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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

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Highly Cited
2004
Highly Cited
2004
Molecular delineation of deletions on 2q37.3 in three cases with an Albright hereditary osteodystrophy‐like phenotype
A minority of the reported cases of terminal 2q37 deletion clinically resemble Albright hereditary osteodystrophy (AHO… 
Highly Cited
2003
Highly Cited
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… 
Highly Cited
2002
Highly Cited
2002
Paternal imprinting of Galpha(s) in the human thyroid as the basis of TSH resistance in pseudohypoparathyroidism type 1a.
Highly Cited
2002
Highly Cited
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… 
2000
2000
Germline mosaicism for a GNAS1 mutation and Albright hereditary osteodystrophy
Editor—Albright hereditary osteodystrophy (AHO) is an autosomal dominant disorder characterised by short stature, a round face… 
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… 
1999
1999
Familial cryptic translocation between chromosomes 2qter and 8qter: further delineation of the Albright hereditary osteodystrophy-like phenotype
Recently five patients with an Albright hereditary osteodystrophy (AHO)-like phenotype were reported to have a subtelomeric… 
Highly Cited
1998
Highly Cited
1998
A Novel Mutation in the Switch 3 Region of Gsα in a Patient with Albright Hereditary Osteodystrophy Impairs GDP Binding and Receptor Activation*
Albright hereditary osteodystrophy (AHO), a disorder characterized by skeletal abnormalities and obesity, is associated with… 
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… 
1994
1994
Paternal and maternal transmission of pseudohypoparathyroidism type Ia in a family with Albright hereditary osteodystrophy: no evidence of genomic imprinting.
Albright hereditary osteodystrophy (AHO) is a rare autosomal dominant disorder characterised by short stature, obesity, round… 
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