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 hypercalcemia and hypercalciuria: no mutations in the Ca2+-sensing receptor gene.

Pediatric nephrology (Berlin, Germany) - 1 Sept 2001

Rodríguez-Soriano J, Vallo A, Quintela M J, Pérez de Nanclares G, Bilbao J R, Castaño L

Abstract excerpt

A 6-year-old boy presented with persistent hypercalcemia, hypercalciuria and nephrocalcinosis from early infancy. His 40-year-old father also had hypercalcemia and hypercalciuria. In both individuals serum values of intact parathyroid hormone (PTH) were repeatedly normal. Although these findings suggest a functional abnormality of the calcium-sensing receptor (CaR), no mutations in coding regions of the CaR gene...

Read the complete abstract on PubMed

Topics

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

Share to Calcium
Share to Hypercalcemia
Share to Hyperparathyroidism

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Infant

Share to Mutation

Share to Parathyroid Hormone

Share to Receptors, Calcium-Sensing

Share to Receptors, Cell Surface

Source

Identifiers

PMID: 11511994
DOI: 10.1007/s004670100652

Genes

PTH

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

Familial hypercalcemia and hypercalciuria: no mutations in the Ca2+-sensing receptor gene.PMID 11511994Read ↗

Familial hypocalciuric hypercalcemia type 1 due to a novel homozygous mutation of the calcium-sensing receptor gene.Semantic proximity Read ↗

Molecular biology and clinical importance of the Ca(2+)-sensing receptor.Semantic proximity Read ↗

No evidence for point mutations of the calcium-sensing receptor in familial idiopathic hypercalciuria.Semantic proximity Read ↗

Mutations of the calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia.Semantic proximity Read ↗

Marked hypercalcemia in a patient with hypocalciuric hypercalcemia without a mutation in the calcium-sensing receptor gene.Semantic proximity Read ↗

Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism associated with mutations in the human Ca2+-sensing receptor gene in three Danish families.Semantic proximity Read ↗

Persistent hypocalcaemia in a Chinese girl due to a novel de-novo activating mutation of the calcium-sensing receptor gene.Semantic proximity Read ↗

Mutations in the Ca(2+)-sensing receptor gene cause autosomal dominant and sporadic hypoparathyroidismSemantic proximity Read ↗

A novel homozygous mutation of the calcium-sensing receptor gene associated with apparent autosomal recessive inheritance of familial hypocalciuric hypercalcemia.Semantic proximity Read ↗

Mutations of calcium-sensing receptor gene: two novel mutations and overview of impact on calcium homeostasis.Semantic proximity Read ↗

Four cases of autosomal dominant hypocalcaemia with hypercalciuria including two with novel mutations in the calcium-sensing receptor gene.Semantic proximity Read ↗

A novel homozygous inactivating mutation of the calcium-sensing receptor causing familial hypocalciuric hypercalcemia complicated with primary hyperparathyroidism due to parathyroid adenoma: A case report.Semantic proximity Read ↗

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