Skip to search formSkip to main content
You are currently offline. Some features of the site may not work correctly.

Hypochondrogenesis

 
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2005
Review
2005
With the application of molecular techniques the aetiopathogenesis of skeletal dysplasias is gradually elucidated. Recent… Expand
  • table 1
  • figure 1
  • table 2
2004
2004
SummaryThe expression of type I, II and III collagens genes was examined in human normal and hypochondrogenesis cartilage canals… Expand
  • figure I
  • figure 2
  • figure 3
  • figure 4
  • figure 5
2002
2002
Abstract. We describe the successful prenatal diagnosis of hypochondrogenesis by MRI. Fetal MR findings were the presence of a… Expand
  • figure 1
  • figure 2
  • figure 3
Highly Cited
2000
Highly Cited
2000
The COL2A1 gene was assayed for mutations in genomic DNA from 12 patients with achondrogenesis type II/hypochondrogenesis. The… Expand
1996
1996
A heterozygous mutation in the COL2A1 gene was identified in a patient with hypochondrogenesis. The mutation was a single… Expand
1995
1995
Two different mutations were found in two unrelated probands with lethal chondrodysplasias, one with achondrogenesis type II and… Expand
  • table 1
  • figure 1
  • figure 2
  • figure 4
  • figure 3
1995
1995
Defects in type II collagen have been demonstrated in a phenotypic continuum of chondrodysplasias that includes achondrogenesis… Expand
1994
1994
A new dominant mutation in the COL2A1 gene was found in a 38-week-old fetus with hypochondrogenesis. Denaturing gradient gel… Expand
Highly Cited
1992
Highly Cited
1992
The spondyloepiphyseal dysplasia subclassification of bone dysplasias includes achondrogenesis, hypochondrogenesis, and… Expand
1988
1988
In the classification of lethal osteochondrodysplasias, achondrogenesis and hypochondrogenesis have recently received special… Expand