(Q73706603)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11284764%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

title

Rieger syndrome is associated with PAX6 deletion (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11284764%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

author name string

R Riise

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11284764%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

K Storhaug

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11284764%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

K Brøndum-Nielsen

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11284764%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

publication date

1 April 2001

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11284764%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11284764%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

volume

79

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11284764%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11284764%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

page(s)

201-203

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11284764%20AND%20SRC:MED&resulttype=core&format=json

Dental and craniofacial anomalies of Axenfeld-Rieger syndrome

6 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0420.2001.079002201.X

7 January 2021

Iris dysgenesis with other anomalies

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0420.2001.079002201.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0420.2001.079002201.X

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/10.1034%2FJ.1600-0420.2001.079002201.X

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/10.1034%2FJ.1600-0420.2001.079002201.X

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/10.1034%2FJ.1600-0420.2001.079002201.X

7 January 2021

Cardiovascular anomaly in Rieger Syndrome: heterogeneity or contiguity?

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0420.2001.079002201.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0420.2001.079002201.X

7 January 2021

Small eye (Sey): Cloning and characterization of the murine homolog of the human aniridia gene

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0420.2001.079002201.X

7 January 2021

10.1034/J.1600-0420.2001.079002201.X

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11284764%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

1 reference