FORTUGNO, PAOLA

FORTUGNO, PAOLA  

Dipartimento di Scienze Umane e Promozione della Qualità della Vita  

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Risultati 1 - 20 di 52 (tempo di esecuzione: 0.012 secondi).
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"Affinity maturation" of ligands for HCV-specific serum antibodies 1-gen-2000 Urbanelli, L; Fortugno, P; Bartoli, F; Nuzzo, M; De Tomassi, A; Felici, F; Monaci, P
A compound synonymous mutation c.474G>A with p.Arg578X mutation in SPINK5 causes splicing disorder and mild phenotype in Netherton syndrome 1-gen-2016 Numata, Sanae; Teye, Kwesi; Krol, Rafal P; Okamatsu, Yuki; Hashikawa, Keiko; Matsuda, Mitsuhiro; Fortugno, Paola; Di Zenzo, Giovanni; Castiglia, Daniele; Zambruno, Giovanna; Hamada, Takahiro; Hashimoto, Takashi
A Novel Phenotype of Junctional Epidermolysis Bullosa with Transient Skin Fragility and Predominant Ocular Involvement Responsive to Human Amniotic Membrane Eyedrops 1-gen-2021 Castiglia, Daniele; Fortugno, Paola; Condorelli, Angelo Giuseppe; Barresi, Sabina; De Luca, Naomi; Pizzi, Simone; Neri, Iria; Graziano, Claudio; Trojan, Diletta; Ponzin, Diego; Rossi, Sabrina; Zambruno, Giovanna; Tartaglia, Marco
A synonymous mutation in SPINK5 exon 11 causes Netherton syndrome by altering exonic splicing regulatory elements 1-gen-2012 Fortugno, Paola; Grosso, Fabiana; Zambruno, Giovanna; Pastore, Serena; Faletra, Flavio; Castiglia, Daniele
A truncating mutation in the laminin-332α chain highlights the role of the LG45 proteolytic domain in regulating keratinocyte adhesion and migration 1-gen-2014 Di Zenzo, G; El Hachem, M; Diociaiuti, A; Boldrini, R; Calabresi, V; Cianfarani, F; Fortugno, P; Piccinni, E; Zambruno, G; Castiglia, D
ADAM-HCV, a new-concept diagnostic assay for antibodies to hepatitis C virus in serum 1-gen-2001 Minenkova, O; Gargano, N; De Tomassi, A; Bellintani, F; Pucci, A; Fortugno, P; Fuscaldi, E; Pessi, A; Rapicetta, M; Miceli, M; Iudicone, P; Cortese, R; Felici, F; Monaci, P
Antigenicity and immunogenicity of phage library-selected peptide mimics of the major surface proteophosphoglycan antigens of Entamoeba histolytica 1-gen-2002 Melzer, Helen; Fortugno, Paola; Mansouri, Erfan; Felici, Franco; Marinets, Alexandra; Wiedermann, Gerhard; Kollaritsch, Herwig; Von Specht, Bernd-Ulrich; Duchêne, Michael
Betapapillomavirus in multiple non-melanoma skin cancers of Netherton syndrome: Case report and published work review 1-gen-2015 Guerra, Liliana; Fortugno, Paola; Sinistro, Anna; Proto, Vittoria; Zambruno, Giovanna; Didona, Biagio; Castiglia, Daniele
Biallelic mutations in RNF220 cause laminopathies featuring leukodystrophy, ataxia and deafness 1-gen-2021 Sferra, Antonella; Fortugno, Paola; Motta, Marialetizia; Aiello, Chiara; Petrini, Stefania; Ciolfi, Andrea; Cipressa, Francesca; Moroni, Isabella; Leuzzi, Vincenzo; Pieroni, Luisa; Marini, Federica; Boespflug Tanguy, Odile; Eymard-Pierre, Eleonore; Danti, Federica Rachele; Compagnucci, Claudia; Zambruno, Giovanna; Brusco, Alfredo; Santorelli, Filippo M; Chiapparini, Luisa; Francalanci, Paola; Loizzo, Anna Livia; Tartaglia, Marco; Cestra, Gianluca; Bertini, Enrico
