Associated Papers
Whole exome sequencing in a sample of Peruvian patients diagnosed with epidermolysis bullosa.
Zevallos-Morales A et al.
Dermatology Online Journal, 2022
Performance evaluation of differential splicing analysis methods and splicing analytics platform construction.
Li K et al.
Nucleic Acids Research, 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
Aberrant splicing as potential modifier of the phenotype of junctional epidermolysis bullosa.
Mittwollen R et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2020
Splicing of the cake can affect the severity of epidermolysis bullosa.
Murrell DF et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2020
The Position of Targeted Next-generation Sequencing in Epidermolysis Bullosa Diagnosis.
Has C et al.
Acta Dermato-venereologica, 2018
Revertant mosaicism in genodermatoses.
Lim YH et al.
Cellular and Molecular Life Sciences : Cmls, 2017
Inherited epidermolysis bullosa and squamous cell carcinoma: a systematic review of 117 cases.
Montaudié H et al.
Orphanet Journal of Rare Diseases, 2016
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
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
Successful therapeutic transplantation of revertant skin in epidermolysis bullosa.
Gostyński A et al.
Journal of the American Academy of Dermatology, 2014
Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.
Caminsky N et al.
F1000research, 2014
Revertant mosaicism in heritable skin diseases: mechanisms of natural gene therapy.
Pasmooij AM et al.
Discovery Medicine, 2012
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
Revertant mosaicism in skin: natural gene therapy.
Lai-Cheong JE et al.
Trends in Molecular Medicine, 2011
Revertant mosaicism due to a second-site mutation in COL7A1 in a patient with recessive dystrophic epidermolysis bullosa.
Pasmooij AM et al.
The Journal of Investigative Dermatology, 2010
Revertant mosaicism in junctional epidermolysis bullosa due to multiple correcting second-site mutations in LAMB3.
Pasmooij AM et al.
The Journal of Clinical Investigation, 2007
Laminin-5 mutational analysis in an Italian cohort of patients with junctional epidermolysis bullosa.
Posteraro P et al.
The Journal of Investigative Dermatology, 2004