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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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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.
D. Hugar
,
Sangameshwar Sajjanshetty
,
S. Hugar
,
M. Kadani
Journal of clinical and diagnostic research…
2014
Corpus ID: 38610082
A dental practitioner with an eagle's eye can diagnose many hidden disease through careful examination of the oral cavity. One…
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Review
2012
Review
2012
GNAS Epigenetic Defects and Pseudohypoparathyroidism: Time for a New Classification?
G. Mantovani
,
F. Elli
,
A. Spada
Hormone and Metabolic Research
2012
Corpus ID: 206334328
Abstract Pseudohypoparathyroidism-Ia and -Ib (PHP-Ia and -Ib) are caused by mutations in GNAS exons 1–13 and methylation defects…
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2011
2011
Clinical characterization and identification of two novel mutations of the GNAS gene in patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism
H. Jin
,
B. Lee
,
+9 authors
H. Yoo
Clinical Endocrinology
2011
Corpus ID: 587312
Objective Pseudohypoparathyroidism (PHP) and pseudopseudohypoparathyroidism (PPHP) are rare disorders resulting from genetic and…
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2008
2008
Preimplantation genetic diagnosis for severe albright hereditary osteodystrophy.
S. Lietman
,
J. Goldfarb
,
N. Desai
,
M. Levine
Journal of Clinical Endocrinology and Metabolism
2008
Corpus ID: 10667121
CONTEXT Preimplantation genetic diagnosis (PGD) enables the selection of embryos without mutations for implantation and has not…
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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
AE Shrimpton
,
BR Braddock
,
LL Thomson
,
C. Stein
,
JJ Hoo
Clinical Genetics
2004
Corpus ID: 42975740
A minority of the reported cases of terminal 2q37 deletion clinically resemble Albright hereditary osteodystrophy (AHO…
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2004
2004
Molecular characterization of a cryptic 2q37 deletion in a patient with Albright hereditary osteodystrophy‐like phenotype
N. Chassaing
,
P. de Mas
,
+5 authors
E. Bieth
American Journal of Medical Genetics. Part A
2004
Corpus ID: 43324612
The Albright hereditary osteodystrophy‐like (AHO‐like) syndrome was recently defined as a rare dysmorphic syndrome including…
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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)
D. Giardino
,
P. Finelli
,
+5 authors
L. Larizza
American Journal of Medical Genetics. Part A
2003
Corpus ID: 23519675
We here describe a submicroscopic translocation affecting the subtelomeric regions of chromosomes 2q and 6q identified in a…
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1999
1999
Familial cryptic translocation between chromosomes 2qter and 8qter: further delineation of the Albright hereditary osteodystrophy-like phenotype
E. Bijlsma
,
Cora M. Aalfs
,
+4 authors
R. Hennekam
Journal of Medical Genetics
1999
Corpus ID: 8157230
Recently five patients with an Albright hereditary osteodystrophy (AHO)-like phenotype were reported to have a subtelomeric…
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1997
1997
RDCI, the vasoactive intestinal peptide receptor: a candidate gene for the features of Albright hereditary osteodystrophy associated with deletion of 2q37.
Monica M Power
,
Rowena S. James
,
+7 authors
A. Leatherdale
Journal of Medical Genetics
1997
Corpus ID: 1252198
Albright hereditary osteodystrophy (AHO) is an autosomal dominant disorder characterised by the presence of brachymetaphalangism…
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1994
1994
Paternal and maternal transmission of pseudohypoparathyroidism type Ia in a family with Albright hereditary osteodystrophy: no evidence of genomic imprinting.
V. Schuster
,
W. Kress
,
K. Kruse
Journal of Medical Genetics
1994
Corpus ID: 45013514
Albright hereditary osteodystrophy (AHO) is a rare autosomal dominant disorder characterised by short stature, obesity, round…
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