Associated Papers
Investigation of oral health findings and genotype correlations in osteogenesis imperfecta.
Demir K et al.
Odontology, 2025
The administration of exogenous HSP47 as a collagen-specific therapeutic approach.
Besio R et al.
Jci Insight, 2025
Phenotypic Variation in Vietnamese Osteogenesis Imperfecta Patients Sharing a Recessive P3H1 Pathogenic Variant.
Zhytnik L et al.
Genes, 2022
Targeted High-Throughput Sequencing Analysis Results of Osteogenesis Imperfecta Patients from Different Regions of Turkey.
Demir S et al.
Genetic Testing and Molecular Biomarkers, 2021
VariantValidator: Accurate validation, mapping, and formatting of sequence variation descriptions.
Freeman PJ et al.
Human Mutation, 2018
A novel mutation in LEPRE1 that eliminates only the KDEL ER- retrieval sequence causes non-lethal osteogenesis imperfecta.
Takagi M et al.
Plos One, 2012
Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta.
Marini JC et al.
Cell and Tissue Research, 2010
Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation.
Willaert A et al.
Journal of Medical Genetics, 2009
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