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Hypochondrogenesis

 
National Institutes of Health

Related topics

Related topics

3 relations
Achondrogenesis type 2Hypochondroplasia (disorder)

Broader (1)

Osteochondrodysplasias

Papers overview

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Review
2016
Review
2016
Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies.
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
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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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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2000
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
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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
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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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1994
1994
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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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
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1992
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
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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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