Disease: Osteogenesis imperfecta- type 4
- "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
- Are prosecuted parents allowed the benefit of the doubt in cases of child abuse?
- 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
- 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
- Moderately severe osteogenesis imperfecta: biochemical studies showing variable defect localization in the triple-helical domain of type I collagen
- 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 > 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 --> 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>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 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