(Q33916587)

30 July 2017

title

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

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30 July 2017

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Bitner-Glindzicz M

1

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30 July 2017

Lindley KJ

2

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30 July 2017

Rutland P

3

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Blaydon D

4

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30 July 2017

Smith VV

5

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Milla PJ

6

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Hussain K

7

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Furth-Lavi J

8

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30 July 2017

Cosgrove KE

9

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Shepherd RM

10

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30 July 2017

Barnes PD

11

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30 July 2017

O'Brien RE

12

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30 July 2017

Farndon PA

13

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30 July 2017

Sowden J

14

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Liu XZ

15

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Scanlan MJ

16

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Malcolm S

17

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Dunne MJ

18

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Aynsley-Green A

19

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30 July 2017

Glaser B

20

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30 July 2017

language of work or name

English

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publication date

1 September 2000

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30 July 2017

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30 July 2017

volume

26

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30 July 2017

issue

1

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30 July 2017

page(s)

56-60

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Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium

30 July 2017

cites work

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7 January 2021

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

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7 January 2021

Defective myosin VIIA gene responsible for Usher syndrome type 1B

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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.

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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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.

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7 January 2021

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

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7 January 2021

Identification of an autoimmune enteropathy-related 75-kilodalton antigen

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Neonatal Hyperinsulinism.

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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)

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7 January 2021

Genetic heterogeneity in familial hyperinsulinism.

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7 January 2021

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

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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

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7 January 2021

Identifiers

DOI

10.1038/79178

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30 July 2017

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