Présentation
Publications scientifiques
-
2026
ADAR1 loss-of-function variants altering RNA editing define a new interferon-..., Rockefeller University Press
-
2024
Novel variants impairing Sp1 transcription factor binding in the COL7A1 promo..., Eur J Hum Genet
-
2024
Splice modulation strategy applied to deep intronic variants in causing rece..., Proc Natl Acad Sci U S A
-
2024
Citrullinated Histone H3, a Marker for Neutrophil Extracellular Traps, Is Ass..., Cancers (Basel)
-
2023
Pachyonychia Congenita: A Research Agenda Leading to New Therapeutic Approaches., J Invest Dermatol
-
2021
Drug Repurposing Reveals mTOR Inhibition as a Promising Strategy for Epidermo..., J Invest Dermatol
-
2021
Dystrophic epidermolysis bullosa pruriginosa: a new case series of a rare phe..., J Eur Acad Dermatol Venereol
-
2021
Netherton syndrome subtypes share IL-17/IL-36 signature with distinct IFN-α a..., J Allergy Clin Immunol
-
2021
Diagnosis of Epidermolysis Bullosa Acquisita: Multicentre Comparison of Diffe..., Acta Derm Venereol
-
2020
Emerging drugs for the treatment of epidermolysis bullosa., Expert Opin Emerg Drugs
-
2019
EBGene trial: patient preselection outcomes for the European GENEGRAFT ex viv..., Br J Dermatol
-
2019
A TP63 Mutation Causes Prominent Alopecia with Mild Ectodermal Dysplasia., J Invest Dermatol
-
2018
Epidermolysis bullosa simplex-generalized severe type due to keratin 5 p.Glu4..., Pediatr Dermatol
-
2018
Correction to: Antisense-Mediated Splice Modulation to Reframe Transcripts., Methods Mol Biol
-
2018
Mutations in PERP Cause Dominant and Recessive Keratoderma., J Invest Dermatol
-
2018
Antisense-Mediated Splice Modulation to Reframe Transcripts., Methods Mol Biol
-
2018
APOBEC mutation drives early-onset squamous cell carcinomas in recessive dyst..., Sci Transl Med
-
2018
Intradermal Injection of Bone Marrow Mesenchymal Stromal Cells Corrects Reces..., J Invest Dermatol
-
2018
Ex Vivo COL7A1 Correction for Recessive Dystrophic Epidermolysis Bullosa Usin..., Mol Ther Nucleic Acids
-
2018
Diacerein orphan drug development for epidermolysis bullosa simplex: A phase ..., J Am Acad Dermatol
-
2017
The Molecular Revolution in Cutaneous Biology: Emerging Landscape in Genomic ..., J Invest Dermatol
-
2016
Selective Substrates and Inhibitors for Kallikrein-Related Peptidase 7 (KLK7)..., J Invest Dermatol
-
2016
Targeted Exon Skipping Restores Type VII Collagen Expression and Anchoring Fi..., J Invest Dermatol
-
2016
Gene-Corrected Fibroblast Therapy for Recessive Dystrophic Epidermolysis Bull..., J Invest Dermatol
-
2016
Comparison of 3 type VII collagen (C7) assays for serologic diagnosis of epid..., J Am Acad Dermatol
-
2016
Marked intrafamilial phenotypic heterogeneity in dystrophic epidermolysis bul..., Br J Dermatol
-
2014
HEK293-based production platform for γ-retroviral (self-inactivating) vectors..., Hum Gene Ther Clin Dev
-
2012
Antisense-mediated exon skipping to reframe transcripts., Methods Mol Biol
-
2012
siRNA-mediated allele-specific inhibition of mutant type VII collagen in domi..., J Invest Dermatol
-
2011
A new case of keratin 14 functional knockout causes severe recessive EBS and ..., J Invest Dermatol
-
2010
Induced pluripotent stem cells from individuals with recessive dystrophic epi..., J Invest Dermatol
-
2010
Gene therapy for recessive dystrophic epidermolysis bullosa., Dermatol Clin
-
2008
Keratitis-ichthyosis-deafness syndrome caused by GJB2 maternal mosaicism., J Invest Dermatol
-
2006
DNA-based prenatal diagnosis of harlequin ichthyosis and characterization of ..., J Invest Dermatol
-
2006
Generalized epidermolytic hyperkeratosis in two unrelated children from paren..., J Invest Dermatol
-
2006
Three severe cases of EBS Dowling-Meara caused by missense and frameshift mut..., J Invest Dermatol