A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene (Q33916587)

30 July 2017

A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene (English)

1 reference

30 July 2017

1 reference

Bitner-Glindzicz M

1

1 reference

30 July 2017

Lindley KJ

2

1 reference

30 July 2017

Rutland P

3

1 reference

30 July 2017

Blaydon D

4

1 reference

30 July 2017

Smith VV

5

1 reference

30 July 2017

Milla PJ

6

1 reference

30 July 2017

Hussain K

7

1 reference

30 July 2017

Furth-Lavi J

8

1 reference

30 July 2017

Cosgrove KE

9

1 reference

30 July 2017

Shepherd RM

10

1 reference

30 July 2017

Barnes PD

11

1 reference

30 July 2017

O'Brien RE

12

1 reference

30 July 2017

Farndon PA

13

1 reference

30 July 2017

Sowden J

14

1 reference

30 July 2017

Liu XZ

15

1 reference

30 July 2017

Scanlan MJ

16

1 reference

30 July 2017

Malcolm S

17

1 reference

30 July 2017

Dunne MJ

18

1 reference

30 July 2017

Aynsley-Green A

19

1 reference

30 July 2017

Glaser B

20

1 reference

30 July 2017

language of work or name

English

0 references

publication date

1 September 2000

1 reference

30 July 2017

1 reference

30 July 2017

26

1 reference

30 July 2017

1

1 reference

30 July 2017

56-60

1 reference

https://scigraph.springernature.com/pub.10.1038/79178

30 July 2017

0 references

cites work

Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium

1 reference

7 January 2021

A gene for Usher syndrome type I (USH1A) maps to chromosome 14q

1 reference

7 January 2021

Defective myosin VIIA gene responsible for Usher syndrome type 1B

1 reference

7 January 2021

Localization of two genes for Usher syndrome type I to chromosome 11.

1 reference

7 January 2021

Localization of the Usher syndrome type ID gene (Ush1D) to chromosome 10.

1 reference

7 January 2021

A newly identified locus for Usher syndrome type I, USH1E, maps to chromosome 21q21.

1 reference

7 January 2021

Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy

1 reference

7 January 2021

Mutation of the pancreatic islet inward rectifier Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy

1 reference

7 January 2021

Potassium Channels, Sulphonylurea Receptors and Control of Insulin Release

1 reference

7 January 2021

Therapy for persistent hyperinsulinemic hypoglycemia of infancy. Understanding the responsiveness of beta cells to diazoxide and somatostatin

1 reference

7 January 2021

A gene for recessive nonsyndromic sensorineural deafness (DFNB18) maps to the chromosomal region 11p14-p15.1 containing the Usher syndrome type 1C gene.

1 reference

7 January 2021

Loss of functional KATP channels in pancreatic beta-cells causes persistent hyperinsulinemic hypoglycemia of infancy

1 reference

7 January 2021

Identification of an autoimmune enteropathy-related 75-kilodalton antigen

1 reference

7 January 2021

Isoforms of the human PDZ-73 protein exhibit differential tissue expression

1 reference

7 January 2021

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

1 reference

7 January 2021

Neonatal Hyperinsulinism.

1 reference

7 January 2021

PDZ domains: fundamental building blocks in the organization of protein complexes at the plasma membrane

1 reference

7 January 2021

Expression and clustered distribution of an inwardly rectifying potassium channel, KAB-2/Kir4.1, on mammalian retinal Müller cell membrane: their regulation by insulin and laminin signals

1 reference

7 January 2021

Clustering and enhanced activity of an inwardly rectifying potassium channel, Kir4.1, by an anchoring protein, PSD-95/SAP90

1 reference

7 January 2021

An ATP-dependent inwardly rectifying potassium channel, KAB-2 (Kir4. 1), in cochlear stria vascularis of inner ear: its specific subcellular localization and correlation with the formation of endocochlear potential.

1 reference

7 January 2021

Linkage studies of Usher syndrome: analysis of an Acadian kindred in Louisiana.

1 reference

7 January 2021

The hereditary syndrome of congenital deafness and retinitis pigmentosa. (Usher's syndrome)

1 reference

7 January 2021

Genetic heterogeneity in familial hyperinsulinism.

1 reference

7 January 2021

Contig maps and genomic sequencing identify candidate genes in the usher 1C locus

1 reference

7 January 2021

A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C

1 reference

7 January 2021

Identifiers

DOI

10.1038/79178

1 reference

30 July 2017

1 reference