A framework to identify contributing genes in patients with Phelan-McDermid syndrome.

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Compound phenotype in a girl with r(22), concomitant microdeletion 22q13.32-q13.33 and mosaic monosomy 22.Induced pluripotent stem cells as a tool to study brain circuits in autism-related disorders

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Q54942265-97A7E103-4438-42CF-80B7-20616A1930CA Q58714041-BF9B5308-8F2E-4FB5-9D21-7245AE41A246

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A framework to identify contributing genes in patients with Phelan-McDermid syndrome.

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http://www.wikidata.org/entity/Q47113019

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2017年の論文

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2017年学术文章

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name

A framework to identify contributing genes in patients with Phelan-McDermid syndrome.

@en

A framework to identify contributing genes in patients with Phelan-McDermid syndrome.

@nl

type

Item

label

A framework to identify contributing genes in patients with Phelan-McDermid syndrome.

@en

A framework to identify contributing genes in patients with Phelan-McDermid syndrome.

@nl

prefLabel

A framework to identify contributing genes in patients with Phelan-McDermid syndrome.

@en

A framework to identify contributing genes in patients with Phelan-McDermid syndrome.

@nl

P1476

A framework to identify contributing genes in patients with Phelan-McDermid syndrome

@en

P2093

Abdelamdjid Benmansour

http://www.w3.org/2001/XMLSchema#string

Alain Verloes

http://www.w3.org/2001/XMLSchema#string

Albert David

http://www.w3.org/2001/XMLSchema#string

Alexandra Afenjar

http://www.w3.org/2001/XMLSchema#string

Alexandre Mathieu

http://www.w3.org/2001/XMLSchema#string

Anne-Laure Mosca-Boidron

http://www.w3.org/2001/XMLSchema#string

Aurélia Jacquette

http://www.w3.org/2001/XMLSchema#string

Bertrand Isidor

http://www.w3.org/2001/XMLSchema#string

Boris Keren

http://www.w3.org/2001/XMLSchema#string

Brigitte Benzacken

http://www.w3.org/2001/XMLSchema#string

P2860

Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments

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

Shank3 mutant mice display autistic-like behaviours and striatal dysfunction

The 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome)

Autism-associated SHANK3 haploinsufficiency causes Ih channelopathy in human neurons

Autism Diagnostic Interview-Revised: a revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders

Proline-rich synapse-associated proteins ProSAP1 and ProSAP2 interact with synaptic proteins of the SAPAP/GKAP family

Interaction of alphaPIX (ARHGEF6) with beta-parvin (PARVB) suggests an involvement of alphaPIX in integrin-mediated signaling

Interstitial 22q13 deletions not involving SHANK3 gene: a new contiguous gene syndrome

Association between deletion size and important phenotypes expands the genomic region of interest in Phelan-McDermid syndrome (22q13 deletion syndrome)

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s41525-017-0035-2

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scholarly article

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10.1038/S41525-017-0035-2

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67ad7656ae988037b201f00accd8a2d3f0126530

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English

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P577

2017-10-23T00:00:00Z

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29263841

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P932

5677962

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A framework to identify contributing genes in patients with Phelan-McDermid syndrome.

about

P2860

P2860

A framework to identify contributing genes in patients with Phelan-McDermid syndrome.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P2888

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P356

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P407

P433

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