(Q34235432)

31 July 2017

title

High proportion of 22q13 deletions and SHANK3 mutations in Chinese patients with intellectual disability (English)

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disability affecting intellectual abilities

31 July 2017

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intellectual disability

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based on heuristic

inferred from title

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14

Li Jin

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31 July 2017

Xiaohong Gong

1

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31 July 2017

Yu-Wu Jiang

2

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31 July 2017

Xin Zhang

3

1 reference

31 July 2017

Yu An

4

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31 July 2017

Jun Zhang

5

1 reference

31 July 2017

Ye Wu

6

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31 July 2017

Jingmin Wang

7

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31 July 2017

Yangfei Sun

8

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31 July 2017

Yanyan Liu

9

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31 July 2017

Xuewu Gao

10

1 reference

31 July 2017

Yiping Shen

11

1 reference

31 July 2017

Xiru Wu

12

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31 July 2017

Zilong Qiu

13

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31 July 2017

Bai-Lin Wu

15

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31 July 2017

Hongyan Wang

16

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31 July 2017

language of work or name

English

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publication date

11 April 2012

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31 July 2017

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31 July 2017

volume

7

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31 July 2017

issue

4

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31 July 2017

page(s)

e34739

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Creative Commons Attribution 4.0 International

31 July 2017

copyright license

start time

11 April 2012

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

A copy number variation morbidity map of developmental delay

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3324537

SHANK3 mutations identified in autism lead to modification of dendritic spine morphology via an actin-dependent mechanism.

6 July 2018

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Shank3 mutant mice display autistic-like behaviours and striatal dysfunction

6 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3324537

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

6 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3324537

Haploinsufficiency of the autism-associated Shank3 gene leads to deficits in synaptic function, social interaction, and social communication

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3324537

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3324537

Submicroscopic subtelomeric aberrations in Chinese patients with unexplained developmental delay/mental retardation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3324537

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3324537

22q13.3 deletion syndrome: clinical and molecular analysis using array CGH

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3324537

A synaptic trek to autism

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3324537

Array CGH in patients with learning disability (mental retardation) and congenital anomalies: updated systematic review and meta-analysis of 19 studies and 13,926 subjects

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3324537

Genomic microarrays in mental retardation: a practical workflow for diagnostic applications

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3324537

A calcium-dependent switch in a CREST-BRG1 complex regulates activity-dependent gene expression

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3324537

Integrated detection and population-genetic analysis of SNPs and copy number variation

6 July 2018

1 reference

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Deletion 22q13.3 syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3324537

Contribution of SHANK3 mutations to autism spectrum disorder

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3324537

22q13.3 deletion syndrome: a recognizable malformation syndrome associated with marked speech and language delay

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3324537

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3324537

Idiopathic learning disability and genome imbalance

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3324537

Genetics and pathophysiology of mental retardation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3324537

Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3324537

FISH-mapping of a 100-kb terminal 22q13 deletion

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3324537

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3324537

Identification and evaluation of mental retardation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3324537

A familial pericentric inversion of chromosome 22 with a recombinant subject illustrating a 'pure' partial monosomy syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3324537

Novel de novo SHANK3 mutation in autistic patients

6 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0034739

FGF2-induced chromatin remodeling regulates CNTF-mediated gene expression and astrocyte differentiation

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0034739

Shank expression is sufficient to induce functional dendritic spine synapses in aspiny neurons.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0034739

10.1371/JOURNAL.PONE.0034739

21 January 2018

Identifiers

DOI

1 reference

31 July 2017

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31 July 2017

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