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PSEUDOHYPOPARATHYROIDISM, TYPE IB

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

Related topics

Related topics

5 relations
Autosomal dominant inheritanceGNAS wt AlleleGNAS, METHYLATION CHANGES, PATERNAL EPIGENOTYPEHyperphosphatemia (disorder)

Broader (1)

Pseudohypoparathyroidism

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2017
2017
Osteosarcoma in a Patient With Pseudohypoparathyroidism Type 1b Due to Paternal Uniparental Disomy of Chromosome 20q.
It is assumed that a persistent high level of parathyroid hormone (PTH) might have a relation with bone malignancy. However… Expand
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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… Expand
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Review
2016
Review
2016
Pseudohypoparathyroidism: one gene, several syndromes
AbstractPseudohypoparathyroidism (PHP) and pseudopseudohypoparathyroidism (PPHP) are caused by mutations and/or epigenetic… Expand
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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… Expand
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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… Expand
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2010
2010
Methylation-specific multiplex-ligation-dependent probe amplification as a rapid molecular diagnostic tool for pseudohypoparathyroidism type 1b.
Pseudohypoparathyroidism type 1b (PHP1b) is a rare metabolic bone disorder characterized by isolated renal parathyroid hormone… Expand
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Review
2010
Review
2010
Imprinting on chromosome 20: tissue-specific imprinting and imprinting mutations in the GNAS locus.
  • Gavin Kelsey
  • American journal of medical genetics. Part C…
  • 2010
    • Corpus ID: 9083923
The GNAS locus on chromosome 20q13.11 is the archetypal complex imprinted locus. It comprises a bewildering array of alternative… Expand
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Highly Cited
2003
Highly Cited
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… Expand
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2003
2003
The pseudohypoparathyroidism type lb locus is linked to a region including GNAS1 at 20q13.3.
Pseudohypoparathyroidism (PHP) is characterized by biochemical hypoparathyroidism with elevated parathyroid hormone levels owing… Expand
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2000
2000
New Phototriggers:1 Extending the p-Hydroxyphenacyl π−π* Absorption Range
Introducing 3-methoxy or 3,5-dimethoxy substituents on the 4-hydroxyphenacyl (pHP) photoremovable protecting group has been… Expand
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