382 results on '"Castiglia D"'
Search Results
2. Childhood epidermolysis bullosa acquisita during squaric acid dibutyl ester immunotherapy for alopecia areata
3. Genetic basis of dominant dystrophic epidermolysis bullosa in tunisian families and co-occurrence of dominant and recessive mutations
4. FERMT1 promoter mutations in patients with Kindler syndrome
5. A truncating mutation in the laminin-332α chain highlights the role of the LG45 proteolytic domain in regulating keratinocyte adhesion and migration
6. Immunofluorescence mapping, electron microscopy and genetics in the diagnosis and sub‐classification of inherited epidermolysis bullosa: a single‐centre retrospective comparative study of 87 cases with long‐term follow‐up
7. The Burden of Autosomal Recessive Congenital Ichthyoses on Patients and their Families: An Italian Multicentre Study
8. The evaluation of family impact of recessive dystrophic epidermolysis bullosa using the Italian version of the Family Dermatology Life Quality Index
9. Induction of senescence pathways in Kindler syndrome primary keratinocytes
10. A founder synonymous COL7A1 mutation in three Danish families with dominant dystrophic epidermolysis bullosa pruriginosa identifies exonic regulatory sequences required for exon 87 splicing
11. Two novel recessive mutations in KRT14 identified in a cohort of 21 Spanish families with epidermolysis bullosa simplex
12. Two families confirm Schöpf-Schulz-Passarge syndrome as a discrete entity within the WNT10A phenotypic spectrum
13. Development of bullous pemphigoid in junctional epidermolysis bullosa
14. The first COL7A1 mutation survey in a large Spanish dystrophic epidermolysis bullosa cohort: c.6527insC disclosed as an unusually recurrent mutation
15. Lethal autosomal recessive epidermolytic ichthyosis due to a novel donor splice-site mutation in KRT10
16. Quality of life in patients with epidermolysis bullosa
17. Trisomic rescue causing reduction to homozygosity for a novel ABCA12 mutation in harlequin ichthyosis
18. Branch point and donor splice-site COL7A1 mutations in mild recessive dystrophic epidermolysis bullosa
19. Novel CTSC mutations in a patient with Papillon–Lefèvre syndrome with recurrent pyoderma and minimal oral and palmoplantar involvement
20. A novel frameshift mutation in the KIND1 gene in Turkish siblings with Kindler syndrome
21. Herlitz junctional epidermolysis bullosa: laminin-5 mutational profile and carrier frequency in the Italian population
22. Delayed diagnosis of dyskeratosis congenita in a 40-year-old woman with multiple head and neck squamous cell carcinomas
23. Dystrophic epidermolysis bullosa pruriginosa in Italy: clinical and molecular characterization
24. Effects of triiodothyronine (T3) on differentiation of rat cortical neurons in primary cultures
25. Advances in genetic epidermolysis bullosa
26. Pretibial dystrophic epidermolysis bullosa: a recessively inherited COL7A1 splice site mutation affecting procollagen VII processing
27. Chloroplast-to-nucleus communication in response to drought in tomato
28. RDEB 中的 miR‐145‐5p 促纤维化活性
29. miR‐145‐5p profibrotic activity in RDEB
30. MicroRNA‐145‐5p regulates fibrotic features of recessive dystrophic epidermolysis bullosa skin fibroblasts
31. 092 Novel biallelic RIPK4 mutations cause ectodermal dysplasia with cutaneous syndactyly
32. 302 Molecular and mutational signatures of squamous cell carcinomas in epidermolysis bullosa
33. Palmoplantar Keratoderma and Woolly Hair Revealing Asymptomatic Arrhythmogenic Cardiomyopathy
34. Phenotypic Features of Epidermolysis Bullosa Simplex due to KLHL24 Mutations in 3 Italian Cases
35. Keratoderma-Deafness-Mucocutaneous Syndrome Associated with Phe142Leu in the GJB2 Gene
36. Radiation Engineering of Xyloglucan Hydrogels
37. On the Flow and Vortex Shedding Characteristics of an In-Line Tube Bundle in Steady and Pulsating Crossflow
38. Survival of Escherichia coli O157:H7 during the manufacture and ripening of Cacioricotta goat cheese
39. Hereditary palmoplantar keratodermas. Part II: syndromic palmoplantar keratodermas - Diagnostic algorithm and principles of therapy
40. Hereditary palmoplantar keratodermas. Part I. Non-syndromic palmoplantar keratodermas: classification, clinical and genetic features
41. Lack of K140 immunoreactivity in junctional epidermolysis bullosa skin and keratinocytes associates with misfolded laminin epidermal growth factor-like motif 2 of the β3 short arm
42. Epidermolysis Bullosa (EB) Acquisita in an Adult Patient with Previously Unrecognized Mild Dystrophic EB and Biallelic COL7A1 Mutations
43. Ichthyosis Prematurity Syndrome due to a Novel SLC27A4 Homozygous Mutation in an Italian Patient
44. A Postzygotic ATP2A2 Novel Mutation Identified by Next-generation Sequencing in Mosaic Darier Disease
45. Radiation engineering of xyloglucan hydrogels
46. Production of sweet protein-based sweeteners in transgenic tobacco chloroplasts
47. Autosomal recessive epidermolysis bullosa simplex due to KRT14 mutation: two large Palestinian families and literature review
48. 180 Decorin increases survival and ameliorates disease phenotype of Col7a1 hypomorphic mice
49. 582 A study of non-melanoma skin cancer in a series of well-characterized patients with Kindler Syndrome (KS)
50. 213 Epidermolysis bullosa acquisita in a patient with biallelic COL7A1 mutations
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