Associated Papers
Genetic profiling of epidermolysis bullosa in a large Brazilian cohort.
Ota VK et al.
Clinical and Experimental Dermatology, 2025
Localized variant of junctional epidermolysis bullosa with R795X mutation.
Bighetti S et al.
Dermatology Reports, 2025
Identification of deep intronic variants in junctional epidermolysis bullosa using genome sequencing and splicing assays.
Chen F et al.
Npj Genomic Medicine, 2025
Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta.
Hany U et al.
Journal of Medical Genetics, 2024
Molecular genetic basis of epidermolysis bullosa.
Kotalevskaya YY et al.
Vavilovskii Zhurnal Genetiki I Selektsii, 2023
A Genome-Wide Scan on Individual Typology Angle Found Variants at SLC24A2 Associated with Skin Color Variation in Chinese Populations.
Wang F et al.
The Journal of Investigative Dermatology, 2022
Read-Through for Nonsense Mutations in Type XVII Collagen‒Deficient Junctional Epidermolysis Bullosa.
Has C et al.
The Journal of Investigative Dermatology, 2022
Application of topical gentamicin-a new era in the treatment of genodermatosis.
Wang S et al.
World Journal of Pediatrics : Wjp, 2021
Genotypic and phenotypic analysis of 34 cases of inherited junctional epidermolysis bullosa caused by COL17A1 mutations.
Hérissé AL et al.
The British Journal of Dermatology, 2021
Whole Exome Sequencing Confirms Molecular Diagnostics of Three Pakhtun Families With Autosomal Recessive Epidermolysis Bullosa.
Fozia F et al.
Frontiers in Pediatrics, 2021
Genotypic and Phenotypic Analysis of 34 Cases of Inherited Junctional Epidermolysis Bullosa caused by COL17A1 Mutations.
Charlesworth A et al.
The British Journal of Dermatology, 2020
Gentamicin induces COL17A1 nonsense mutation readthrough in junctional epidermolysis bullosa.
Li Y et al.
The Journal of Dermatology, 2020
Junctional Epidermolysis Bullosa: Allelic Heterogeneity and Mutation Stratification for Precision Medicine.
Condrat I et al.
Frontiers in Medicine, 2018
Amelioration of junctional epidermolysis bullosa due to exon skipping.
Kowalewski C et al.
The British Journal of Dermatology, 2016
Molecular mechanisms of phenotypic variability in junctional epidermolysis bullosa.
Kiritsi D et al.
Journal of Medical Genetics, 2011
Localized and generalized forms of blistering in junctional epidermolysis bullosa due to COL17A1 mutations in the Netherlands.
Pasmooij AM et al.
The British Journal of Dermatology, 2007
Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants.
Varki R et al.
Journal of Medical Genetics, 2006
Laminin-5 mutational analysis in an Italian cohort of patients with junctional epidermolysis bullosa.
Posteraro P et al.
The Journal of Investigative Dermatology, 2004
Type XVII collagen gene mutations in junctional epidermolysis bullosa and prospects for gene therapy.
Bauer JW et al.
Clinical and Experimental Dermatology, 2003
A homozygous nonsense mutation in type XVII collagen gene (COL17A1) uncovers an alternatively spliced mRNA accounting for an unusually mild form of non-Herlitz junctional epidermolysis bullosa.
Ruzzi L et al.
The Journal of Investigative Dermatology, 2001