Associated Papers
Genetic profiling of epidermolysis bullosa in a large Brazilian cohort.
Ota VK et al.
Clinical and Experimental Dermatology, 2025
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders.
Jurgens JA et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
38585811 (PubMed )
Supplement: media-4.xlsx › Sheet1
Ancestral patterns of recessive dystrophic epidermolysis bullosa mutations in Hispanic populations suggest sephardic ancestry.
Warshauer EM et al.
American Journal of Medical Genetics. Part A, 2021
Revertant mosaic fibroblasts in recessive dystrophic epidermolysis bullosa.
Twaroski K et al.
The British Journal of Dermatology, 2019
A novel FBXO28 frameshift mutation in a child with developmental delay, dysmorphic features, and intractable epilepsy: A second gene that may contribute to the 1q41-q42 deletion phenotype.
Balak C et al.
American Journal of Medical Genetics. Part A, 2018
Dystrophic Epidermolysis Bullosa: COL7A1 Mutation Landscape in a Multi-Ethnic Cohort of 152 Extended Families with High Degree of Customary Consanguineous Marriages.
Vahidnezhad H et al.
The Journal of Investigative Dermatology, 2017
A novel deletion and two recurrent substitutions on type VII collagen gene in seven Iranian patients with epidermolysis bullosa.
Hamidi AK et al.
Iranian Journal of Basic Medical Sciences, 2016
Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa.
Dang N et al.
Experimental Dermatology, 2008
Dominant dystrophic epidermolysis bullosa caused by a novel G2037R mutation and by a known G2028R mutation in the type VII collagen gene (COL7A1).
Iwata T et al.
The Journal of Dermatology, 2006
Genotype-phenotype correlation in italian patients with dystrophic epidermolysis bullosa.
Gardella R et al.
The Journal of Investigative Dermatology, 2002
A microinjected COL7A1-PAC vector restores synthesis of intact procollagen VII in a dystrophic epidermolysis bullosa keratinocyte cell line.
Mecklenbeck S et al.
Human Gene Therapy, 2002
Generalized dystrophic epidermolysis bullosa: identification of a novel, homozygous glycine substitution, G2031S, in exon 73 of COL7A1 in monozygous triplets.
Nordal EJ et al.
The British Journal of Dermatology, 2001
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