Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Rapid genetic analysis in congenital hyperinsulinism.

Hormone research - 1 Jan 2007

Christesen Henrik B T, Brusgaard Klaus, Alm Jan, Sjöblad Sture, Hussain Khalid, Fenger Claus, Rasmussen Lars, Hovendal Claus, Otonkoski Timo, Jacobsen Bendt Brock

Abstract excerpt

BACKGROUND: In severe, medically unresponsive congenital hyperinsulinism (CHI), the histological differentiation of focal versus diffuse disease is vital, since the surgical management is completely different. Genetic analysis may help in the differential diagnosis, as focal CHI is associated with a paternal germline ABCC8 or KCNJ11 mutation and a focal loss of maternal chromosome 11p15, whereas a maternal...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to ATP-Binding Cassette Transporters
Share to Congenital Hyperinsulinism

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Diagnosis, Differential

Share to Potassium Channels

Share to Potassium Channels, Inwardly Rectifying

Share to Preoperative Care

Share to Receptors, Drug

Share to Sulfonylurea Receptors

Source

Identifiers

PMID: 17114887
DOI: 10.1159/000097063

Genes

KCNJ11
ABCC8

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Rapid genetic analysis in congenital hyperinsulinism.PMID 17114887Read ↗

The contribution of rapid KATP channel gene mutation analysis to the clinical management of children with congenital hyperinsulinism.Semantic proximity Read ↗

Clinical and histological heterogeneity of congenital hyperinsulinism due to paternally inherited heterozygous ABCC8/KCNJ11 mutations.Semantic proximity Read ↗

Congenital hyperinsulinism.Semantic proximity Read ↗

Clinical and genetic evaluation of patients with KATP channel mutations from the German registry for congenital hyperinsulinism.Semantic proximity Read ↗

Focal congenital hyperinsulinism resulting from biallelic loss of function of KCNJ11 gene.Semantic proximity Read ↗

The genetics of neonatal hyperinsulinism.Semantic proximity Read ↗

Focal congenital hyperinsulinism managed by medical treatment: a diagnostic algorithm based on molecular genetic screening.Semantic proximity Read ↗

ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism.Semantic proximity Read ↗

Comprehensive Genetic Testing for Clinical Decision-Making in a Patient With Congenital Hyperinsulinism.Semantic proximity Read ↗

The genetic basis of congenital hyperinsulinism.Semantic proximity Read ↗

Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism.Semantic proximity Read ↗

Congenital Hyperinsulinism Caused by Mutations in ABCC8 Gene Associated with Early-Onset Neonatal Hypoglycemia: Genetic Heterogeneity Correlated with Phenotypic Variability.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.