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

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

The Journal of pediatrics - 1 Jan 1998

Thornton P S, Satin-Smith M S, Herold K, Glaser B, Chiu K C, Nestorowicz A, Permutt M A, Baker L, Stanley C A

Abstract excerpt

We describe three families with hypoglycemia caused by familial hyperinsulinism (HI) in whom vertical transmission of the disorder occurred, suggesting autosomal dominant (AD) inheritance. We therefore examined the relationship between the apparent AD disorder and the more common autosomal recessive (AR) form of HI, which has recently been linked to the sulfonylurea receptor on chromosome 11p15.1. The clinical...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Child

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Child, Preschool

Share to Genes, Dominant

Share to Genetic Linkage

Share to Infant

Share to Infant, Newborn

Source

Identifiers

PMID: 9469993
DOI: 10.1016/s0022-3476(98)70477-9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Familial hyperinsulinism with apparent autosomal dominant inheritance: clinical and genetic differences from the autosomal recessive variant.PMID 9469993Read ↗

A novel syndrome of autosomal-dominant hyperinsulinemic hypoglycemia linked to a mutation in the human insulin receptor gene.Semantic proximity Read ↗

An autosomal dominant form of familial persistent hyperinsulinemic hypoglycemia of infancy, not linked to the sulfonylurea receptor locus.Semantic proximity Read ↗

Dominant SUR1 mutation causing autosomal dominant type 2 diabetes.Semantic proximity Read ↗

Dominantly inherited hyperinsulinaemic hypoglycaemia.Semantic proximity Read ↗

Genetic heterogeneity in familial hyperinsulinism.Semantic proximity Read ↗

Hyperinsulinism caused by paternal-specific inheritance of a recessive mutation in the sulfonylurea-receptor gene.Semantic proximity Read ↗

Dominant form of congenital hyperinsulinism maps to HK1 region on 10q.Semantic proximity Read ↗

Hyperinsulinemic hypoglycemia due to pathogenic INSR variants: metabolic signature, phenotypic overlap, and semidominant inheritance.Semantic proximity Read ↗

Variant in sulfonylurea receptor-1 gene is associated with high insulin concentrations in non-diabetic Mexican Americans: SUR-1 gene variant and hyperinsulinemia.Semantic proximity Read ↗

Clinical and Molecular Characterization of a Dominant Form of Congenital Hyperinsulinism Caused by a Mutation in the High-Affinity Sulfonylurea ReceptorSemantic proximity Read ↗

Dysregulation of insulin secretion in children with congenital hyperinsulinism due to sulfonylurea receptor mutations.Semantic proximity Read ↗

Recombinant mapping of the familial hyperinsulinism gene to an 0.8 cM region on chromosome 11p15.1 and demonstration of a founder effect in Ashkenazi Jews.Semantic proximity Read ↗

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