Osteogenesis imperfecta type IV (disorder)
|
0.970 |
GeneticVariation
|
disease |
BEFREE |
A novel variant of osteogenesis imperfecta type IV and low serum phosphorus level caused by a Val94Asp mutation in COL1A1.
|
29344653 |
2018 |
Osteogenesis imperfecta type IV (disorder)
|
0.970 |
CausalMutation
|
disease |
CLINVAR |
Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta.
|
25944380 |
2015 |
Osteogenesis imperfecta type IV (disorder)
|
0.970 |
Biomarker
|
disease |
MGD |
Behavioral signs of pain and functional impairment in a mouse model of osteogenesis imperfecta.
|
26277094 |
2015 |
Osteogenesis imperfecta type IV (disorder)
|
0.970 |
Biomarker
|
disease |
MGD |
First mouse model for combined osteogenesis imperfecta and Ehlers-Danlos syndrome.
|
24443344 |
2014 |
Osteogenesis imperfecta type IV (disorder)
|
0.970 |
Biomarker
|
disease |
BEFREE |
To identify the cause of OI in eight children with severe bone fragility and a clinical diagnosis of OI type IV who had had negative results on COL1A1/COL1A2 Sanger sequencing.
|
23434763 |
2013 |
Osteogenesis imperfecta type IV (disorder)
|
0.970 |
GermlineCausalMutation
|
disease |
ORPHANET |
Nosology and classification of genetic skeletal disorders: 2010 revision.
|
21438135 |
2011 |
Osteogenesis imperfecta type IV (disorder)
|
0.970 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in type I collagen genes in Japanese osteogenesis imperfecta patients.
|
17875077 |
2007 |
Osteogenesis imperfecta type IV (disorder)
|
0.970 |
GeneticVariation
|
disease |
UNIPROT |
Osteogenesis imperfecta: clinical, biochemical and molecular findings.
|
16879195 |
2006 |
Osteogenesis imperfecta type IV (disorder)
|
0.970 |
GeneticVariation
|
disease |
UNIPROT |
Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV.
|
16786509 |
2006 |
Osteogenesis imperfecta type IV (disorder)
|
0.970 |
GeneticVariation
|
disease |
BEFREE |
More than 150 different COL1A1 gene mutations have been associated with various forms of OI, and five of these have been associated with DGI and type IV OI.
|
11286811 |
2001 |
Osteogenesis imperfecta type IV (disorder)
|
0.970 |
GeneticVariation
|
disease |
BEFREE |
Comparison of phenotypic features with the concordant collagen locus showed that in four pedigrees with OI Sillence type I segregated with COL1A1, while two pedigrees with OI Sillence type I and OI type IV segregated with COL1A2.
|
11208313 |
2001 |
Osteogenesis imperfecta type IV (disorder)
|
0.970 |
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 type IV (disorder)
|
0.970 |
GeneticVariation
|
disease |
UNIPROT |
Three novel type I collagen mutations in osteogenesis imperfecta type IV probands are associated with discrepancies between electrophoretic migration of osteoblast and fibroblast collagen.
|
9600458 |
1998 |
Osteogenesis imperfecta type IV (disorder)
|
0.970 |
GeneticVariation
|
disease |
BEFREE |
Variable clinical expression in a family with OI type IV due to deletion of three base pairs in COL1A1.
|
9007315 |
1996 |
Osteogenesis imperfecta type IV (disorder)
|
0.970 |
GeneticVariation
|
disease |
UNIPROT |
Substitution of serine for glycine 883 in the triple helix of the pro alpha 1 (I) chain of type I procollagen produces osteogenesis imperfecta type IV and introduces a structural change in the triple helix that does not alter cleavage of the molecule by procollagen N-proteinase.
|
7982948 |
1994 |
Osteogenesis imperfecta type IV (disorder)
|
0.970 |
Biomarker
|
disease |
BEFREE |
A heterozygous de novo G to A point mutation in intron 8 at the +5 position of the splice donor site of the gene for the pro alpha 1(I) chain of type I procollagen, COL1A1, was defined in a patient with type IV osteogenesis imperfecta.
|
7945197 |
1994 |
Osteogenesis imperfecta type IV (disorder)
|
0.970 |
GeneticVariation
|
disease |
UNIPROT |
Serine for glycine substitutions in type I collagen in two cases of type IV osteogenesis imperfecta (OI). Additional evidence for a regional model of OI pathophysiology.
|
8094076 |
1993 |
Osteogenesis imperfecta type IV (disorder)
|
0.970 |
GeneticVariation
|
disease |
UNIPROT |
A cysteine for glycine substitution at position 175 in an alpha 1 (I) chain of type I collagen produces a clinically heterogeneous form of osteogenesis imperfecta.
|
8339541 |
1993 |
Osteogenesis imperfecta type IV (disorder)
|
0.970 |
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 type IV (disorder)
|
0.970 |
GeneticVariation
|
disease |
UNIPROT |
Substitution of cysteine for glycine at residue 415 of one allele of the alpha 1(I) chain of type I procollagen in type III/IV osteogenesis imperfecta.
|
1770532 |
1991 |
Osteogenesis imperfecta type IV (disorder)
|
0.970 |
GeneticVariation
|
disease |
UNIPROT |
A de novo G to T transversion in a pro-alpha 1 (I) collagen gene for a moderate case of osteogenesis imperfecta. Substitution of cysteine for glycine 178 in the triple helical domain.
|
1988452 |
1991 |
Osteogenesis imperfecta type IV (disorder)
|
0.970 |
GeneticVariation
|
disease |
BEFREE |
Osteogenesis imperfecta type IV. Detection of a point mutation in one alpha 1(I) collagen allele (COL1A1) by RNA/RNA hybrid analysis.
|
2745420 |
1989 |
Osteogenesis imperfecta type IV (disorder)
|
0.970 |
GeneticVariation
|
disease |
UNIPROT |
Osteogenesis imperfecta type IV. Detection of a point mutation in one alpha 1(I) collagen allele (COL1A1) by RNA/RNA hybrid analysis.
|
2745420 |
1989 |
Osteogenesis imperfecta type IV (disorder)
|
0.970 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Osteogenesis imperfecta type IV (disorder)
|
0.970 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|