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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

Papers overview

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Review
2000
Review
2000
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
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
BACKGROUND The calcium-sensing receptor regulates the secretion of parathyroid hormone in response to changes in extracellular… 
Review
1996
Review
1996
  • 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
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
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
Missense mutations in the calcium-sensing receptor (CaR) gene have previously been identified in patients with familial… 
Highly Cited
1994
Highly Cited
1994
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
Familial hypocalciuric hypercalcemia (FHH) is an autosomal dominant trait comprising hypercalcemia, hypophosphatemia, parathyroid… 
  • table I
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Highly Cited
1982
Highly Cited
1982
Four cases of neonatal severe primary hyperparathyroidism occurred in three families; familial hypocalciuric hypercalcemia was…