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Haploinsufficiency of ALX4 as a potential cause of parietal foramina in the 11p11.2 contiguous gene-deletion syndrome
scientific article
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instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PMCID
1288575
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11017806%20AND%20SRC:MED&resulttype=core&format=json
retrieved
31 October 2019
case report
0 references
title
Haploinsufficiency of ALX4 as a potential cause of parietal foramina in the 11p11.2 contiguous gene-deletion syndrome
(English)
1 reference
stated in
Europe PubMed Central
PMCID
1288575
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11017806%20AND%20SRC:MED&resulttype=core&format=json
retrieved
31 October 2019
main subject
haploinsufficiency
0 references
parietal foramina
1 reference
based on heuristic
inferred from title
author
Jose Badano
series ordinal
2
1 reference
stated in
Europe PubMed Central
PMCID
1288575
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11017806%20AND%20SRC:MED&resulttype=core&format=json
retrieved
31 October 2019
author name string
Wu YQ
series ordinal
1
1 reference
stated in
Europe PubMed Central
PMCID
1288575
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11017806%20AND%20SRC:MED&resulttype=core&format=json
retrieved
31 October 2019
McCaskill C
series ordinal
3
1 reference
stated in
Europe PubMed Central
PMCID
1288575
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11017806%20AND%20SRC:MED&resulttype=core&format=json
retrieved
31 October 2019
Vogel H
series ordinal
4
1 reference
stated in
Europe PubMed Central
PMCID
1288575
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11017806%20AND%20SRC:MED&resulttype=core&format=json
retrieved
31 October 2019
Potocki L
series ordinal
5
1 reference
stated in
Europe PubMed Central
PMCID
1288575
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11017806%20AND%20SRC:MED&resulttype=core&format=json
retrieved
31 October 2019
Shaffer LG
series ordinal
6
1 reference
stated in
Europe PubMed Central
PMCID
1288575
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11017806%20AND%20SRC:MED&resulttype=core&format=json
retrieved
31 October 2019
language of work or name
English
0 references
publication date
3 October 2000
1 reference
stated in
Europe PubMed Central
PMCID
1288575
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11017806%20AND%20SRC:MED&resulttype=core&format=json
retrieved
31 October 2019
published in
American Journal of Human Genetics
1 reference
stated in
Europe PubMed Central
PMCID
1288575
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11017806%20AND%20SRC:MED&resulttype=core&format=json
retrieved
31 October 2019
volume
67
1 reference
stated in
Europe PubMed Central
PMCID
1288575
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11017806%20AND%20SRC:MED&resulttype=core&format=json
retrieved
31 October 2019
page(s)
1327-1332
1 reference
stated in
Europe PubMed Central
PMCID
1288575
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11017806%20AND%20SRC:MED&resulttype=core&format=json
retrieved
31 October 2019
issue
5
1 reference
stated in
Europe PubMed Central
PMCID
1288575
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11017806%20AND%20SRC:MED&resulttype=core&format=json
retrieved
31 October 2019
cites work
The molecular basis of Boston-type craniosynostosis: the Pro148-->His mutation in the N-terminal arm of the MSX2 homeodomain stabilizes DNA binding without altering nucleotide sequence preferences
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=1288575
retrieved
24 March 2017
Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions in the short arm of chromosome 11
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=1288575
retrieved
24 March 2017
Identification of mutations in the MSX2 homeobox gene in families affected with foramina parietalia permagna
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=1288575
retrieved
24 March 2017
Msx2 deficiency in mice causes pleiotropic defects in bone growth and ectodermal organ formation
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288575
retrieved
24 March 2017
Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification
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=1288575
retrieved
24 March 2017
Positional cloning of a gene involved in hereditary multiple exostoses
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PubMed Central
reference URL
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24 March 2017
The EXT2 multiple exostoses gene defines a family of putative tumour suppressor genes
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PubMed Central
reference URL
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24 March 2017
A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis
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=1288575
retrieved
24 March 2017
Polydactyly and ectopic ZPA formation in Alx-4 mutant mice
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=1288575
retrieved
24 March 2017
Site-specific heterodimerization by paired class homeodomain proteins mediates selective transcriptional responses
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=1288575
retrieved
27 September 2017
Alx-4: cDNA cloning and characterization of a novel paired-type homeodomain protein
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=1288575
retrieved
27 September 2017
Interstitial deletion of 11(p11.2p12): a newly described contiguous gene deletion syndrome involving the gene for hereditary multiple exostoses (EXT2).
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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=1288575
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27 September 2017
Microdeletion syndromes, balanced translocations, and gene mapping
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PubMed Central
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27 September 2017
Contiguous gene syndromes: a component of recognizable syndromes
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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=1288575
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27 September 2017
Familial interstitial deletion 11(p11.12p12) associated with parietal foramina, brachymicrocephaly, and mental retardation
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=1288575
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30 May 2018
THE EMBRYOLOGICAL DEVELOPMENT OF THE EFFECTS OF STRONG'S LUXOID GENE IN THE MOUSE.
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PubMed Central
reference URL
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29 November 2018
Molecular and clinical examination of an Italian DEFECT 11 family
1 reference
stated in
PubMed Central
reference URL
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29 November 2018
Mutations in mouse Aristaless-like4 cause Strong's luxoid polydactyly.
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288575
retrieved
29 November 2018
Gene for multiple exostoses (EXT2) maps to 11(p11.2p12) and is deleted in patients with a contiguous gene syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0002-9297%2807%2962963-2
retrieved
7 January 2021
Identifiers
DOI
10.1086/321218
1 reference
stated in
Europe PubMed Central
PubMed ID
11017806
retrieved
5 July 2017
10.1016/S0002-9297(07)62963-2
1 reference
stated in
Europe PubMed Central
PMCID
1288575
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11017806%20AND%20SRC:MED&resulttype=core&format=json
retrieved
31 October 2019
PMCID
1288575
1 reference
stated in
Europe PubMed Central
PMCID
1288575
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11017806%20AND%20SRC:MED&resulttype=core&format=json
retrieved
31 October 2019
PubMed ID
11017806
1 reference
stated in
Europe PubMed Central
PMCID
1288575
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11017806%20AND%20SRC:MED&resulttype=core&format=json
retrieved
31 October 2019
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