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

MEN1 intragenic deletions may represent the most prevalent somatic event in sporadic primary hyperparathyroidism.

European journal of endocrinology - 1 Feb 2013

Alvelos Maria Inês, Vinagre João, Fonseca Elsa, Barbosa Eva, Teixeira-Gomes José, Sobrinho-Simões Manuel, Soares Paula

Abstract excerpt

OBJECTIVE: Primary hyperparathyroidism (pHPT) is characterised by an inappropriate over production of parathyroid hormone and it is the most frequent pathological condition of the parathyroid glands. A minority of the cases belong to familial forms, but most of them are sporadic. The genetic alterations underlying the sporadic forms of pHPT remain poorly understood. The main goal of our study is to perform the...

Read the complete abstract on PubMed

Topics

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

Share to Cyclin-Dependent Kinase Inhibitor p27
Share to Gene Deletion

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hyperparathyroidism

Share to Loss of Heterozygosity

Share to Multiple Endocrine Neoplasia Type 1

Share to Parathyroid Neoplasms

Share to Proto-Oncogene Proteins

Share to Proto-Oncogene Proteins c-ret

Source

Identifiers

PMID: 23093699
DOI: 10.1530/EJE-12-0327

Genes

MEN1
RET
CTNNB1

Variants

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

MEN1 intragenic deletions may represent the most prevalent somatic event in sporadic primary hyperparathyroidism.PMID 23093699Read ↗

Novel somatic MEN1 gene alterations in sporadic primary hyperparathyroidism and correlation with clinical characteristics.Semantic proximity Read ↗

Mutational and large deletion study of genes implicated in hereditary forms of primary hyperparathyroidism and correlation with clinical features.Semantic proximity Read ↗

Molecular genetics and epigenetics of nonfamilial (sporadic) parathyroid tumours.Semantic proximity Read ↗

Multiple endocrine neoplasia type 1 (MEN1) germline mutations in familial isolated primary hyperparathyroidismSemantic proximity Read ↗

UMD-MEN1 Database: An Overview of the 370 MEN1 Variants Present in 1676 Patients From the French PopulationSemantic proximity Read ↗

Somatic mutation of the MEN1 gene in parathyroid tumours.Semantic proximity Read ↗

Molecular basis of symptomatic sporadic primary hyperparathyroidism: New frontiers in pathogenesis.Semantic proximity Read ↗

Clinical testing for mutations in the MEN1 gene in Sweden: a report on 200 unrelated cases.Semantic proximity Read ↗

Genetic analysis of the MEN1 gene and HPRT2 locus in two Italian kindreds with familial isolated hyperparathyroidism.Semantic proximity Read ↗

Involvement of the MEN1 gene locus in familial isolated hyperparathyroidism.Semantic proximity Read ↗

Primary hyperparathyroidism in young patients in Russia: high frequency of hyperparathyroidism-jaw tumor syndromeSemantic proximity Read ↗

Molecular genetic insights into sporadic primary hyperparathyroidismSemantic proximity Read ↗

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