184 results on '"Jonca, N."'
Search Results
2. New developments in the molecular treatment of ichthyosis: review of the literature
3. Patients with autosomal recessive congenital ichthyosis present a distinctive pattern of alopecia
4. 893 Development of a testing and diagnostics platform dedicated to rare genetic variants of uncertain significance (VUS) identified in patients with congenital ichthyosis
5. 759 Slowing down of skin aging by strengthening the cornified envelope with LCE6A biomimetic green peptide
6. A retrospective study on the liver toxicity of oral retinoids in Chanarin–Dorfman syndrome.
7. 308 A case report illustrating the problem of VUS identification in the genetic diagnosis of congenital ichthyosis
8. KLICK syndrome: recognizable phenotype and hot-spot POMP mutation
9. Novel mutation in NIPAL4 in a Romanian family with autosomal recessive congenital ichthyosis
10. 127 Sensitive skin protection by strengthening the skin barrier with a LCE6A biomimetic green peptide specific to the cornified envelope
11. 192 Establishment of a Collection of New, Reliable, and Reproducible 3-D Models of Congenital Ichthyoses for Basic and Clinical Applications
12. Acantholytic dyskeratotic epidermal naevus and striate palmoplantar keratoderma associated with DSG1 mutation: evidence for segmental type 2 mosaicism
13. Identification of the first nonsense CDSN mutation with expression of a truncated protein causing peeling skin syndrome type B
14. A novel mutation in CDSN causes peeling skin disease in a patient from Morocco
15. Ichtyose congénitale autosomique récessive due à une nouvelle mutation du gène CERS3 : présentation néonatale sévère
16. Alterations in the desquamation-related proteolytic cleavage of corneodesmosin and other corneodesmosomal proteins in psoriatic lesional epidermis
17. Biochemical and immunofluorescence analysis of the constitutively expressed HSP27 stress protein in monkey CV-1 cells
18. Reduced and Abnormal Proteolysis of Corneodesmosomal proteins in Psoriatic Skin
19. Identification of 3500 Genes Expressed by the Human Granular Keratinocyte
20. Functional Analysis of CDSN Haplotypes Associated with Familial Psoriasis
21. Functional Study of the Dermokine σ, an Intracellular Isoform Encoded by an Epidermal Gene with a Complex Splicing
22. Management of congenital ichthyoses : European guidelines of care, part two
23. Management of congenital ichthyoses : European guidelines of care, part one
24. Deux nouveaux cas (Two new cases)
25. Ichtyose congénitale autosomique récessive associées à des mutations du gène SDR9C7
26. Syndrome de Dorfman-Chanarin : caractéristiques phénotypiques et génotypiques d’une série de 21 patients
27. 297 Identification of mutations in SDR9C7 in three patients with autosomal recessive congenital ichthyosis
28. Congenital ichthyoses: European guidelines of care, part two
29. 先天性鱼鳞病 : 欧洲护理指南, 第二部分
30. Identification of Mutations in SDR9C7 in Three Patients with Autosomal Recessive Congenital Ichthyosis
31. Le bébé collodion
32. Management of congenital ichthyoses: European guidelines of care, part two
33. Management of congenital ichthyoses: European guidelines of care, part one
34. Identification et caractérisation de deux nouvelles mutations du gène SPINK5 associées à une forme atténuée du syndrome de Netherton
35. Le syndrome « ichtyose-prématurité » : deux nouveaux cas
36. KLICK syndrome: an unusual phenotype
37. Le bébé collodion (The collodion baby)
38. L’ichtyose de type « syndrome ichtyose-prématurité » : un diagnostic méconnu malgré une clinique stéréotypée
39. 196 New keys for the pathophysiology of peeling skin disease revealed by transcriptomic analyses of two Corneodesmosin-deficient mouse models
40. Extensive Post-zygotic Mosaicism of KRT1 or KRT10 Mutation Mimicking Classical Epidermolytic Ichthyosis
41. Management of congenital ichthyoses: European guidelines of care, part two.
42. Management of congenital ichthyoses: European guidelines of care, part one.
43. Self healing collodion baby
44. Ichtyose épidermolytique : penser à une mosaïque
45. 113 PNPLA1 defects in patients with ichthyosis and KO mice unveil PNPLA1 irreplaceable function in epidermal omega–acylceramide synthesis and skin permeability barrier
46. KLICK syndrome: recognizable phenotype and hot‐spot POMP mutation
47. Erratum
48. Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis
49. Novel mutation inNIPAL4in a Romanian family with autosomal recessive congenital ichthyosis
50. Ichtyose en confettis : caractérisation clinique et moléculaire de 3 nouveaux patients
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