(Q24290588)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11106354%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

title

The ALX4 homeobox gene is mutated in patients with ossification defects of the skull (foramina parietalia permagna, OMIM 168500) (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11106354%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

0 references

1 reference

GOA release 2020-03-11

skeletal system development

1 reference

GOA release 2020-03-11

author

Wim Van Hul

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11106354%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

author name string

W Wuyts

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11106354%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

E Cleiren

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11106354%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

T Homfray

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11106354%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

A Rasore-Quartino

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11106354%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

F Vanhoenacker

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11106354%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

language of work or name

English

0 references

publication date

1 December 2000

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11106354%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

2 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11106354%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

volume

37

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11106354%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

page(s)

916-920

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11106354%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

issue

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11106354%20AND%20SRC:MED&resulttype=core&format=json

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

2 November 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734509

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734509

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734509

Positional cloning of a gene involved in hereditary multiple exostoses

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734509

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734509

Alx-4, a transcriptional activator whose expression is restricted to sites of epithelial-mesenchymal interactions

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734509

Polydactyly and ectopic ZPA formation in Alx-4 mutant mice

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734509

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734509

Homeodomain-DNA recognition

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734509

Cooperative dimerization of paired class homeo domains on DNA.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734509

Homeodomain proteins. Cooperating to be different

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734509

Parietal foramina in Saethre-Chotzen syndrome.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734509

Molecular and clinical examination of an Italian DEFECT 11 family

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734509

The role of Alx-4 in the establishment of anteroposterior polarity during vertebrate limb development.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734509

Seizures associated with the Catlin mark

29 November 2018

1 reference

12 December 2020

Evolution of persistently enlarged parietal foramina

1 reference

12 December 2020

Hereditary enlarged parietal foramina (foramina parietalia permagna). Prenatal diagnosis, evolution and family study

1 reference

12 December 2020

Enlarged parietal foramina: association with cerebral venous and cortical anomalies

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.37.12.916

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11106354%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11106354%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

1 reference