Disease: Hyperostosis corticalis generalisata
- 'BLUES' procedure for assessing the blue level of the sclera in Osteogenesis Imperfecta
- A Case of Breast Cancer Complicated by Fibrous Dysplasia That Was Difficult to Differentiate from Bone Metastasis
- A focus on melorheostosis disease: a literature review and case report of femoral-acetabular impingement due to melorheostosis treated with surgical hip osteoplasty
- A Rare Case of Hereditary Multiple Exostoses in a Woman
- Allogenic hematopoietic stem cell transplantation in an Iranian patient with osteopetrosis caused by carbonic anhydrase II deficiency: A case report
- Altered oral microbiome, but normal human papilloma virus prevalence in cartilage-hair hypoplasia patients
- An integrated transcriptomics and network pharmacology approach to explore the mechanism of Wang-Bi tablet against SAPHO syndrome
- Assessment of 3.0 Tesla magnetic resonance imaging in Madelung's deformity: findings and implications
- Association between lung function and bone mineral density in children and adolescents: Insights from the NHANES
- Bilateral Femoral Neck Pseudarthrosis in an Adolescent Girl With Congenital Spondyloepiphyseal Dysplasia. The Treatment Journey: A Case Report
- Bilateral Slipped Capital Femoral Epiphysis in a Young Girl Treated With Chemotherapy: A Case Report
- Bleeding assessment in a large cohort of patients with Osteogenesis Imperfecta
- Caffey's disease in disguise: a child abuse mimic
- Case report: Refractory Evans syndrome in two patients with spondyloenchondrodysplasia with immune dysregulation treated successfully with JAK1/JAK2 inhibition
- Choosing the Best Tissue and Technique to Detect Mosaicism in Fibrous Dysplasia/McCune-Albright Syndrome (FD/MAS)
- Clinical and genetic analysis of a patient with short stature due to variant of RPL13 gene
- Clinical phenotype and genetic analysis of a child featuring short stature and multiple skeletal dysplasia
- Clinico-radiological features of cherubism
- Coexistence of meningioma and craniofacial fibrous dysplasia: a case series of clinicopathological study and literature review
- Comparison of 18 F-FAPI and 18 F-FDG PET/CT in a Patient With Fibrous Dysplasia
- CT Scan Data Analysis in Malformations of Cortical Development
- Curcumin and Resveratrol: Nutraceuticals with so Much Potential for Pseudoachondroplasia and Other ER-Stress Conditions
- Diagnostic journey for individuals with fibrous dysplasia / McCune albright syndrome (FD/MAS)
- Dilemma with implant placement in patients with florid cemento-osseous dysplasia: A literature review
- Dramatic response of synovitis, acne, pustulosis, hyperostosis, and osteitis syndrome to tofacitinib monotherapy: a case report
- Early insights into the role of Exoc6B associated with spondyloepimetaphyseal dysplasia with joint laxity type 3 in primary ciliogenesis and chondrogenic differentiation in vitro
- Echocardiographic abnormalities and joint hypermobility in Chinese patients with Osteogenesis imperfecta
- Ellis-van Creveld syndrome: a case report
- Evaluation of simultaneous bilateral femoral distraction osteogenesis with antegrade intramedullary lengthening nails in achondroplasia with rhizomelic short stature: a retrospective study of 15 patients with a minimum follow-up of 2 years
- Exome sequencing identified mutations in the WNT1 and COL1A2 genes in osteogenesis imperfecta cases
- Expert consensus on diagnosis and management of McCune-Albright syndrome in children (2023)
- Exploring the Micro-Mosaic Landscape of <em>FGFR3</em> Mutations in the Ageing Male Germline and Their Potential Implications in Meiotic Differentiation
- Features and results of surgical rehabilitation of hearing loss in osteogenesis imperfecta
- Functional Roles of CD26/DPP4 in Bleomycin-Induced Pulmonary Hypertension Associated with Interstitial Lung Disease
- Further delineation of phenotype and genotype of Kenny-Caffey syndrome type 2 (phenotype and genotype of KCS type 2)
- Generation of skin-derived iPSCs from an Osteogenesis imperfecta patient carrying WNT1<sup>c.677C>T</sup> mutation
- Genetically confirmed coexistence of neurofibromatosis type 1 and Cherubism in a pediatric patient
- Genotypic Characterization of a Chinese Family with Osteogenesis Imperfecta and Generation of Disease-Specific Induced Pluripotent Stem Cells
- Gingival proteomics reveals the role of TGF beta and YAP/TAZ signaling in Raine syndrome fibrosis
- Hand Radiographs in Skeletal Dysplasia: A Pictorial Review
- Heterogeneity and high prevalence of bone manifestations, and bone mineral density in congenital generalized lipodystrophy subtypes 1 and 2
- Heterozygous gain of function variant in GUCY1A2 may cause autonomous ovarian hyperfunction
- Home care needs assessment among caregivers of children and adolescents with osteogenesis imperfecta: a cross-sectional study
- Imaging in osteogenesis imperfecta: Where we are and where we are going
- Imaging of Fibro-osseous Lesions and Other Bone Conditions of the Jaws
- Implications of neuropathy and management of the corneal surface in a patient with Stuve-Wiedemann syndrome
- In Vitro Modelling of Osteogenesis Imperfecta with Patient-Derived Induced Mesenchymal Stem Cells
- Increased Proteolytic Activity of <em>Serratia marcescens</em> Clinical Isolate HU1848 Is Associated with Higher <em>eepR</em> Expression
- Intoxication of antibiotic persisters by host RNS inactivates their efflux machinery during infection
- Is apremilast a treatment for SAPHO syndrome?
