Disease: Epiphyseal dysplasia- multiple- 4
- A case of congenital multiple epiphyseal dysplasia from the Late Migration Period graveyard in Drnholec (Czech Republic)
- A child with painless left wrist swelling
- A compound heterozygote of novel and recurrent DTDST mutations results in a novel intermediate phenotype of Desbuquois dysplasia, diastrophic dysplasia, and recessive form of multiple epiphyseal dysplasia
- A de novo frameshift FGFR1 mutation extending the protein in an individual with multiple epiphyseal dysplasia and hypogonadotropic hypogonadism without anosmia
- A newly described hereditary cartilage debonding syndrome
- Ablation of collagen IX and COMP disrupts epiphyseal cartilage architecture
- Acroscyphodysplasia as a phenotypic variation of pseudohypoparathyroidism and acrodysostosis type 2
- An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs
- An Infant With Neonatal Diabetes and Double Outlet Right Ventricle - Wolcott- Rallison syndrome
- An unfolded protein response is the initial cellular response to the expression of mutant matrilin-3 in a mouse model of multiple epiphyseal dysplasia
- Anteromedial wedge reduction osteotomy for the treatment of femoral head deformities
- Articulated Hip Distraction for Impingement of the Deformed Femoral Head in a Patient with Multiple Epiphyseal Dysplasia: A Case Report
- Beaulieu-Boycott-Innes syndrome: an intellectual disability syndrome with characteristic facies
- Bilateral dysplasia epiphysealis hemimelica of the talus associated with a lower leg intramuscular cartilaginous mass
- Bilateral Second Carpal Row Duplication Associated with Multiple Epiphyseal Dysplasia
- Cartilage oligomeric matrix protein is overexpressed by scleroderma dermal fibroblasts
- Chondrocyte cell death and intracellular distribution of COMP and type IX collagen in the pseudoachondroplasia growth plate
- Clinical and genetic characteristics of 9 rare cases with coexistence of dual genetic diagnoses
- Clinical and Genetic Characteristics of Multiple Epiphyseal Dysplasia Type 4
- 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, radiographic, and pathologic abnormalities in dogs with multiple epiphyseal dysplasia: 19 cases (1991-2005)
- COMP mutations, chondrocyte function and cartilage matrix
- Comparative proteomic analysis of normal and collagen IX null mouse cartilage reveals altered extracellular matrix composition and novel components of the collagen IX interactome
- Coxa vara in chondrodysplasia: prognosis study of 35 hips in 19 children
- Disruption of extracellular matrix structure may cause pseudoachondroplasia phenotypes in the absence of impaired cartilage oligomeric matrix protein secretion
- Does Flexion Varus Osteotomy Improve Radiographic Findings Compared With Patients Treated in a Brace for Late-onset Legg-Calvé-Perthes Disease?
- Double non-contiguous fractures in a patient with spondylo-epiphyseal dysplasia with spinal ankylosis treated with open and percutaneous spinal fixation technique: a case report
- Dual novel mutations in SLC26A2 in two siblings with multiple epiphyseal dysplasia 4 from a Chinese family: a case report
- Dysplasia epiphysealis hemimelica (Trevor disease): a rare developmental disorder of bone mimicking osteochondroma of long bones
- Dysplasia epiphysealis hemimelica of the tibial tubercle
- Early-onset diabetes mellitus and neurodevelopmental retardation: the first Greek case of Wolcott-Rallison syndrome
- Epiphyseal dysplasia and other skeletal anomalies in a patient with the 6p25 microdeletion syndrome
- Epiphyseal dysplasia--symptoms and differential diagnostic aspects
- Exome sequencing reveals a novel COL2A1 mutation implicated in multiple epiphyseal dysplasia
- 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 mutant cartilage oligomeric matrix protein in human chondrocytes induces the pseudoachondroplasia phenotype
- Familial multiple epiphyseal dysplasia due to a matrilin-3 mutation: further delineation of the phenotype including 40 years follow-up
- Forearm lengthening by distraction osteogenesis: A report on 5 limbs in 3 cases
- Fourteen-year follow-up of a child with acroscyphodysplasia with emphasis on the need for multidisciplinary management: a case report
- Guided Growth Improves Coxa Valga and Hip Subluxation in Children With Hereditary Multiple Exostoses
- Guided Growth of the Proximal Femur for the Management of Hip Dysplasia in Children With Cerebral Palsy
- 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
- In vitro proteoglycan sulfation derived from sulfhydryl compounds in sulfate transporter chondrodysplasias
- Inhibition of ALK5 signaling induces physeal dysplasia in rats
- Intrafamilial phenotypic diversity in multiple epiphyseal dysplasia associated with a COL9A2 mutation (EDM2)
- Joint Replacements in Individuals With Skeletal Dysplasias: One Institution's Experience and Response to Operative Complications
- Long-term outcome in Desbuquois dysplasia: a follow-up in four adult patients
- Low revision rate after total hip arthroplasty in patients with pediatric hip diseases
- Macrocephaly with multiple epiphyseal dysplasia: a second example of Al Gazali-Bakalinova syndrome?
