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 familial hyperparathyroidism with a novel mutation of the MEN1 gene.

Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists - 1 Jan 2000

Dwarakanathan A A, Zwart S, Oathus R C

Abstract excerpt

OBJECTIVE: To describe two cases of familial hyperparathyroidism with genetic analysis and report a new gene mutation. METHODS: Clinical and laboratory details of a brother and sister with hyperparathyroidism and nephrolithiasis are presented. The family history is reviewed, and results of direct sequencing analysis for mutations in the MEN1 gene are discussed. RESULTS: Isolated familial hyperparathyroidism is...

Read the complete abstract on PubMed

Topics

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

Share to Exons
Share to Genes, Tumor Suppressor

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hyperparathyroidism

Share to Mutation

Share to Neoplasm Proteins

Share to Pedigree

Share to Polymorphism, Single-Stranded Conformational

Share to Proto-Oncogene Proteins

Source

Identifiers

PMID: 11421544
DOI: 10.4158/EP.6.3.268

Genes

MEN1

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

Isolated familial hyperparathyroidism with a novel mutation of the MEN1 gene.PMID 11421544Read ↗

Familial isolated primary hyperparathyroidism caused by mutations of the MEN1 gene.Semantic proximity Read ↗

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

The MEN1 gene and associated diseases: an update.Semantic proximity Read ↗

Familial isolated primary hyperparathyroidism--a multiple endocrine neoplasia type 1 variant?Semantic proximity Read ↗

A report of a national mutation testing service for the MEN1 gene: clinical presentations and implications for mutation testing.Semantic proximity Read ↗

Familial Isolated Hyperparathyroidism as a Variant of Multiple Endocrine Neoplasia Type 1 in a Large Danish Pedigree<sup>1</sup>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 ↗

Mutation Analysis of the MEN1 Gene in Multiple Endocrine Neoplasia Type 1, Familial Acromegaly and Familial Isolated HyperparathyroidismSemantic proximity Read ↗

New Concepts About Familial Isolated HyperparathyroidismSemantic proximity Read ↗

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

Genetic analyses in familial isolated hyperparathyroidism: implication for clinical assessment and surgical management.Semantic proximity Read ↗

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