PALISSON ETCHARREN, FRANCIS
Preferred name
PALISSON ETCHARREN, FRANCIS
Official Name
PALISSON ETCHARREN, FRANCIS
Main Affiliation
Email
fpalisson@udd.cl
ORCID
0000-0001-9196-841X
Scopus Author ID
18037973900
41 results
Now showing 1 - 10 of 41
- Some of the metrics are blocked by yourconsent settings
Item type:Publication, Prevalence of Crown Resorption in Amelogenesis Imperfecta due to Junctional Epidermolysis Bullosa(Wiley, 2025-01-08)1Scopus© Citations 4 - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Lamotrigine-induced toxic epidermal necrolysis treated with intravenous immunoglobulin and amniotic membranes(2008-06-01)13Scopus© Citations 11 - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Basic science of epidermolysis bullosa and diagnostic and molecular characterization: Proceedings of the IInd International Symposium on Epidermolysis Bullosa, Santiago, Chile, 2005(2007); 1 1Scopus© Citations 15 - Some of the metrics are blocked by yourconsent settings
Item type:Publication, A Novel Homozygous 9385 bp Deletion in the FERMT1 (KIND1) Gene in a Malaysian Family with Kindler Epidermolysis bullosa and a Review of Large Deletions(MDPI AG, 2025-04-29); Kindler Epidermolysis bullosa (KEB; OMIM 173650) is a rare autosomal recessive genodermatosis characterized by bullous poikiloderma and photosensitivity. Additional presentations include blistering, poor wound healing, skin atrophy, and increased risk of skin cancer. Most cases of KEB result from aberrations in the FERMT1 (Fermitin family member 1) gene encoding kindlin-1 and include nonsense, frameshift, splicing, and missense variants. Large deletion variants have been reported in nine cases to date. Most variants are predicted to lead to premature termination of translation and to loss of kindlin-1 function. In this study, we report on a 33-year-old male patient who presented with typical clinical manifestations of KEB. As routine molecular testing failed to obtain a diagnosis, Next Generation Sequencing (NGS) of an Epidermolysis Bullosa (EB)-specific panel was carried out followed by the determination of the deletion breakpoints and verification at the mRNA and protein levels. This approach revealed a new large homozygous deletion of ~9.4 kb in the FERMT1 gene involving exons 7 to 9. Finally, we performed a literature review on large FERMT1 deletions. The deletion is predicted to skip exons 7 to 9 within the mRNA, which results in a frameshift. The patient’s phenotype is likely caused by the resulting truncated and non-functioning protein. Our report further enriches the spectrum of FERMT1 gene variants to improve genotype–phenotype correlations.1 - Some of the metrics are blocked by yourconsent settings
Item type:Publication, 4Scopus© Citations 3 - Some of the metrics are blocked by yourconsent settings
Item type:Publication, 1 - Some of the metrics are blocked by yourconsent settings
Item type:Publication, N-acetylcysteine exerts senescence-selective antifibrotic effects in fibroblast from chronic wounds in recessive dystrophic epidermolysis bullosa(Oxford University Press (OUP), 2026-06-02)1 - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Corrigendum to “Novel and recurrent COL7A1 mutations in Chilean patients with dystrophic epidermolysis bullosa” [J. Dermatol. Sci. 65 (2012) 149–152](2012)4 1 - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Novel and recurrent COL7A1 mutations in Chilean patients with dystrophic epidermolysis bullosa(2012); 1Scopus© Citations 17 - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Enfoque clínico del paciente con síndrome de Stevens-Johnson y necrólisis epidérmica tóxica: Parte II(SciELO Agencia Nacional de Investigacion y Desarrollo (ANID), 2025-12)2Scopus© Citations 1