Osteogenesis imperfecta, dominant perinatal lethal
|
0.890 |
GeneticVariation
|
disease |
BEFREE |
Amniotic fluid testing revealed a novel COL1A1 mutation (c.1840G>A; p.Gly614Arg).OI Type II diagnosis was made.
|
30408804 |
2019 |
Osteogenesis imperfecta, dominant perinatal lethal
|
0.890 |
GeneticVariation
|
disease |
UNIPROT |
Whole-exome sequencing identifies de novo mutation in the COL1A1 gene to underlie the severe osteogenesis imperfecta.
|
25958000 |
2015 |
Osteogenesis imperfecta, dominant perinatal lethal
|
0.890 |
GermlineCausalMutation
|
disease |
ORPHANET |
Nosology and classification of genetic skeletal disorders: 2010 revision.
|
21438135 |
2011 |
Osteogenesis imperfecta, dominant perinatal lethal
|
0.890 |
GeneticVariation
|
disease |
UNIPROT |
To provide additional data for genotype-phenotype analyses and to determine the proportion of mutations in the type I collagen genes among subjects with lethal forms of OI, we sequenced the coding and exon-flanking regions of COL1A1 and COL1A2 in a cohort of 63 subjects with OI type II, the perinatal lethal form of the disease.
|
18996919 |
2009 |
Osteogenesis imperfecta, dominant perinatal lethal
|
0.890 |
GeneticVariation
|
disease |
BEFREE |
To provide additional data for genotype-phenotype analyses and to determine the proportion of mutations in the type I collagen genes among subjects with lethal forms of OI, we sequenced the coding and exon-flanking regions of COL1A1 and COL1A2 in a cohort of 63 subjects with OI type II, the perinatal lethal form of the disease.
|
18996919 |
2009 |
Osteogenesis imperfecta, dominant perinatal lethal
|
0.890 |
GeneticVariation
|
disease |
UNIPROT |
Two novel COL1A1 mutations in patients with osteogenesis imperfecta (OI) affect the stability of the collagen type I triple-helix.
|
18670065 |
2008 |
Osteogenesis imperfecta, dominant perinatal lethal
|
0.890 |
Biomarker
|
disease |
MGD |
ER stress-mediated apoptosis in a new mouse model of osteogenesis imperfecta.
|
18248096 |
2008 |
Osteogenesis imperfecta, dominant perinatal lethal
|
0.890 |
GeneticVariation
|
disease |
UNIPROT |
Prenatal diagnosis of type II osteogenesis imperfecta, describing a new mutation in the COL1A1 gene.
|
16566045 |
2006 |
Osteogenesis imperfecta, dominant perinatal lethal
|
0.890 |
GeneticVariation
|
disease |
UNIPROT |
Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV.
|
16786509 |
2006 |
Osteogenesis imperfecta, dominant perinatal lethal
|
0.890 |
Biomarker
|
disease |
MGD |
Use of the Cre/lox recombination system to develop a non-lethal knock-in murine model for osteogenesis imperfecta with an alpha1(I) G349C substitution. Variability in phenotype in BrtlIV mice.
|
10608859 |
1999 |
Osteogenesis imperfecta, dominant perinatal lethal
|
0.890 |
GeneticVariation
|
disease |
UNIPROT |
Four new cases of lethal osteogenesis imperfecta due to glycine substitutions in COL1A1 and genes. Mutations in brief no. 152. Online.
|
10627137 |
1998 |
Osteogenesis imperfecta, dominant perinatal lethal
|
0.890 |
GeneticVariation
|
disease |
BEFREE |
Perinatal lethal osteogenesis imperfecta is the result of heterozygous mutations of the COL1A1 and COL1A2 genes.
|
10627137 |
1998 |
Osteogenesis imperfecta, dominant perinatal lethal
|
0.890 |
GeneticVariation
|
disease |
UNIPROT |
(G586V) substitutions in the alpha 1 and alpha 2 chains of collagen I: effect of alpha-chain stoichiometry on the phenotype of osteogenesis imperfecta?
