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Hypochondrogenesis

 
National Institutes of Health

Related topics

Related topics

3 relations
Achondrogenesis type 2Hypochondroplasia (disorder)

Broader (1)

Osteochondrodysplasias

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2005
Review
2005
The type II collagenopathies: A spectrum of chondrodysplasias
With the application of molecular techniques the aetiopathogenesis of skeletal dysplasias is gradually elucidated. Recent… Expand
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2004
2004
Localization of the expression of type I, II and III collagen genes in human normal and hypochondrogenesis cartilage canals
SummaryThe expression of type I, II and III collagens genes was examined in human normal and hypochondrogenesis cartilage canals… Expand
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2002
2002
Prenatal diagnosis of hypochondrogenesis using fetal MRI: a case report
Abstract. We describe the successful prenatal diagnosis of hypochondrogenesis by MRI. Fetal MR findings were the presence of a… Expand
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Highly Cited
2000
Highly Cited
2000
Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis.
The COL2A1 gene was assayed for mutations in genomic DNA from 12 patients with achondrogenesis type II/hypochondrogenesis. The… Expand
1996
1996
An alpha 1(II) Gly913 to Cys substitution prevents the matrix incorporation of type II collagen which is replaced with type I and III collagens in cartilage from a patient with hypochondrogenesis.
A heterozygous mutation in the COL2A1 gene was identified in a patient with hypochondrogenesis. The mutation was a single… Expand
1995
1995
Substitution of aspartic acid for glycine at position 310 in type II collagen produces achondrogenesis II, and substitution of serine at position 805 produces hypochondrogenesis: analysis of genotype…
Two different mutations were found in two unrelated probands with lethal chondrodysplasias, one with achondrogenesis type II and… Expand
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1995
1995
An RNA-splicing mutation (G+5IVS20) in the type II collagen gene (COL2A1) in a family with spondyloepiphyseal dysplasia congenita.
Defects in type II collagen have been demonstrated in a phenotypic continuum of chondrodysplasias that includes achondrogenesis… Expand
1994
1994
Mutation in the COL2A1 gene in a patient with hypochondrogenesis. Expression of mutated COL2A1 gene is accompanied by expression of genes for type I procollagen in chondrocytes.
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
An amino acid substitution (Gly853-->Glu) in the collagen alpha 1(II) chain produces hypochondrogenesis.
The spondyloepiphyseal dysplasia subclassification of bone dysplasias includes achondrogenesis, hypochondrogenesis, and… Expand
1988
1988
Achondrogenesis-hypochondrogenesis: the spectrum of chondrogenesis imperfecta. A radiological, ultrasonographic, and histopathologic study of 23 cases.
In the classification of lethal osteochondrodysplasias, achondrogenesis and hypochondrogenesis have recently received special… Expand
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