Associated Papers
Genetic profiling of epidermolysis bullosa in a large Brazilian cohort.
Ota VK et al.
Clinical and Experimental Dermatology, 2025
Analysis of COL7A1 pathogenic variants in a large cohort of dystrophic epidermolysis bullosa patients from Argentina reveals a new genotype-phenotype correlation.
Natale MI et al.
American Journal of Medical Genetics. Part A, 2022
Genotype-phenotype correlations on epidermolysis bullosa with congenital absence of skin: A comprehensive review.
Mariath LM et al.
Clinical Genetics, 2021
Raloxifene and n-Acetylcysteine Ameliorate TGF-Signalling in Fibroblasts from Patients with Recessive Dominant Epidermolysis Bullosa.
Aguado T et al.
Cells, 2020
Epidermolysis bullosa with congenital absence of skin: Clinical and genetic characterization of a 23-case series.
Mariath LM et al.
Clinical Genetics, 2020
Fibroblast activation and abnormal extracellular matrix remodelling as common hallmarks in three cancer-prone genodermatoses.
Chacón-Solano E et al.
The British Journal of Dermatology, 2019
An overview of the genetic basis of epidermolysis bullosa in Brazil: discovery of novel and recurrent disease-causing variants.
Mariath LM et al.
Clinical Genetics, 2019
Novel and recurrent COL7A1 mutations in Chilean patients with dystrophic epidermolysis bullosa.
Rodríguez FA et al.
Journal of Dermatological Science, 2012
The first COL7A1 mutation survey in a large Spanish dystrophic epidermolysis bullosa cohort: c.6527insC disclosed as an unusually recurrent mutation.
Escámez MJ et al.
The British Journal of Dermatology, 2010
Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa.
Dang N et al.
Experimental Dermatology, 2008
Comparative mutation detection screening of the type VII collagen gene (COL7A1) using the protein truncation test, fluorescent chemical cleavage of mismatch, and conformation sensitive gel electrophoresis.
Whittock NV et al.
The Journal of Investigative Dermatology, 1999
Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation.
Hovnanian A et al.
American Journal of Human Genetics, 1997
Dystrophic epidermolysis bullosa.
ROCHA G
Anais Brasileiros De Dermatologia E Sifilografia, 1945
[A case of dystrophic bullous epidermolysis with severe hypertrichosis].
COFANO AR
Annali Italiani Di Dermatologia E Sifilografia, 0
[Macular (Mendes da Costa) type of dystrophic epidermolysis bullosa].
SPAGNOLI U et al.
Rassegna Di Dermatologia E Di Sifilografia, 0
A case of dystrophic epidermolysis bullosa with a rare COL7A1 variant.
Amoedo P et al.
Anais Brasileiros De Dermatologia, 0