Pseudohypoparathyroidism

Known as: Pseudohypoparathyroidism [Disease/Finding], SEABRIGHT-BANTAM SYNDROME, pseudo-hypoparathyroidism 
A hereditary syndrome clinically similar to HYPOPARATHYROIDISM. It is characterized by HYPOCALCEMIA; HYPERPHOSPHATEMIA; and associated skeletal… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

1947-2018
0204019472017

Papers overview

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2010
2010
PURPOSE Type I pseudohypoparathyroidism (PHP-I) can be subclassified into Ia and Ib, depending on the presence or absence of… (More)
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Highly Cited
2005
Highly Cited
2005
Epigenetic defects in the imprinted GNAS cluster are associated with pseudohypoparathyroidism type Ib. In two kindreds with this… (More)
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Highly Cited
2003
Highly Cited
2003
Patients with pseudohypoparathyroidism type Ib (PHP-Ib) have hypocalcemia and hyperphosphatemia due to renal parathyroid hormone… (More)
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Highly Cited
2001
Highly Cited
2001
Heterozygous inactivating mutations in the GNAS1 exons (20q13.3) that encode the alpha-subunit of the stimulatory G protein… (More)
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Highly Cited
2000
Highly Cited
2000
Pseudohypoparathyroidism type IB (PHPIB) is characterized by renal resistance to parathyroid hormone (PTH) and the absence of… (More)
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1998
1998
OBJECTIVE Mutations of the GNAS1 gene, which is located on chromosome 20q13.11 and encodes the alpha-subunit of the stimulatory… (More)
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1998
1998
Hypocalcemia and hyperphosphatemia caused by parathyroid hormone (PTH)-resistance are the only discernible abnormalities in… (More)
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Highly Cited
1998
Highly Cited
1998
The GNAS1 gene encodes the alpha subunit of the guanine nucleotide-binding protein Gs, which couples signaling through peptide… (More)
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1977
1977
The diagnosis of acrodysostosis has been differentiated from that of pseudohypoparathyroidism or pseudo-pseudohypoparathyroidism… (More)
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Highly Cited
1969
Highly Cited
1969
Urinary excretion of cyclic adenosine 3',5'-monophosphate (3',5'-AMP) was tested in normal subjects and patients with… (More)
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