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177 results on '"Pseudoachondroplasia"'

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1. Pseudoachondroplasia: Phenotype and genotype in 11 Indian patients

2. Clinical, Biochemical, Radiological, Genetic and Therapeutic Analysis of Patients with COMP Gene Variants

3. Bilateral stemless shoulder hemiarthroplasty in a female patient suffering from pseudoachondroplasia: A case report

4. Identification of a Novel De Novo COMP Gene Variant as a Likely Cause of Pseudoachondroplasia

5. Windswept Deformity a Disease or a Symptom? A Systematic Review on the Aetiologies and Hypotheses of Simultaneous Genu Valgum and Varum in Children

6. Joint degeneration in a mouse model of pseudoachondroplasia: ER stress, inflammation and autophagy blockage

7. Management of progressive spine deformity in a child with pseudoachondroplasia

8. Age Dependent Progression of Multiple Epiphyseal Dysplasia and Pseudoachondroplasia Due to Heterozygous Mutations in COMP Gene

9. A Chinese Family with Pseudoachondroplasia Caused by COMP Gene Mutation

10. Mutant COMP shapes growth and development of skull and facial structures in mice and humans

11. Cartilage oligomeric matrix protein: COMPopathies and beyond

12. Skeletal dysplasias: an overview

13. Joint Degeneration in a Mouse Model of Pseudoachondroplasia: ER Stress, Inflammation, and Block of Autophagy

14. Novel therapeutic interventions for pseudoachondroplasia

15. Antisense Reduction of Mutant COMP Reduces Growth Plate Chondrocyte Pathology

16. Pseudoachondroplasia in a child: The role of anthropometric measurements and skeletal imaging in differential diagnosis

17. Novel mutations in the cartilage oligomeric matrix protein gene identified in two Taiwanese patients with pseudoachondroplasia and multiple epiphyseal dysplasia

18. Pseudoachondroplasia and Dominant Epiphyseal Dysplasia

19. Two novel mutations of COMP in Japanese boys with pseudoachondroplasia

20. Pseudoachondroplasia and painful sequelae

21. 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)

22. Mutant cartilage oligomeric matrix protein (COMP) compromises bone integrity, joint function and the balance between adipogenesis and osteogenesis

23. Pseudoachondroplasia/COMP — translating from the bench to the bedside

25. ‘Double trouble’: Diagnostic challenges in Duchenne muscular dystrophy in patients with an additional hereditary skeletal dysplasia

26. Pseudoachondroplasia and Multiple Epiphyseal Dysplasia: Molecular Genetics, Disease Mechanisms and Therapeutic Targets

27. Dynamic Lower Extremity Deformity in Children With Pseudoachondroplasia

29. Pseudoachondroplasia and the seven Ovitz siblings who survived Auschwitz

30. A novel form of chondrocyte stress is triggered by a COMP mutation causing pseudoachondroplasia

31. A secreted variant of cartilage oligomeric matrix protein carrying a chondrodysplasia-causing mutation (p.H587R) disrupts collagen fibrillogenesis

32. Type IX collagen gene mutations can result in multiple epiphyseal dysplasia that is associated with osteochondritis dissecans and a mild myopathy

33. An Inducible Cartilage Oligomeric Matrix Protein Mouse Model Recapitulates Human Pseudoachondroplasia Phenotype

34. The Role of Cartilage Oligomeric Matrix Protein (COMP) in Skeletal Disease

35. Multilayered patella: Similar radiographic findings in pseudoachondroplasia and recessive multiple epiphyseal dysplasia

36. Skeletal Abnormalities in Mice Lacking Extracellular Matrix Proteins, Thrombospondin-1, Thrombospondin-3, Thrombospondin-5, and Type IX Collagen

37. Progress of molecular genetic research on pseudoachon-droplasia and multiple epiphyseal dysplasia

38. Dolicho-odontoid in a boy with pseudoachondroplasia

39. Thrombospondins: from structure to therapeutics

40. Upper Cervical Spine Instability in Pseudoachondroplasia

41. Expression of PSACH-associated mutant COMP in tendon fibroblasts leads to increased apoptotic cell death irrespective of the secretory characteristics of mutant COMP

42. Cartilage Oligomeric Matrix Protein Associates with Granulin-Epithelin Precursor (GEP) and Potentiates GEP-stimulated Chondrocyte Proliferation

43. Identification of two novel mutations in the COMP gene in six families with pseudoachondroplasia

44. Retention of the Matricellular Protein SPARC in the Endoplasmic Reticulum of Chondrocytes from Patients with Pseudoachondroplasia

45. Expression of mutant cartilage oligomeric matrix protein in human chondrocytes induces the pseudoachondroplasia phenotype

46. Structure of the calcium-rich signature domain of human thrombospondin-2

47. COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia

48. COMP mutations, chondrocyte function and cartilage matrix

49. Epiphysäre Dysplasie - Krankheitsbild und differentialdiagnostische Betrachtungen

50. Mesomelic dwarfism in pseudoachondroplasia

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