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Contribution of SHANK3 mutations to autism spectrum disorder
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title
Contribution of SHANK3 mutations to autism spectrum disorder
(English)
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main subject
autism spectrum disorder
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autism
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author
Lonnie Zwaigenbaum
series ordinal
7
object named as
Lonnie Zwaigenbaum
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Dalila Pinto
object named as
Dalila Pinto
series ordinal
5
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James S. Sutcliffe
object named as
James S Sutcliffe
series ordinal
3
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Peter Szatmari
series ordinal
10
object named as
Peter Szatmari
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Stephen W. Scherer
series ordinal
11
object named as
Stephen W Scherer
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Wendy Roberts
series ordinal
9
object named as
Wendy Roberts
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Bridget A. Fernandez
series ordinal
8
object named as
Bridget Fernandez
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Christian Marshall
series ordinal
2
object named as
Christian R Marshall
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Rainald Moessner
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1
object named as
Rainald Moessner
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Jennifer Skaug
series ordinal
4
object named as
Jennifer Skaug
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author name string
John Vincent
series ordinal
6
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language of work or name
English
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publication date
December 2007
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published in
American Journal of Human Genetics
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volume
81
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issue
6
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page(s)
1289-97
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cites work
DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2276348
retrieved
7 April 2017
Strong association of de novo copy number mutations with autism
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2276348
retrieved
7 April 2017
Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2276348
retrieved
7 April 2017
Global variation in copy number in the human genome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2276348
retrieved
7 April 2017
High frequency of neurexin 1beta signal peptide structural variants in patients with autism
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2276348
retrieved
7 April 2017
A haplotype map of the human genome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2276348
retrieved
7 April 2017
Severe expressive-language delay related to duplication of the Williams-Beuren locus
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2276348
retrieved
7 April 2017
Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2276348
retrieved
7 April 2017
Human chromosome 7: DNA sequence and biology
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2276348
retrieved
7 April 2017
Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2276348
retrieved
7 April 2017
Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2276348
retrieved
7 April 2017
Inference of population structure using multilocus genotype data
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2276348
retrieved
7 April 2017
Searching for ways out of the autism maze: genetic, epigenetic and environmental clues
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2276348
retrieved
7 April 2017
Inference of population structure using multilocus genotype data: linked loci and correlated allele frequencies
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2276348
retrieved
7 April 2017
Mapping autism risk loci using genetic linkage and chromosomal rearrangements
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2276348
retrieved
7 April 2017
Detection of large-scale variation in the human genome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2276348
retrieved
7 April 2017
Neuroligins determine synapse maturation and function
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2276348
retrieved
7 April 2017
A novel splicing mutation in KCNQ2 in a multigenerational family with BFNC followed for 25 years
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2276348
retrieved
7 April 2017
An architectural framework that may lie at the core of the postsynaptic density
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2276348
retrieved
7 April 2017
The complexity of PDZ domain-mediated interactions at glutamatergic synapses: a case study on neuroligin
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2276348
retrieved
7 April 2017
A forkhead-domain gene is mutated in a severe speech and language disorder
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2276348
retrieved
7 April 2017
Proline-rich synapse-associated protein-1/cortactin binding protein 1 (ProSAP1/CortBP1) is a PDZ-domain protein highly enriched in the postsynaptic density
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2276348
retrieved
7 April 2017
Autism as a strongly genetic disorder: evidence from a British twin study
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2276348
retrieved
7 April 2017
Myt1 family recruits histone deacetylase to regulate neural transcription
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2276348
retrieved
7 April 2017
Most rare missense alleles are deleterious in humans: implications for complex disease and association studies
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2276348
retrieved
28 September 2017
Accurate and reliable high-throughput detection of copy number variation in the human genome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2276348
retrieved
28 September 2017
Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2276348
retrieved
28 September 2017
Structural variants: changing the landscape of chromosomes and design of disease studies
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2276348
retrieved
28 September 2017
Identification of novel autism candidate regions through analysis of reported cytogenetic abnormalities associated with autism
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2276348
retrieved
28 September 2017
Pervasive developmental disorders in preschool children: confirmation of high prevalence
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2276348
retrieved
28 September 2017
Autism as a paradigmatic complex genetic disorder
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2276348
retrieved
28 September 2017
Benign familial neonatal convulsions: always benign?
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2276348
retrieved
28 November 2018
Mutations in the ribosomal protein gene RPL10 suggest a novel modulating disease mechanism for autism.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2276348
retrieved
28 November 2018
Combining information from multiple sources in the diagnosis of autism spectrum disorders.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2276348
retrieved
28 November 2018
Optimized SYBR green real-time PCR assay to quantify the absolute copy number of measles virus RNAs using gene specific primers
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2276348
retrieved
28 November 2018
Shank expression is sufficient to induce functional dendritic spine synapses in aspiny neurons.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2276348
retrieved
28 November 2018
Genetic evaluation of pervasive developmental disorders: the terminal 22q13 deletion syndrome may represent a recognizable phenotype.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2276348
retrieved
28 November 2018
Molecular Cytogenetics of Autism
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1086%2F522590
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1086/522590
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
478392
OpenCitations bibliographic resource ID
478392
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
478392
PMC publication ID
2276348
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
478392
PubMed publication ID
17999366
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
478392
ResearchGate publication ID
5848287
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