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

Isolated autosomal dominant growth hormone deficiency: an evolving pituitary deficit? A multicenter follow-up study.

The Journal of clinical endocrinology and metabolism - 1 Apr 2005

Mullis Primus E, Robinson Iain C A F, Salemi Souzan, Eblé Andrée, Besson Amélie, Vuissoz Jean-Marc, Deladoey Johnny, Simon Dominique, Czernichow Paul, Binder Gerhard

Abstract excerpt

Four distinct familial types of isolated GH deficiency have been described so far, of which type II is the autosomal dominant inherited form. It is mainly caused by mutations within the first 6 bp of intervening sequence 3. However, other splice site and missense mutations have been reported. Based on in vitro experiments and transgenic animal data, there is strong evidence that there is a wide variability in...

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 About Contact Helena Bioinformatics

Share to Child, Preschool

Share to Follow-Up Studies

Share to Human Growth Hormone

Share to Infant

Share to Pituitary Gland

Share to RNA Splicing

Source

Identifiers

PMID: 15671105
DOI: 10.1210/jc.2004-1280

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.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Isolated autosomal dominant growth hormone deficiency: an evolving pituitary deficit? A multicenter follow-up study.PMID 15671105Read ↗

Isolated GH deficiency with dominant inheritance: new mutations, new insights.Semantic proximity Read ↗

A recurring dominant negative mutation causes autosomal dominant growth hormone deficiency--a clinical research center study.Semantic proximity Read ↗

Isolated growth hormone deficiency type II caused by a point mutation that alters both splice site strength and splicing enhancer function.Semantic proximity Read ↗

Splice site mutations in GH1 detected in previously (Genetically) undiagnosed families with congenital isolated growth hormone deficiency type II.Semantic proximity Read ↗

Isolated growth hormone deficiency due to the R183H mutation in GH1: Clinical analysis of a four-generation family.Semantic proximity Read ↗

New GH-1 gene mutations: expanding the spectrum of causes of isolated growth hormone deficiency.Semantic proximity Read ↗

Expanding the spectrum of mutations in GH1 and GHRHR: genetic screening in a large cohort of patients with congenital isolated growth hormone deficiency.Semantic proximity Read ↗

Prevalence of human GH-1 gene alterations in patients with isolated growth hormone deficiency.Semantic proximity Read ↗

Novel mutations in the GH gene (GH1) uncover putative splicing regulatory elements.Semantic proximity Read ↗

Autosomal Dominant Growth Hormone Deficiency (Type II).Semantic proximity Read ↗

Growth hormone insensitivity: pathophysiology, diagnosis, clinical variation and future perspectives.Semantic proximity Read ↗

GH1 splicing is regulated by multiple enhancers whose mutation produces a dominant-negative GH isoform that can be degraded by allele-specific small interfering RNA (siRNA).Semantic proximity Read ↗

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