Associated Papers
The Role of Osteoblasts in Phenotypic Variability of Dominant Osteogenesis Imperfecta: Evidence from Patients and Murine Models.
Jovanovic M et al.
International Journal of Molecular Sciences, 2025
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
Exome sequencing and prenatal skeletal abnormalities: comprehensive review and meta-analysis and way forward.
Jiang M et al.
Frontiers in Genetics, 2025
Multi-omics analyses reveal aberrant differentiation trajectory with WNT1 loss-of-function in type XV osteogenesis imperfecta.
Tan Z et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2024
In Vitro Modelling of Osteogenesis Imperfecta with Patient-Derived Induced Mesenchymal Stem Cells.
Claeys L et al.
International Journal of Molecular Sciences, 2024
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
Unequal Impact of COL1A1 and COL1A2 Variants on Dentinogenesis Imperfecta.
Yamaguti PM et al.
Journal of Dental Research, 2023
NGS analysis of collagen type I genes in Polish patients with Osteogenesis imperfecta: a nationwide multicenter study.
Sałacińska K et al.
Frontiers in Endocrinology, 2023
Implementation of Public Funded Genome Sequencing in Evaluation of Fetal Structural Anomalies.
So PL et al.
Genes, 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
Dissecting the phenotypic variability of osteogenesis imperfecta.
Garibaldi N et al.
Disease Models & Mechanisms, 2022
Targeting TGF-β for treatment of osteogenesis imperfecta.
Song IW et al.
The Journal of Clinical Investigation, 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
Combined exome sequencing and deep phenotyping in highly selected fetuses with skeletal dysplasia during the first and second trimesters improves diagnostic yield.
Zhang X et al.
Prenatal Diagnosis, 2021
Clinical and genetic analysis in 185 Chinese probands of osteogenesis imperfecta.
Xi L et al.
Journal of Bone and Mineral Metabolism, 2021
Osteogenesis imperfecta: Novel genetic variants and clinical observations from a clinical exome study of 54 Indian patients.
Madhuri V et al.
Annals of Human Genetics, 2021
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
Inter- and Intrafamilial Phenotypic Variability in Individuals with Collagen-Related Osteogenesis Imperfecta.
Zhytnik L et al.
Clinical and Translational Science, 2020
Mutation spectrum of COL1A1/COL1A2 screening by high-resolution melting analysis of Chinese patients with osteogenesis imperfecta.
Ju M et al.
Journal of Bone and Mineral Metabolism, 2020
Comprehensive genetic analyses using targeted next-generation sequencing and genotype-phenotype correlations in 53 Japanese patients with osteogenesis imperfecta.
Ohata Y 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, 2019
Genotype-phenotype correlation study in 364 osteogenesis imperfecta Italian patients.
Maioli M et al.
European Journal of Human Genetics : Ejhg, 2019
The clinical application of single-sperm-based SNP haplotyping for PGD of osteogenesis imperfecta.
Chen L et al.
Systems Biology in Reproductive Medicine, 2019
Genotype-phenotype relationship in a large cohort of osteogenesis imperfecta patients with COL1A1 mutations revealed by a new scoring system.
Li LJ et al.
Chinese Medical Journal, 2019
Genotype-Phenotype Association Analysis Reveals New Pathogenic Factors for Osteogenesis Imperfecta Disease.
Shi J et al.
Frontiers in Pharmacology, 2019
Diagnostic strategies and genotype-phenotype correlation in a large Indian cohort of osteogenesis imperfecta.
Mrosk J et al.
Bone, 2018
Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta.
Caparros-Martin JA et al.
Molecular Genetics & Genomic Medicine, 2017
Clinical characteristics and the identification of novel mutations of COL1A1 and COL1A2 in 61 Chinese patients with osteogenesis imperfecta.
Zhang H et al.
Molecular Medicine Reports, 2016
Mutation analysis of the COL1A1 and COL1A2 genes in Vietnamese patients with osteogenesis imperfecta.
Ho Duy B et al.
Human Genomics, 2016
Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma.
Mauri L et al.
Orphanet Journal of Rare Diseases, 2016
A pilot study of gene testing of genetic bone dysplasia using targeted next-generation sequencing.
Zhang H et al.
Journal of Human Genetics, 2015
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
Targeted sequencing of a pediatric metabolic bone gene panel using a desktop semiconductor next-generation sequencer.
Rauch F et al.
Calcified Tissue International, 2014
Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta.
Stephen J et al.
American Journal of Medical Genetics. Part A, 2014
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.
Gentile FV et al.
Human Mutation, 2012
The identification of novel mutations in COL1A1, COL1A2, and LEPRE1 genes in Chinese patients with osteogenesis imperfecta.
Zhang ZL et al.
Journal of Bone and Mineral Metabolism, 2012
Novel human pathological mutations. Gene symbol: COL1A2. Disease: Osteogenesis imperfecta III.
Lin HY et al.
Human Genetics, 2010
Novel human pathological mutations. Gene symbol: COL1A2. Disease: osteogenesis imperfecta IV.
Lin HY et al.
Human Genetics, 2010
Novel human pathological mutations. Gene symbol: COL1A2. Disease: osteogenesis imperfecta IV.
Lin HY et al.
Human Genetics, 2010
Novel human pathological mutations. Gene symbol: COL1A2. Disease: osteogenesis imperfecta I.
Lin HY et al.
Human Genetics, 2010
Novel human pathological mutations. Gene symbol: COL1A2. Disease: osteogenesis imperfecta IV.
Lin HY et al.
Human Genetics, 2010
Novel human pathological mutations. Gene symbol: COL1A2. Disease: osteogenesis imperfecta I.
Lin HY et al.
Human Genetics, 2010
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Mutational spectrum of type I collagen genes in Korean patients with osteogenesis imperfecta.
Lee KS et al.
Human Mutation, 2006