Achondroplasia

Known as: Chondrodystrophia, Achondroplasia [Disease/Finding], osteosclerosis congenita 
An autosomal dominant disorder that is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic… (More)

Topic mentions per year

Topic mentions per year

1940-2017
05010019402016

Papers overview

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Highly Cited
2008
Highly Cited
2008
OBJECTIVES This study was conducted to clarify the incidence of coronary spasm in emergency patients with suspected acute… (More)
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Highly Cited
2004
Highly Cited
2004
Achondroplasia is the most common genetic form of human dwarfism, for which there is presently no effective therapy. C-type… (More)
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Highly Cited
2002
Highly Cited
2002
BACKGROUND Several microorganisms have been implicated in the pathogenesis of atherosclerosis. We hypothesized that infections… (More)
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Highly Cited
1996
Highly Cited
1996
The longitudinal growth of the skeleton arises from the continuous process of endochondral ossification occurring at the ends of… (More)
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Highly Cited
1996
Highly Cited
1996
Fibroblast growth factor receptor 3 (Fgfr3) is a tyrosine kinase receptor expressed in developing bone, cochlea, brain and spinal… (More)
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Highly Cited
1996
Highly Cited
1996
Endochondral ossification is a major mode of bone that occurs as chondrocytes undergo proliferation, hypertrophy, cell death, and… (More)
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Highly Cited
1995
Highly Cited
1995
The bioavailability of nitric oxide (NO) in the human coronary circulation at rest and after acetylcholine (ACH)-induced… (More)
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Highly Cited
1995
Highly Cited
1995
Genomic DNA from 154 unrelated individuals with achondroplasia was evaluated for mutations in the fibroblast growth factor… (More)
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Highly Cited
1994
Highly Cited
1994
Achondroplasia, the most common cause of chondrodysplasia in man (1 in 15,000 live births), is a condition of unknown origin… (More)
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Highly Cited
1994
Highly Cited
1994
Achondroplasia (ACH) is the most common genetic form of dwarfism. This disorder is inherited as an autosomal dominant trait… (More)
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