|
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management.
|
29595812 |
2018 |
|
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Hip Dysplasia in Children With Osteogenesis Imperfecta: Association With Collagen Type I C-Propeptide Mutations.
|
26371943 |
2018 |
|
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Tooth agenesis in osteogenesis imperfecta related to mutations in the collagen type I genes.
|
27510842 |
2017 |
|
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Mutational analysis of COL1A1 and COL1A2 genes among Estonian osteogenesis imperfecta patients.
|
28810924 |
2017 |
|
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Molecular diagnosis in children with fractures but no extraskeletal signs of osteogenesis imperfecta.
|
28378289 |
2017 |
|
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Mutations in COL1A1 and COL1A2 and dental aberrations in children and adolescents with osteogenesis imperfecta - A retrospective cohort study.
|
28498836 |
2017 |
|
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Clinical characteristics and the identification of novel mutations of COL1A1 and COL1A2 in 61 Chinese patients with osteogenesis imperfecta.
|
27748872 |
2016 |
|
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Clinical characteristics and the identification of novel mutations of COL1A1 and COL1A2 in 61 Chinese patients with osteogenesis imperfecta.
|
27748872 |
2016 |
|
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Mutation analysis of the COL1A1 and COL1A2 genes in Vietnamese patients with osteogenesis imperfecta.
|
27519266 |
2016 |
|
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Copy number variants in association with type 1 collagenopathy: Atypical osteogenesis imperfecta.
|
26471105 |
2016 |
|
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta.
|
26177859 |
2015 |
|
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Mutations in patients with osteogenesis imperfecta from consanguineous Indian families.
|
25450603 |
2015 |
|
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing.
|
26432670 |
2015 |
|
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Genotype and phenotype analysis of Taiwanese patients with osteogenesis imperfecta.
|
26627451 |
2015 |
|
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Genetics of Osteoporosis in Children.
|
26138843 |
2015 |
|
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta.
|
25944380 |
2015 |
|
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Pre- and postnatal transplantation of fetal mesenchymal stem cells in osteogenesis imperfecta: a two-center experience.
|
24342908 |
2014 |
|
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
A rare case of osteogenesis imperfecta combined with complete tooth loss.
|
23934635 |
2014 |
|
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Whole exome sequencing is an efficient, sensitive and specific method of mutation detection in osteogenesis imperfecta and Marfan syndrome.
|
24501682 |
2013 |
|
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome.
|
23692737 |
2013 |
|
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
The identification of novel mutations in COL1A1, COL1A2, and LEPRE1 genes in Chinese patients with osteogenesis imperfecta.
|
21667357 |
2012 |
|
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Cardiopulmonary dysfunction in the Osteogenesis imperfecta mouse model Aga2 and human patients are caused by bone-independent mechanisms.
|
22589248 |
2012 |
|
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Validation of a quantitative PCR-high-resolution melting protocol for simultaneous screening of COL1A1 and COL1A2 point mutations and large rearrangements: application for diagnosis of osteogenesis imperfecta.
|
22753364 |
2012 |
|
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Osteogenesis Imperfecta: the audiological phenotype lacks correlation with the genotype.
|
22206639 |
2011 |
|
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
LOVD v.2.0: the next generation in gene variant databases.
|
21520333 |
2011 |