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Osteochondrodysplasias

Known as: Congenital Skeletal Dysplasia, Skeletal dysplasia, Osteochondrodysplasia 
A term referring to disorders characterized by abnormalities in the development of bones and cartilage.
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2012
Highly Cited
2012
Thyroid hormones exert their effects through alpha (TRα1) and beta (TRβ1 and TRβ2) receptors. Here we describe a child with… Expand
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Review
2011
Review
2011
SummaryThe transient receptor potential (TRP) multigene superfamily encodes integral membrane proteins that function as ion… Expand
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Review
2007
Review
2007
Mutations in genes encoding the intermediate filament nuclear lamins and associated proteins cause a wide spectrum of diseases… Expand
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Highly Cited
2007
Highly Cited
2007
Endometrial carcinoma is the most common gynecological malignancy in the United States. Although most women present with early… Expand
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Highly Cited
2004
Highly Cited
2004
The homodimeric transmembrane receptor natriuretic peptide receptor B (NPR-B [also known as guanylate cyclase B, GC-B, and GUC2B… Expand
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Highly Cited
2002
Highly Cited
2002
Van Buchem disease is an autosomal recessive skeletal dysplasia characterised by generalised bone overgrowth, predominantly in… Expand
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Highly Cited
1999
Highly Cited
1999
Perlecan, a large, multi-domain, heparan sulfate proteoglycan originally identified in basement membrane, interacts with… Expand
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Review
1999
Review
1999
Cleidocranial dysplasia (CCD) (MIM 119600) is an autosomal dominant skeletal dysplasia characterised by abnormal clavicles… Expand
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Highly Cited
1997
Highly Cited
1997
Two lines of evidence suggest that the Sry-related gene Sox9 is important for chondrogenesis in mammalian embryos. Sox9 mRNA is… Expand
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Highly Cited
1995
Highly Cited
1995
Hypochondroplasia (MIM 146000) is an autosomal dominant skeletal dysplasia with skeletal features similar to but milder than… Expand
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