(Q35793531)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15180145%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

title

Phenotypic variations in patients with a 1630 A>T point mutation in the PAX6 gene (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15180145%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

author name string

Inge De Becker

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15180145%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

Michael Walter

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15180145%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

Léon-Paul Noël

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15180145%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

publication date

1 April 2004

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15180145%20AND%20SRC:MED&resulttype=core&format=json

Canadian Journal of Ophthalmology

29 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15180145%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

volume

39

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15180145%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15180145%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

page(s)

272-278

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15180145%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

1 reference

https://api.crossref.org/works/10.1016%2FS0008-4182%2804%2980125-X

Effects of PAX6 mutations on retinal function: an electroretinographic study

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0008-4182%2804%2980125-X

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0008-4182%2804%2980125-X

Mutation in the PAX6 gene in twenty patients with aniridia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0008-4182%2804%2980125-X

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0008-4182%2804%2980125-X

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0008-4182%2804%2980125-X

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0008-4182%2804%2980125-X

Mutations in the PAX6 gene in patients with hereditary aniridia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0008-4182%2804%2980125-X

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0008-4182%2804%2980125-X

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0008-4182%2804%2980125-X

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0008-4182%2804%2980125-X

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0008-4182%2804%2980125-X

Genotype/phenotype correlations in aniridia.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0008-4182%2804%2980125-X

Results of penetrating keratoplasty in aniridia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0008-4182%2804%2980125-X

10.1016/S0008-4182(04)80125-X

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15180145%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

1 reference