Disease: Epiphyseal dysplasia- multiple- 5
- <em>SLC26A2</em>-Associated Diastrophic Dysplasia and rMED-Clinical Features in Affected Finnish Children and Review of the Literature
- A boy with developmental delay, malformations, and evidence of a connective tissue disorder: possibly a new type of cutis laxa
- A case of congenital multiple epiphyseal dysplasia from the Late Migration Period graveyard in Drnholec (Czech Republic)
- A case with oto-spondylo-mega-epiphyseal-dysplasia (OSMED): the clinical recognition and differential diagnosis
- A complex 6p25 rearrangement in a child with multiple epiphyseal dysplasia
- A distinct form of spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL)-leptodactylic type: radiological characteristics in seven new patients
- A mutation in cartilage oligomeric matrix protein (COMP) causes early-onset osteoarthritis in a large kindred study
- A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity
- A novel COMP mutation in an Inuit patient with pseudoachondroplasia and severe short stature
- A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype
- Age Dependent Progression of Multiple Epiphyseal Dysplasia and Pseudoachondroplasia Due to Heterozygous Mutations in COMP Gene
- Alu-Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias
- An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs
- An unfolded protein response is the initial cellular response to the expression of mutant matrilin-3 in a mouse model of multiple epiphyseal dysplasia
- Cartilage oligomeric matrix protein and its binding partners in the cartilage extracellular matrix: interaction, regulation and role in chondrogenesis
- Case report: Autosomal recessive type 3 Stickler syndrome caused by compound heterozygous mutations in <em>COL11A2</em>
- Clinical and genetic characteristics of 9 rare cases with coexistence of dual genetic diagnoses
- Clinical and Molecular Characterization and Discovery of Novel Genetic Mutations of Chinese Patients with <em>COL2A1</em>-related Dysplasia
- Clinical and radiological diagnosis of progressive pseudorheumatoid dysplasia in two sisters with severe polyarthropathy
- Clinical diagnosis and WISP3 gene mutation analysis for progressive pseudorheumatoid dysplasia
- Clinical features and treatment of the hip in multiple epiphyseal dysplasia in childhood
- Clinical features of multiple epiphyseal dysplasia expressed in the knee
- Clinical, radiographic, and pathologic abnormalities in dogs with multiple epiphyseal dysplasia: 19 cases (1991-2005)
- COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia
- Comparison of orthopaedic manifestations of multiple epiphyseal dysplasia caused by MATN3 versus COMP mutations: a case control study
- Curcumin Reduces Pathological Endoplasmic Reticulum Stress through Increasing Proteolysis of Mutant Matrilin-3
- Deformity correction with total knee arthroplasty for severe knee osteoarthritis accompanying extra-articular femoral deformity: the results are promising
- Delayed-onset progressive pseudorheumatoid dysplasia with secondary synovial chondromatosis
- Disruption of extracellular matrix structure may cause pseudoachondroplasia phenotypes in the absence of impaired cartilage oligomeric matrix protein secretion
- Distinct, autosomal recessive form of spondyloepimetaphyseal dysplasia segregating in an inbred Pakistani kindred
- Does Flexion Varus Osteotomy Improve Radiographic Findings Compared With Patients Treated in a Brace for Late-onset Legg-Calvé-Perthes Disease?
- Dysplasia epiphysealis hemimelica (Trevor disease): a rare developmental disorder of bone mimicking osteochondroma of long bones
- Exclusion of the dymeclin and PAPSS2 genes in a novel form of spondyloepimetaphyseal dysplasia and mental retardation
- Exome-wide copy number variation analysis identifies a COL9A1 in frame deletion that is associated with hearing loss
- Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia
- Expression of cartilage oligomeric matrix protein (COMP) by embryonic and adult osteoblasts
- Extensive Arthroscopic Chondroplasty for Cartilage Hyperplasia of the Femoral Condyle Causing Recurrent Knee Locking in a Patient With Multiple Epiphyseal Dysplasia
- Familial lethal skeletal dysplasia with cloverleaf skull and multiple anomalies of brain, eye, face and heart: a new autosomal recessive multiple congenital anomalies syndrome
- Forearm lengthening by distraction osteogenesis: A report on 5 limbs in 3 cases
- Functional Outcomes of Hip Arthroscopy for Pediatric and Adolescent Hip Disorders
- Fusion of double-layered patella using a single small fragment partially threaded screw: a case report
- Hemiepiphyseal stapling for angular deformity correction around the knee joint in children with multiple epiphyseal dysplasia
- Heterozygous COL9A3 variants cause severe peripheral vitreoretinal degeneration and retinal detachment
- Hybrid total hip arthroplasty for multiple epiphyseal dysplasia
- Identification of cartilage oligomeric matrix protein (COMP) gene mutations in patients with pseudoachondroplasia and multiple epiphyseal dysplasia
- Identification of nine novel mutations in cartilage oligomeric matrix protein in patients with pseudoachondroplasia and multiple epiphyseal dysplasia
- Inverse association of general joint hypermobility with hand and knee osteoarthritis and serum cartilage oligomeric matrix protein levels
