Vascular defects and sensorineural deafness in a mouse model of Norrie disease. (Q48591907)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12040033%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

title

Vascular defects and sensorineural deafness in a mouse model of Norrie disease (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12040033%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

1 reference

Heidi L Rehm

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12040033%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

Duan-Sun Zhang

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12040033%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

M Christian Brown

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12040033%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

Barbara Burgess

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12040033%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

Chris Halpin

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12040033%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

Wolfgang Berger

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12040033%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

Cynthia C Morton

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12040033%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

David P Corey

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12040033%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

Zheng-Yi Chen

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12040033%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

language of work or name

English

0 references

publication date

1 June 2002

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12040033%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

published in

Journal of Neuroscience

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12040033%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

volume

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12040033%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

issue

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12040033%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

page(s)

4286-4292

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12040033%20AND%20SRC:MED&resulttype=core&format=json

Identification of novel missense mutations in the Norrie disease gene associated with one X-linked and four sporadic cases of familial exudative vitreoretinopathy

9 November 2019

cites work

1 reference

12 December 2020

Histopathology of the ears, eyes, and brain in Norrie's disease (oculoacousticocerebral degeneration).

1 reference

12 December 2020

Molecular modelling of the Norrie disease protein predicts a cystine knot growth factor tertiary structure

1 reference

12 December 2020

Norrie disease protein (norrin) forms disulfide-linked oligomers associated with the extracellular matrix

1 reference

12 December 2020

Norrie disease is caused by mutations in an extracellular protein resembling C-terminal globular domain of mucins

1 reference

12 December 2020

Isolation of a candidate gene for Norrie disease by positional cloning

1 reference

12 December 2020

Audiological findings in Norrie's disease

1 reference

12 December 2020

A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy

1 reference

12 December 2020

Two new missense mutations (A105T and C110G) in the Norrin gene in two Italian families with Norrie disease and familial exudative vitreoretinopathy

1 reference

12 December 2020

Norie's disease (atrofia bulborum hereditaria).

1 reference

12 December 2020

Norrie's disease. A congenital progressive oculo-acoustico-cerebral degeneration

1 reference

12 December 2020

Three-dimensional and ultrastructural relationships between intermediate cells and capillaries in the gerbil stria vascularis

1 reference

12 December 2020

Electrophysiological study of norrie's disease: An X-Linked Recessive Trait with Hearing Loss

1 reference

12 December 2020

An animal model for Norrie disease (ND): gene targeting of the mouse ND gene.

1 reference

12 December 2020

Development and regression of cochlear blood vessels in fetal and newborn mice.

1 reference

12 December 2020

Retinal vasculature changes in Norrie disease mice

1 reference

12 December 2020

The effects of furosemide on the endocochlear potential and auditory-nerve fiber tuning curves in cats

1 reference

12 December 2020

Missense mutation (Arg121Trp) in the Norrie disease gene associated with x-linked exudative vitreoretinopathy

1 reference

12 December 2020

Norrie disease gene mutation in a large Costa Rican kindred with a novel phenotype including venous insufficiency.

1 reference

12 December 2020

Missense mutations in the NDP gene in patients with a less severe course of Norrie disease

1 reference

12 December 2020

Identification of a recurrent missense mutation in the Norrie disease gene associated with a simplex case of exudative vitreoretinopathy.

1 reference

12 December 2020

1 reference

12 December 2020

Isolation and characterization of a candidate gene for Norrie disease

1 reference

12 December 2020

Postnatal vascular development in the lateral wall of the cochlear duct of gerbils: quantitative analysis by electron microscopy and confocal laser microscopy

1 reference

12 December 2020

Assessment of hearing in 80 inbred strains of mice by ABR threshold analyses

1 reference

12 December 2020

Targeted deletion of the mouse POU domain gene Brn-3a causes selective loss of neurons in the brainstem and trigeminal ganglion, uncoordinated limb movement, and impaired suckling

1 reference

12 December 2020

10.1523/JNEUROSCI.22-11-04286.2002

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12040033%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12040033%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

1 reference