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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

Semantic Scholar uses AI to extract papers important to this topic.
2018
2018
Ossifications in Albright Hereditary Osteodystrophy: Role of Genotype, Inheritance, Sex, Age, Hormonal Status, and BMI
Context Albright hereditary osteodystrophy (AHO) is caused by heterozygous inactivating mutations in GNAS. Depending on the… 
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
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… 
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… 
1992
1992
Albright hereditary osteodystrophy with hypothyroidism, normocalcemia, and normal Gs protein activity: a family presenting with congenital osteoma cutis.
The syndrome of Albright hereditary osteodystrophy (AHO), pseudohypoparathyroidism (PHP) and pseudopseudohypoparathyroidism (PPHP… 
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