Chemerin expression marks early psoriatic skin lesions and correlates with plasmacytoid dendritic cell recruitment 1-gen-2009 Albanesi, Cristina; Scarponi, Claudia; Pallotta, Sabatino; Daniele, Roberta; Bosisio, Daniela; Madonna, Stefania; Fortugno, Paola; Gonzalvo-Feo, Safiyè; Franssen, Jean-Denis; Parmentier, Marc; De Pità, Ornella; Girolomoni, Giampiero; Sozzani, Silvano
Colony assay for phage-displayed libraries 1-gen-2000 Minenkova, O; De Tomassi, A; Bellintani, F; Fortugno, P; Gargano, N; Felici, F; Monaci, P
De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway 1-gen-2022 Asif, Maria; Kaygusuz, Emrah; Shinawi, Marwan; Nickelsen, Anna; Hsieh, Tzung-Chien; Wagle, Prerana; Budde, Birgit S; Hochscherf, Jennifer; Abdullah, Uzma; Höning, Stefan; Nienberg, Christian; Lindenblatt, Dirk; Noegel, Angelika A; Altmüller, Janine; Thiele, Holger; Motameny, Susanne; Fleischer, Nicole; Segal, Idan; Pais, Lynn; Tinschert, Sigrid; Samra, Nadra Nasser; Savatt, Juliann M; Rudy, Natasha L; De Luca, Chiara; Fortugno, Paola; White, Susan M; Krawitz, Peter; Hurst, Anna C E; Niefind, Karsten; Jose, Joachim; Brancati, Francesco; Nürnberg, Peter; Hussain, Muhammad Sajid
Defining the clinical spectrum of ichthyosis follicularis, atrichia and photophobia clinical association type 1 (IFAP1) 1-gen-2023 Pascolini, Giulia; Fortugno, Paola; Chandramouli, Balasubramanian; Didona, Biagio; Castiglia, Daniele
Downregulation of DeltaNp63alpha in keratinocytes by p14ARF-mediated SUMO-conjugation and degradation 1-gen-2009 Vivo, Maria; Di Costanzo, Antonella; Fortugno, Paola; Pollice, Alessandra; Calabrò, Viola; La Mantia, Girolama
Early immunopathological diagnosis of ichthyosis with confetti in two sporadic cases with new mutations in keratin 10 1-gen-2014 Diociaiuti, Andrea; Fortugno, Paola; El Hachem, May; Angelo, Corrado; Proto, Vittoria; De Luca, Naomi; Martinelli, Diego; Boldrini, Renata; Castiglia, Daniele; Zambruno, Giovanna
Epidermolysis Bullosa (EB) Acquisita in an Adult Patient with Previously Unrecognized Mild Dystrophic EB and Biallelic COL7A1 Mutations 1-gen-2018 Guerra, Liliana; Condorelli, Angelo Giuseppe; Fortugno, Paola; Calabresi, Valentina; Pedicelli, Cristina; Di Zenzo, Giovanni; Castiglia, Daniele
Exon-Specific U1s Correct SPINK5 Exon 11 Skipping Caused by a Synonymous Substitution that Affects a Bifunctional Splicing Regulatory Element 1-gen-2015 Dal Mas, Andrea; Fortugno, Paola; Donadon, Irving; Levati, Lauretta; Castiglia, Daniele; Pagani, Franco
Full sequencing of the FLG gene in Italian patients with atopic eczema: evidence of new mutations, but lack of an association 1-gen-2011 Cascella, Raffaella; Foti Cuzzola, Valeria; Lepre, Tiziana; Galli, Elena; Moschese, Viviana; Chini, Loredana; Mazzanti, Cinzia; Fortugno, Paola; Novelli, Giuseppe; Giardina, Emiliano
Genotypic Categorization of Loeys-Dietz Syndrome Based on 24 Novel Families and Literature Data 1-gen-2019 Camerota, Letizia; Ritelli, Marco; Wischmeijer, Anita; Majore, Silvia; Cinquina, Valeria; Fortugno, Paola; Monetta, Rosanna; Gigante, Laura; Marfan Syndrome Study Group Tor Vergata University Hospital, Null; Sangiuolo, Federica Carla; Novelli, Giuseppe; Colombi, Marina; Brancati, Francesco
Ichthyosis Linearis Circumflexa as the Only Clinical Manifestation of Netherton Syndrome 1-gen-2015 Guerra, Liliana; Fortugno, Paola; Pedicelli, Cristina; Mazzanti, Cinzia; Proto, Vittoria; Zambruno, Giovanna; Castiglia, Daniele