Home
Random
Nearby
Log in
Settings
Donate
About Wikidata
Disclaimers
Search
(Q28300606)
Watch
English
Clinical utility gene card for: deletion 22q13 syndrome
scientific article
In more languages
edit
Statements
instance of
scholarly article
0 references
title
Clinical utility gene card for: deletion 22q13 syndrome
(English)
0 references
author
Catalina Betancur
series ordinal
2
object named as
Catalina Betancur
0 references
author name string
Katy Phelan
series ordinal
1
0 references
language of work or name
English
0 references
publication date
April 2011
0 references
published in
European Journal of Human Genetics
0 references
volume
19
0 references
issue
4
0 references
cites work
22q13.3 deletion syndrome: clinical and molecular analysis using array CGH
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=3060317
retrieved
20 March 2017
Interstitial 22q13 deletions: genes other than SHANK3 have major effects on cognitive and language development
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=3060317
retrieved
20 March 2017
Contribution of SHANK3 mutations to autism spectrum 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=3060317
retrieved
20 March 2017
22q13.3 deletion syndrome: a recognizable malformation syndrome associated with marked speech and language delay
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=3060317
retrieved
20 March 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=3060317
retrieved
20 March 2017
Identification of a recurrent breakpoint within the SHANK3 gene in 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=3060317
retrieved
20 March 2017
Telomeric 22q13 deletions resulting from rings, simple deletions, and translocations: cytogenetic, molecular, and clinical analyses of 32 new observations
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=3060317
retrieved
20 March 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=3060317
retrieved
20 March 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=3060317
retrieved
20 March 2017
Novel de novo SHANK3 mutation in autistic patients
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FEJHG.2010.193
retrieved
21 January 2018
Identifiers
DOI
10.1038/EJHG.2010.193
0 references
Fatcat ID
release_p3q3e2uwing6dhkoxfufesoguu
0 references
PMCID
3060317
0 references
PubMed ID
21150887
0 references
ResearchGate publication ID
49676665
0 references
Springer Nature article ID
10.1038/ejhg.2010.193
0 references
Sitelinks
Wikipedia
(0 entries)
edit
Wikibooks
(0 entries)
edit
Wikinews
(0 entries)
edit
Wikiquote
(0 entries)
edit
Wikisource
(0 entries)
edit
Wikiversity
(0 entries)
edit
Wikivoyage
(0 entries)
edit
Wiktionary
(0 entries)
edit
Multilingual sites
(0 entries)
edit
