(Q34328168)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19513095%20AND%20SRC:MED&resulttype=core&format=json

30 January 2020

review article

1 reference

title

Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19513095%20AND%20SRC:MED&resulttype=core&format=json

30 January 2020

main subject

Axenfeld-Rieger syndrome

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19513095%20AND%20SRC:MED&resulttype=core&format=json

30 January 2020

author name string

Daniella Bach-Holm

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19513095%20AND%20SRC:MED&resulttype=core&format=json

30 January 2020

publication date

10 June 2009

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19513095%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

30 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19513095%20AND%20SRC:MED&resulttype=core&format=json

30 January 2020

volume

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19513095%20AND%20SRC:MED&resulttype=core&format=json

30 January 2020

issue

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19513095%20AND%20SRC:MED&resulttype=core&format=json

30 January 2020

page(s)

1527-1539

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19513095%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/ejhg.2009.93

30 January 2020

exact match

0 references

cites work

A novel mechanistic spectrum underlies glaucoma-associated chromosome 6p25 copy number variation

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Chromosomal rearrangements and novel genes in disorders of eye development, cataract and glaucoma

6 July 2018

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Long-range gene control and genetic disease

6 July 2018

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Molecular and developmental mechanisms of anterior segment dysgenesis.

6 July 2018

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Identification of the first intragenic deletion of the PITX2 gene causing an Axenfeld-Rieger Syndrome: case report

6 July 2018

1 reference

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A review of anterior segment dysgeneses.

6 July 2018

1 reference

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Functional interactions between FOXC1 and PITX2 underlie the sensitivity to FOXC1 gene dose in Axenfeld-Rieger syndrome and anterior segment dysgenesis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987033

Current molecular understanding of Axenfeld-Rieger syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987033

Mutation in PITX2 is associated with ring dermoid of the cornea

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987033

PITX2 gain-of-function in Rieger syndrome eye model.

6 July 2018

1 reference

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Phenotypic and molecular assessment of seven patients with 6p25 deletion syndrome: relevance to ocular dysgenesis and hearing impairment

6 July 2018

1 reference

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Fox's in development and disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987033

A new case of an interstitial deletion (4)(q25q27) characterised by molecular cytogenetic techniques and review of the literature

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987033

A family with Axenfeld-Rieger syndrome and Peters Anomaly caused by a point mutation (Phe112Ser) in the FOXC1 gene

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987033

Molecular genetics of Axenfeld-Rieger malformations

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987033

Differential regulation of gene expression by PITX2 isoforms

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987033

Hypoplastic left heart in a female infant with partial trisomy 4q due to de novo 4;21 translocation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987033

Functional analyses of two newly identified PITX2 mutants reveal a novel molecular mechanism for Axenfeld-Rieger syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987033

A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987033

Rieger syndrome: a clinical, molecular, and biochemical analysis.

6 July 2018

1 reference

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Chromosomal duplication involving the forkhead transcription factor gene FOXC1 causes iris hypoplasia and glaucoma

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987033

Axenfeld-Rieger syndrome in the age of molecular genetics

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987033

Haploinsufficiency of the transcription factors FOXC1 and FOXC2 results in aberrant ocular development

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987033

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987033

Pitx2 regulates lung asymmetry, cardiac positioning and pituitary and tooth morphogenesis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987033

Function of Rieger syndrome gene in left-right asymmetry and craniofacial development

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987033

Dosage requirement of Pitx2 for development of multiple organs

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987033

Roles for the winged helix transcription factors MF1 and MFH1 in cardiovascular development revealed by nonallelic noncomplementation of null alleles

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987033

Expression of the Mf1 gene in developing mouse hearts: implication in the development of human congenital heart defects

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987033

Delineation of two distinct 6p deletion syndromes.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987033

A mutation in the RIEG1 gene associated with Peters' anomaly

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987033

Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987033

The forkhead/winged helix gene Mf1 is disrupted in the pleiotropic mouse mutation congenital hydrocephalus

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987033

The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987033

Mutation in the RIEG1 gene in patients with iridogoniodysgenesis syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987033

Autosomal dominant iris hypoplasia is caused by a mutation in the Rieger syndrome (RIEG/PITX2) gene

