• "Osteogenesis Imperfecta Patients Wish Orthopedic Surgeons Had Better Strategies to Help with…"-Results of a Patient and Parent-Oriented Survey
• A case of cerebellar hypoplasia in a Chinese infant with osteogenesis imperfecta
• A Founder Intronic Variant in <em>P3H1</em> Likely Results in Aberrant Splicing and Protein Truncation in Patients of Karen Descent with Osteogenesis Imperfecta Type VIII
• A Fracture From a Physical Exam: A Case Report of Osteogenesis Imperfecta and the Use of Fassier-Duval Rods
• A G560S mutation in alpha1 (I) collagen causes familial osteogenesis imperfecta type IV
• A juvenile with compromised osteogenesis provides insights into past hunter-gatherer lives
• A novel variant of osteogenesis imperfecta type IV and low serum phosphorus level caused by a Val94Asp mutation in COL1A1
• A Sporadic Case of <em>COL1A1</em> Osteogenesis Imperfecta: From Prenatal Diagnosis to Outcomes in Infancy-Case Report and Literature Review
• A type IV osteogenesis imperfecta family and pregnancy: a case report and literature review
• A variant of osteogenesis imperfecta type IV with resolving kyphomelia is caused by a novel COL1A2 mutation
• Alterations of bone material properties in growing Ifitm5/BRIL p.S42 knock-in mice, a new model for atypical type VI osteogenesis imperfecta
• An Unusual Diagnosis of Sporadic Type III Osteogenesis Imperfecta in the First Day of Life
• Analysis of COL1A1 and COL1A2 gene variants in two fetuses with osteogenesis imperfecta
• Analysis of type IV osteogenesis imperfecta caused by two mutations occurred simultaneously in COL1A1 gene in a Chinese child
• Association of osteogenesis imperfecta and glaucoma: case report
• Basilar impression complicating osteogenesis imperfecta type IV: the clinical and neuroradiological findings in four cases
• Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress
• Bone allografting: an original method for biological osteosynthesis and bone reinforcement in children with osteogenesis imperfecta
• Bone Mass, Density, Geometry, and Stress-Strain Index in Adults With Osteogenesis Imperfecta Type I and Their Associations With Physical Activity and Muscle Function Parameters
• Case report: Early-onset osteoporosis in a patient carrying a novel heterozygous variant of the <em>WNT1</em> gene
• Cell differentiation and matrix organization are differentially affected during bone formation in osteogenesis imperfecta zebrafish models with different genetic defects impacting collagen type I structure
• Characterization of a type I collagen alpha 2(I) glycine-586 to valine substitution in osteogenesis imperfecta type IV. Detection of the mutation and prenatal diagnosis by a chemical cleavage method
• Children with severe Osteogenesis imperfecta and short stature present on average with normal IGF-I and IGFBP-3 levels
• Clinical and genetic characteristics of 9 rare cases with coexistence of dual genetic diagnoses
• Clinical application of antenatal genetic diagnosis of osteogenesis imperfecta type IV
• Clinical features and molecular characterization of Chinese patients with FKBP10 variants
• COL1A1 and COL1A2 variants in Ehlers-Danlos syndrome phenotypes and COL1-related overlap disorder
• Comparative studies of osteoblast and fibroblast type I collagen in a patient with osteogenesis imperfecta type IV
• Comprehensive risk assessments and anesthetic management for children with osteogenesis imperfecta: A retrospective review of 252 orthopedic procedures over 5 years
• Craniofacial morphology in adults with osteogenesis imperfecta-A cross-sectional study
• Cross-sectional and longitudinal analysis of bone age maturation during peri-pubertal growth in children with type I, III and IV osteogenesis imperfecta
• Cystic kidneys associated with connective tissue disorders
• Deletion of a Gly-Pro-Pro repeat in the pro alpha2(I) chain of procollagen I in a family with dominant osteogenesis imperfecta type IV
