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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… Expand
National Institutes of Health

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Highly Cited
2003
Highly Cited
2003
Antibodies to cell surface receptors can cause endocrine dysfunction by mimicking or blocking the actions of their respective… Expand
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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… Expand
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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… Expand
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Highly Cited
1996
Highly Cited
1996
BACKGROUND The calcium-sensing receptor regulates the secretion of parathyroid hormone in response to changes in extracellular… Expand
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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… Expand
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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… Expand
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Highly Cited
1995
Highly Cited
1995
Familial benign hypercalcemia (FBH) and neonatal hyperparathyroidism (NHPT) are disorders of calcium homeostasis that are… Expand
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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… Expand
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Highly Cited
1994
Highly Cited
1994
Neonatal severe hyperparathyroidism is a rare life-threatening disorder characterized by very high serum calcium concentrations… Expand
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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… Expand
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