(Q73121121)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12634864%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

title

Screening for PAX6 gene mutations is consistent with haploinsufficiency as the main mechanism leading to various ocular defects (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12634864%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

1 reference

Marie-Claire Vincent

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12634864%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

Anne-Laure Pujo

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12634864%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

David Olivier

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12634864%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

Patrick Calvas

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12634864%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

publication date

1 February 2003

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12634864%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

1 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12634864%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

volume

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12634864%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

page(s)

163-169

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12634864%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12634864%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5200940

1 November 2019

exact match

0 references

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200940

7 January 2021

Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200940

7 January 2021

PAX6 mutations reviewed

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200940

7 January 2021

Mutation in the PAX6 gene in twenty patients with aniridia.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200940

7 January 2021

Cloning of breakpoints of a chromosome translocation identifies the AN2 locus.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200940

7 January 2021

Long-range restriction map around 11p13 aniridia locus

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200940

7 January 2021

Complete physical map of the WAGR region of 11p13 localizes a candidate Wilms' tumor gene

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200940

7 January 2021

Resolution of the two loci for autosomal dominant aniridia, AN1 and AN2, to a single locus on chromosome 11p13

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200940

7 January 2021

Long range physical map of the Wilms' tumor-aniridia region on human chromosome 11.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200940

7 January 2021

Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200940

7 January 2021

Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200940

7 January 2021

The human PAX6 gene is mutated in two patients with aniridia

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200940

7 January 2021

PAX6 missense mutation in isolated foveal hypoplasia

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200940

7 January 2021

A probable case of the homozygous condition of the aniridia gene.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200940

7 January 2021

PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200940

7 January 2021

A new set of primers for mutation analysis of the human PAX6 gene

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200940

7 January 2021

Association analysis of a regulatory promoter polymorphism of the PAX-6 gene with idiopathic generalized epilepsy

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200940

7 January 2021

PAX6 mutations in aniridia

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200940

7 January 2021

FISH studies in a patient with sporadic aniridia and t(7;11) (q31.2;p13)

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200940

7 January 2021

Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200940

7 January 2021

The incidence of PAX6 mutation in patients with simple aniridia: an evaluation of mutation detection in 12 cases.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200940

7 January 2021

3' deletions cause aniridia by preventing PAX6 gene expression

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200940

7 January 2021

Two nonsense mutations of PAX6 in two Japanese aniridia families: case report and review of the literature.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200940

7 January 2021

Polymerase chain reaction-based risk assessment for Wilms tumor in sporadic aniridia.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200940

7 January 2021

Prenatal diagnosis of aniridia.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200940

7 January 2021

Quality control of mRNA function

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200940

7 January 2021

Killing the messenger: new insights into nonsense-mediated mRNA decay

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200940

7 January 2021

Truncation mutations in the transactivation region of PAX6 result in dominant-negative mutants

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200940

7 January 2021

Missense mutation at the C-terminus of PAX6 negatively modulates homeodomain function

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200940

7 January 2021

Abnormally spliced beta-globin mRNAs: a single point mutation generates transcripts sensitive and insensitive to nonsense-mediated mRNA decay

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200940

7 January 2021

Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200940

7 January 2021

A novel PAX6 gene mutation (P118R) in a family with congenital nystagmus associated with a variant form of aniridia

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200940

7 January 2021

Different ocular abnormalities in individuals of a three-generation family caused by a new nonsense mutation in the PST domain of the PAX6 gene. Mutations in brief no. 189. Online

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200940

7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5200940

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12634864%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

1 reference