FORTUGNO, PAOLA
FORTUGNO, PAOLA
Dipartimento di Scienze Umane e Promozione della Qualità della Vita
"Affinity maturation" of ligands for HCV-specific serum antibodies
2000-01-01 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
2016-01-01 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
2021-01-01 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
2012-01-01 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
2014-01-01 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
2001-01-01 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
2002-01-01 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
2015-01-01 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
2021-01-01 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
2009-01-01 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
Chromatin conformation capture in the clinic: 4C-seq/HiC distinguishes pathogenic from neutral duplications at the GPR101 locus
2024-01-01 Daly, Adrian F; Dunnington, Leslie A; Rodriguez-Buritica, David F; Spiegel, Erica; Brancati, Francesco; Mantovani, Giovanna; Rawal, Vandana M; Faucz, Fabio Rueda; Hijazi, Hadia; Caberg, Jean-Hubert; Nardone, Anna Maria; Bengala, Mario; Fortugno, Paola; Del Sindaco, Giulia; Ragonese, Marta; Gould, Helen; Cannavò, Salvatore; Pétrossians, Patrick; Lania, Andrea; Lupski, James R; Beckers, Albert; Stratakis, Constantine A; Levy, Brynn; Trivellin, Giampaolo; Franke, Martin
Colony assay for phage-displayed libraries
2000-01-01 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
2022-01-01 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)
2023-01-01 Pascolini, Giulia; Fortugno, Paola; Chandramouli, Balasubramanian; Didona, Biagio; Castiglia, Daniele
Downregulation of DeltaNp63alpha in keratinocytes by p14ARF-mediated SUMO-conjugation and degradation
2009-01-01 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
2014-01-01 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
2018-01-01 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
2015-01-01 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
2011-01-01 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
2019-01-01 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
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| "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 | |
| Chromatin conformation capture in the clinic: 4C-seq/HiC distinguishes pathogenic from neutral duplications at the GPR101 locus | 1-gen-2024 | Daly, Adrian F; Dunnington, Leslie A; Rodriguez-Buritica, David F; Spiegel, Erica; Brancati, Francesco; Mantovani, Giovanna; Rawal, Vandana M; Faucz, Fabio Rueda; Hijazi, Hadia; Caberg, Jean-Hubert; Nardone, Anna Maria; Bengala, Mario; Fortugno, Paola; Del Sindaco, Giulia; Ragonese, Marta; Gould, Helen; Cannavò, Salvatore; Pétrossians, Patrick; Lania, Andrea; Lupski, James R; Beckers, Albert; Stratakis, Constantine A; Levy, Brynn; Trivellin, Giampaolo; Franke, Martin | |
| 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 |