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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… 
National Institutes of Health

Related topics

Related topics

20 relations
Albright's hereditary osteodystrophyAutosomal dominant inheritanceBasal ganglia calcificationBrachydactyly

Broader (1)

Pseudohypoparathyroidism

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2015
2015
HoneyPot systems in practice
The paper presents the HoneyPot technology as well as the experience gained from their usage in the network of the Institute of… 
2014
2014
ALGORITMA ENKRIPSI RC4 SEBAGAI METODE OBFUSCATION SOURCE CODE PHP
Source code program web dengan PHP merupakan sebuah bahasa pemrograman yang bersifat interpreter. Oleh karena itu, source code… 
Review
2013
Review
2013
Tripeptide amide L-pyroglutamyl-histidyl-L-prolineamide (L-PHP-thyrotropin-releasing hormone, TRH) promotes insulin-producing cell proliferation.
A very small tripeptide amide L-pyroglutamyl-L-histidyl-L-prolineamide (L-PHP, Thyrotropin-Releasing Hormone, TRH), was first… 
2011
2011
Adult onset pseudohypoparathyroidism type-1b with normal phosphaturic response to exogenous parathyroid hormone
Pseudohypoparathyroidism type-1b is a hereditary disorder of clinical hypoparathyroidism without AHO phenotype, characterized by… 
2009
2009
A Novel Mutation Causing Pseudohypoparathyroidism 1A with Congenital Hypothyroidism and Osteoma Cutis
Various inactivating mutations in guanine nucleotide−binding protein, alpha−stimulating activity polypeptide1 (GNAS1) gene have… 
2009
2009
Boy with pseudohypoparathyroidism type 1a caused by GNAS gene mutation (deltaN377), Crouzon‐like craniosynostosis, and severe trauma‐induced bleeding
We report on a 6‐month‐old boy with craniosynostosis, pseudohypoparathyroidism type 1a (PHP1A), and a GNAS gene mutation. He had… 
Review
2009
Review
2009
Ectopic Calcification as Discernible Manifestation in Neonates with Pseudohypoparathyroidism Type 1a
The diagnosis of pseudohypoparathyroidism type 1a (PHP1a) is challenging, because both the osteodystrophy, such as brachydactyly… 
Highly Cited
2000
Highly Cited
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… 
1996
1996
Familial Albright's hereditary osteodystrophy with hypoparathyroidism: normal structural Gs alpha gene.
Albright's hereditary osteodystrophy (AHO) is a characteristic skeletal phenotype, including short stature, obesity, round face… 
1995
1995
Operating and Evaluating Quadrature Modulators for Personal Communication Systems
The quadrature modulator is a fundamental radio component for worldwide digital wireless communication standards such as Global… 
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