Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux. (Q34314263)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7795640%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

title

Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7795640%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7795640%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

Lisa A Schimmenti

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7795640%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

author name string

Sanyanusin P

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7795640%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

McNoe LA

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7795640%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

Ward TA

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7795640%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

Pierpont ME

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7795640%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

Sullivan MJ

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7795640%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

Eccles MR

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7795640%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

language of work or name

English

0 references

publication date

1 April 1995

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7795640%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7795640%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

volume

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7795640%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

page(s)

358-364

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7795640%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7795640%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/ng0495-358

26 October 2019

exact match

0 references

1 reference

https://api.crossref.org/works/10.1038%2FNG0495-358

Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0495-358

An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0495-358

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0495-358

Deregulation of Pax-2 expression in transgenic mice generates severe kidney abnormalities.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0495-358

Alternative splicing of Pax-8 gene transcripts is developmentally regulated and generates isoforms with different transactivation properties

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0495-358

Comparative analysis of Pax-2 protein distributions during neurulation in mice and zebrafish.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0495-358

splotch (Sp2H), a mutation affecting development of the mouse neural tube, shows a deletion within the paired homeodomain of Pax-3

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0495-358

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0495-358

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0495-358

Optic nerve coloboma associated with renal disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0495-358

7 January 2021

A gene for familial juvenile nephronophthisis (recessive medullary cystic kidney disease) maps to chromosome 2p

1 reference

https://api.crossref.org/works/10.1038%2FNG0495-358

7 January 2021

Senior-Loken syndrome. Case reports of two siblings and association with sensorineural deafness

1 reference

https://api.crossref.org/works/10.1038%2FNG0495-358

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%2FNG0495-358

7 January 2021

The human PAX6 gene is mutated in two patients with aniridia

1 reference

https://api.crossref.org/works/10.1038%2FNG0495-358

7 January 2021

Rearrangement of the PAX3 paired box gene in the paediatric solid tumour alveolar rhabdomyosarcoma

1 reference

https://api.crossref.org/works/10.1038%2FNG0495-358

7 January 2021

Chromosomal localization of seven PAX genes and cloning of a novel family member, PAX-9

1 reference

https://api.crossref.org/works/10.1038%2FNG0495-358

7 January 2021

Kidney and retinal defects (Krd), a transgene-induced mutation with a deletion of mouse chromosome 19 that includes the Pax2 locus

1 reference

https://api.crossref.org/works/10.1038%2FNG0495-358

7 January 2021

Human haploinsufficiency — one for sorrow, two for joy

1 reference

https://api.crossref.org/works/10.1038%2FNG0495-358

7 January 2021

Aberrant expression of Pax-2 in Danforth's short tail (Sd) mice

1 reference

https://api.crossref.org/works/10.1038%2FNG0495-358

7 January 2021

undulated, a mutation affecting the development of the mouse skeleton, has a point mutation in the paired box of Pax 1

1 reference

https://api.crossref.org/works/10.1038%2FNG0495-358

7 January 2021

The role of laminin and the laminin/fibronectin receptor complex in the outgrowth of retinal ganglion cell axons

1 reference

https://api.crossref.org/works/10.1038%2FNG0495-358

7 January 2021

Molecular basis of splotch and Waardenburg Pax-3 mutations

1 reference

https://api.crossref.org/works/10.1038%2FNG0495-358

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%2FNG0495-358

7 January 2021

PAX6 mutations in aniridia

1 reference

https://api.crossref.org/works/10.1038%2FNG0495-358

7 January 2021

Mutations in the PAX6 gene in patients with hereditary aniridia

1 reference

https://api.crossref.org/works/10.1038%2FNG0495-358

7 January 2021

Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association

1 reference

https://api.crossref.org/works/10.1038%2FNG0495-358

7 January 2021

Bardet-Biedl syndrome is linked to DNA markers on chromosome 11q and is genetically heterogeneous.

1 reference

https://api.crossref.org/works/10.1038%2FNG0495-358

7 January 2021

Papillo-renal syndrome. An inherited association of optic disc dysplasia and renal disease. Report and review of the literature

1 reference

https://api.crossref.org/works/10.1038%2FNG0495-358

7 January 2021

Minipreps of DNA from bacteriophage lambda

1 reference

https://api.crossref.org/works/10.1038%2FNG0495-358

7 January 2021

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

1 reference

https://api.crossref.org/works/10.1038%2FNG0495-358

7 January 2021