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Hypochondrogenesis

 
National Institutes of Health

Papers overview

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Review
2016
Review
2016
Mutations in the COL2A1 gene cause a spectrum of rare autosomal-dominant conditions characterized by skeletal dysplasia, short… Expand
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Review
2005
Review
2005
With the application of molecular techniques the aetiopathogenesis of skeletal dysplasias is gradually elucidated. Recent… Expand
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2002
2002
Abstract. We describe the successful prenatal diagnosis of hypochondrogenesis by MRI. Fetal MR findings were the presence of a… Expand
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2000
2000
The COL2A1 gene was assayed for mutations in genomic DNA from 12 patients with achondrogenesis type II/hypochondrogenesis. The… Expand
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1996
1996
A heterozygous mutation in the COL2A1 gene was identified in a patient with hypochondrogenesis. The mutation was a single… Expand
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1995
1995
Two different mutations were found in two unrelated probands with lethal chondrodysplasias, one with achondrogenesis type II and… Expand
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1994
1994
SummaryThe expression of type I, II and III collagens genes was examined in human normal and hypochondrogenesis cartilage canals… Expand
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1994
1994
A new dominant mutation in the COL2A1 gene was found in a 38-week-old fetus with hypochondrogenesis. Denaturing gradient gel… Expand
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1992
1992
The spondyloepiphyseal dysplasia subclassification of bone dysplasias includes achondrogenesis, hypochondrogenesis, and… Expand
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1988
1988
In the classification of lethal osteochondrodysplasias, achondrogenesis and hypochondrogenesis have recently received special… Expand
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