- Matrilin-3 is dispensable for mouse skeletal growth and development
- MED and PSACH COMP mutations affect chondrogenesis in chicken limb bud micromass cultures
- Metaphyseal dysplasia of Braun-Tinschert type: report of a Japanese girl
- Modular cementless total hip arthroplasty for multiple epiphyseal dysplasia
- Modyfied wedge osteotomy for osteoarthritis of elbow secondary to osteochondritis dissecans in adolecent with multiple epiphyseal dysplasia. A case report
- Multiple epiphyseal dysplasia in children: beware of overtreatment!
- Multiple epiphyseal dysplasia mimicking osteoarthritis due to acetabular dysplasia: A report of a familial case with a COMP mutation
- Multiple joint dislocations: an additional skeletal finding in Lowry-Wood syndrome?
- Multiple occurrence of premature polyarticular osteoarthritis in an early medieval Bohemian cemetery (Prague, Czech Republic)
- New therapeutic targets in rare genetic skeletal diseases
- Novel mutations in the cartilage oligomeric matrix protein gene identified in two Taiwanese patients with pseudoachondroplasia and multiple epiphyseal dysplasia
- Novel mutations of the cartilage oligomeric matrix protein (COMP) gene in two Japanese patients with pseudoachondroplasia
- Osteochondral autograft for medial femoral condyle chondral lesions in a patient with multiple epiphyseal dysplasia: long-term result
- Outcomes of complex primary total knee arthroplasties performed with custom cutting guides
- Paleopathological Study of Dwarfism-Related Skeletal Dysplasia in a Late Joseon Dynasty (South Korean) Population
- Pallister-Hall syndrome: unreported skeletal features of a GLI3 mutation
- Paternal isodisomy of chromosome 5 in a patient with recessive multiple epiphyseal dysplasia
- Pathogenetics of the human SLC26 transporters
- Pathogenic gene screening in 91 Chinese patients with short stature of unknown etiology with a targeted next-generation sequencing panel
- 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?
- Prader-Willi Syndrome: clinical concerns for the orthopaedic surgeon
- Pubertal development in patients with McCune-Albright syndrome or pseudohypoparathyroidism
- Recessive multiple epiphyseal dysplasia and Stargardt disease in two sisters
- Recurrent acute liver failure and mitochondriopathy in a case of Wolcott-Rallison syndrome
- 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
- Ribozyme-mediated reduction of wild-type and mutant cartilage oligomeric matrix protein (COMP) mRNA and protein
- RNAi reduces expression and intracellular retention of mutant cartilage oligomeric matrix protein
- SLC26A2 disease spectrum in Sweden - high frequency of recessive multiple epiphyseal dysplasia (rMED)
- SLC26A2/DTDST Spectrum: A Cohort of 12 Patients Associated with a Comprehensive Review of the Genotype-Phenotype Correlation
- Spondylo-epiphyseal dysplasia associated with craniosynostosis, cleft palate and mental retardation. A case report
- Sulfate in fetal development
- Sulphate in pregnancy
- Surgical treatment of multiple epiphyseal dysplasia in the hip joints in childhood--short-term results
- The Femoro-Epiphyseal Acetabular Roof (FEAR) Index: A New Measurement Associated With Instability in Borderline Hip Dysplasia?
- The murine COMP (cartilage oligomeric matrix protein) promoter contains a potent transcriptional repressor region
- The utility of mouse models to provide information regarding the pathomolecular mechanisms in human genetic skeletal diseases: The emerging role of endoplasmic reticulum stress (Review)
- 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
- Tricho-rhino-phalangeal syndrome in a 13-year-old girl with chronic renal failure and severe growth retardation
- Two novel EIF2AK3 mutations in a Chinese boy with Wolcott-Rallison syndrome
- Two novel mutations of <em>COMP</em> in Japanese boys with pseudoachondroplasia
- Type IX collagen gene mutations can result in multiple epiphyseal dysplasia that is associated with osteochondritis dissecans and a mild myopathy
- Wolcott-Rallison syndrome: a clinical and genetic study of three children, novel mutation in EIF2AK3 and a review of the literature