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Familial hyperparathyroidism

Known as: hyperparathyroidism familial 
 

Topic mentions per year

Topic mentions per year

1966-2017
024619662017

Related topics

Related topics

2 relations
Familial benign hypercalcemia

Broader (1)

Hyperparathyroidism

Related mentions per year

Related mentions per year

1936-2018
19401960198020002020
Familial hyperparathyroidism
Hyperparathyroidism
Familial benign hypercalcemia

Papers overview

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2008
2008
Clinical, genetic, and histopathologic investigation of CDC73-related familial hyperparathyroidism.
CDC73 (HRPT2) germline mutations are responsible for more than half of cases of hyperparathyroidism-jaw tumor syndrome (HPT-JT… (More)
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2008
2008
Familial hyperparathyroidism: surgical outcome after 30 years of follow-up in three families with germline HRPT2 mutations.
BACKGROUND Familial forms of hyperparathyroidism are responsible for approximately 10% of the cases of primary… (More)
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2006
2006
Surgical approach to the patient with familial hyperparathyroidism.
Familial hyperparathyroidism encompasses the diagnoses of multiple endocrine neoplasia (MEN) type 1, MEN type 2A, and familial… (More)
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2004
2004
Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications.
Familial hyperparathyroidism is not uncommon in clinical endocrine practice. It encompasses a spectrum of disorders including… (More)
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Highly Cited
2003
Highly Cited
2003
Somatic and germ-line mutations of the HRPT2 gene in sporadic parathyroid carcinoma.
BACKGROUND We looked for mutations of the HRPT2 gene, which encodes the parafibromin protein, in sporadic parathyroid carcinoma… (More)
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2000
2000
Familial hypercalcemia and hypercalciuria caused by a novel mutation in the cytoplasmic tail of the calcium receptor.
Familial hyperparathyroidism (HPT), characterized by hypercalcemia and hypercalciuria, and familial benign hypocalciuric… (More)
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Highly Cited
1997
Highly Cited
1997
Germline mutations of the MEN1 gene in familial multiple endocrine neoplasia type 1 and related states.
Familial multiple endocrine neoplasia type 1 (FMEN1) is an autosomal dominant trait characterized by tumors of the parathyroids… (More)
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1997
1997
Is familial hyperparathyroidism a unique disease?
BACKGROUND Familial hyperparathyroidism is a rare condition reported to behave more aggressively than sporadic… (More)
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1982
1982
Familial hyperparathyroidism caused by solitary adenomas.
Most cases of familial hyperparathyroidism are due to diffuse chief cell hyperplasia. No documented cases of familial disease… (More)
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1974
1974
Parathyroid carcinoma in familial hyperparathyroidism.
Two families with hereditary hyperparathyroidism are described. One member of each family developed a parathyroid carcinoma. In… (More)
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