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Albright's hereditary osteodystrophy

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

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Highly Cited
2010
Highly Cited
2010
CONTEXT The two main subtypes of pseudohypoparathyroidism (PHP), PHP-Ia and -Ib, are caused by mutations in GNAS exons 1-13 and… Expand
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Highly Cited
2003
Highly Cited
2003
Pseudohypoparathyroidism (PHP) is a heterogeneous disease characterized by PTH resistance and classified as types Ia, Ib, Ic, and… Expand
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Highly Cited
2002
Highly Cited
2002
Albright hereditary osteodystrophy (AHO) results from heterozygous inactivation of G(s)alpha, encoded by the GNAS1 locus on the… Expand
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Review
2001
Review
2001
The heterotrimeric G protein G(s) couples hormone receptors (as well as other receptors) to the effector enzyme adenylyl cyclase… Expand
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Review
1996
Review
1996
Inactivating and activating mutations in the gene encoding G alpha s (GNAS1) are known to be the basis for 2 well-described… Expand
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Highly Cited
1995
Highly Cited
1995
We report five patients with a combination of brachymetaphalangia and mental retardation, similar to that observed in Albright… Expand
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Highly Cited
1995
Highly Cited
1995
Albright hereditary osteodystrophy (AHO) is a condition with characteristic physical findings (short stature, obesity, round face… Expand
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Highly Cited
1994
Highly Cited
1994
Albright hereditary osteodystrophy (AHO) is an autosomal-dominant disorder characterized by decreased expression of Gs alpha and… Expand
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Highly Cited
1993
Highly Cited
1993
Albright hereditary osteodystrophy (AHO) is an inherited disorder associated with deficient activity of the alpha-subunit of the… Expand
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Highly Cited
1992
Highly Cited
1992
Several heterozygous mutations within the gene encoding the alpha-subunit of Gs (GNAS1), the G protein that stimulates adenylyl… Expand
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