Disease: Epiphyseal dysplasia- multiple- 1
- A case of congenital multiple epiphyseal dysplasia from the Late Migration Period graveyard in Drnholec (Czech Republic)
- A case of Keutel syndrome diagnosed in the neonatal period: associated with Binder phenotype
- A complex 6p25 rearrangement in a child with 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 mouse model offers novel insights into the myopathy and tendinopathy often associated with pseudoachondroplasia and multiple epiphyseal dysplasia
- A new family with epiphyseal chondrodysplasia type Miura
- 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 form of chondrocyte stress is triggered by a COMP mutation causing pseudoachondroplasia
- A novel p.A191D matrilin-3 variant in a Vietnamese family with multiple epiphyseal dysplasia: a case report
- A report of an Indian boy with a delayed diagnosis of pseudochondroplasia
- A secreted variant of cartilage oligomeric matrix protein carrying a chondrodysplasia-causing mutation (p.H587R) disrupts collagen fibrillogenesis
- Advances in bone dysplasias
- 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
- Anteromedial wedge reduction osteotomy for the treatment of femoral head deformities
- Autosomal recessive Stickler syndrome due to a loss of function mutation in the COL9A3 gene
- Axial correction of the lower limb deformities in a girl with anauxetic dysplasia
- Can Chiari Osteotomy Favorably Influence Long-term Hip Degradation in Multiple Epiphyseal Dysplasia and 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 diagnosis and WISP3 gene mutation analysis for progressive pseudorheumatoid dysplasia
- Clinical features and treatment of the hip in multiple epiphyseal dysplasia in childhood
- 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
- Diagnosis with Multiple Epiphyseal Dysplasia Using Whole-exome Sequencing in a Chinese Family
- 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
- Double-Layered Patella (DLP) in Multiple Epiphyseal Dysplasia (MED)
- Dual novel mutations in SLC26A2 in two siblings with multiple epiphyseal dysplasia 4 from a Chinese family: a case report
- Dyssegmental dysplasia with bone entrapment and visceral ramifications
- 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
- Familial isolated clubfoot is associated with recurrent chromosome 17q23.1q23.2 microduplications containing TBX4
- Fibrous Dysplasia in the Epiphysis of the Distal Femur
- 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
- Functional outcomes are preserved in adult acetabular dysplasia with radiographic evidence of lumbosacral spine anomalies: an investigation in hip-spine syndrome
- Functional Outcomes of Hip Arthroscopy for Pediatric and Adolescent Hip Disorders
- Genes uniquely expressed in human growth plate chondrocytes uncover a distinct regulatory network
- Genetic and molecular aspects of acromelic dysplasia
- Growth of the acetabular lateral cartilage in relation to congenital and developmental dysplasia of the hip. An histological study
- 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
- Heterozygous COL9A3 variants cause severe peripheral vitreoretinal degeneration and retinal detachment
- Hip ontogenesis: how evolution, genes, and load history shape hip morphotype and cartilotype
- Homozygosity for a missense variant in COMP gene associated with severe pseudoachondroplasia
- Hybrid total hip arthroplasty for multiple epiphyseal dysplasia
- 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
- Macrocephaly with multiple epiphyseal dysplasia: a second example of Al Gazali-Bakalinova syndrome?
- Matrilin-3 chondrodysplasia mutations cause attenuated chondrogenesis, premature hypertrophy and aberrant response to TGF-β in chondroprogenitor cells
- MED resulting from recessively inherited mutations in the gene encoding calcium-activated nucleotidase CANT1
- Mesencephalic astrocyte-derived neurotropic factor is an important factor in chondrocyte ER homeostasis
- Microscopic and ultrastructural features in Wolcott-Rallison syndrome, a permanent neonatal diabetes mellitus: about two autopsy cases
- Multiple epiphyseal dysplasia
- Multiple epiphyseal dysplasia and related disorders: Molecular genetics, disease mechanisms, and therapeutic avenues
- Multiple epiphyseal dysplasia in an Old Kingdom Egyptian skeleton: A case report
- 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
- Multiple Epiphyseal Dysplasia, Autosomal Dominant
- 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)
- Multiple SLC26A2 mutations occurring in a three-generational family
- Mutations in COMP cause familial carpal tunnel syndrome
- 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
- New therapeutic targets in rare genetic skeletal diseases
- 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
- 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
- Pediatric Orthopaedic Consults From Chiropractic Care
- Periacetabular Osteotomy Improves Pain and Function in Patients With Lateral Center-edge Angle Between 18° and 25°, but Are These Hips Really Borderline Dysplastic?
- Polyostotic fibrous dysplasia with epiphyseal involvement in long bones: a case report
- 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
- Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management
- Recent research on the growth plate: Advances in fibroblast growth factor signaling in growth plate development and disorders
- Relative hypoaldosteronism in a patient with Wolcott-Rallison syndrome
- Research status of correlation between type IX collagen gene and musculoskeletal diseases
- Results of surgical treatment of coxa vara in children: valgus osteotomy with angle blade plate fixation
- SLC26A2 disease spectrum in Sweden - high frequency of recessive multiple epiphyseal dysplasia (rMED)
- Sulfate in fetal development
- THE 3rd W522X MUTATION IN EIF2AK3 GENE FROM TURKEY: A NEW PATIENT WITH WOLCOTT-RALLISON SYNDROME
- 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 utility of mouse models to provide information regarding the pathomolecular mechanisms in human genetic skeletal diseases: The emerging role of endoplasmic reticulum stress (Review)
- Tissue-engineered cartilage implantation for the chondral lesion in a patient with multiple epiphyseal dysplasia
- Total hip replacement in patients with multiple epiphyseal dysplasia with a mean follow-up of 15 years and survival analysis
- 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 type 1 as an outcome of in vitro fertilization?
- Trichorhinophalangeal Syndrome
- Two novel EIF2AK3 mutations in a Chinese boy with Wolcott-Rallison syndrome
- Two novel mutations in the EIF2AK3 gene in children with Wolcott-Rallison syndrome
- 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