(Q41960749)

14 October 2017

Hyperinsulinism: molecular aetiology of focal disease (English)

1 reference

14 October 2017

Ryan F

1

1 reference

14 October 2017

Devaney D

2

1 reference

14 October 2017

Joyce C

3

1 reference

14 October 2017

Nestorowicz A

4

1 reference

14 October 2017

Permutt MA

5

1 reference

14 October 2017

Glaser B

6

1 reference

14 October 2017

Barton DE

7

1 reference

14 October 2017

Thornton PS

8

1 reference

14 October 2017

language of work or name

English

0 references

publication date

1 November 1998

1 reference

Archives of Disease in Childhood

14 October 2017

1 reference

14 October 2017

79

1 reference

14 October 2017

5

1 reference

14 October 2017

445-447

1 reference

Genetic heterogeneity in familial hyperinsulinism.

14 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1717743

Somatic deletion of the imprinted 11p15 region in sporadic persistent hyperinsulinemic hypoglycemia of infancy is specific of focal adenomatous hyperplasia and endorses partial pancreatectomy

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1717743

Mosaic uniparental disomy in Beckwith-Wiedemann syndrome.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1717743

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1717743

Chromosome 11 allele loss in sporadic insulinoma

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1717743

Familial and sporadic hyperinsulinism: histopathologic findings and segregation analysis support a single autosomal recessive disorder

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1717743

A nonsense mutation in the inward rectifier potassium channel gene, Kir6.2, is associated with familial hyperinsulinism

5 June 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10193261

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Familial hyperinsulinism with apparent autosomal dominant inheritance: Clinical and genetic differences from the autosomal recessive variant

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10193261

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/ADC.79.5.445

1 reference

14 October 2017

1 reference

14 October 2017

PubMed publication ID

10193261

1 reference