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73 results on '"Skin Diseases, Genetic physiopathology"'

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1. Arterial Tortuosity Syndrome: A Surprising Cause for Neck Pulsatility.

2. Dermoscopic features of primary cutaneous amyloidosis in skin of colour: A retrospective analysis of 48 patients from South India.

3. Plasminogen: an enigmatic zymogen.

4. Anterior Segment Surgeries Under Topical Fresh Frozen Plasma Treatment in Ligneous Conjunctivitis.

5. [Stiff skin syndrome in a pediatric patient: a therapeutic challenge. Clinical case].

6. Visual Diagnosis: A Case of Stretchy Skin and Vascular Abnormalities.

7. Morphological Analysis of Retinal Microvasculature to Improve Understanding of Retinal Hemorrhage Mechanics in Infants.

8. [Arterial tortuosity syndrome in a paediatric patient].

9. A Rare Case of Arterial Tortuosity Syndrome.

11. Tortuosity of the superficial femoral artery and its influence on blood flow patterns and risk of atherosclerosis.

12. Association of arterial stiffness with aortic calcification and tortuosity.

13. Activography reveals aberrant proteolysis in desquamating diseases of differing backgrounds.

14. Hemodynamic investigation of a patient-specific abdominal aortic aneurysm with iliac artery tortuosity.

15. Arterial tortuosity syndrome: 40 new families and literature review.

16. Annular Lesions: Diagnosis and Treatment.

17. Acquired and congenital forms of heterotopic ossification: new pathogenic insights and therapeutic opportunities.

18. Severe neonatal hypertension revealing arterial tortuosity syndrome.

19. Examining tissue composition, whole-bone morphology and mechanical behavior of Gorab Prx1 mice tibiae: A mouse model of premature aging.

20. [Acantholysis].

21. Risk factors associated with actinic prurigo: a case control study.

22. The prevalence and clinical manifestation of hereditary thrombophilia in Korean patients with unprovoked venous thromboembolisms.

23. What's new with common genetic skin disorders?

24. Actinic prurigo as a hypersensitivity reaction type 4.

25. Adult-onset actinic prurigo: report of 19 patients from Taiwan.

26. Arterial tortuosity syndrome.

27. Segmental stiff skin syndrome (SSS): A distinct clinical entity.

28. Moyamoya disease and artery tortuosity as rare phenotypes in a patient with an elastin mutation.

29. Correlation of serum IgE levels and clinical manifestations in patients with actinic prurigo.

30. GLUT10 deficiency leads to oxidative stress and non-canonical αvβ3 integrin-mediated TGFβ signalling associated with extracellular matrix disarray in arterial tortuosity syndrome skin fibroblasts.

31. GORAB Missense Mutations Disrupt RAB6 and ARF5 Binding and Golgi Targeting.

32. A 7-year-old with indurated skin and unilateral progressive joint immobility: A case of stiff skin syndrome.

33. The association between retinal microvascular changes, metabolic risk factors, and liver histology in pediatric patients with non-alcoholic fatty liver disease (NAFLD).

34. Actinic Prurigo.

35. Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders.

36. A 2-year-old girl with skin fragility.

37. Desmosomes: regulators of cellular signaling and adhesion in epidermal health and disease.

38. Computation of hemodynamics in tortuous left coronary artery: a morphological parametric study.

39. Artery buckling analysis using a four-fiber wall model.

40. An in vivo rat model of artery buckling for studying wall remodeling.

41. Tranexamic acid-induced ligneous conjunctivitis with renal failure showed reversible hypoplasminogenaemia.

42. Whole-exome sequencing identifies ADAM10 mutations as a cause of reticulate acropigmentation of Kitamura, a clinical entity distinct from Dowling-Degos disease.

43. [The coronary arterial tortuosity in workers of vibro-noisy professions and its role in the ischemic damage of the myocardium].

44. Impact of coronary tortuosity on coronary blood supply: a patient-specific study.

45. MCP-1 as an effector of IL-31 signaling in familial primary cutaneous amyloidosis.

46. Effects of idebenone on color vision in patients with leber hereditary optic neuropathy.

47. Unfolded protein response in keratinocytes: impact on normal and abnormal keratinization.

48. Palms and soles.

49. Impact of coronary tortuosity on coronary pressure: numerical simulation study.

50. Full-thickness human skin models for congenital ichthyosis and related keratinization disorders.

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