|
Lobstein Disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
Currently, heterozygous Mov-13 mice generated by virus insertion in the first intron of col1a1 is the exclusive model to modulate OI type I, in spite of the gradually recovered bone mineral and mechanical properties.
|
31369917 |
2019 |
|
Lobstein Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Generation of a patient-specific induced pluripotent stem cell line, KSCBi006-A, for osteogenesis imperfecta type I with the COL1A1, c.3162delT mutation.
|
31715426 |
2019 |
|
Lobstein Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Deletion type mutations in COL1A1 that resulted in OI type I had no effect on collagen type I secretion, nor on its intracellular accumulation.
|
29543922 |
2018 |
|
Lobstein Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Delineation of Ehlers-Danlos syndrome phenotype due to the c.934C>T, p.(Arg312Cys) mutation in COL1A1: Report on a three-generation family without cardiovascular events, and literature review.
|
28102596 |
2017 |
|
Lobstein Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Molecular diagnosis in children with fractures but no extraskeletal signs of osteogenesis imperfecta.
|
28378289 |
2017 |
|
Lobstein Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
They have a more severe form of type I OI with features of EDS that represents their compound heterozygosity for two deleterious COL1A1 mutations.
|
28436160 |
2017 |
|
Lobstein Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Mutations in COL1A1 and COL1A2 and dental aberrations in children and adolescents with osteogenesis imperfecta - A retrospective cohort study.
|
28498836 |
2017 |
|
Lobstein Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Mutational analysis of COL1A1 and COL1A2 genes among Estonian osteogenesis imperfecta patients.
|
28810924 |
2017 |
|
Lobstein Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Tooth agenesis in osteogenesis imperfecta related to mutations in the collagen type I genes.
|
27510842 |
2017 |
|
Lobstein Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta.
|
28116328 |
2017 |
|
Lobstein Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma.
|
27484908 |
2016 |
|
Lobstein Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Identification of two recurrent mutations of COL1A1 gene in Chinese Van der Hoeve syndrome patients.
|
27044453 |
2016 |
|
Lobstein Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In summary, we found deletions of COL1A1 in 5 out of 161 families (3 %) with OI type I that were evaluated.
|
26478226 |
2016 |
|
Lobstein Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Eight mutations including 5 novel ones in the COL1A1 gene in Czech patients with osteogenesis imperfecta.
|
27132807 |
2016 |
|
Lobstein Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Collagen Type I Alpha 1 Mutation Causes Osteogenesis Imperfecta from Mild to Perinatal Death in a Chinese Family.
|
26712438 |
2016 |
|
Lobstein Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
All mutations found in OI type I were dominant and exclusively affected COL1A1 or COL1A2.
|
27509835 |
2016 |
|
Lobstein Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The aim of this study is to find mutational patterns of COL1A1 gene that may account for the putative Van der Hoeve syndrome in the patients carrying symptoms of osteogenesis imperfecta, blue sclera, and conductive deafness.
|
27044453 |
2016 |
|
Lobstein Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Clinical characteristics and the identification of novel mutations of COL1A1 and COL1A2 in 61 Chinese patients with osteogenesis imperfecta.
|
27748872 |
2016 |
|
Lobstein Disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
COL1A1 and COL1A2 were analyzed in 79 children with OI (type I n=33, type III n=25 and type IV n=21) treated with Pamidronate.
|
26957348 |
2016 |
|
Lobstein Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
DNA sequence analysis in 598 individuals with a clinical diagnosis of osteogenesis imperfecta: diagnostic yield and mutation spectrum.
|
27509835 |
2016 |
|
Lobstein Disease
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Mutation analysis of the COL1A1 and COL1A2 genes in Vietnamese patients with osteogenesis imperfecta.
|
27519266 |
2016 |
|
Lobstein Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Mutation analysis of the COL1A1 and COL1A2 genes in Vietnamese patients with osteogenesis imperfecta.
|
27519266 |
2016 |
|
Lobstein Disease
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Molecular diagnostic experience of whole-exome sequencing in adult patients.
|
26633545 |
2016 |
|
Lobstein Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Molecular Outcome, Prediction, and Clinical Consequences of Splice Variants in COL1A1, Which Encodes the proα1(I) Chains of Type I Procollagen.
|
25963598 |
2015 |
|
Lobstein Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Genotype and phenotype analysis of Taiwanese patients with osteogenesis imperfecta.
|
26627451 |
2015 |