The international dystrophic epidermolysis bullosa patient registry: An online database of dystrophic epidermolysis bullosa patients and their COL7A1 mutations

New Glycine Substitution Mutations in Type VII Collagen Underlying Epidermolysis Bullosa Pruriginosa but the Phenotype is not Explained by a Common Polymorphism in the Matrix Metalloproteinase-1 Gene Promoter

(2014) N Almaani et al.   ACTA DERMATO-VENEREOLOGICA

XGAP: a uniform and extensible data model and software platform for genotype and phenotype experiments

(2012) Morris A Swertz et al.   GENOME BIOLOGY

Identical Glycine Substitution Mutations in Type VII Collagen May Underlie Both Dominant and Recessive Forms of Dystrophic Epidermolysis Bullosa

(2011) JA McGrath et al.   ACTA DERMATO-VENEREOLOGICA

The MOLGENIS toolkit: rapid prototyping of biosoftware at the push of a button

(2011) Morris A Swertz et al.   BMC BIOINFORMATICS

Analysis of the COL7A1 gene in Czech patients with dystrophic epidermolysis bullosa reveals novel and recurrent mutations

(2010) Barbora Jeřábková et al.   JOURNAL OF DERMATOLOGICAL SCIENCE

Mutational survey of recessive dystrophic epidermolysis bullosa in Tunisian families unveils a spectrum of private, ethnic specific and world wide recurrent mutations

(2010) Houyem Ouragini et al.   JOURNAL OF DERMATOLOGICAL SCIENCE

Inversa Dystrophic Epidermolysis Bullosa Is Caused by Missense Mutations at Specific Positions of the Collagenic Domain of Collagen Type VII

(2010) Christine Chiaverini et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

The inversa type of recessive dystrophic epidermolysis bullosa is caused by specific arginine and glycine substitutions in type VII collagen

(2010) P. C. van den Akker et al.   JOURNAL OF MEDICAL GENETICS

Forty-two novelCOL7A1mutations and the role of a frequent single nucleotide polymorphism in theMMP1promoter in modulation of disease severity in a large European dystrophic epidermolysis bullosa cohort

(2009) J.S. Kern et al.   BRITISH JOURNAL OF DERMATOLOGY

Long-term follow-up of patients with recessive dystrophic epidermolysis bullosa in the Netherlands: Expansion of the mutation database and unusual phenotype–genotype correlations

(2009) Peter C. van den Akker et al.   JOURNAL OF DERMATOLOGICAL SCIENCE

Dystrophic epidermolysis bullosa pruriginosa is not associated with frequentFLGgene mutations

(2008) H. Schumann et al.   BRITISH JOURNAL OF DERMATOLOGY

The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB

(2008) Jo-David Fine et al.   JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY

Epidermolysis bullosa and the risk of life-threatening cancers: The National EB Registry experience, 1986-2006

(2008) Jo-David Fine et al.   JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY

A frequent functional SNP in theMMP1promoter is associated with higher disease severity in recessive dystrophic epidermolysis bullosa

(2007) Matthias Titeux et al.   HUMAN MUTATION