Achondrogenesis type 2
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution.
|
21922596 |
2012 |
Achondrogenesis type 2
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1.
|
20513134 |
2010 |
Achondrogenesis type 2
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Achondrogenesis Type II (ACG2) is a lethal skeletal disorder caused by a dominant mutation in the type II collagen gene (COL2A1).
|
20583175 |
2010 |
Achondrogenesis type 2
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A familial case of achondrogenesis type II caused by a dominant COL2A1 mutation and "patchy" expression in the mosaic father.
|
17994563 |
2007 |
Achondrogenesis type 2
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Achondrogenesis type II (ACG2) is the most severe disorder that can be produced by dominant mutations in COL2A1.
|
17994563 |
2007 |
Achondrogenesis type 2
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Achondrogenesis type II is a lethal skeletal dysplasia caused by new dominant mutations within the type II collagen gene (COL2A1).
|
15054848 |
2004 |
Achondrogenesis type 2
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Achondrogenesis type II is a lethal skeletal dysplasia caused by new dominant mutations within the type II collagen gene (COL2A1).
|
15054848 |
2004 |
Achondrogenesis type 2
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Spondyloperipheral dysplasia is caused by truncating mutations in the C-propeptide of COL2A1.
|
15316962 |
2004 |
Achondrogenesis type 2
|
1.000 |
Biomarker
|
disease |
MGD |
Role of collagen type II and perlecan in skeletal development.
|
12814946 |
2003 |
Achondrogenesis type 2
|
1.000 |
Biomarker
|
disease |
MGD |
The role of collagen II and cartilage fibril-associated molecules in skeletal development.
|
11680679 |
2001 |
Achondrogenesis type 2
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis.
|
10797431 |
2000 |
Achondrogenesis type 2
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
They also demonstrate that most, if not all, patients with achondrogenesis type II/hypochondrogenesis have mutations in the COL2A1 gene.
|
10797431 |
2000 |
Achondrogenesis type 2
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Achondrogenesis II-hypochondrogenesis and severe spondyloepiphyseal dysplasia congenita (SEDC) are lethal forms of dwarfism caused by dominant mutations in the type II collagen gene (COL2A1).
|
10745044 |
2000 |
Achondrogenesis type 2
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Achondrogenesis II-hypochondrogenesis and severe spondyloepiphyseal dysplasia congenita (SEDC) are lethal forms of dwarfism caused by dominant mutations in the type II collagen gene (COL2A1).
|
10745044 |
2000 |
Achondrogenesis type 2
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
They also demonstrate that most, if not all, patients with achondrogenesis type II/hypochondrogenesis have mutations in the COL2A1 gene.
|
10797431 |
2000 |
Achondrogenesis type 2
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A heterozygous mutation in the COL2A1 gene was identified in a patient with hypochondrogenesis.
|
8723098 |
1996 |
Achondrogenesis type 2
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A COL2A1 mutation in achondrogenesis type II results in the replacement of type II collagen by type I and III collagens in cartilage.
|
7829510 |
1995 |
Achondrogenesis type 2
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A COL2A1 mutation in achondrogenesis type II results in the replacement of type II collagen by type I and III collagens in cartilage.
|
7829510 |
1995 |
Achondrogenesis type 2
|
1.000 |
Biomarker
|
disease |
CTD_human |
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-phenotype relationships.
|
7741714 |
1995 |
Achondrogenesis type 2
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A radiographic, morphologic, biochemical and molecular analysis of a case of achondrogenesis type II resulting from substitution for a glycine residue (Gly691-->Arg) in the type II collagen trimer.
|
7757081 |
1995 |
Achondrogenesis type 2
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Three new point mutations in type II procollagen (COL2A1) and identification of a fourth family with the COL2A1 Arg519-->Cys base substitution using conformation sensitive gel electrophoresis.
|
7757086 |
1995 |
Achondrogenesis type 2
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
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.
|
8175802 |
1994 |
Achondrogenesis type 2
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Characterization of a type II collagen gene (COL2A1) mutation identified in cultured chondrocytes from human hypochondrogenesis.
|
1374906 |
1992 |
Achondrogenesis type 2
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
An amino acid substitution (Gly853-->Glu) in the collagen alpha 1(II) chain produces hypochondrogenesis.
|
1429602 |
1992 |
Achondrogenesis type 2
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Identification of the molecular defect in a family with spondyloepiphyseal dysplasia.
|
2543071 |
1989 |