Fortina Paolo

professore associato
SSD: 
MED/03
paolo.fortina@uniroma1.it
indirizzo: 
Viale Regina Elena 324, 00161 Roma
telefono: 
06-44160573
fax: 
06-44160548

Pubblicazioni

Whole exome sequencing identifies a germline MET mutation in two siblings with hereditary wild-type RET medullary thyroid cancer (2018)
Sponziello, Marialuisa; Benvenuti, Silvia; Gentile, Alessandra; Pecce, Valeria; Rosignolo, Francesca; Virzì, Anna Rita; Milan, Melissa; Comoglio, Paolo M.; Londin, Eric; Fortina, Paolo; Barnabei, Agnese; Appetecchia, Marialuisa; Marandino, Ferdinando; Russo, Diego; Filetti, Sebastiano; Durante, Cosimo; Verrienti, Antonella
HUMAN MUTATION [1059-7794]. 39: pagg. 371-377
Dystrophic Epidermolysis Bullosa: COL7A1 Mutation Landscape in a Multi-Ethnic Cohort of 152 Extended Families with High Degree of Customary Consanguineous Marriages (2017)
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
JOURNAL OF INVESTIGATIVE DERMATOLOGY [0022-202X]. 137: pagg. 660-669
Transcriptomic profiling of 39 commonly-used neuroblastoma cell lines (2017)
Harenza, Jo Lynne; Diamond, Maura A.; Adams, Rebecca N.; Song, Michael M.; Davidson, Heather L.; Hart, Lori S.; Dent, Maiah H.; Fortina, Paolo; Reynolds, C. Patrick; Maris, John M.
Nanostructured luminescently labeled nucleic acids (2017)
Kricka, Larry J; Fortina, Paolo; Park, Jason Y.
LUMINESCENCE [1522-7235]. 32: pagg. 132-141
Gene-Targeted Next Generation Sequencing Identifies PNPLA1 Mutations in Patients with a Phenotypic Spectrum of Autosomal Recessive Congenital Ichthyosis: The Impact of Consanguinity (2017)
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
JOURNAL OF INVESTIGATIVE DERMATOLOGY [0022-202X]. 137: pagg. 678-685