Associated Papers
Development of a large porcine model of osteogenesis imperfecta type I.
Aguirre-Flores ME et al.
Bone Reports, 2026
Progress in the pathogenic mechanism, histological characteristics of hereditary dentine disorders and clinical management strategies.
Xue Q et al.
Frontiers in Cell and Developmental Biology, 2024
Exploring the Genetic Causes for Postnatal Growth Failure in Children Born Non-Small for Gestational Age.
Kim YM et al.
Journal of Clinical Medicine, 2023
A case of osteogenesis imperfecta caused by a COL1A1 variant, coexisting with pituitary stalk interruption syndrome.
Kitamura T et al.
Endocrine Journal, 2023
Unequal Impact of COL1A1 and COL1A2 Variants on Dentinogenesis Imperfecta.
Yamaguti PM et al.
Journal of Dental Research, 2023
Genetic analysis of osteogenesis imperfecta in a large Brazilian cohort.
Holtz AP et al.
Bone, 2023
Patient-reported outcomes in a Chinese cohort of osteogenesis imperfecta unveil psycho-physical stratifications associated with clinical manifestations.
Chen P et al.
Orphanet Journal of Rare Diseases, 2022
Phenotypic Spectrum and Molecular Basis in a Chinese Cohort of Osteogenesis Imperfecta With Mutations in Type I Collagen.
Chen P et al.
Frontiers in Genetics, 2022
Inter- and Intrafamilial Phenotypic Variability in Individuals with Collagen-Related Osteogenesis Imperfecta.
Zhytnik L et al.
Clinical and Translational Science, 2020
COL1A1/2 Pathogenic Variants and Phenotype Characteristics in Ukrainian Osteogenesis Imperfecta Patients.
Zhytnik L et al.
Frontiers in Genetics, 2019
Genotype-Phenotype Association Analysis Reveals New Pathogenic Factors for Osteogenesis Imperfecta Disease.
Shi J et al.
Frontiers in Pharmacology, 2019
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Responsiveness to pamidronate treatment is not related to the genotype of type I collagen in patients with osteogenesis imperfecta.
Kanno J et al.
Journal of Bone and Mineral Metabolism, 2018
Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma.
Mauri L et al.
Orphanet Journal of Rare Diseases, 2016
Osteogenesis Imperfecta: the audiological phenotype lacks correlation with the genotype.
Swinnen FK et al.
Orphanet Journal of Rare Diseases, 2011
Genetic and biochemical analyses of Israeli osteogenesis imperfecta patients.
Ries-Levavi L et al.
Human Mutation, 2004