Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders (Q28273097)

1

0 references

Maria Lauri

2

0 references

Sara M Sarasua

3

0 references

Cindy D Skinner

4

0 references

Daniela Buccella

5

0 references

Alka Dwivedi

6

0 references

Daniela Orteschi

7

0 references

Julianne S Collins

8

0 references

Marcella Zollino

9

0 references

Paola Visconti

10

0 references

Barb Dupont

11

0 references

Danilo Tiziano

12

0 references

Richard J Schroer

13

0 references

Giovanni Neri

14

0 references

Roger E Stevenson

15

0 references

Fiorella Gurrieri

16

0 references

Charles E Schwartz

European Journal of Human Genetics

17

0 references

language of work or name

English

0 references

publication date

March 2013

0 references

published in

0 references

volume

21

0 references

issue

3

0 references

page(s)

310-6

0 references

cites work

Importance of Shank3 protein in regulating metabotropic glutamate receptor 5 (mGluR5) expression and signaling at synapses

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573207

Enhanced polyubiquitination of Shank3 and NMDA receptor in a mouse model of autism

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573207

Synaptic dysfunction and abnormal behaviors in mice lacking major isoforms of Shank3

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573207

Shank3 mutant mice display autistic-like behaviours and striatal dysfunction

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573207

Novel variants of the SHANK3 gene in Japanese autistic patients with severe delayed speech development

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573207

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573207

Direct measure of the de novo mutation rate in autism and schizophrenia cohorts

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573207

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573207

Structural variation of chromosomes in autism spectrum disorder

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573207

Reduced social interaction and ultrasonic communication in a mouse model of monogenic heritable autism

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573207

Disruption of neurexin 1 associated with autism spectrum disorder

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573207

Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573207

A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573207

Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573207

Contribution of SHANK3 mutations to autism spectrum disorder

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573207

A neuroligin-3 mutation implicated in autism increases inhibitory synaptic transmission in mice

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573207

Strong association of de novo copy number mutations with autism

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573207

Mapping autism risk loci using genetic linkage and chromosomal rearrangements

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573207

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573207

High frequency of neurexin 1beta signal peptide structural variants in patients with autism

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573207

Dissection of synapse induction by neuroligins: effect of a neuroligin mutation associated with autism

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573207

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573207

Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573207

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573207

Broader autism phenotype: evidence from a family history study of multiple-incidence autism families

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573207

Autism as a strongly genetic disorder: evidence from a British twin study

20 March 2017

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573207

20 March 2017

https://api.crossref.org/works/10.1038%2FEJHG.2012.175

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

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573207

Conserved role of intragenic DNA methylation in regulating alternative promoters

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573207

Prevalence of autism spectrum disorders--Autism and Developmental Disabilities Monitoring Network, 14 sites, United States, 2008

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573207

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573207

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573207

Autism spectrum disorders--a genetics review

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573207

Association study of SHANK3 gene polymorphisms with autism in Chinese Han population

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573207

Copy number variation and association analysis of SHANK3 as a candidate gene for autism in the IMGSAC collection

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573207

Clinical genetics evaluation in identifying the etiology of autism spectrum disorders

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573207

Genetic testing in autism: how much is enough?

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573207

Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573207

Autism as a paradigmatic complex genetic disorder

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573207

Pervasive Developmental Disorders in Preschool Children

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573207

Epi Info: A General-Purpose Microcomputer Program for Public Health Information Systems

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573207

Novel de novo SHANK3 mutation in autistic patients

2 June 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2012.175

Autism and maternally derived aberrations of chromosome 15q.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2012.175

Neuroscience. Autism's cause may reside in abnormalities at the synapse.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2012.175

Heterogeneous dysregulation of microRNAs across the autism spectrum.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2012.175

C-terminal synaptic targeting elements for postsynaptic density proteins ProSAP1/Shank2 and ProSAP2/Shank3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2012.175

DNA methylation regulates tissue-specific expression of Shank3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2012.175

Molecular Cytogenetics of Autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2012.175

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/EJHG.2012.175

1 reference

Dimensions Publication ID

2665193

1033397435

0 references

2665193

1 reference

1 reference

1 reference