FAQ

Pseudopseudohypoparathyroidism

Known as: Pseudopseudohypoparathyroidisms, Pseudo-Pseudohypoparathyroidism, Pseudopseudo-Hypoparathyroidism 
A form of PSEUDOHYPOPARATHYROIDISM characterized by the same features except for the abnormal response to hormones such as PARATHYROID HORMONE. It is… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

1959-2018
024619592018

Related topics

Related topics

18 relations
Autosomal dominant inheritanceBrachydactylyCalcium Metabolism DisordersCataract
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Related mentions per year

Related mentions per year

1936-2018
19401960198020002020
Pseudopseudohypoparathyroidism
Osteoporosis
Obesity
Cataract
radiotherapeutic
Autosomal dominant inheritance

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2015
2015
Novel microdeletions affecting the GNAS locus in pseudohypoparathyroidism: characterization of the underlying mechanisms.
CONTEXT Pseudohypoparathyroidism type Ia (PHP1A) is a rare endocrine disorder characterized by hypocalcemia, hyperphosphatemia… (More)
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2013
2013
Pseudohypoparathyroidism type Ia and pseudo-pseudohypoparathyroidism: the growing spectrum of GNAS inactivating mutations.
Pseudohypoparathyroidism (PHP) is a rare heterogeneous genetic disorder characterized by end-organ resistance to parathyroid… (More)
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2011
2011
Clinical characterization and identification of two novel mutations of the GNAS gene in patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism.
OBJECTIVE Pseudohypoparathyroidism (PHP) and pseudopseudohypoparathyroidism (PPHP) are rare disorders resulting from genetic and… (More)
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2008
2008
Cognitive impairment is prevalent in pseudohypoparathyroidism type Ia, but not in pseudopseudohypoparathyroidism: possible cerebral imprinting of Gsalpha.
OBJECTIVE Pseudohypoparathyroidism type Ia (PHP-Ia) is a hereditary disorder characterized by resistance to multiple hormones… (More)
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2004
2004
Biallelic expression of the Gsalpha gene in human bone and adipose tissue.
Mutations of the Gsalpha gene inherited from the mother lead to pseudohypoparathyroidism (PHP) type Ia (PHP Ia), in which… (More)
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2001
2001
STK25 is a candidate gene for pseudopseudohypoparathyroidism.
We determined the chromosomal location of the mouse gene Stk25, encoding a member of the Ste20/PAK family of serine/threonine… (More)
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2000
2000
Mutational analysis of GNAS1 in patients with pseudohypoparathyroidism: identification of two novel mutations.
Pseudohypoparathyroidism (PHP) refers to two major variants that generally coexist in the same family, PHP type Ia (PHP Ia), in… (More)
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1994
1994
Parental origin of Gs alpha gene mutations in Albright's hereditary osteodystrophy.
Heterozygous mutations of the Gs alpha gene leading to reduced Gs alpha activity have been identified in patients with Albright's… (More)
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1992
1992
Purified prostaglandin synthase activates aromatic amines to derivatives that are mutagenic to Salmonella typhimurium.
Prostaglandin H synthase (PHS) is widely distributed in mammalian tissues and has the ability to oxidize a variety of mutagens… (More)
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1987
1987
Characterization of the hydroperoxide-reducing activity of human plasma.
A peroxidase was identified in human plasma using a novel peroxidase assay. In this assay both the substrate 5-phenyl-4-pentenyl… (More)
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