Associated Papers
Cardiac health, type I collagen, and aging in the oim/oim mouse model of osteogenesis imperfecta and a cohort of adults with OI.
Lafaver BN et al.
American Journal of Physiology. Heart and Circulatory Physiology, 2025
A rare association of osteogenesis imperfecta and juvenile idiopathic arthritis: case reports and literature review.
Zora HK et al.
The Turkish Journal of Pediatrics, 2025
Exome Sequencing for the Diagnostics of Osteogenesis Imperfecta in Six Russian Patients.
Koshevaya YS et al.
Current Issues in Molecular Biology, 2024
Genotype-phenotype relationship and comparison between eastern and western patients with osteogenesis imperfecta.
Lin X et al.
Journal of Endocrinological Investigation, 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
Scoliosis in osteogenesis imperfecta: identifying the genetic and non-genetic factors affecting severity and progression from longitudinal data of 290 patients.
Chen P et al.
Orphanet Journal of Rare Diseases, 2023
Genetic analysis of osteogenesis imperfecta in a large Brazilian cohort.
Holtz AP et al.
Bone, 2023
Corneal Biomechanical Characteristics in Osteogenesis Imperfecta With Collagen Defect.
Chou CC et al.
Translational Vision Science & Technology, 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
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
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
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
Bilateral retinoblastoma and osteogenesis imperfecta, a very rare association: Two cases.
De Francesco S et al.
European Journal of Ophthalmology, 2021
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
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
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
Aggressive natural killer-cell leukemia mutational landscape and drug profiling highlight JAK-STAT signaling as therapeutic target.
Dufva O et al.
Nature Communications, 2018
Efficacy of Denosumab for Osteoporosis in Three Female Patients with Osteogenesis Imperfecta.
Uehara M et al.
The Tohoku Journal of Experimental 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
HydPred: a novel method for the identification of protein hydroxylation sites that reveals new insights into human inherited disease.
Li S et al.
Molecular Biosystems, 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
Identification of gene mutation in patients with osteogenesis imperfect using high resolution melting analysis.
Wang J et al.
Scientific Reports, 2015
[Analysis of the gene mutation in an inherited FVII deficiency patient].
Li R et al.
Zhonghua Yi Xue Za Zhi, 2015
Cyclic pamidronate infusion for neonatal-onset osteogenesis imperfecta.
Lin CH et al.
Pediatrics and Neonatology, 2014
Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome.
Malfait F et al.
Orphanet Journal of Rare Diseases, 2013
Whole exome sequencing is an efficient, sensitive and specific method of mutation detection in osteogenesis imperfecta and Marfan syndrome.
McInerney-Leo AM et al.
Bonekey Reports, 2013
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
[Studies of type I collagen (COL1A1) alpha1 chain in patients with osteogenesis imperfecta].
Nadyrshina DD et al.
Genetika, 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
Osteogenesis Imperfecta: the audiological phenotype lacks correlation with the genotype.
Swinnen FK et al.
Orphanet Journal of Rare Diseases, 2011
A novel DHPLC-based procedure for the analysis of COL1A1 and COL1A2 mutations in osteogenesis imperfecta.
Fuccio A et al.
The Journal of Molecular Diagnostics : Jmd, 2011
Mutational spectrum of type I collagen genes in Korean patients with osteogenesis imperfecta.
Lee KS et al.
Human Mutation, 2006
Genetic and biochemical analyses of Israeli osteogenesis imperfecta patients.
Ries-Levavi L et al.
Human Mutation, 2004