Familial focal congenital hyperinsulinism (Q35553284)

8 August 2017

Familial focal congenital hyperinsulinism (English)

1 reference

Christine Bellanné-Chantelot

8 August 2017

0 references

8

object named as

Christine Bellanné-Chantelot

1 reference

8 August 2017

Sarah E Flanagan

7

0 references

Sian Ellard

object named as

Sian Ellard

12

0 references

Pascale de Lonlay

3

object named as

Pascale de Lonlay

1 reference

8 August 2017

Dunia Ismail

1

1 reference

8 August 2017

Virpi V Smith

2

1 reference

8 August 2017

Maria-Joao Ribeiro

4

1 reference

8 August 2017

Jacques Rahier

5

1 reference

8 August 2017

Oliver Blankenstein

6

1 reference

8 August 2017

Virginie Verkarre

9

1 reference

8 August 2017

Yves Aigrain

10

1 reference

8 August 2017

Agostino Pierro

11

1 reference

8 August 2017

Khalid Hussain

13

1 reference

8 August 2017

language of work or name

English

0 references

publication date

13 October 2010

1 reference

The Journal of Clinical Endocrinology and Metabolism

8 August 2017

1 reference

8 August 2017

96

1 reference

8 August 2017

1

1 reference

8 August 2017

24-28

1 reference

Update of mutations in the genes encoding the pancreatic beta-cell K(ATP) channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism

8 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3217340

Molecular and immunohistochemical analyses of the focal form of congenital hyperinsulinism

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3217340

Focal and Diffuse Beta Cell Changes in Persistent Hyperinsulinemic Hypoglycemia of Infancy

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3217340

Unbalanced expression of 11p15 imprinted genes in focal forms of congenital hyperinsulinism: association with a reduction to homozygosity of a mutation in ABCC8 or KCNJ11

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3217340

Regulation of pancreas development by hedgehog signaling

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3217340

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3217340

Clinical features of 52 neonates with hyperinsulinism.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3217340

Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3217340

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3217340

Chromosome 11p15 paternal isodisomy in focal forms of neonatal hyperinsulinism

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3217340

Hyperinsulinemic Hypoglycemia in Beckwith-Wiedemann Syndrome due to Defects in the Function of Pancreatic β-Cell Adenosine Triphosphate-Sensitive Potassium Channels

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3217340

p57(KIP2) expression in normal islet cells and in hyperinsulinism of infancy.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3217340

Diffuse and focal nesidioblastosis. A clinicopathological study of 24 patients with persistent neonatal hyperinsulinemic hypoglycemia

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3217340

The Knudson’s Two-Hit Model and Timing of Somatic Mutation May Account for the Phenotypic Diversity of Focal Congenital Hyperinsulinism

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3217340

Developmental biology of the pancreas

15 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20943779

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1210/JC.2010-1524

1 reference

8 August 2017

1 reference

8 August 2017

1 reference