Works matching DE "MULTIPLE epiphyseal dysplasia"
Results: 178
A review of skeletal dysplasia research in India.
- Published in:
- Journal of Postgraduate Medicine, 2018, v. 64, n. 2, p. 98, doi. 10.4103/jpgm.JPGM_527_17
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- Publication type:
- Article
Unusual presentation of chondroblastoma mimicking Trevor's disease.
- Published in:
- 2017
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- Publication type:
- Letter to the Editor
Clinical, Biochemical, Radiological, Genetic and Therapeutic Analysis of Patients with COMP Gene Variants.
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- Calcified Tissue International, 2022, v. 110, n. 3, p. 313, doi. 10.1007/s00223-021-00920-6
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- Publication type:
- Article
A comparative study of clinical effect of total knee arthroplasty in the treatment of primary osteoarthritis and osteoarthritis of Kashin-Beck disease.
- Published in:
- 2020
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- Publication type:
- journal article
Shoulder arthroplasty in patients with osteo-chondrodysplasias.
- Published in:
- 2017
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- Publication type:
- journal article
A possible association of idiopathic osteosclerosis with excessive occlusal forces.
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- Quintessence International, 2014, v. 45, n. 3, p. 251, doi. 10.3290/j.qi.a31210
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- Publication type:
- Article
Spinal Cord Stimulation Improves Functional Outcomes in Children With Complex Regional Pain Syndrome: Case Presentation and Review of the Literature.
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- Pain Practice, 2020, v. 20, n. 6, p. 647, doi. 10.1111/papr.12882
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- Publication type:
- Article
An unusual cause of nephrotic syndrome: Answers.
- Published in:
- 2019
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- Publication type:
- Case Study
An unusual cause of nephrotic syndrome: Questions.
- Published in:
- 2019
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- Publication type:
- Case Study
Steroid-resistant nephrotic syndrome in a child with dysmorphic features: Answers.
- Published in:
- Pediatric Nephrology, 2014, v. 29, n. 5, p. 839, doi. 10.1007/s00467-014-2754-2
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- Publication type:
- Article
Abnormal bone remodelling activity of dental follicle cells from a cleidocranial dysplasia patient.
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- Oral Diseases, 2018, v. 24, n. 7, p. 1270, doi. 10.1111/odi.12900
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- Publication type:
- Article
Schmid Tip Metafizyel Kondrodisplazi.
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- Medical Journal of Bakirkoy, 2013, v. 9, n. 3, p. 134, doi. 10.5350/BTDMJB201309308
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- Publication type:
- Article
Multiple Osteochondritis Dissecans as Main Manifestation of Multiple Epiphyseal Dysplasia Caused by a Novel Cartilage Oligomeric Matrix Protein Pathogenic Variant: A Clinical Report.
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- Genes, 2024, v. 15, n. 11, p. 1490, doi. 10.3390/genes15111490
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- Publication type:
- Article
Clinical and Genetic Characteristics of Multiple Epiphyseal Dysplasia Type 4.
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- Genes, 2022, v. 13, n. 9, p. 1512, doi. 10.3390/genes13091512
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- Publication type:
- Article
SLC26A2 -Associated Diastrophic Dysplasia and rMED—Clinical Features in Affected Finnish Children and Review of the Literature.
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- Genes, 2021, v. 12, n. 5, p. 714, doi. 10.3390/genes12050714
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- Publication type:
- Article
Ultrasound and MRI comprehensive approach in prenatal diagnosis of fetal osteochondrodysplasias. Cases series.
- Published in:
- 2017
- By:
- Publication type:
- journal article
A novel mutation in the COL2A1 gene in a patient with Stickler syndrome type 1: a case report and review of the literature.
- Published in:
- 2017
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- Publication type:
- journal article
A rare, late presentation of pseudo-Madelung deformity.
- Published in:
- 2021
- By:
- Publication type:
- Case Study
Cantú syndrome as a rare cause of pericardial effusion in a young woman.
- Published in:
- 2019
- By:
- Publication type:
- Case Study
Curcumin Reduces Pathological Endoplasmic Reticulum Stress through Increasing Proteolysis of Mutant Matrilin-3.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 2, p. 1496, doi. 10.3390/ijms24021496
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- Publication type:
- Article
Matrilin-3 Chondrodysplasia Mutations Cause Attenuated Chondrogenesis, Premature Hypertrophy and Aberrant Response to TGF-β in Chondroprogenitor Cells.
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- International Journal of Molecular Sciences, 2014, v. 15, n. 8, p. 14555, doi. 10.3390/ijms150814555
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- Publication type:
- Article
A novel compound heterozygous mutation of the SMARCAL1 gene leading to mild Schimke immune-osseous dysplasia: a case report.
- Published in:
- 2017
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- Publication type:
- journal article
Recurrent c.G1636A (p.G546S) mutation of COL2A1 in a Chinese family with skeletal dysplasia and different metaphyseal changes: a case report.
- Published in:
- 2017
- By:
- Publication type:
- journal article
MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMD(MO).
- Published in:
- 2005
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- Publication type:
- journal article
Making Waves: A Child With Skeletal Dysplasia Treated Using Aquatic Therapy Principles.
