Pseudohypoparathyroidism, Type Ia

Known as: PHP IA, PHP1A, Pseudohypoparathyroidisms, Type Ia 
A rare, autosomal dominant syndrome caused by mutations in the GNAS gene. It is characterized by the presence of short stature, obesity, round face… (More)
National Institutes of Health

Papers overview

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Review
2017
Review
2017
Pseudohypoparathyroidism (PHP) and pseudopseudohypoparathyroidism (PPHP) are caused by mutations and/or epigenetic changes at the… (More)
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2015
2015
Maternally inherited inactivating GNAS mutations are the most common cause of parathyroid hormone (PTH) resistance and Albright… (More)
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2012
2012
This study presents a novel pulsating heat pipe (PHP) concept that is functional even when PHP is with fewer turns and is… (More)
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Review
2010
Review
2010
  • Gavin Kelsey
  • American journal of medical genetics. Part C…
  • 2010
The GNAS locus on chromosome 20q13.11 is the archetypal complex imprinted locus. It comprises a bewildering array of alternative… (More)
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2007
2007
UNLABELLED Pseudohypoparathyroidism (PHP) Ia is a rare condition associated with multiple hormone resistance and the Albright… (More)
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2004
2004
Progressive osseous heteroplasia (OMIM 166350) is a rare autosomal dominant condition that presents in childhood as dermal… (More)
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2003
2003
Heterozygous inactivating mutations in the Gs alpha gene cause Albright's hereditary osteodystrophy. Consistent with the… (More)
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2003
2003
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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1996
1996
Pseudohypoparathyroidism type Ia (PHP-Ia) is a hereditary disease characterized by resistance to PTH and other hormones that act… (More)
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1994
1994
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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