(Q24548200)

6

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author name string

Lampros A Mavrogiannis

1

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Indira B Taylor

2

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Sally J Davies

3

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José L Olivares

European Journal of Human Genetics

5

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language of work or name

English

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publication date

February 2006

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published in

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volume

14

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issue

2

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page(s)

151-8

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cites work

Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1477589

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1477589

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1477589

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=1477589

Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1477589

Progression of calvarial bone development requires Foxc1 regulation of Msx2 and Alx4

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1477589

Clinical and molecular analysis of nine families with Adams-Oliver syndrome

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1477589

Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic 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=1477589

A survey of TWIST for mutations in craniosynostosis reveals a variable length polyglycine tract in asymptomatic individuals

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1477589

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=1477589

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=1477589

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=1477589

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=1477589

Molecular origins of rapid and continuous morphological evolution

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1477589

Functional domains of paired-like homeoprotein Cart1 and the relationship between dimerization and transcription activity

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1477589

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=1477589

The homeoprotein Alx3 contains discrete functional domains and exhibits cell-specific and selective monomeric binding and transactivation.

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1477589

Proximal 11p deletion syndrome (P11pDS): additional evaluation of the clinical and molecular aspects

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1477589

Msx homeobox gene family and craniofacial development

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1477589

Molecular evolution of the homeodomain family of transcription factors

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1477589

Vertebrate aristaless-related genes

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1477589

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=1477589

Aniridia Caused by a Heritable Chromosome 11 Deletion

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1477589

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=1477589

[Lacunar changes in the parietal bones. Observations on 75 members of a family with an increased occurrece of parietal foramia]

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1477589

Alx4 and Msx2 play phenotypically similar and additive roles in skull vault differentiation

30 May 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201526

Parietal foramina with cleidocranial dysplasia is caused by mutation in MSX2

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201526

Clinical, cytogenetic, and molecular characterization of a patient with a de novo interstitial 22q12 duplication.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201526

DEFECT 11 syndrome associated with agenesis of the corpus callosum

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201526

Familial case of Potocki-Shaffer syndrome associated with microdeletion of EXT2 and ALX4.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201526

A novel locus for parietal foramina maps to chromosome 4q21-q23.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201526

Surgical management of foramina parietalia permagna

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201526

Craniosynostosis with extra copy of MSX2 in a patient with partial 5q-trisomy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201526

Duplication 11p11.3 leads to 14.1 to meiotic crossing--over.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201526

Molecular and clinical examination of an Italian DEFECT 11 family

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201526

Malformation of cortical and vascular development in one family with parietal foramina determined by an ALX4 homeobox gene mutation.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1477589

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

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1477589

[Foramina parietalia permagna]

28 November 2018

1 reference

12 December 2020

Parietal foramina are not synonymous with giant parietal foramina

1 reference

12 December 2020

Foramina parietalia permagna

1 reference

12 December 2020

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

1 reference

12 December 2020

Prenatal sonographic appearance of foramina parietalia permagna

1 reference

12 December 2020

Aplasia cutis congenita and enlarged parietal foramina (Catlin marks) in a family

1 reference

12 December 2020

Foramina parietalia permagna: report of nine cases in one family

1 reference

12 December 2020

Syndromic foramina parietalia permagna

1 reference

12 December 2020