype-phenotype correlation.

http://www.wikidata.org/entity/Q33733977

description

2017 nî lūn-bûn

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2017 թուականի Մայիսին հրատարակուած գիտական յօդուած

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2017 թվականի մայիսին հրատարակված գիտական հոդված

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2017年の論文

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2017年論文

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2017年論文

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2017年論文

@zh-hk

2017年論文

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2017年論文

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2017年论文

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name

ARHGEF9 disease: Phenotype clarification and genotype-phenotype correlation.

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ARHGEF9 disease: Phenotype clarification and genotype-phenotype correlation.

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type

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ARHGEF9 disease: Phenotype clarification and genotype-phenotype correlation.

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ARHGEF9 disease: Phenotype clarification and genotype-phenotype correlation.

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ARHGEF9 disease: Phenotype clarification and genotype-phenotype correlation.

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ARHGEF9 disease: Phenotype clarification and genotype-phenotype correlation.

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Neurology. Genetics

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ARHGEF9 disease: Phenotype clarification and genotype-phenotype correlation

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Antje Wiesener

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Ashwin B Dalal

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Berge A Minassian

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Christian R Marshall

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Christoph Korenke

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Elliott Sherr

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Elysa Marco

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Felicitas Becker

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Gaetan Lesca

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Gyri Gradek

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P2860

The GDP-GTP exchange factor collybistin: an essential determinant of neuronal gephyrin clustering

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

The role of collybistin in gephyrin clustering at inhibitory synapses: facts and open questions.

A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation.

A family with mental retardation, variable macrocephaly and macro-orchidism, and linkage to Xq12-q21.

Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsy.

Lipid binding defects and perturbed synaptogenic activity of a Collybistin R290H mutant that causes epilepsy and intellectual disability.

Impaired GABAergic transmission and altered hippocampal synaptic plasticity in collybistin-deficient mice

Missense Mutation R338W in ARHGEF9 in a Family with X-linked Intellectual Disability with Variable Macrocephaly and Macro-Orchidism

X-linked mental retardation: focus on synaptic function and plasticity.

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e148

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scholarly article

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10.1212/NXG.0000000000000148

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3

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3

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Vera Kalscheuer

Stephen W. Scherer

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2017-05-26T00:00:00Z

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28589176

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5446782

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