Associated Papers
Genetic profiling of epidermolysis bullosa in a large Brazilian cohort.
Ota VK et al.
Clinical and Experimental Dermatology, 2025
Narrowing the Differential: A Unique Case of Dystrophic Epidermolysis Bullosa.
Yacobucci L et al.
Case Reports in Pediatrics, 2025
Dominant dystrophic epidermolysis bullosa with congenital absence of skin and brachydactyly of the great toes.
Sawka E et al.
Pediatric Dermatology, 2021
Genotype-phenotype correlations on epidermolysis bullosa with congenital absence of skin: A comprehensive review.
Mariath LM et al.
Clinical Genetics, 2021
Calcinosis cutis in self-healing dominant dystrophic epidermolysis bullosa.
Takashima S et al.
The Journal of Dermatology, 2020
A Case of Dominant Dystrophic Epidermolysis Bullosa with a G2043R Mutation in the Type VII Collagen Gene.
Komatsu K et al.
Acta Dermatovenerologica Croatica : Adc, 2020
Bart's Syndrome with Novel Frameshift Mutations in the COL7A1 Gene.
Han YM et al.
Fetal and Pediatric Pathology, 2019
Genotype-Phenotype Correlations of Dystrophic Epidermolysis Bullosa in India: Experience from a Tertiary Care Centre.
Yenamandra VK et al.
Acta Dermato-venereologica, 2018
Bart's syndrome in a family affected three consecutive generations with mutation c.6007G>A in COL7A1.
Chen Z et al.
The Journal of Dermatology, 2018
Gene diagnosis and prenatal genetic diagnosis of a case of dystrophic epidermolysis bullosa family caused by gonadosomatic mosaicism for the COL7A1 mutation p.Gly2043Arg in the pregnant mother.
Shen J et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2016
Ten years of DNA diagnostics of epidermolysis bullosa in the Czech Republic.
Kopečková L et al.
The British Journal of Dermatology, 2016
Somatic mosaicism for the COL7A1 mutation p.Gly2034Arg in the unaffected mother of a patient with dystrophic epidermolysis bullosa pruriginosa.
van den Akker PC et al.
The British Journal of Dermatology, 2015
Aplasia cutis congenita with dystrophic epidermolysis bullosa: clinical and mutational study.
Chiaverini C et al.
The British Journal of Dermatology, 2014
Identical glycine substitution mutations in type VII collagen may underlie both dominant and recessive forms of dystrophic epidermolysis bullosa.
Almaani N et al.
Acta Dermato-venereologica, 2011
The inversa type of recessive dystrophic epidermolysis bullosa is caused by specific arginine and glycine substitutions in type VII collagen.
van den Akker PC et al.
Journal of Medical Genetics, 2011
Analysis of the COL7A1 gene in Czech patients with dystrophic epidermolysis bullosa reveals novel and recurrent mutations.
Jerábková B et al.
Journal of Dermatological Science, 2010
Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa.
Dang N et al.
Experimental Dermatology, 2008
Dilemmas in distinguishing between dominant and recessive forms of dystrophic epidermolysis bullosa.
Mallipeddi R et al.
The British Journal of Dermatology, 2003
Maternal germline mosaicism in dominant dystrophic epidermolysis bullosa.
Cserhalmi-Friedman PB et al.
The Journal of Investigative Dermatology, 2001
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
Allelic heterogeneity of dominant and recessive COL7A1 mutations underlying epidermolysis bullosa pruriginosa.
Mellerio JE et al.
The Journal of Investigative Dermatology, 1999
A recurrent glycine substitution mutation, G2043R, in the type VII collagen gene (COL7A1) in dominant dystrophic epidermolysis bullosa.
Mellerio JE et al.
The British Journal of Dermatology, 1998
Molecular basis of dystrophic epidermolysis bullosa: mutations in the type VII collagen gene (COL7A1).
Järvikallio A et al.
Human Mutation, 1997
Genetic basis of Bart's syndrome: a glycine substitution mutation in type VII collagen gene.
Christiano AM et al.
The Journal of Investigative Dermatology, 1996
[Dystrophic epidermolysis bullosa].
Gol'dshteĭn LM et al.
Vestnik Dermatologii I Venerologii, 1976