(Q21261447)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17134502%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17134502%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

main subject

Axenfeld-Rieger syndrome

1 reference

2

Ivan Bieche

Ivan

Bieche

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17134502%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

11

Jean-Louis

Dufier

Jean-Louis Dufier

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17134502%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

3

Olivier

Roche

Olivier Roche

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17134502%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

author name string

Guillaume de la Houssaye

1

Guillaume

de la Houssaye

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17134502%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

Véronique Vieira

4

Véronique

Vieira

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17134502%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

Ingrid Laurendeau

5

Ingrid

Laurendeau

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17134502%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

Laurence Arbogast

6

Laurence

Arbogast

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17134502%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

Hatem Zeghidi

7

Hatem

Zeghidi

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17134502%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

Philippe Rapp

8

Philippe

Rapp

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17134502%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

Philippe Halimi

9

Philippe

Halimi

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17134502%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

Michel Vidaud

10

Michel

Vidaud

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17134502%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

Maurice Menasche

12

Maurice

Menasche

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17134502%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

Marc Abitbol

13

Marc

Abitbol

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17134502%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

language of work or name

English

0 references

publication date

29 November 2006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17134502%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17134502%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

volume

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17134502%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

issue

1

0 references

page(s)

82

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17134502%20AND%20SRC:MED&resulttype=core&format=json

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

22 December 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684248

Compound developmental eye disorders following inactivation of TGFbeta signaling in neural-crest stem cells

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684248

Identification of FOXC1 as a TGF-beta1 responsive gene and its involvement in negative regulation of cell growth

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684248

Expression of the members of the Ptx family of transcription factors in human pituitary adenomas

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684248

Identification and characterization of the ARP1 gene, a target for the human acute leukemia ALL1 gene

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684248

A second locus for Rieger syndrome maps to chromosome 13q14

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684248

Genetic requirements for the single-strand annealing pathway of double-strand break repair in Saccharomyces cerevisiae

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684248

Current molecular understanding of Axenfeld-Rieger syndrome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684248

Gene expression profiles relate to SS18/SSX fusion type in synovial sarcoma

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684248

Regulated subset of G1 growth-control genes in response to derepression by the Wnt pathway

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684248

Differential regulation of gene expression by PITX2 isoforms

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684248

Axenfeld-Rieger syndrome resulting from mutation of the FKHL7 gene on chromosome 6p25

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684248

Pleiotropic skeletal and ocular phenotypes of the mouse mutation congenital hydrocephalus (ch/Mf1) arise from a winged helix/forkhead transcriptionfactor gene

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684248

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684248

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684248

An Mll-dependent Hox program drives hematopoietic progenitor expansion

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684248

Murine forkhead/winged helix genes Foxc1 (Mf1) and Foxc2 (Mfh1) are required for the early organogenesis of the kidney and urinary tract

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684248

Identification of prognostic signatures in breast cancer microarray data using Bayesian techniques.

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684248

Frameshift mutations and the genetic code. This paper is dedicated to Professor Theodosius Dobzhansky on the occasion of his 66th birthday

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684248

A t(4;22) in a meningioma points to the localization of a putative tumor-suppressor gene

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684248

Tissue inhibitor of metalloproteinases-1 stimulates gene expression in MDA-MB-435 human breast cancer cells by means of its ability to inhibit metalloproteinases

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684248

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684248

Molecular regulation of neural crest 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=1684248

27 September 2017

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-7-82

PITX2 is required for normal development of neurons in the mouse subthalamic nucleus and midbrain.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-7-82

Pitx2 distinguishes subtypes of terminally differentiated neurons in the developing mouse neuroepithelium

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-7-82

Expression of the homeobox gene Pitx2 in neural crest is required for optic stalk and ocular anterior segment development.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-7-82

Identification of target genes regulated by FOXC1 using nickel agarose-based chromatin enrichment

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-7-82

Characterization and prevalence of PITX2 microdeletions and mutations in Axenfeld-Rieger malformations

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-7-82

Novel Molecular Signaling and Classification of Human Clinically Nonfunctional Pituitary Adenomas Identified by Gene Expression Profiling and Proteomic Analyses

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-7-82

Mutations in PITX2 may contribute to cases of omphalocele and VATER-like syndromes

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17134502

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

TaqMan PCR-based gene dosage assay for predictive testing in individuals from a cancer family with INK4 locus haploinsufficiency

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17134502

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/17134502

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1471-2350-7-82

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17134502%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

22 December 2019

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17134502%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

PubMed publication ID

17134502

1 reference