Albright's hereditary osteodystrophy

Known as: Albright hereditary osteodystrophy, OSTEODYSTROPHY, HEREDITARY OF ALBRIGHT 
 
National Institutes of Health

Related topics

Related topics

2 relations

Broader (1)

Pseudohypoparathyroidism
Pseudohypoparathyroidism, Type Ia

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2014
2014
Albright hereditary osteodystrophy: a case report.
A dental practitioner with an eagle's eye can diagnose many hidden disease through careful examination of the oral cavity. One… (More)
Is this relevant?
2011
2011
Heterotopic Ossifications in a Mouse Model of Albright Hereditary Osteodystrophy
Albright hereditary osteodystrophy (AHO) is characterized by short stature, brachydactyly, and often heterotopic ossifications… (More)
Is this relevant?
Highly Cited
2010
Highly Cited
2010
Pseudohypoparathyroidism and GNAS epigenetic defects: clinical evaluation of albright hereditary osteodystrophy and molecular analysis in 40 patients.
CONTEXT The two main subtypes of pseudohypoparathyroidism (PHP), PHP-Ia and -Ib, are caused by mutations in GNAS exons 1-13 and… (More)
  • figure 1
  • table 1
  • figure 2
Is this relevant?
2009
2009
Albright hereditary osteodystrophy: a rare case report.
Albright hereditary osteodystrophy (AHO) is a rare hereditary metabolic disorder that may be associated with or without resistant… (More)
Is this relevant?
2008
2008
Preimplantation genetic diagnosis for severe albright hereditary osteodystrophy.
CONTEXT Preimplantation genetic diagnosis (PGD) enables the selection of embryos without mutations for implantation and has not… (More)
Is this relevant?
2006
2006
[Calcinosis cutis in Albright hereditary osteodystrophy: pseudohypoparathyroidism type Ia].
Albright hereditary osteodystrophy (AHO) is characterized by a symptom complex including short stature, brachymetacarpia, obesity… (More)
Is this relevant?
2003
2003
Molecular Analysis of the GNAS1 Gene for the Correct Diagnosis of Albright Hereditary Osteodystrophy and Pseudohypoparathyroidism
Pseudohypoparathyroidism (PHP) is a heterogeneous disease characterized by PTH resistance and classified as types Ia, Ib, Ic, and… (More)
  • table 1
  • table 2
  • table 3
Is this relevant?
2002
2002
Constitutional deletion of chromosome 20q in two patients affected with albright hereditary osteodystrophy.
Albright hereditary osteodystrophy (AHO) results from heterozygous inactivation of G(s)alpha, encoded by the GNAS1 locus on the… (More)
Is this relevant?
1999
1999
Identification of two novel deletion mutations within the Gs alpha gene (GNAS1) in Albright hereditary osteodystrophy.
Albright hereditary osteodystrophy (AHO) is a genetic disorder characterized by short stature, skeletal defects, and obesity… (More)
Is this relevant?
Review
1996
Review
1996
Clinical implications of genetic defects in G proteins. The molecular basis of McCune-Albright syndrome and Albright hereditary osteodystrophy.
Inactivating and activating mutations in the gene encoding G alpha s (GNAS1) are known to be the basis for 2 well-described… (More)
Is this relevant?