Disease: Spondyloepiphyseal dysplasia tarda
- A genetic mouse model mimicking MET related human osteofibrous dysplasia is characterized by delays in fracture repair and defective osteogenesis
- A Mathematical Model for Fibrous Dysplasia: The Role of the Flow of Mutant Cells
- A Retrospective Study of the Presentation, Diagnosis, Management, and Outcomes of 27 Patients with Osteogenesis Imperfecta at a Single Center in Türkiye
- A standard set of outcome measures for the comprehensive assessment of oral health and occlusion in individuals with osteogenesis imperfecta
- Achondrogenesis type 1B: The need for clinical vigilance in the first trimester fetus with cystic hygroma and micromelic limbs
- Alendronate treatment rescues the effects of compressive loading of TMJ in osteogenesis imperfecta mice
- An exploratory open-label multicentre phase I/II trial evaluating the safety and efficacy of postnatal or prenatal and postnatal administration of allogeneic expanded fetal mesenchymal stem cells for the treatment of severe osteogenesis imperfecta in infa
- Analysis of clinical features of 193 Chinese patients with McCune-Albright syndrome through a literature review
- Analysis of genetic variants and molecular pathogenesis in a Chinese pedigree affected with Multiple epiphyseal dysplasia
- Analysis of the Actions of RARγ Agonists on Growing Osteochondromas in a Mouse Model
- Apremilast successfully treats cutaneous polyarteritis nodosa associated with SAPHO syndrome
- Association of the Achondroplasia Foramen Magnum Score and intraoperative neuromonitoring
- Atypical presentation of ACCES syndrome resembling dominant Spondyloepiphyseal dysplasia tarda
- Behavioral variant of frontotemporal dementia in carriers of biallelic TREM2 variants: cases study
- Biallelic variants in SLC26A2 cause multiple epiphyseal dysplasia-4 by disturbing chondrocyte homeostasis
- Bizarre parosteal osteochondromatous proliferation (Nora lesion) involving the spine: a case report and systematic review
- Bizarre parosteal osteochondromatous proliferation in the distal ulna where the lesion is continuous with the medullary cavity: a case report
- Building and validating an artificial intelligence model to identify tracheobronchopathia osteochondroplastica by using bronchoscopic images
- Cartilage-hair hypoplasia-anauxetic dysplasia spectrum disorders harboring RMRP mutations in two Korean children: A case report
- Case report: Complications of SAPHO syndrome: Thoracic outlet syndrome
- Case report: Ghosal hematodiaphyseal dysplasia-A rare cause of skeletal dysplasia and cytopenia
- Characterization of a spontaneous osteopetrosis model using RANKL-dysfunctional mice
- Characterization of hearing loss in pediatric patients with osteogenesis imperfecta
- Clavicle fractures recur with extending to lumbar vertebrae in SAPHO syndrome
- Clincopathological analysis of 171 patients with osteochondroma and malignant transformation in maxillofacial bone
- Clinical application of JAK inhibitors in SAPHO syndrome
- Clinicoradiological findings in a case of cleidocranial dysplasia
- Cross-sectional and longitudinal analysis of bone age maturation during peri-pubertal growth in children with type I, III and IV osteogenesis imperfecta
- Current situation of osteogenesis imperfecta in Spain: results from a Delphi study
- Data collection on rare bone and mineral conditions in Europe: The landscape of registries and databases
- Decade-long Trends in Incidence of Slipped Capital Femoral Epiphysis in the United States: A Nationwide Database Analysis of Over 33 Million Patients
- Dickkopf-1 (DKK1) blockade mitigates osteogenesis imperfecta (OI) related bone disease
- Does spinopelvic alignment affect femoral head cartilage and the proximal femoral physis in slipped capital femoral epiphysis? A finite element analysis
- Dynamic Scapular Winging Caused by Long Thoracic Nerve Compression due to Scapular Osteochondroma: A Case Report
- Effectiveness of whole exome sequencing analyses in the molecular diagnosis of osteogenesis imperfecta
- Examination of Optimal Frequency Processing in X-ray Images for Occult Femoral Neck Fractures
- Fibrous Dysplasia of the Parietal Bone with Focal Motor Seizures: A Case Report
- Gnathodiaphyseal dysplasia: Diagnostic clues from two fetal cases and literature review
- Homozygous TREM2 c.549del; p.(Leu184Serfs*5) variant causing Nasu-Hakola disease in three siblings in a consanguineous Iraqi family: Case report and review of literature
- Hyperostosis frontalis interna on fluorine-18 sodium fluoride PET/computed tomography of obese cancer patients: a potential mimicker of metastasis
- Hyperostosis Frontalis Simulating Metastatic Deposits: Unmasked on SPECT-CT
- Identification of a founder effect involving n.197C>T variant in RMRP gene associated to cartilage-hair hypoplasia syndrome in Brazilian patients
- Is JAK effective in treating recurrent SAPHO syndrome? TwHF might be a good choice
- Laparoscopic herniorrhaphy for inguinal hernia with thanatophoric dysplasia: A case report
- Letter to the editor: Re: Pathogenic mechanisms of osteogenesis imperfecta, evidence for classification
- Low muscle density in children with osteogenesis imperfecta using opportunistic low-dose chest CT: a case-control study
- Low selenium and T-2 toxin may be involved in the pathogenesis of Kashin-Beck disease by affecting AMPK/mTOR/ULK1 pathway mediated autophagy