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- Journal of Aquatic Physical Therapy, 2018, v. 26, n. 1, p. 36
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- Publication type:
- Article
A Rare Case of Monostotic Spinal Fibrous Dysplasia Mimicking Solitary Metastatic Lesion of Thyroid Carcinoma.
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- Malaysian Journal of Medical Sciences, 2016, v. 23, n. 1, p. 82
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- Publication type:
- Article
Chondrodysplasia Punctata with Severe Airway Stenosis.
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- Indian Journal of Critical Care Medicine, 2018, v. 22, n. 7, p. 552, doi. 10.4103/ijccm.IJCCM_105_18
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- Publication type:
- Article
Multiple epiphyseal dysplasia mimicking osteoarthritis due to acetabular dysplasia: A report of a familial case with a COMP mutation.
- Published in:
- 2017
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- Publication type:
- journal article
Osteochondral autograft for medial femoral condyle chondral lesions in a patient with multiple epiphyseal dysplasia: long-term result.
- Published in:
- Journal of Orthopaedic Science, 2012, v. 17, n. 4, p. 507, doi. 10.1007/s00776-011-0096-5
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- Publication type:
- Article
Accidental or linked: separated odontoid process fused to the enlarged anterior arch of the atlas associated with atlantoaxial subluxation in a Kashin-Beck disease patient.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Novel COL2A1 mutations causing spondyloepiphyseal dysplasia congenita in three unrelated Chinese families.
- Published in:
- 2016
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- Publication type:
- journal article
Progressive pseudorheumotoid dysplasia: A presentation of four cases with slow and rapid progression and effects of early rehabilitation program.
- Published in:
- Turkish Journal of Physical Medicine & Rehabilitation (2587-1250), 2019, v. 65, n. 3, p. 290, doi. 10.5606/tftrd.2019.2694
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- Publication type:
- Article
Osteoblastik Kemik Metastazlarını Taklit Eden Benign Hastalık: Osteopoikilozis.
- Published in:
- Journal of Physical Medicine & Rehabilitation Sciences, 2017, v. 20, n. 1, p. 44
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- Publication type:
- Article
Cleidocranial Dysplasia: A Rare Cause of Disproportionate Severe Short Stature.
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- Oman Medical Journal, 2012, v. 27, n. 5, p. 408, doi. 10.5001/omj.2012.99
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- Publication type:
- Article
Fibrous Dysplasia in the Calcaneus.
- Published in:
- 2017
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- Publication type:
- journal article
Determinants of impaired quality of life in patients with fibrous dysplasia.
- Published in:
- 2017
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- Publication type:
- journal article
Increased Wnt and Notch signaling: a clue to the renal disease in Schimke immuno-osseous dysplasia?
- Published in:
- 2016
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- Publication type:
- journal article
Progressive pseudorheumatoid dysplasia confirmed by whole-exon sequencing in a Chinese adult before corrective surgery.
- Published in:
- Journal of Orthopaedic Surgery & Research, 2019, v. 14, n. 1, p. N.PAG, doi. 10.1186/s13018-019-1061-9
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- Publication type:
- Article
The levels of urine CTX-II, C2C, and PYD in children patients with Kashin-Beck disease in Qinghai Province of China.
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- Journal of Orthopaedic Surgery & Research, 2019, v. 14, n. 1, p. N.PAG, doi. 10.1186/s13018-018-1057-x
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- Publication type:
- Article
A child with a novel ACAN missense variant mimicking a septic arthritis.
- Published in:
- 2019
- By:
- Publication type:
- Letter
A novel COMP mutation in a Chinese family with multiple epiphyseal dysplasia.
- Published in:
- BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-01040-y
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- Publication type:
- Article
Evaluating the variety of GNAS inactivation disorders and their clinical manifestations in 11 Chinese children.
- Published in:
- BMC Endocrine Disorders, 2022, v. 22, n. 1, p. 1, doi. 10.1186/s12902-022-00941-8
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- Publication type:
- Article
XBP1 signalling is essential for alleviating mutant protein aggregation in ER-stress related skeletal disease.
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- PLoS Genetics, 2019, v. 15, n. 7, p. 1, doi. 10.1371/journal.pgen.1008215
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- Publication type:
- Article
A case of Marshall's syndrome (postinflammatory elastolysis).
- Published in:
- 2017
- By:
- Publication type:
- Case Study
General Movements and Developmental Functioning in an Individual with Rhizomelic Chondrodysplasia Punctata within the First Months of the Life: A Case Report.
- Published in:
- Physical & Occupational Therapy in Pediatrics, 2021, v. 41, n. 3, p. 326, doi. 10.1080/01942638.2020.1841870
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- Publication type:
- Article
Factors associated with health-related quality of life (HRQOL) in adults with short stature skeletal dysplasias.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Schimke immunoosseous dysplasia: defining skeletal features.
- Published in:
- 2010
- By:
- Publication type:
- journal article
Pulmonary embolism--a rare complication of Schimke immunoosseous dysplasia.
- Published in:
- 2007
- By:
- Publication type:
- journal article
Brachytelephalangic chondrodysplasia punctata with severe spinal cord compression: report of four new cases.
- Published in:
- 2007
- By:
- Publication type:
- journal article
Follicular atrophoderma associated with skeletal defects, cataracts, and alopecia.
- Published in:
- 2001
- By:
- Publication type:
- journal article