Associated Papers
Genetic profiling of epidermolysis bullosa in a large Brazilian cohort.
Ota VK et al.
Clinical and Experimental Dermatology, 2025
Clinical and allelic heterogeneity in dystrophic epidermolysis bullosa- lessons from an Indian cohort.
Gupta D et al.
Plos One, 2023
Whole exome sequencing in a sample of Peruvian patients diagnosed with epidermolysis bullosa.
Zevallos-Morales A et al.
Dermatology Online Journal, 2022
Dystrophic epidermolysis bullosa pruriginosa: a new case series of a rare phenotype unveils skewed Th2 immunity.
Darbord D et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2022
Epidermolysis Bullosa in Chinese Patients: Genetic Analysis and Mutation Landscape in 57 Pedigrees and Sporadic Cases.
Yu Y et al.
Acta Dermato-venereologica, 2021
Mouse models for dominant dystrophic epidermolysis bullosa carrying common human point mutations recapitulate the human disease.
Smith BRC et al.
Disease Models & Mechanisms, 2021
Neonatal epidermolysis bullosa: lessons to learn about genetic counseling.
Chong SC et al.
The Journal of Dermatological Treatment, 2021
Next-generation sequencing through multigene panel testing for the diagnosis of hereditary epidermolysis bullosa in Chinese population.
Chen F et al.
Clinical Genetics, 2020
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
Contribution of next generation sequencing in pediatric practice in Lebanon. A Study on 213 cases.
Nair P et al.
Molecular Genetics & Genomic Medicine, 2018
A comprehensive next-generation sequencing assay for the diagnosis of epidermolysis bullosa.
Lucky AW et al.
Pediatric Dermatology, 2018
Dystrophic epidermolysis bullosa pruriginosa successfully treated with immunosuppressants.
Takahashi T et al.
The Journal of Dermatology, 2016
Ten years of DNA diagnostics of epidermolysis bullosa in the Czech Republic.
Kopečková L et al.
The British Journal of Dermatology, 2016
The largest family of the Americas with dominant dystrophic epidermolysis bullosa pruriginosa: a 18-year longitudinal genotype-phenotype study.
Fortuna G et al.
Journal of Dermatological Science, 2013
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
Dystrophic epidermolysis bullosa pruriginosa of elderly onset.
Hayashi M et al.
The Journal of Dermatology, 2011
Long-term follow-up of patients with recessive dystrophic epidermolysis bullosa in the Netherlands: expansion of the mutation database and unusual phenotype-genotype correlations.
van den Akker PC et al.
Journal of Dermatological Science, 2009
Design and validation of a conformation-sensitive capillary electrophoresis system for mutation identification of the COL7A1 gene with automated peak comparison.
van den Akker PC et al.
Genetic Testing and Molecular Biomarkers, 2009
Dystrophic epidermolysis bullosa pruriginosa is not associated with frequent FLG gene mutations.
Schumann H et al.
The British Journal of Dermatology, 2008
Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa.
Dang N et al.
Experimental Dermatology, 2008
COL7A1 mutational analysis in Korean patients with dystrophic epidermolysis bullosa.
Oh SW et al.
The British Journal of Dermatology, 2007
Basic science of epidermolysis bullosa and diagnostic and molecular characterization: Proceedings of the IInd International Symposium on Epidermolysis Bullosa, Santiago, Chile, 2005.
Pfendner EG et al.
International Journal of Dermatology, 2007
Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes.
Varki R et al.
Journal of Medical Genetics, 2007
Mutation analyses of COL7A1 gene in three Taiwanese patients with severe recessive dystrophic epidermolysis bullosa.
Chao SC et al.
Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2007
Glycine substitution mutations by different amino acids at the same codon in COL7A1 cause different modes of dystrophic epidermolysis bullosa inheritance.
Sawamura D et al.
The British Journal of Dermatology, 2006
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
The G2028R glycine substitution mutation in COL7A1 leads to marked inter-familiar clinical heterogeneity in dominant dystrophic epidermolysis bullosa.
Nakamura H et al.
Journal of Dermatological Science, 2004
A novel missense mutation in the COL7A1 gene underlies epidermolysis bullosa pruriginosa.
Chuang GS et al.
Clinical and Experimental Dermatology, 2004
Dilemmas in distinguishing between dominant and recessive forms of dystrophic epidermolysis bullosa.
Mallipeddi R et al.
The British Journal of Dermatology, 2003
Glycine substitution mutations by different amino acids in the same codon of COL7A1 lead to heterogeneous clinical phenotypes of dominant dystrophic epidermolysis bullosa.
Murata T et al.
Archives of Dermatological Research, 2000
Splice site mutation in the type VII collagen gene (COL7A1) in a Taiwanese family with recessive dystrophic epidermolysis bullosa.
Lin GT et al.
Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2000
A de novo glycine substitution mutation in the collagenous domain of COL7A1 in dominant dystrophic epidermolysis bullosa.
Lee JY et al.
Archives of Dermatological Research, 2000
[Dystrophic epidermolysis bullosa].
Gol'dshteĭn LM et al.
Vestnik Dermatologii I Venerologii, 1976
Dystrophic epidermolysis bullosa with one dominant and one recessive mutation of the COL7A1 gene in a child with deafness.
Weinel S et al.
Pediatric Dermatology, 0
An incompletely penetrant novel mutation in COL7A1 causes epidermolysis bullosa pruriginosa and dominant dystrophic epidermolysis bullosa phenotypes in an extended kindred.
Yang CS et al.
Pediatric Dermatology, 0
New Onset Mitral Regurgitation Caused by Mitral Valve Prolapse in a Male Patient with Dominant Pretibial Dystrophic Epidermolysis Bullosa.
Uysal PI et al.
Indian Journal of Dermatology, 0