Associated Papers
COL1A1 and COL1A2 Gene Variants Causing Osteogenesis Imperfecta in a Major Referral Center of India.
Selina A et al.
American Journal of Medical Genetics. Part A, 2025
Registry-Based Frequency of Molecularly Confirmed Osteogenesis Imperfecta in a Swiss Cohort of Individuals With Connective Tissue Disorders.
Abegglen O et al.
American Journal of Medical Genetics. Part A, 2025
Genetic basis of osteogenesis imperfecta from a single tertiary centre in South Africa.
Coetzer KC et al.
European Journal of Human Genetics : Ejhg, 2024
Intracranial aneurysm as a possible complication of osteogenesis imperfecta: a case series and literature review.
Matsushiro M et al.
Endocrine Journal, 2023
Clinical and molecular features of patients with COL1-related disorders: Implications for the wider spectrum and the risk of vascular complications.
Takeda R et al.
American Journal of Medical Genetics. Part A, 2022
Clinical severity prediction in children with osteogenesis imperfecta caused by COL1A1/2 defects.
Yang L et al.
Osteoporosis International : a Journal Established as Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the Usa, 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
The molecular landscape of osteogenesis imperfecta in a Brazilian tertiary service cohort.
Fernandes AM et al.
Osteoporosis International : a Journal Established as Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the Usa, 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
Comparison of Bone Microarchitecture Between Adult Osteogenesis Imperfecta and Early-Onset Osteoporosis.
Rolvien T et al.
Calcified Tissue International, 2018
Diagnostic strategies and genotype-phenotype correlation in a large Indian cohort of osteogenesis imperfecta.
Mrosk J et al.
Bone, 2018
Copy number variants in association with type 1 collagenopathy: Atypical osteogenesis imperfecta.
Balasubramanian M et al.
American Journal of Medical Genetics. Part A, 2016
A rare case of osteogenesis imperfecta combined with complete tooth loss.
Lu Y et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2014
Osteogenesis imperfecta in Brazilian patients.
Trancozo M et al.
Genetics and Molecular Biology, 0