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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… Expand
National Institutes of Health

Related topics

Related topics

18 relations
Autosomal dominant inheritanceBrachydactylyCalcium Metabolism DisordersCataract
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Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2015
2015
A positive genotype–phenotype correlation in a large cohort of patients with Pseudohypoparathyroidism Type Ia and Pseudo-pseudohypoparathyroidism and 33 newly identified mutations in the GNAS gene
Maternally inherited inactivating GNAS mutations are the most common cause of parathyroid hormone (PTH) resistance and Albright… Expand
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Highly Cited
2013
Highly Cited
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… Expand
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Review
2008
Review
2008
Physiological functions of the imprinted Gnas locus and its protein variants Galpha(s) and XLalpha(s) in human and mouse.
The stimulatory alpha-subunit of trimeric G-proteins Galpha(s), which upon ligand binding to seven-transmembrane receptors… Expand
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Highly Cited
2007
Highly Cited
2007
Body mass index differences in pseudohypoparathyroidism type 1a versus pseudopseudohypoparathyroidism may implicate paternal imprinting of Galpha(s) in the development of human obesity.
CONTEXT Obesity is a prominent feature of Albright hereditary osteodystrophy (AHO), a disorder caused by heterozygous GNAS… Expand
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2007
2007
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… Expand
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Review
2005
Review
2005
What is and what is not 'Fahr's disease'.
Bilateral almost symmetric calcification involving striatum, pallidum with or without deposits in dentate nucleus, thalamus and… Expand
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Review
2005
Review
2005
GNAS locus and pseudohypoparathyroidism.
Pseudohypoparathyroidism (PHP) is characterized by hypocalcemia and hyperphosphatemia due to resistance to parathyroid hormone… Expand
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Highly Cited
1994
Highly Cited
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… Expand
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Highly Cited
1986
Highly Cited
1986
Activity of the stimulatory guanine nucleotide-binding protein is reduced in erythrocytes from patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism: biochemical, endocrine, and…
Multiple hormone resistance in many patients with pseudohypoparathyroidism (PHP) type Ia and Albright's hereditary osteodystrophy… Expand
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1962
1962
Albright's hereditary osteodystrophy comprising pseudohypoparathyroidism and pseudo-pseudohypoparathyroidism. With a report of two cases representing the complete syndrome occurring in successive…
Excerpt Some 20 years ago Albright, Burnett, Smith, and Parson (1) first called attention to a syndrome in which certain skeletal… Expand
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