• Delivering a Home-Based Exercise Program to Youth With Osteogenesis Imperfecta: Protocol for a Comparative-Approach Study
• Dental anomalies in individuals with osteogenesis imperfecta: a systematic review and meta-analysis of prevalence and comparative studies
• Dental Implants in Patients with Osteogenesis Imperfecta - Clinical and Radiographic Outcome in Six Patients
• Dental phenotype in an adolescent with osteogenesis imperfecta type XII
• Diagnostic distribution and postnatal evaluation of prenatally detected short femur: A single center experience
• Distinctive tomographic abnormalities of the craniocervical region in a patient with osteogenesis imperfecta type IV B
• Dysfunction of Caveolae-Mediated Endocytic TβRI Degradation Results in Hypersensitivity of TGF-β/Smad Signaling in Osteogenesis Imperfecta
• Enhanced Callus Formation After Six Weeks of Parathyroid Hormone Treatment in a Man with Multiple Pelvic Fractures and Osteogenesis Imperfecta Type IV: A Case Report
• Exploring pain interference and self-perceived health status in children with osteogenesis imperfecta - a cross-sectional study
• Expression of mutant alpha (I)-procollagen in osteoblast and fibroblast cultures from a proband with osteogenesis imperfecta type IV
• Genetic analysis of osteogenesis imperfecta in a large Brazilian cohort
• Growing Rod Surgery for Early-Onset Scoliosis in an Osteogenesis Imperfecta Patient
• Growth Arrest in Type IV Osteogenesis Imperfecta After Fassier-Duval Rod Insertion Treated by a Lengthening Magnetic Intramedullary Nail: A Case Report
• Incidence and treatment of femur fractures in adults with osteogenesis imperfecta: an analysis of an expert clinic of 216 patients
• Intracranial aneurysm as a possible complication of osteogenesis imperfecta: a case series and literature review
• Keratoconus tomographic indices in osteogenesis imperfecta
• Mineral and matrix changes in Brtl/+ teeth provide insights into mineralization mechanisms
• Mitigating the Denosumab-Induced Rebound Phenomenon with Alternating Short- and Long-Acting Anti-resorptive Therapy in a Young Boy with Severe OI Type VI
• Modeling anabolic and antiresorptive therapies for fracture healing in a mouse model of osteogenesis imperfecta
• Multidisciplinary Treatment of Severe Osteogenesis Imperfecta: Functional Outcomes at Skeletal Maturity
• Muscle Function in Osteogenesis Imperfecta Type IV
• Mutational and structural characteristics of four novel heterozygous C-propeptide mutations in the proα1(I) collagen gene in Chinese osteogenesis imperfecta patients
• Mutational Screening of Skeletal Genes in 14 Chinese Children with Osteogenesis Imperfecta Using Targeted Sequencing
• Mutations in FKBP10 can cause a severe form of isolated Osteogenesis imperfecta
• Novel human pathological mutations. Gene symbol: COL1A2. Disease: osteogenesis imperfecta IV
• Opalescent dentine in two affected siblings
• Osteogenesis Imperfecta (Type IV) with Dental Findings in Siblings
• Osteogenesis imperfecta and clubfoot-a rare combination: Case report and review of the literature
• Osteogenesis imperfecta and hyperplastic callus formation in a family: a report of three cases and a review of the literature
• Osteogenesis imperfecta and rheumatoid arthritis: connective issues
• Osteogenesis imperfecta Type IV: a newly identified variant at position c.560 (G &gt; T; p.Gly187Val) in the COL1A2 gene
• Osteogenesis imperfecta Type IV: a newly identified variant at position c.560 (G > T; p.Gly187Val) in the COL1A2 gene
• Osteogenesis imperfecta type IV: prenatal molecular diagnosis and genetic counseling in a pregnancy carried to full term with favorable outcome
• Osteogenesis imperfecta with ectopic mineralizations in dentin and cementum and a COL1A2 mutation
• Osteogenesis Imperfecta/Ehlers-Danlos Overlap Syndrome and Neuroblastoma-Case Report and Review of Literature
• Osteogenesis imperfecta/lobstein syndrome associated with dentinogenesis imperfecta
