The incidence of PAX6 mutation in patients with simple aniridia: an evaluation of mutation detection in 12 cases. (Q33678646)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9138149%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

title

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

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3 November 2019

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Veronica van Heyningen

5

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3 November 2019

Isabel Hanson

2

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3 November 2019

author name string

R Axton

1

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3 November 2019

S Danes

3

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3 November 2019

G Sellar

4

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3 November 2019

J Prosser

6

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3 November 2019

language of work or name

English

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publication date

1 April 1997

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Journal of Medical Genetics

3 November 2019

published in

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3 November 2019

volume

34

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3 November 2019

issue

4

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3 November 2019

page(s)

279-286

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PAX6 missense mutation in isolated foveal hypoplasia

3 November 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050912

Isolation of a Pax-6 homolog from the ribbonworm Lineus sanguineus

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050912

PAX6 mutations in aniridia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050912

Genetic identification of Mom-1, a major modifier locus affecting Min-induced intestinal neoplasia in the mouse

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050912

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050912

Two independent and interactive DNA-binding subdomains of the Pax6 paired domain are regulated by alternative splicing

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050912

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050912

Homology of the eyeless gene of Drosophila to the Small eye gene in mice and Aniridia in humans

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050912

Paired box mutations in familial and sporadic aniridia predicts truncated aniridia proteins

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050912

Induction of ectopic eyes by targeted expression of the eyeless gene in Drosophila

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050912

Aniridia-associated cytogenetic rearrangements suggest that a position effect may cause the mutant phenotype

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050912

Mutation of the PAX6 gene in patients with autosomal dominant keratitis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050912

Identification and characterization of a neuroretina-specific enhancer element in the quail Pax-6 (Pax-QNR) gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050912

When cells stop making sense: effects of nonsense codons on RNA metabolism in vertebrate cells.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050912

Pax6: more than meets the eye.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050912

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050912

Pax-6, a murine paired box gene, is expressed in the developing CNS

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050912

Pax: a murine multigene family of paired box-containing genes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050912

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050912

Mouse small eye results from mutations in a paired-like homeobox-containing gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050912

Analysis of the VNTR locus D1S80 by the PCR followed by high-resolution PAGE

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050912

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050912

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050912

The human PAX6 gene is mutated in two patients with aniridia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050912

Detection of point mutations in the p53 gene: Comparison of single-strand conformation polymorphism, constant denaturant gel electrophoresis, and hydroxylamine and osmium tetroxide techniques

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050912

Motion integration across differing image features

30 October 2018

1 reference

12 December 2020

Detection of BRCA1 mutations by the protein truncation test

1 reference

12 December 2020

Nonsense mutations inhibit RNA splicing in a cell-free system: recognition of mutant codon is independent of protein synthesis

1 reference

12 December 2020

Protein truncation test (PTT) for rapid detection of translation-terminating mutations

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.34.4.279

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9138149%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9138149%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

PubMed publication ID

9138149

1 reference