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

Topic mentions per year

Topic mentions per year

1947-2018
05010019472017

Papers overview

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Review
2015
Review
2015
Fetal skeletal dysplasias are a heterogeneous group of rare genetic disorders, affecting approximately 2.4-4.5 of 10,000 births… (More)
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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… (More)
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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… (More)
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Highly Cited
2001
Highly Cited
2001
Longitudinal bone growth is determined by endochondral ossification that occurs as chondrocytes in the cartilaginous growth plate… (More)
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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… (More)
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Highly Cited
1999
Highly Cited
1999
Cathepsin K is a cysteine protease expressed predominantly in osteoclasts. Activated cathepsin K cleaves key bone matrix proteins… (More)
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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… (More)
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Highly Cited
1995
Highly Cited
1995
Identifying mutations that cause specific osteochondrodysplasias will provide novel insights into the function of genes that are… (More)
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Highly Cited
1995
Highly Cited
1995
Thanatophoric dysplasia (TD), the most common neonatal lethal skeletal dysplasia, affects one out of 20,000 live births. Affected… (More)
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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… (More)
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