Pubblicazioni

Dystrophic Epidermolysis Bullosa: COL7A1 Mutation Landscape in a Multi-Ethnic Cohort of 152 Extended Families with High Degree of Customary Consanguineous Marriages

2017 - JOURNAL OF INVESTIGATIVE DERMATOLOGY

Vahidnezhad, Hassan; Youssefian, Leila; Zeinali, Sirous; Saeidian, Amir Hossein; Sotoudeh, Soheila; Mozafari, Nikoo; Abiri, Maryam; Kajbafzadeh, Abdol Mohammad; Barzegar, Mohammadreza; Ertel, Adam; Fortina, Paolo; Uitto, Jouni

Gene-Targeted Next Generation Sequencing Identifies PNPLA1 Mutations in Patients with a Phenotypic Spectrum of Autosomal Recessive Congenital Ichthyosis: The Impact of Consanguinity

2017 - JOURNAL OF INVESTIGATIVE DERMATOLOGY

Vahidnezhad, Hassan; Youssefian, Leila; Saeidian, Amir Hossein; Zeinali, Sirous; Mansouri, Parvin; Sotoudeh, Soheila; Barzegar, Mohammadreza; Mohammadi asl, Javad; Karamzadeh, Razieh; Abiri, Maryam; Mccormick, Kevin; Fortina, Paolo; Uitto, Jouni

Multigene Next-Generation Sequencing Panel Identifies Pathogenic Variants in Patients with Unknown Subtype of Epidermolysis Bullosa: Subclassification with Prognostic Implications

2017 - JOURNAL OF INVESTIGATIVE DERMATOLOGY

Vahidnezhad, Hassan; Youssefian, Leila; Saeidian, Amir Hossein; Touati, Andrew; Sotoudeh, Soheila; Abiri, Maryam; Barzegar, Mohammadreza; Aghazadeh, Nessa; Mahmoudi, Hamidreza; Norouz-zadeh, Sara; Hamid, Mohammad; Zahabiyon, Mahla; Bagherian, Hamideh; Zeinali, Sirous; Fortina, Paolo; Uitto, Jouni