Disease: Schwartz Jampel syndrome
- 'BLUES' procedure for assessing the blue level of the sclera in Osteogenesis Imperfecta
- A focus on melorheostosis disease: a literature review and case report of femoral-acetabular impingement due to melorheostosis treated with surgical hip osteoplasty
- A novel termination site in a case of Stuve-Wiedemann syndrome: case report and review of literature
- A Rare Case of Hereditary Multiple Exostoses in a Woman
- A rare skeletal dysplasia in the etiology of severe scoliosis: Diaphanospondylodysostosis
- A Role for Thyroid Testing in Slipped Capital Femoral Epiphysis? 32% Rate of Abnormal Values in Tested Patients
- A statistical symptomatic evaluation on SAPHO syndrome from 56 cases of confirmed diagnosis and 352 cases of non-SAPHO involvement
- 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
- Bariatric Surgery in Patients with Achondroplasia, a Feasibility Study of Two Case Studies
- 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
- Bone microarchitecture and strength assessment in adults with osteogenesis imperfecta using HR-pQCT: normative comparison and challenges
- Case report: Refractory Evans syndrome in two patients with spondyloenchondrodysplasia with immune dysregulation treated successfully with JAK1/JAK2 inhibition
- Caution with noninvasive prenatal screening for single gene disorders: A case report of a COL1A1 variant in osteogenesis imperfecta
- Cervicomedullary Compression in Achondroplasia: A Feared Complication and an Unforeseen Risk Factor of Posterior Circulation Stroke
- Cis-regulatory control of mammalian Trps1 gene expression
- Clinical and genetic analysis of a patient with short stature due to variant of RPL13 gene
- 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
- Current knowledge of bone-derived factor osteocalcin: its role in the management and treatment of diabetes mellitus, osteoporosis, osteopetrosis and inflammatory joint diseases
- 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
- Dyssegmental dysplasia Rolland-Desbuquois type is caused by pathogenic variants in HSPG2 - a founder haplotype shared in five patients
- Echocardiographic abnormalities and joint hypermobility in Chinese patients with Osteogenesis imperfecta
- Ellis-van Creveld syndrome: a case report
- Exome sequencing identified mutations in the WNT1 and COL1A2 genes in osteogenesis imperfecta cases
- Exploring the Micro-Mosaic Landscape of <em>FGFR3</em> Mutations in the Ageing Male Germline and Their Potential Implications in Meiotic Differentiation
- Fibrous dysplasia of the head and neck in Southern Finland: a retrospective study on clinical characteristics, diagnostics, and treatment
- Fosl2 Deficiency Predisposes Mice to Osteopetrosis, Leading to Bone Marrow Failure
- Further delineation of phenotype and genotype of Kenny-Caffey syndrome type 2 (phenotype and genotype of KCS type 2)
- Genome Mining Uncovers a Flavoenzyme-Catalyzed Isomerization Process during the Maturation of Pyrenophorol Dilactones
- Gingival proteomics reveals the role of TGF beta and YAP/TAZ signaling in Raine syndrome fibrosis
- Hand Radiographs in Skeletal Dysplasia: A Pictorial Review
- Health-related quality of life and associated risk factors in patients with Multiple Osteochondromas: a cross-sectional study
- Hemiepiphysiodesis for Genu Valgum in Patients With Multiple Hereditary Exostoses
- 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
- Identification of a family with van der Hoeve's syndrome harboring a novel COL1A1 mutation and generation of patient-derived iPSC lines and CRISPR/Cas9-corrected isogenic iPSCs
- Identification of kinesin family member (KIF22) homozygous variants in spondyloepimetaphyseal dysplasia with joint laxity, lepdodactylic type and demonstration of proteoglycan biosynthesis impairment
- Imaging in osteogenesis imperfecta: Where we are and where we are going
- Imaging of Fibro-osseous Lesions and Other Bone Conditions of the Jaws
- Impaired muscle parameters in adults with mild to severe types of osteogenesis imperfecta: a cross-sectional study
- 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
- Influence of zoledronic acid and pamidronate on tooth eruption in children with osteogenesis imperfecta
- Intoxication of antibiotic persisters by host RNS inactivates their efflux machinery during infection
- Intraoperative Epiphyseal Perfusion Monitoring Does Not Reliably Predict Osteonecrosis Following Treatment of Unstable SCFE
- Investigating pelvic drop gait abnormality in adolescent hip pathology patients
- Isolated dentinogenesis imperfecta: Novel DSPP variants and insights on genetic counselling
- 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
- Madelung deformity
- 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
- miR-206a-3p suppresses the proliferation and differentiation of chicken chondrocytes in tibial dyschondroplasia by targeting BMP6
- Molecular mechanism of thiram-induced abnormal chondrocyte proliferation via lncRNA MSTRG.74.1-BNIP3 axis
- 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
- 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
- Project SATURN- a real-world evidence data collaboration with existing European datasets in Osteogenesis Imperfecta to support future therapies
- 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
- 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
- Surgical outcome after treatment of thoracolumbar spinal stenosis in adults with achondroplasia
- Synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome may present with extra-articular and cutaneous manifestations
- The autophagy-mediated mechanism via TSC1/mTOR signaling pathway in thiram-induced tibial dyschondroplasia of broilers
- 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
- Tofacitinib: a successful treatment option for SAPHO syndrome
- TRPS1 modulates chromatin accessibility to regulate estrogen receptor alpha (ER) binding and ER target gene expression in luminal breast cancer cells
- Tuning the optoelectronic properties of selenophene-diketopyrrolopyrrole-based non-fullerene acceptor to obtain efficient organic solar cells through end-capped modification
- 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
- 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