- Isolated dentinogenesis imperfecta: Novel DSPP variants and insights on genetic counselling
- Joint Space Widening in Multiple Epiphyseal Dysplasia
- Leucine improves thiram-induced tibial dyschondroplasia and gut microbiota dysbiosis in broilers
- Ligamentous laxity in children with achondroplasia: Prevalence, joint involvement, and implications for early intervention strategies
- Limited angular remodelling after in-situ fixation for slipped capital femoral epiphysis : A study on radiographs from the Swedish pediatric orthopaedic quality registry for SCFE
- Marshall syndrome
- Mazabraud Syndrome: Clinical Review and Therapeutic Approach Regarding a Case Report
- Measurement of the Neutrophils Count and Oxidative Burst in Neutrophils of Patients with Sanjad Sakati Syndrome
- Medullary Compression by a Cervical Osteochondroma in a Patient with Multiple Hereditary Exostoses: A Case Report
- Melorheostosis: A rare disease of the bone
- Molecular mechanism of thiram-induced abnormal chondrocyte proliferation via lncRNA MSTRG.74.1-BNIP3 axis
- Molecular Mechanisms in Pathophysiology of Mucopolysaccharidosis and Prospects for Innovative Therapy
- New treatments for children with achondroplasia
- Ocular manifestations suggest osteogenesis imperfecta in a previously undiagnosed adult following polytrauma
- Ossifying fibroma mimiking jaw tumour: A radiographic dilema
- Osteochondrolipoma of the foot treated by surgical excision: a case report and literature review
- Osteochondroplastic tracheobronchopathy: Four case reports
- Osteofibrous dysplasia: a narrative review
- Osteogenesis imperfecta: a cross-sectional study of skeletal and extraskeletal features in a large cohort of Italian patients
- Paradoxical skin lesions induced by IL-17 inhibitors in SAPHO syndrome
- Performance evaluation of a deep learning model for automatic detection and localization of idiopathic osteosclerosis on dental panoramic radiographs
- Pharmacokinetics of Baricitinib in Cerebrospinal Fluid and Plasma in a Patient with SPENCD
- Polyostotic cystic fibrous dysplasia of the spine and ribs
- Possible involvement of zinc transporter ZIP13 in myogenic differentiation
- RANKL inhibition reduces lesional cellularity and Gα<sub>s</sub> variant expression and enables osteogenic maturation in fibrous dysplasia
- Re: Propofol in Triple Trouble Kearns-Sayre Syndrome, Dyggve-Melchior-Clausen Syndrome, and Chromosome-9 Inversion
- Recent research advances in pain mechanisms in McCune-Albright syndrome thinking about the pain mechanism of FD/MAS
- Recurrence of exostosis as a result of medication-induced bruxism: case study
- Relevance of Extending FGFR3 Gene Analysis in Osteochondrodysplasia to Non-Coding Sequences: A Case Report
- Research progress on the pathogenic mechanisms, diagnosis and treatment of McCune-Albright syndrome
- Review of published 467 achondroplasia patients: clinical and mutational spectrum
- SAPHO syndrome with refractory mandibular osteitis
- Secondary peripheral chondrosarcoma in multiple osteochondromas: a retrospective single-institution case series
- Severe Multilevel Tracheal Stenosis with Significant Twisting in a Patient with Spondylometaphyseal Dysplasia: A Case Report
- Severe skeletal dysplasia caused by a novel FLNB gene mutation
- Short-term effects of Mediterranean diet on nutritional status in adults affected by Osteogenesis Imperfecta: a pilot study
- Spontaneous fracture of the ulna secondary to radial osteochondroma
- Stable slipped capital femoral epiphysis with significant deformity
- Synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome may present with extra-articular and cutaneous manifestations
- Synovitis, acne, pustulosis, hyperostosis, and osteitis syndrome: Is radiological imaging adequate for the diagnosis?
- The impact of craniofacial and dental osteogenesis imperfecta manifestations on oral health-related quality of life of children and adolescents
- The impact of osteogenesis imperfecta severity on oral health-related quality of life in Spain: a cross-sectional study
- The IMPACT survey: a mixed methods study to understand the experience of children, adolescents and adults with osteogenesis imperfecta and their caregivers
- The incidence and management of slipped capital femoral epiphysis: a population-based study
- Type 1 collagen: Synthesis, structure and key functions in bone mineralization
- Unraveling the genetic collagen connection: clinical and therapeutic insights on genetic connective tissue disorders
- Use of Multiple Machine Learning Approaches for Selecting Urothelial Cancer-Specific DNA Methylation Biomarkers in Urine
- Validation of Risk Factors for Early Mortality in Cartilage-Hair Hypoplasia
- Whole-Transcriptome Sequencing of Knee Joint Cartilage from Kashin-Beck Disease and Osteoarthritis Patients
- Zebrafish as a model to investigate a biallelic gain-of-function variant in MSGN1, associated with a novel skeletal dysplasia syndrome