Haploinsufficiency of ALX4 as a potential cause of parietal foramina in the 11p11.2 contiguous gene-deletion syndrome (Q24534695)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11017806%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

case report

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title

Haploinsufficiency of ALX4 as a potential cause of parietal foramina in the 11p11.2 contiguous gene-deletion syndrome (English)

1 reference

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31 October 2019

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2

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31 October 2019

author name string

Wu YQ

1

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31 October 2019

McCaskill C

3

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31 October 2019

Vogel H

4

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31 October 2019

Potocki L

5

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31 October 2019

Shaffer LG

6

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31 October 2019

language of work or name

English

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publication date

3 October 2000

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American Journal of Human Genetics

31 October 2019

published in

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31 October 2019

volume

67

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31 October 2019

issue

5

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31 October 2019

page(s)

1327-1332

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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

31 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288575

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288575

Identification of mutations in the MSX2 homeobox gene in families affected with foramina parietalia permagna

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288575

Msx2 deficiency in mice causes pleiotropic defects in bone growth and ectodermal organ formation

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288575

Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288575

Positional cloning of a gene involved in hereditary multiple exostoses

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288575

The EXT2 multiple exostoses gene defines a family of putative tumour suppressor genes

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288575

A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288575

Polydactyly and ectopic ZPA formation in Alx-4 mutant mice

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288575

Site-specific heterodimerization by paired class homeodomain proteins mediates selective transcriptional responses

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288575

Alx-4: cDNA cloning and characterization of a novel paired-type homeodomain protein

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288575

Interstitial deletion of 11(p11.2p12): a newly described contiguous gene deletion syndrome involving the gene for hereditary multiple exostoses (EXT2).

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288575

Microdeletion syndromes, balanced translocations, and gene mapping

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288575

Contiguous gene syndromes: a component of recognizable syndromes

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288575

Familial interstitial deletion 11(p11.12p12) associated with parietal foramina, brachymicrocephaly, and mental retardation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288575

THE EMBRYOLOGICAL DEVELOPMENT OF THE EFFECTS OF STRONG'S LUXOID GENE IN THE MOUSE.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288575

Molecular and clinical examination of an Italian DEFECT 11 family

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288575

Mutations in mouse Aristaless-like4 cause Strong's luxoid polydactyly.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288575

Gene for multiple exostoses (EXT2) maps to 11(p11.2p12) and is deleted in patients with a contiguous gene syndrome

29 November 2018

1 reference

Crossref

https://api.crossref.org/works/10.1016%2FS0002-9297%2807%2962963-2

7 January 2021

Identifiers

DOI

10.1086/321218

1 reference

PubMed ID

11017806

10.1016/S0002-9297(07)62963-2

5 July 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11017806%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11017806%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

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