|
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 |
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 |
GeneticVariation
|
disease |
CLINVAR |
Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans.
|
17078022 |
2007 |
|
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 |
CausalMutation
|
disease |
CLINVAR |
Total absence of the alpha2(I) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems.
|
16816023 |
2006 |
|
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Characterization of collagen-like peptides containing interruptions in the repeating Gly-X-Y sequence.
|
8218237 |
1993 |
|
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 |
Osteogenesis Imperfecta: the audiological phenotype lacks correlation with the genotype.
|
22206639 |
2011 |
|
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 |
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 |
LOVD v.2.0: the next generation in gene variant databases.
|
21520333 |
2011 |
|
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 |
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 |
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 |
GeneticVariation
|
disease |
CLINVAR |
Collagen structure and stability.
|
19344236 |
2009 |
|
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Osteogenesis imperfecta phenotypes resulting from serine for glycine substitutions in the alpha2(I) collagen chain.
|
9272740 |
1997 |
|
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 |
Osteogenesis imperfecta: clinical, biochemical and molecular findings.
|
16879195 |
2006 |
|
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
The human type I collagen mutation database.
|
9016532 |
1997 |
|
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Direct sequencing of PCR products derived from cDNAs for the pro alpha 1 and pro alpha 2 chains of type I procollagen as a screening method to detect mutations in patients with osteogenesis imperfecta.
|
8829649 |
1996 |
|
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 |
Osteogenesis imperfecta: cloning of a pro-alpha 2(I) collagen gene with a frameshift mutation.
|
6092353 |
1984 |
|
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Characterization of collagen-like peptides containing interruptions in the repeating Gly-X-Y sequence.
|
8218237 |
1993 |
|
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway.
|
15077201 |
2004 |
|
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
A Gly238Ser substitution in the alpha 2 chain of type I collagen results in osteogenesis imperfecta type III.
|
7860070 |
1995 |