(Q28252261)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8162071%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

title

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

1 reference

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26 October 2019

1

1 reference

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26 October 2019

Veronica van Heyningen

8

1 reference

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26 October 2019

author name string

J M Fletcher

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8162071%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

T Jordan

3

1 reference

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26 October 2019

A Brown

4

1 reference

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26 October 2019

D Taylor

5

1 reference

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26 October 2019

R J Adams

6

1 reference

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26 October 2019

H H Punnett

7

1 reference

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26 October 2019

language of work or name

English

0 references

publication date

1 February 1994

1 reference

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26 October 2019

1 reference

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26 October 2019

volume

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8162071%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

page(s)

168-173

1 reference

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26 October 2019

issue

2

1 reference

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https://scigraph.springernature.com/pub.10.1038/ng0294-168

26 October 2019

exact match

0 references

cites work

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

1 reference

The human PAX6 gene is mutated in two patients with aniridia

21 April 2017

1 reference

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

21 April 2017

1 reference

Linkage of Rieger syndrome to the region of the epidermal growth factor gene on chromosome 4

21 April 2017

1 reference

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

21 April 2017

1 reference

https://api.crossref.org/works/10.1038%2FNG0294-168

Variable expressivity of autosomal dominant anterior segment mesenchymal dysgenesis in six generations

21 April 2017

1 reference

https://api.crossref.org/works/10.1038%2FNG0294-168

Conservation of a large protein domain in the segmentation gene paired and in functionally related genes of Drosophila.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0294-168

Anterior chamber cleavage syndrome. A stepladder classification.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0294-168

Mesenchymal dysgenesis in Peters' anomaly, sclerocornea and congenital endothelial dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0294-168

Mouse mutations and human disorders are paired

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0294-168

21 January 2018

Disease and development

1 reference

https://api.crossref.org/works/10.1038%2FNG0294-168

Congenital Central Corneal Leukoma (Peters' Anomaly)

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0294-168

7 January 2021

Heterogeneity in dominant anterior segment malformations

1 reference

https://api.crossref.org/works/10.1038%2FNG0294-168

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0294-168

7 January 2021

Pax genes, mutants and molecular function

1 reference

https://api.crossref.org/works/10.1038%2FNG0294-168

7 January 2021

PAX6 mutations in aniridia

1 reference

https://api.crossref.org/works/10.1038%2FNG0294-168

7 January 2021

Zebrafish pax[zf-a]: a paired box-containing gene expressed in the neural tube.

1 reference

https://api.crossref.org/works/10.1038%2FNG0294-168

7 January 2021

The paired box encodes a second DNA-binding domain in the paired homeo domain protein.

1 reference

https://api.crossref.org/works/10.1038%2FNG0294-168

7 January 2021

A mouse model of the aniridia-Wilms tumor deletion syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNG0294-168

7 January 2021

Role for the Wilms tumor gene in genital development?

1 reference

https://api.crossref.org/works/10.1038%2FNG0294-168

7 January 2021

11p13 deletion, Wilms' tumour, and aniridia: unusual genetic, non-ocular and ocular features of three cases

1 reference

https://api.crossref.org/works/10.1038%2FNG0294-168

7 January 2021

Variable expressivity in autosomal dominant aniridia by clinical, electrophysiologic, and angiographic criteria

1 reference

https://api.crossref.org/works/10.1038%2FNG0294-168

7 January 2021

A CONSIDERATION OF ANIRIDIA, WITH A PEDIGREE.

1 reference

https://api.crossref.org/works/10.1038%2FNG0294-168

7 January 2021

Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2

1 reference

https://api.crossref.org/works/10.1038%2FNG0294-168

7 January 2021

High-resolution mapping of human chromosome 11 by in situ hybridization with cosmid clones

1 reference

https://api.crossref.org/works/10.1038%2FNG0294-168

7 January 2021

Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization

1 reference

https://api.crossref.org/works/10.1038%2FNG0294-168

7 January 2021

Identifiers

DOI

10.1038/NG0294-168

2 references

Consolidated OpenCitations Corpus – April 2017

2443680

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8162071%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

2443680

1 reference

Consolidated OpenCitations Corpus – April 2017

Consolidated OpenCitations Corpus – April 2017

2 references

2443680