- Juvenile Dysplasia Epiphysealis Hemimelica with Multiple Ankle Free Body
- Long-term outcome in Desbuquois dysplasia: a follow-up in four adult patients
- Loss of kinase activity in a patient with Wolcott-Rallison syndrome caused by a novel mutation in the EIF2AK3 gene
- Loss of matrilin 1 does not exacerbate the skeletal phenotype in a mouse model of multiple epiphyseal dysplasia caused by a Matn3 V194D mutation
- Low revision rate after total hip arthroplasty in patients with pediatric hip diseases
- Lowry-Wood syndrome: further evidence of association with RNU4ATAC, and correlation between genotype and phenotype
- MED and PSACH COMP mutations affect chondrogenesis in chicken limb bud micromass cultures
- Model systems for studying skeletal dysplasias caused by TSP-5/COMP mutations
- Morphologic observations in a case of lethal variant (type I) metatropic dysplasia with atypical features: morphology of lethal metatropic dysplasia
- Mucopolysaccharidosis IVA (Morquio A syndrome) and VI (Maroteaux-Lamy syndrome): under-recognized and challenging to diagnose
- Mucopolysaccharidosis VII in a cat
- Multiple epiphyseal dysplasia
- Multiple epiphyseal dysplasia mimicking osteoarthritis due to acetabular dysplasia: A report of a familial case with a COMP mutation
- Multiple epiphyseal dysplasia tip 5: Case report a rare skeletal dysplasıa presenting with repetitive joint pain in children
- Musculoskeletal abnormalities in velocardiofacial syndrome
- Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia
- Mutations targeting intermodular interfaces or calcium binding destabilize the thrombospondin-2 signature domain
- New Insights on the Genetic Basis Underlying SHILCA Syndrome: Characterization of the <em>NMNAT1</em> Pathological Alterations Due to Compound Heterozygous Mutations and Identification of a Novel Alternative Isoform
- Novel and recurrent mutations clustered in the von Willebrand factor A domain of MATN3 in multiple epiphyseal dysplasia
- Outcomes of complex primary total knee arthroplasties performed with custom cutting guides
- Paternal isodisomy of chromosome 5 in a patient with recessive multiple epiphyseal dysplasia
- Patients with musculoskeletal dysplasia undergoing total joint arthroplasty are at increased risk of surgical site Infection
- Periacetabular Osteotomy Improves Pain and Function in Patients With Lateral Center-edge Angle Between 18° and 25°, but Are These Hips Really Borderline Dysplastic?
- Perlecan is essential for cartilage and cephalic development
- Polyostotic fibrous dysplasia with epiphyseal involvement in long bones: a case report
- Prader-Willi Syndrome: clinical concerns for the orthopaedic surgeon
- Progress of molecular genetic research on pseudoachon-droplasia and multiple epiphyseal dysplasia
- Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations
- Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management
- Relative hypoaldosteronism in a patient with Wolcott-Rallison syndrome
- Results of surgical treatment of coxa vara in children: valgus osteotomy with angle blade plate fixation
- RNAi reduces expression and intracellular retention of mutant cartilage oligomeric matrix protein
- Single-Stage Corrective Osteotomies for Multiple Angular Deformities Around the Knee Joint with Patellar Instability in a Patient with Multiple Epiphyseal Dysplasia: A Case Report
- Skeletal abnormalities in mice lacking extracellular matrix proteins, thrombospondin-1, thrombospondin-3, thrombospondin-5, and type IX collagen
- Spectrum of intra-articular findings of the acute and subacute painful hip with multiple epiphyseal dysplasia/spondyloepiphyseal dysplasia
- Spondylocarpotarsal synostosis with epiphyseal dysplasia
- Spondyloepimetaphyseal dysplasia with joint laxity leptodactylic form: clinical course and phenotypic variations in four patients
- Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type: longitudinal observation of radiographic findings in a child heterozygous for a KIF22 mutation
- Sulfate in fetal development
- Surgical treatment of multiple epiphyseal dysplasia in the hip joints in childhood--short-term results
- The crystal structure of the signature domain of cartilage oligomeric matrix protein: implications for collagen, glycosaminoglycan and integrin binding
- The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome
- The Femoro-Epiphyseal Acetabular Roof (FEAR) Index: A New Measurement Associated With Instability in Borderline Hip Dysplasia?
- The orthopaedic aspects of multiple epiphyseal dysplasia
- Total hip replacement in patients with multiple epiphyseal dysplasia with a mean follow-up of 15 years and survival analysis
- Transcription influences the types of deletion and expansion products in an orientation-dependent manner from GAC*GTC repeats
- Treatment outcomes of hips in patients with epiphyseal dysplasia
- Trevor's Disease: A Literature Review regarding Classification, Treatment, and Prognosis apropos of a Case
- Trinucleotide expansion mutations in the cartilage oligomeric matrix protein (COMP) gene
- Two novel mutations in the EIF2AK3 gene in children with Wolcott-Rallison syndrome
- Two novel mutations of <em>COMP</em> in Japanese boys with pseudoachondroplasia
- Wolcott-Rallison syndrome with 3-hydroxydicarboxylic aciduria and lethal outcome
- XBP1 signalling is essential for alleviating mutant protein aggregation in ER-stress related skeletal disease