Associated Papers
Rare diseases load through the study of a regional population.
Michel É et al.
Plos Genetics, 2025
41100445 (PubMed )
Supplement: pgen.1011876.s002.pdf
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
40791678 (PubMed )
Supplement: media-2.xlsx › Table_S11_FC_Founder_variants_
Descriptive Study of the Clinical and Molecular Features of Epidermolysis Bullosa Patients in a Romanian European Reference Network-Skin Affiliated Reference Center.
Suru A et al.
Cureus, 2024
Allele-Specific Inactivation of an Autosomal Dominant Epidermolysis Bullosa Simplex Mutation Using CRISPR-Cas9.
Bchetnia M et al.
The Crispr Journal, 2022
Generation of three induced pluripotent stem cell lines (UQACi003-A, UQACi004-A, and UQACi006-A) from three patients with KRT5 epidermolysis bullosa simplex mutations.
Bchetnia M et al.
Stem Cell Research, 2022
Genetic burden linked to founder effects in Saguenay-Lac-Saint-Jean illustrates the importance of genetic screening test availability.
Bchetnia M et al.
Journal of Medical Genetics, 2021
Severe epidermolysis bullosa simplex phenotype caused by codominant mutations p.Ile377Thr in keratin 14 and p.Gly138Glu in keratin 5.
Bchetnia M et al.
Experimental Dermatology, 2020
Successful dapsone therapy in inherited epidermolysis bullosa.
Gibson M et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2020
Mutational analysis on 16 Japanese population cases with epidermolysis bullosa simplex.
Minakawa S et al.
Journal of Dermatological Science, 2013
Expression signature of epidermolysis bullosa simplex.
Bchetnia M et al.
Human Genetics, 2012
Novel and recurrent mutations in Keratin 5 and 14 in Korean patients with Epidermolysis bullosa simplex.
Kang TW et al.
Journal of Dermatological Science, 2010
Novel keratin 5 mutations in epidermolysis bullosa simplex: cases with unusual genotype-phenotype correlation.
Oh SW et al.
Journal of Dermatological Science, 2007
Select a paper to view details