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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.
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… 
Review
2012
Review
2012
GNAS Epigenetic Defects and Pseudohypoparathyroidism: Time for a New Classification?
Abstract Pseudohypoparathyroidism-Ia and -Ib (PHP-Ia and -Ib) are caused by mutations in GNAS exons 1–13 and methylation defects… 
2011
2011
Clinical characterization and identification of two novel mutations of the GNAS gene in patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism
Objective  Pseudohypoparathyroidism (PHP) and pseudopseudohypoparathyroidism (PPHP) are rare disorders resulting from genetic and… 
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… 
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… 
2004
2004
Molecular characterization of a cryptic 2q37 deletion in a patient with Albright hereditary osteodystrophy‐like phenotype
The Albright hereditary osteodystrophy‐like (AHO‐like) syndrome was recently defined as a rare dysmorphic syndrome including… 
2003
2003
Narrowing the candidate region of Albright hereditary osteodystrophy‐like syndrome by deletion mapping in a patient with an unbalanced cryptic translocation t(2;6)(q37.3;q26)
We here describe a submicroscopic translocation affecting the subtelomeric regions of chromosomes 2q and 6q identified in a… 
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… 
1997
1997
RDCI, the vasoactive intestinal peptide receptor: a candidate gene for the features of Albright hereditary osteodystrophy associated with deletion of 2q37.
Albright hereditary osteodystrophy (AHO) is an autosomal dominant disorder characterised by the presence of brachymetaphalangism… 
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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