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PSEUDOHYPOPARATHYROIDISM, TYPE IB

Known as: Pseudohypoparathyroidisms, Type Ib, PHP IB, PHD Ib 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

2003-2017
024620032017

Related topics

Related topics

4 relations
Autosomal dominant inheritanceGNAS wt AlleleHyperphosphatemia (disorder)

Broader (1)

Pseudohypoparathyroidism

Related mentions per year

Related mentions per year

1938-2018
19401960198020002020
PSEUDOHYPOPARATHYROIDISM, TYPE IB
Autosomal dominant inheritance
Hyperphosphatemia (disorder)
GNAS wt Allele
Pseudohypoparathyroidism

Papers overview

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2017
2017
A Large Inversion Involving GNAS Exon A/B and All Exons Encoding Gsα Is Associated With Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B).
Pseudohypoparathyroidism type Ib (PHP1B) is characterized primarily by resistance to parathyroid hormone (PTH) and thus… (More)
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2017
2017
Pseudohypoparathyroidism type 1B associated with assisted reproductive technology.
Evidence suggests an increased incidence of imprinting disorders in children conceived by assisted reproductive technologies (ART… (More)
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2016
2016
Analysis of Multiple Families With Single Individuals Affected by Pseudohypoparathyroidism Type Ib (PHP1B) Reveals Only One Novel Maternally Inherited GNAS Deletion.
Proximal tubular resistance to parathyroid hormone (PTH) resulting in hypocalcemia and hyperphosphatemia are preeminent… (More)
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2016
2016
Pseudohypoparathyroidism type I‐b with neurological involvement is associated with a homozygous PTH1R mutation
Pseudohypoparathyroidism type 1b (PHP1b) is characterized by hypocalcemia, hyperphosphatemia, increased levels of circulating… (More)
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2016
2016
Parathyroid gland: GNAS defects in a large PHP cohort
pseudohypoparathyroidism (PHP) from patients across Europe has characterized the prevalence of different genetic and epigenetic… (More)
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2015
2015
Similar frequency of paternal uniparental disomy involving chromosome 20q (patUPD20q) in Japanese and Caucasian patients affected by sporadic pseudohypoparathyroidism type Ib (sporPHP1B).
Pseudohypoparathyroidism type Ib (PHP1B) is caused by proximal tubular resistance to parathyroid hormone that occurs in most… (More)
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2015
2015
Case report of GNAS epigenetic defect revealed by a congenital hypothyroidism.
Pseudohypoparathyroidism (PHP) is a group of disorders characterized by end-organ resistance to the parathyroid hormone (PTH… (More)
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2015
2015
Loss of methylation at GNAS exon A/B is associated with increased intrauterine growth.
CONTEXT GNAS is one of few genetic loci that undergo allelic-specific methylation resulting in the parent-specific expression of… (More)
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2012
2012
Development and treatment of tertiary hyperparathyroidism in patients with pseudohypoparathyroidism type 1B.
CONTEXT Pseudohypoparathyroidism type 1B (PHP1B) patients have PTH resistance at the renal proximal tubule and develop… (More)
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2003
2003
The stimulatory G protein alpha-subunit Gs alpha is imprinted in human thyroid glands: implications for thyroid function in pseudohypoparathyroidism types 1A and 1B.
The stimulatory G protein alpha-subunit G(s)alpha couples receptors to adenylyl cyclase and is required for hormone-stimulated… (More)
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