Associated Papers
Genetic profiling of epidermolysis bullosa in a large Brazilian cohort.
Ota VK et al.
Clinical and Experimental Dermatology, 2025
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Novel LAMB3 variants in two Asian patients and an overview of LAMB3 variants associated with generalized intermediate junctional epidermolysis bullosa.
Tan EC et al.
The Australasian Journal of Dermatology, 2022
Hologene 5: A Phase II/III Clinical Trial of Combined Cell and Gene Therapy of Junctional Epidermolysis Bullosa.
De Rosa L et al.
Frontiers in Genetics, 2021
Amplicon-based next-generation sequencing: an effective approach for the molecular diagnosis of epidermolysis bullosa.
Tenedini E et al.
The British Journal of Dermatology, 2015
Risk of squamous cell carcinoma in junctional epidermolysis bullosa, non-Herlitz type: report of 7 cases and a review of the literature.
Yuen WY et al.
Journal of the American Academy of Dermatology, 2011
Herlitz junctional epidermolysis bullosa: laminin-5 mutational profile and carrier frequency in the Italian population.
Castori M et al.
The British Journal of Dermatology, 2008
Biological function of laminin-5 and pathogenic impact of its deficiency.
Schneider H et al.
European Journal of Cell Biology, 2007
Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants.
Varki R et al.
Journal of Medical Genetics, 2006
Novel and recurrent mutations in the laminin-5 genes causing lethal junctional epidermolysis bullosa: molecular basis and clinical course of Herlitz disease.
Mühle C et al.
Human Genetics, 2005
Laminin-5 mutational analysis in an Italian cohort of patients with junctional epidermolysis bullosa.
Posteraro P et al.
The Journal of Investigative Dermatology, 2004
Increased risk of squamous cell carcinoma in junctional epidermolysis bullosa.
Mallipeddi R et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2004
Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs. non-Herlitz phenotypes.
Nakano A et al.
Human Genetics, 2002
Moderation of phenotypic severity in dystrophic and junctional forms of epidermolysis bullosa through in-frame skipping of exons containing non-sense or frameshift mutations.
McGrath JA et al.
The Journal of Investigative Dermatology, 1999
E210K mutation in the gene encoding the beta3 chain of laminin-5 (LAMB3) is predictive of a phenotype of generalized atrophic benign epidermolysis bullosa.
Mellerio JE et al.
The British Journal of Dermatology, 1998
Predominance of the recurrent mutation R635X in the LAMB3 gene in European patients with Herlitz junctional epidermolysis bullosa has implications for mutation detection strategy.
Pulkkinen L et al.
The Journal of Investigative Dermatology, 1997
Mutational hotspots in the LAMB3 gene in the lethal (Herlitz) type of junctional epidermolysis bullosa.
Kivirikko S et al.
Human Molecular Genetics, 1996
Congenital cerebellar malignant rhabdoid tumor in an infant with junctional epidermolysis bullosa.
Krous HF et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 0