(Q45220880)

English

Infantile hyperinsulinism associated with enteropathy, deafness and renal tubulopathy: clinical manifestations of a syndrome caused by a contiguous gene deletion located on chromosome 11p.

scientific article published in December 2004

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Europe PubMed Central

PubMed publication ID

11 December 2017

Infantile hyperinsulinism associated with enteropathy, deafness and renal tubulopathy: clinical manifestations of a syndrome caused by a contiguous gene deletion located on chromosome 11p. (English)

1 reference

Europe PubMed Central

PubMed publication ID

11 December 2017

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inferred from title

Karen E Cosgrove

10

1 reference

Europe PubMed Central

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11 December 2017

author name string

Khalid Hussain

1

1 reference

Europe PubMed Central

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11 December 2017

Maria Bitner-Glindzicz

2

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Europe PubMed Central

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11 December 2017

Diana Blaydon

3

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Europe PubMed Central

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11 December 2017

Keith J Lindley

4

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Europe PubMed Central

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11 December 2017

Dorothy A Thompson

5

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11 December 2017

Tony Kriss

6

1 reference

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11 December 2017

Kaukat Rajput

7

1 reference

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11 December 2017

Dina G Ramadan

8

1 reference

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11 December 2017

Z Al-Mazidi

9

1 reference

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11 December 2017

Mark J Dunne

11

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11 December 2017

Albert Aynsley-Green

12

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11 December 2017

publication date

1 December 2004

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11 December 2017

Journal of Pediatric Endocrinology and Metabolism

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11 December 2017

17

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11 December 2017

12

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11 December 2017

1613-1621

1 reference

Europe PubMed Central

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11 December 2017

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

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2004.17.12.1613

21 January 2018

A point mutation inactivating the sulfonylurea receptor causes the severe form of persistent hyperinsulinemic hypoglycemia of infancy in Finland

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2004.17.12.1613

21 January 2018

Hyperinsulinism of infancy: towards an understanding of unregulated insulin release. European Network for Research into Hyperinsulinism in Infancy.

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2004.17.12.1613

21 January 2018

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

https://api.crossref.org/works/10.1515%2FJPEM.2004.17.12.1613

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2004.17.12.1613

21 January 2018

Persistent hyperinsulinaemic hypoglycaemia of infancy: a heterogeneous syndrome unrelated to nesidioblastosis

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2004.17.12.1613

21 January 2018

Auditory brainstem response in paediatric audiology

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2004.17.12.1613

21 January 2018

Skin ERGs: their effectiveness in paediatric visual assessment, confounding factors, and comparison with ERGs recorded using various types of corneal electrode

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2004.17.12.1613

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2004.17.12.1613

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2004.17.12.1613

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2004.17.12.1613

21 January 2018

Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC.

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2004.17.12.1613

21 January 2018

Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2004.17.12.1613

21 January 2018

Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2004.17.12.1613

21 January 2018

A PDZ protein ushers in new links

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2004.17.12.1613

21 January 2018

Identifiers

10.1515/JPEM.2004.17.12.1613

1 reference

Europe PubMed Central

PubMed publication ID

11 December 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

11 December 2017

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