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987033

Multiple congenital anomalies including the Rieger eye malformation in a boy with interstitial deletion of (4) (q25-->q27) secondary to a balanced insertion in his normal father: evidence for haplotype insufficiency causing the Rieger malformation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987033

A small deletion of 16q23.1-->16q24.2 [del(16)(q23.1q24.2).ish del(16)(q23.1q24.2)(D16S395+, D16S348-, P5432+)] in a boy with iris coloboma and minor anomalies.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987033

Rieger syndrome locus: a new reciprocal translocation t(4;12)(q25;q15) and a deletion del(4)(q25q27) both break between markers D4S2945 and D4S193

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987033

Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987033

Closing in on the Rieger syndrome gene on 4q25: mapping translocation breakpoints within a 50-kb region.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987033

A second locus for Rieger syndrome maps to chromosome 13q14

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987033

Interstitial deletions 4q21.1q25 and 4q25q27: phenotypic variability and relation to Rieger anomaly

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987033

Rieger syndrome with de novo reciprocal translocation t(1;4) (q23.1;q25).

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987033

Deletions of different segments of the long arm of chromosome 4.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987033

Axenfeld-Rieger syndrome: a theory of mechanism and distinctions from the iridocorneal endothelial syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987033

Neural crest origin of human trabecular meshwork and its implications for the pathogenesis of glaucoma

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987033

Second case report of del(4) (q25q27) and review of the literature

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987033

Evidence that Rieger syndrome maps to 4q25 or 4q27

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987033

Rieger syndrome and interstitial 4q26 deletion

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987033

Is SHORT syndrome another phenotypic variation of PITX2?

6 July 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.93

Subtelomeric 6p deletion: clinical, FISH, and array CGH characterization of two cases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.93

Subtelomeric deletions of chromosome 6p: molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.93

A novel mutation in the FOXC1 gene in a family with Axenfeld-Rieger syndrome and Peters' anomaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.93

The transcription factor gene FOXC1 exhibits a limited role in primary congenital glaucoma.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.93

Heterozygous FOXC1 mutation (M161K) associated with congenital glaucoma and aniridia in an infant and a milder phenotype in her mother.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.93

Variation in residual PITX2 activity underlies the phenotypic spectrum of anterior segment developmental disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.93

Genotype-phenotype correlations in Axenfeld-Rieger malformation and glaucoma patients with FOXC1 and PITX2 mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.93

Safety and efficacy of brimonidine in children with glaucoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.93

External visibility of the region of Schlemm's canal; report on a family with developmental anomalies of cornea, iris, and chamber angle.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987033

Ocular developmental abnormalities and glaucoma associated with interstitial 6p25 duplications and deletions.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987033

Rieger syndrome is associated with PAX6 deletion

27 October 2018

1 reference

12 December 2020

Rearrangement in the PITX2 and MIPOL1 genes in a patient with a t(4;14) chromosome

1 reference

12 December 2020

Analysis of two translocation breakpoints and identification of a negative regulatory element in patients with Rieger's syndrome

1 reference

12 December 2020

Posterior embryotoxon may not be a forme fruste of Axenfeld-Rieger's Syndrome

1 reference

12 December 2020

Congenital corneal leukomas. 1. Central defect in Descemet's membrane

1 reference

12 December 2020

Pericentric inversion and partial monosomy 4q associated with congenital anomalies

1 reference

12 December 2020

The Rieger syndrome and a chromosome 13 deletion

1 reference

12 December 2020

Interstitial deletion of the long arm of chromosome 4

1 reference

12 December 2020

Cytogenetically invisible microdeletions involving PITX2 in Rieger syndrome

1 reference

12 December 2020

Construction and analysis of a sequence-ready map in 4q25: Rieger syndrome can be caused by haploinsufficiency of RIEG, but also by chromosome breaks approximately 90 kb upstream of this gene

1 reference

12 December 2020

Identifiers

DOI

10.1038/EJHG.2009.93

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19513095%20AND%20SRC:MED&resulttype=core&format=json

30 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19513095%20AND%20SRC:MED&resulttype=core&format=json

30 January 2020

PubMed publication ID

19513095

1 reference