Disease: Epiphyseal dysplasia- multiple- 3
- 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 Modified 4-in-1 Stanisavljevic Procedure for Treating Obligatory or Congenital Patellar Dislocations in Children: A Surgical Technique
- A mutation in cartilage oligomeric matrix protein (COMP) causes early-onset osteoarthritis in a large kindred study
- A novel COMP mutation in a Chinese family with multiple epiphyseal dysplasia
- A novel COMP mutation in an Inuit patient with pseudoachondroplasia and severe short stature
- A novel mutation of cartilage oligomeric matrix protein gene underlies multiple epiphyseal dysplasia
- A novel p.A191D matrilin-3 variant in a Vietnamese family with multiple epiphyseal dysplasia: a case report
- 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
- Advances in bone dysplasias
- Age Dependent Progression of Multiple Epiphyseal Dysplasia and Pseudoachondroplasia Due to Heterozygous Mutations in COMP Gene
- 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
- Analysis of the cartilage proteome from three different mouse models of genetic skeletal diseases reveals common and discrete disease signatures
- Anteromedial wedge reduction osteotomy for the treatment of femoral head deformities
- Armet/Manf and Creld2 are components of a specialized ER stress response provoked by inappropriate formation of disulphide bonds: implications for genetic skeletal diseases
- Articulated Hip Distraction for Impingement of the Deformed Femoral Head in a Patient with Multiple Epiphyseal Dysplasia: A Case Report
- Assessment of skeletal age in multiple epiphyseal dysplasia
- Autosomal recessive Stickler syndrome due to a loss of function mutation in the COL9A3 gene
- Bilateral double-layered patella in a patient with advanced knee osteoarthritis
- Case Report of Osteopoikilosis: Sparse Cause of Bone Pain and Mimicker of Metastasis on Radiographs
- Case report: Autosomal recessive type 3 Stickler syndrome caused by compound heterozygous mutations in <em>COL11A2</em>
- Case report: Autosomal recessive type 3 Stickler syndrome caused by compound heterozygous mutations in COL11A2
- Chop (Ddit3) is essential for D469del-COMP retention and cell death in chondrocytes in an inducible transgenic mouse model of pseudoachondroplasia
- 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 Experience from a Single Tertiary Care Center: Neonatal Diabetes Mellitus with Multiple Epiphyseal Dysplasia-Wolcott-Rallison's Syndrome
- Clinical, Biochemical, Radiological, Genetic and Therapeutic Analysis of Patients with COMP Gene Variants
- Comparative proteomic analysis of normal and collagen IX null mouse cartilage reveals altered extracellular matrix composition and novel components of the collagen IX interactome
- 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
- Cystic fibrous dysplasia of the humerus
- Deformity correction with total knee arthroplasty for severe knee osteoarthritis accompanying extra-articular femoral deformity: the results are promising
- 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
- Dysplasia epiphysealis hemimelica: a histological comparative study with osteochondromas
- Dysplasia spondyloepiphysaria and patella dislocation: a case followed over 10 years
- Early Osteoarthritis and Double-Layered Patella in a Patient With Multiple Epiphyseal Dysplasia
- Early-onset diabetes mellitus and neurodevelopmental retardation: the first Greek case of Wolcott-Rallison syndrome
- Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia
- FGFR3 induces degradation of BMP type I receptor to regulate skeletal development
- 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
- 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
- Hybrid total hip arthroplasty for multiple epiphyseal dysplasia
- Identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia
- Increased classical endoplasmic reticulum stress is sufficient to reduce chondrocyte proliferation rate in the growth plate and decrease bone growth
- Joint Replacements in Individuals With Skeletal Dysplasias: One Institution's Experience and Response to Operative Complications
- Juvenile Dysplasia Epiphysealis Hemimelica with Multiple Ankle Free Body
- 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
- Matrilin-3 chondrodysplasia mutations cause attenuated chondrogenesis, premature hypertrophy and aberrant response to TGF-beta in chondroprogenitor cells
- Matrilin-3 chondrodysplasia mutations cause attenuated chondrogenesis, premature hypertrophy and aberrant response to TGF-β in chondroprogenitor cells
- Mesencephalic astrocyte-derived neurotropic factor is an important factor in chondrocyte ER homeostasis
- Mild myopathy is associated with COMP but not MATN3 mutations in mouse models of genetic skeletal diseases
- Mucopolysaccharidosis IVA (Morquio A syndrome) and VI (Maroteaux-Lamy syndrome): under-recognized and challenging to diagnose
- Multiple epiphyseal dysplasia
- Multiple epiphyseal dysplasia and related disorders: Molecular genetics, disease mechanisms, and therapeutic avenues
- 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 dysplasia presenting with repetitive joint pain in children
- Multiple epiphyseal dysplasia tip 5: Case report a rare skeletal dysplasıa presenting with repetitive joint pain in children
- Multiple Epiphyseal Dysplasia With Knee Joint Locking Symptoms Caused by Intra-articular Loose Bodies
- Multiple functions of the first EGF domain in matrilin-3: Secretion and endoplasmic reticulum stress
- Multiple occurrence of premature polyarticular osteoarthritis in an early medieval Bohemian cemetery (Prague, Czech Republic)
- New therapeutic targets in rare genetic skeletal diseases
- Novel COL9A3 mutation in a family diagnosed with multiple epiphyseal dysplasia: a case report
- Onychodystrophy with Multiple Epiphyseal Dysplasia: Literature Review
- 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
- Patients with musculoskeletal dysplasia undergoing total joint arthroplasty are at increased risk of surgical site Infection
- Pediatric Hip Disorders
- Periacetabular Osteotomy Improves Pain and Function in Patients With Lateral Center-edge Angle Between 18° and 25°, but Are These Hips Really Borderline Dysplastic?
- Prevalence and radiographic features of atlantoaxial dislocation in adult patients with Kashin-Beck disease
- Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution
- 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
- Severe neurologic manifestations from cervical spine instability in spondylo-megaepiphyseal-metaphyseal dysplasia
- 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
- 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-epi-metaphyseal dysplasia due to a homozygous missense mutation in the gene encoding Matrilin-3 (T120M)
- Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type: longitudinal observation of radiographic findings in a child heterozygous for a KIF22 mutation
- Sulfate in fetal development
- Sulphate in pregnancy
- THE 3rd W522X MUTATION IN EIF2AK3 GENE FROM TURKEY: A NEW PATIENT WITH WOLCOTT-RALLISON SYNDROME
- The favorable outcome of Bernese periacetabular osteotomy for the hip osteoarthritis in multiple epiphyseal dysplasia
- The Femoro-Epiphyseal Acetabular Roof (FEAR) Index: A New Measurement Associated With Instability in Borderline Hip Dysplasia?
- The matrilins: modulators of extracellular matrix assembly
- 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 Knee Arthroplasty in Patients Who Have Skeletal Dysplasia: A Center's Experience with a Mean 9 Year Follow-Up
- Total Knee Arthroplasty in Patients Who Have Skeletal Dysplasia: A Center's Experience With a Mean 9-Year Follow-Up
- Traumatic Fracture in a patient of Osteopoikilosis with Review of Literature
- Trends in Serum Cytokine Expression in Pediatric Skeletal Dysplasia
- Trevor's Disease: A Literature Review regarding Classification, Treatment, and Prognosis apropos of a Case
- Two novel mutations of <em>COMP</em> in Japanese boys with pseudoachondroplasia
- Wolcott-Rallison syndrome
- Wolcott-Rallison syndrome: a case series of three patients
- XBP1 signalling is essential for alleviating mutant protein aggregation in ER-stress related skeletal disease