• Outcomes of Pediatric Osteogenesis Imperfecta Patients Requiring Port-a-Cath Placement for Long-Term Vascular Access
• Phenotypic comparison of an osteogenesis imperfecta type IV proband with a de novo alpha2(I) Gly922 --&gt; Ser substitution in type I collagen and an unrelated patient with an identical mutation
• Phenotypic comparison of an osteogenesis imperfecta type IV proband with a de novo alpha2(I) Gly922 --> Ser substitution in type I collagen and an unrelated patient with an identical mutation
• Pre- and postnatal transplantation of fetal mesenchymal stem cells in osteogenesis imperfecta: a two-center experience
• Prenatal diagnosis of a missense mutation of c.2279G&gt;A, Gly760Glu in exon 37 of COL1A2 in a fetus with familial osteogenesis imperfecta type IV and favorable outcome
• Prenatal diagnosis of a missense mutation of c.2279G>A, Gly760Glu in exon 37 of COL1A2 in a fetus with familial osteogenesis imperfecta type IV and favorable outcome
• Prevalence and Hospital Admissions in Patients With Osteogenesis Imperfecta in The Netherlands: A Nationwide Registry Study
• Pubertal growth in osteogenesis imperfecta caused by pathogenic variants in COL1A1/COL1A2
• Recessive osteogenesis imperfecta caused by missense mutations in SPARC
• Relationship of Pathogenic Mutations and Responses to Zoledronic Acid in a Cohort of Osteogenesis Imperfecta Children
• Respiratory function of children and adolescents with osteogenesis imperfecta: respiratory muscle strength, forced vital capacity, and peak expiratory flow
• Results of a prospective pilot trial on mobility after whole body vibration in children and adolescents with osteogenesis imperfecta
• Rib cage deformities alter respiratory muscle action and chest wall function in patients with severe osteogenesis imperfecta
• RNA Sequencing of Urine-Derived Cells for the Characterization and Diagnosis of Osteogenesis Imperfecta
• Scoliosis and Cardiopulmonary Outcomes in Osteogenesis Imperfecta Patients
• Serum 24,25-dihydroxyvitamin D concentrations in osteogenesis imperfecta: relationship to bone parameters
• Skeletal muscle mitochondrial function and whole-body metabolic energetics in the +/G610C mouse model of osteogenesis imperfecta
• Skeletal outcomes of patients with osteogenesis imperfecta during drug holiday of bisphosphonates: a real-world study
• Spontaneous reshaping of vertebral fractures in an adolescent with osteogenesis imperfecta
• Substitution of serine for glycine 883 in the triple helix of the pro alpha 1 (I) chain of type I procollagen produces osteogenesis imperfecta type IV and introduces a structural change in the triple helix that does not alter cleavage of the molecule by p
• Suitability of growth standards for growth monitoring in children with genetic diseases
• Supracondylar femur fracture repair using IlluminOss in a patient with Osteogenesis Imperfecta type 4
• Surgical Strategy to Decrease the Revision Rate of Fassier-Duval Nailing in the Lower Limbs of Osteogenesis Imperfecta
• The Effect of Whole Body Vibration Training on Bone and Muscle Function in Children With Osteogenesis Imperfecta
• The impact of foot orthoses on gait in children with Osteogenesis Imperfecta type I, III and IV - a cross-sectional study
• The mistaken diagnosis of child abuse: a three-year USAF Medical Center analysis and literature review
• The radiotherapy of hyperplastic heterotopic ossification in osteogenesis imperfecta. 2 case reports
• The Use of Growing Rods in the Treatment of Early Onset Scoliosis for Patients with Type 4 Osteogenesis Imperfecta: A Case Report
• Three novel type I collagen mutations in osteogenesis imperfecta type IV probands are associated with discrepancies between electrophoretic migration of osteoblast and fibroblast collagen
• Unequal Impact of <em>COL1A1</em> and <em>COL1A2</em> Variants on Dentinogenesis Imperfecta
• Zebrafish Tric-b is required for skeletal development and bone cells differentiation