(Q35007203)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21617748%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

title

Asymmetric phenotype of Axenfeld-Rieger anomaly and aniridia associated with a novel PITX2 mutation (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21617748%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

1 reference

Simon K Law

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21617748%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Maha Sami

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21617748%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Natik Piri

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21617748%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Anne L Coleman

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21617748%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Joseph Caprioli

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21617748%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

publication date

6 May 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21617748%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21617748%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

volume

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21617748%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

page(s)

1231-1238

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21617748%20AND%20SRC:MED&resulttype=core&format=json

Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations

2 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3102021

Severe molecular defects of a novel FOXC1 W152G mutation result in aniridia

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3102021

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3102021

Current molecular understanding of Axenfeld-Rieger syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3102021

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3102021

PAX6 and congenital eye malformations.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3102021

Molecular genetics of Axenfeld-Rieger malformations

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3102021

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3102021

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3102021

Axenfeld-Rieger syndrome in the age of molecular genetics

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3102021

Phenotypic variability and asymmetry of Rieger syndrome associated with PITX2 mutations.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3102021

RNA surveillance. Unforeseen consequences for gene expression, inherited genetic disorders and cancer

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3102021

8 July 2018

PAX6 mutations reviewed

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3102021

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3102021

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3102021

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3102021

Rieger's syndrome. A case report with a 15-year follow-up

26 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21617748

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

MESODERMAL DYSGENESIS OF THE ANTERIOR SEGMENT: RIEGER'S ANOMALY

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21617748

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Rieger syndrome is associated with PAX6 deletion

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21617748

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21617748%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

1 reference