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Familial benign hypercalcemia

Known as: Familial Hypocalciuric Hypercalcemia 
A hereditary condition caused by calcium sensing receptor gene mutations, resulting in calcium-hyposensitivity, and compensatory hypercalcemia and… 
National Institutes of Health

Related topics

Related topics

4 relations
Familial hyperparathyroidismHereditary Diseases

Broader (1)

Hyperparathyroidism

Narrower (1)

Hypocalciuric hypercalcemia, familial, type 1

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2000
Review
2000
Mutations of the calcium‐sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia
The calcium‐sensing receptor (CASR) is a plasma membrane G protein coupled receptor that is expressed in the parathyroid hormone… 
Highly Cited
1999
Highly Cited
1999
Localization of familial benign hypercalcemia, Oklahoma variant (FBHOk), to chromosome 19q13.
Calcium homeostasis by the kidneys and parathyroids is mediated by the calcium-sensing receptor (CaSR), which is located on 3q21… 
Highly Cited
1996
Highly Cited
1996
A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor.
BACKGROUND The calcium-sensing receptor regulates the secretion of parathyroid hormone in response to changes in extracellular… 
Review
1996
Review
1996
Defects in G protein-coupled signal transduction in human disease.
  • A. Spiegel
  • Annual review of physiology
  • 1996
  • Corpus ID: 21980272
G proteins couple receptors for many hormones and neurotransmitters to effectors that regulate second messenger metabolism. G… 
Highly Cited
1995
Highly Cited
1995
A mouse model of human familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
Mice lacking the calcium–sensing receptor (Casr) were created to examine the receptor's role in calcium homeostasis and to… 
Highly Cited
1995
Highly Cited
1995
Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism.
Familial benign hypercalcemia (FBH) and neonatal hyperparathyroidism (NHPT) are disorders of calcium homeostasis that are… 
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Highly Cited
1995
Highly Cited
1995
Insertion of an Alu sequence in the Ca(2+)-sensing receptor gene in familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism.
Missense mutations in the calcium-sensing receptor (CaR) gene have previously been identified in patients with familial… 
Highly Cited
1994
Highly Cited
1994
Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Effects of mutant gene dosage on phenotype.
Neonatal severe hyperparathyroidism is a rare life-threatening disorder characterized by very high serum calcium concentrations… 
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Highly Cited
1983
Highly Cited
1983
Urinary calcium excretion in familial hypocalciuric hypercalcemia. Persistence of relative hypocalciuria after induction of hypoparathyroidism.
Familial hypocalciuric hypercalcemia (FHH) is an autosomal dominant trait comprising hypercalcemia, hypophosphatemia, parathyroid… 
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Highly Cited
1982
Highly Cited
1982
An association between neonatal severe primary hyperparathyroidism and familial hypocalciuric hypercalcemia in three kindreds.
Four cases of neonatal severe primary hyperparathyroidism occurred in three families; familial hypocalciuric hypercalcemia was… 
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