- Lower extremity deformity and its risk factors in patients with solitary osteochondromas
- Malignant transformation of Ollier disease-related multiple glioma with IDH1 p.R132C mutation
- Melorheostosis: a rare osteopathy
- Metaphyseal anadysplasia type 1: Familial and regressive rickets manifestation
- Modulation of Ras signaling pathway by exosome miRNAs in T-2 toxin-induced chondrocyte injury
- Monoclonal gammopathy of clinical signifi cance with osteosclerotic lesions - a case report and a literature review
- Multisystem disorder associated with a pathogenic variant in CLCN7 in the absence of osteopetrosis
- Mutations in LIFR rewire the JAK/STAT signaling pathway: A study unveiling mechanistic details of Stüve-Wiedemann syndrome
- Natural history study of Pseudoachondroplasia: A focus on oral health
- Nonfamilial cherubism in a 6-month-old infant: a case report
- Novel biallelic PISD missense variants cause spondyloepimetaphyseal dysplasia with disproportionate short stature and fragmented mitochondrial morphology
- Novel genetic mutation associated with hyperphosphatemic familial tumoral calcinosis/hyperostosis-hyperphosphatemia syndrome treated with denosumab: a case report
- Osteogenesis Imperfecta type 1: like mother, like daughter - Challenges in the perinatal management
- Osteogenesis imperfecta type 10 and the cellular scaffolds underlying common immunological diseases
- Osteomesopyknosis associated with a novel ALOX5 variant that impacts the RANKL pathway
- Pain and fatigue in adult patients with multiple osteochondromas: The Netherlands
- Pamidronate Response in a Novel Biallelic CREB3L1 Gene Mutation-Associated Osteogenesis Imperfecta: A Case Report
- Perinatal imaging findings of a fetus with Pfeiffer syndrome and a heterozygous c.1019A>G, p.Tyr340Cys (Y340C) mutation in FGFR2 presenting a cloverleaf skull, craniosynostosis and short limbs on prenatal ultrasound mimicking thanatophoric dysplasia ty
- Plasma metabolites and inflammatory proteins profiling predict outcome of Fufang Duzhong Jiangu granules treating Kashin-Beck disease
- Pregnancy complicated by severe osteogenesis imperfecta poses a challenge for the anaesthetist: A case report
- Pregnancy complications and birth outcome in patients with osteogenesis imperfecta - A population-based register study
- Pregnancy outcomes following tofacitinib use for synovitis, acne, pustulosis, hyperostosis and osteitis syndrome: Case report
- Presentation of Rare Phenotypes Associated with the <em>FKBP10</em> Gene
- Prevalence of T-2 Toxin in the Food and Beverages of Residents Living in a Kashin-Beck-Disease Area of Qamdo, Tibet
- Profound T Lymphocyte and DNA Repair Defect Characterizes Schimke Immuno-Osseous Dysplasia
- Pseudoachondroplasia: Similar radiographic findings to mucopolysaccharidosis
- Pulmonary Embolism in Klippel-Trenaunay-Weber Syndrome With Slipped Capital Femoral Epiphysis
- Radioscapholunate Arthrodesis for Management of Madelung Deformity: A Case Report
- Rare radiological manifestation of enchondromatosis in children: Columnar pattern: A retrospective cohort study
- Recurrent fractures in a teen with osteopetrosis
- Resection of the entire first rib for giant osteochondroma by trans manubrial approach: a case report and review of the literature
- Review of patients with achondroplasia: a single-center's experience with follow-up and associated morbidities
- RNF135 Promotes Human Osteosarcoma Cell Growth and Inhibits Apoptosis by Upregulating the PI3K/AKT Pathway
- Role of Vickers Ligament in the Pathogenesis of Madelung Deformity
- Root resorption of primary molars and dental development of premolars in children with Osteogenesis Imperfecta medicated with bisphosphonates, grouped according to age and gender
- SAPHO syndrome after COVID-19 vaccination
- SAPHO syndrome is accompanied by a mysterious perforation of the sternum
- Sclerotic bone lesions: Think about tuberous sclerosis too
- Solitary thoracic spine osteochondroma: a rare cause for spinal cord compression
- Successful complete thoracoscopic resection of costal osteochondroma: A case report
- Surgeon Recommendations for Physical Activity in Patients With Pediatric Hip Conditions
- Syndromic growth retardation caused by impaired function of the ribosomal protein eL13
- The Effect of Human Growth Hormone Treatment on the Development of Slipped Capital Femoral Epiphysis-A Cohort Analysis With 6 Years of Follow-Up
- The evidence for achondroplasia in 1st century AD Italy
- The expression of SOCS1 is regulated by promoter DNA methylation and is associated with mitochondria-mediated apoptosis of T-2 induced chondrocytes
- The IFITM5 mutation in osteogenesis imperfecta type V is associated with an ERK/SOX9-dependent osteoprogenitor differentiation defect
- The impact of foot orthoses on gait in children with Osteogenesis Imperfecta type I, III and IV - a cross-sectional study
- The IMPACT Survey: the economic impact of osteogenesis imperfecta in adults
- The PATCH study: Prevalence of Hearing Loss During Ageing and Treatment Choices in Osteogenesis Imperfecta: A Danish Nationwide Register-Based Cohort Study
- The Role of Routine Pathologic Assessment After Pediatric Osteochondroma Excision
- Thumb tip osteochondroma - a rare site of osteochondroma
- Trichorhinophalangeal Syndrome Orthopaedic Manifestations and Management: A Systematic Review
- Uremic Leontiasis Ossea