Leena Bruckner‐Tuderman
- Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility
2020/02/04 by C. Has, Cristina Has, J.W. Bauer +41 · 796 citations
Biochemistry, Genetics and Molecular Biology · Chemistry · Medicine · #Autoimmune Bullous Skin Diseases #Chemistry #Dermatology #Epidermolysis bullosa #Fragility #Genetic and rare skin diseases. #Medicine #Skin and Cellular Biology Research
- Epidermolysis bullosa
2020/09/24 by Ajoy Bardhan, Leena Bruckner‐Tuderman, Leena Bruckner-Tuderman +15 · 391 citations
Biochemistry, Genetics and Molecular Biology · Medicine · #Autoimmune Bullous Skin Diseases #Biology #Dermatology #Disease #Epidermolysis bullosa #Epidermolysis bullosa simplex #Gene #Genetic heterogeneity #Genetics #Medicine #Mucocutaneous zone #Nail Diseases and Treatments #Pathology #Phenotype #Skin and Cellular Biology Research
- The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB
2008/04/19 by Jo-David Fine, Jo‐David Fine, Robin A.J. Eady +21 · 730 citations
Biochemistry, Genetics and Molecular Biology · Medicine · #Classification scheme #Computer science #Consensus conference #Data science #Dermatology #Disease #Epidermolysis bullosa #Flexibility (engineering) #Genetic and rare skin diseases. #Intensive care medicine #Medicine #Pathology #Skin and Cellular Biology Research #Sympathectomy and Hyperhidrosis Treatments
- High frequency of the 425AG splice-site mutation and novel mutations of the COL7A1 gene in central Europe: significance for future mutation detection strategies in dystrophic epidermolysis bullosa
2005/05/01 by M. Csikós, H. Szőcs, András Lászik +4 · 32 citations
Biochemistry, Genetics and Molecular Biology · Medicine · #Skin and Cellular Biology Research #Autoimmune Bullous Skin Diseases #Dermatological and Skeletal Disorders #Heteroduplex #Genetics #Mutation #Splice site mutation #Biology #Mutation testing #Epidermolysis bullosa #Gene #Exon #Molecular biology #Alternative splicing