|
9143923 |
1997 |
Osteogenesis imperfecta, dominant perinatal lethal
|
0.890 |
GeneticVariation
|
disease |
UNIPROT |
Substitution of glycine-661 by serine in the alpha1(I) and alpha2(I) chains of type I collagen results in different clinical and biochemical phenotypes.
|
8786074 |
1996 |
Osteogenesis imperfecta, dominant perinatal lethal
|
0.890 |
GeneticVariation
|
disease |
BEFREE |
Perinatal lethal osteogenesis imperfecta is the result of heterozygous mutations of the COL1A1 and COL1A2 genes that encode the alpha 1(I) and alpha 2(I) chains of type I collagen, respectively.
|
7643358 |
1995 |
Osteogenesis imperfecta, dominant perinatal lethal
|
0.890 |
GeneticVariation
|
disease |
BEFREE |
We identified two infants with lethal (type II) osteogenesis imperfecta (OI) who were heterozygous for mutations in the COL1A1 gene that resulted in substitutions of aspartic acid for glycine at position 220 and arginine for glycine at position 664 in the product of one COL1A1 allele in each individual.
|
7487936 |
1995 |
Osteogenesis imperfecta, dominant perinatal lethal
|
0.890 |
GeneticVariation
|
disease |
UNIPROT |
Osteogenesis imperfecta: comparison of molecular defects with bone histological changes.
|
7520724 |
1994 |
Osteogenesis imperfecta, dominant perinatal lethal
|
0.890 |
GeneticVariation
|
disease |
UNIPROT |
Substitution of cysteine for glycine-946 in the alpha 1(I) chain of type I procollagen causes lethal osteogenesis imperfecta.
|
7961597 |
1994 |
Osteogenesis imperfecta, dominant perinatal lethal
|
0.890 |
GeneticVariation
|
disease |
UNIPROT |
In this study we describe a new dominant point mutation in COL1A1 causing a lethal form of Osteogenesis imperfecta (type II B).
|
7679635 |
1993 |
Osteogenesis imperfecta, dominant perinatal lethal
|
0.890 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in the carboxyl-terminal propeptide of the pro alpha 1(I) chain of type I collagen result in defective chain association and produce lethal osteogenesis imperfecta.
|
8349697 |
1993 |
Osteogenesis imperfecta, dominant perinatal lethal
|
0.890 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
SSCP detection of a Gly565Val substitution in the pro alpha 1(I) collagen chain resulting in osteogenesis imperfecta type II.
|
8100209 |
1993 |
Osteogenesis imperfecta, dominant perinatal lethal
|
0.890 |
GeneticVariation
|
disease |
UNIPROT |
An RT-PCR-SSCP screening strategy for detection of mutations in the gene encoding the alpha 1 chain of type I collagen: application to four patients with osteogenesis imperfecta.
|
7691343 |
1993 |
Osteogenesis imperfecta, dominant perinatal lethal
|
0.890 |
GeneticVariation
|
disease |
UNIPROT |
We describe a dominant point mutation in the COL1A1 gene causing extremely severe osteogenesis imperfecta (OI type II/III) which was detected in the dermal fibroblasts of a proband, diagnosed by ultrasonography at 24 weeks of gestation.
|
8364588 |
1993 |
Osteogenesis imperfecta, dominant perinatal lethal
|
0.890 |
GeneticVariation
|
disease |
BEFREE |
We describe a dominant point mutation in the COL1A1 gene causing extremely severe osteogenesis imperfecta (OI type II/III) which was detected in the dermal fibroblasts of a proband, diagnosed by ultrasonography at 24 weeks of gestation.
|
8364588 |
1993 |
Osteogenesis imperfecta, dominant perinatal lethal
|
0.890 |
GeneticVariation
|
disease |
BEFREE |
Fibroblast cell strains from three infants with perinatal lethal osteogenesis imperfecta (OI) carry unique mutations in COL1A1 (the gene encoding the pro alpha 1(I) chain of type I procollagen) that impair chain association.
|
8349697 |
1993 |