Sfoglia per Autore
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
Multiple Skin Squamous Cell Carcinomas in Junctional Epidermolysis Bullosa Due to Altered Laminin-332 Function
2020-01-01 Fortugno, Paola; Condorelli, Angelo Giuseppe; Dellambra, Elena; Guerra, Liliana; Cianfarani, Francesca; Tinaburri, Lavinia; Proto, Vittoria; De Luca, Naomi; Passarelli, Francesca; Ricci, Francesca; Zambruno, Giovanna; Castiglia, Daniele
Measles skin rash: Infection of lymphoid and myeloid cells in the dermis precedes viral dissemination to the epidermis
2020-01-01 Laksono, Brigitta M; Fortugno, Paola; Nijmeijer, Bernadien M; de Vries, Rory D; Cordisco, Sonia; Kuiken, Thijs; Geijtenbeek, Teunis B H; Duprex, W Paul; Brancati, Francesco; de Swart, Rik L
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
Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome
2021-01-01 Li, Dong; March, Michael E; Fortugno, Paola; Cox, Liza L; Matsuoka, Leticia S; Monetta, Rosanna; Seiler, Christoph; Pyle, Louise C; Bedoukian, Emma C; Sánchez-Soler, María José; Caluseriu, Oana; Grand, Katheryn; Tam, Allison; Aycinena, Alicia R P; Camerota, Letizia; Guo, Yiran; Sleiman, Patrick; Callewaert, Bert; Kumps, Candy; Dheedene, Annelies; Buckley, Michael; Kirk, Edwin P; Turner, Anne; Kamien, Benjamin; Patel, Chirag; Wilson, Meredith; Roscioli, Tony; Christodoulou, John; Cox, Timothy C; Zackai, Elaine H; Brancati, Francesco; Hakonarson, Hakon; Bhoj, Elizabeth J
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
RIPK4 regulates cell-cell adhesion in epidermal development and homeostasis
2022-01-01 Fortugno, Paola; Monetta, Rosanna; Belli, Manuel; Botti, Elisabetta; Angelucci, Francesco; Palmerini, Maria Grazia; Nottola, Stefania Annarita; De Luca, Chiara; Ceccarini, Marina; Salvatore, Marco; Bianchi, Luca; Macioce, Pompeo; Teson, Massimo; Ricci, Francesco; Macchiarelli, Guido; Didona, Biagio; Costanzo, Antonio; Castiglia, Daniele; Brancati, Francesco
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
RIPK4 regulates cell-cell adhesion in epidermal development and homeostasis
2022-01-01 Fortugno, Paola; Monetta, Rosanna; Belli, Manuel; Botti, Elisabetta; Angelucci, Francesco; Palmerini, Maria Grazia; Nottola, Stefania Annarita; De Luca, Chiara; Ceccarini, Marina; Salvatore, Marco; Bianchi, Luca; Macioce, Pompeo; Teson, Massimo; Ricci, Francesco; Macchiarelli, Guido; Didona, Biagio; Costanzo, Antonio; Castiglia, Daniele; Brancati, Francesco
Systematic Review and Meta-Analysis of Dietary Interventions and Microbiome in Phenylketonuria
2023-01-01 Ubaldi, Francesca; Frangella, Claudia; Volpini, Veronica; Fortugno, Paola; Valeriani, Federica; Romano Spica, Vincenzo
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
Truncating variants in the penultimate exon of TGFBR1 escaping nonsense-mediated mRNA decay cause Loeys-Dietz syndrome
2023-01-01 Fortugno, Paola; Monetta, Rosanna; Cinquina, Valeria; Rigon, Chiara; Boaretto, Francesca; De Luca, Chiara; Zoppi, Nicoletta; Di Leandro, Luana; De Domenico, Emanuela; Di Daniele, Arianna; Ippoliti, Rodolfo; Angelucci, Francesco; Di Cesare, Ernesto; De Paulis, Ruggero; Salviati, Leonardo; Colombi, Marina; Brancati, Francesco; Ritelli, Marco
Titolo | Data di pubblicazione | Autore(i) | File |
---|---|---|---|
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 | |
Multiple Skin Squamous Cell Carcinomas in Junctional Epidermolysis Bullosa Due to Altered Laminin-332 Function | 1-gen-2020 | Fortugno, Paola; Condorelli, Angelo Giuseppe; Dellambra, Elena; Guerra, Liliana; Cianfarani, Francesca; Tinaburri, Lavinia; Proto, Vittoria; De Luca, Naomi; Passarelli, Francesca; Ricci, Francesca; Zambruno, Giovanna; Castiglia, Daniele | |
Measles skin rash: Infection of lymphoid and myeloid cells in the dermis precedes viral dissemination to the epidermis | 1-gen-2020 | Laksono, Brigitta M; Fortugno, Paola; Nijmeijer, Bernadien M; de Vries, Rory D; Cordisco, Sonia; Kuiken, Thijs; Geijtenbeek, Teunis B H; Duprex, W Paul; Brancati, Francesco; de Swart, Rik L | |
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 | |
Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome | 1-gen-2021 | Li, Dong; March, Michael E; Fortugno, Paola; Cox, Liza L; Matsuoka, Leticia S; Monetta, Rosanna; Seiler, Christoph; Pyle, Louise C; Bedoukian, Emma C; Sánchez-Soler, María José; Caluseriu, Oana; Grand, Katheryn; Tam, Allison; Aycinena, Alicia R P; Camerota, Letizia; Guo, Yiran; Sleiman, Patrick; Callewaert, Bert; Kumps, Candy; Dheedene, Annelies; Buckley, Michael; Kirk, Edwin P; Turner, Anne; Kamien, Benjamin; Patel, Chirag; Wilson, Meredith; Roscioli, Tony; Christodoulou, John; Cox, Timothy C; Zackai, Elaine H; Brancati, Francesco; Hakonarson, Hakon; Bhoj, Elizabeth J | |
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 | |
RIPK4 regulates cell-cell adhesion in epidermal development and homeostasis | 1-gen-2022 | Fortugno, Paola; Monetta, Rosanna; Belli, Manuel; Botti, Elisabetta; Angelucci, Francesco; Palmerini, Maria Grazia; Nottola, Stefania Annarita; De Luca, Chiara; Ceccarini, Marina; Salvatore, Marco; Bianchi, Luca; Macioce, Pompeo; Teson, Massimo; Ricci, Francesco; Macchiarelli, Guido; Didona, Biagio; Costanzo, Antonio; Castiglia, Daniele; Brancati, Francesco | |
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 | |
RIPK4 regulates cell-cell adhesion in epidermal development and homeostasis | 1-gen-2022 | Fortugno, Paola; Monetta, Rosanna; Belli, Manuel; Botti, Elisabetta; Angelucci, Francesco; Palmerini, Maria Grazia; Nottola, Stefania Annarita; De Luca, Chiara; Ceccarini, Marina; Salvatore, Marco; Bianchi, Luca; Macioce, Pompeo; Teson, Massimo; Ricci, Francesco; Macchiarelli, Guido; Didona, Biagio; Costanzo, Antonio; Castiglia, Daniele; Brancati, Francesco | |
Systematic Review and Meta-Analysis of Dietary Interventions and Microbiome in Phenylketonuria | 1-gen-2023 | Ubaldi, Francesca; Frangella, Claudia; Volpini, Veronica; Fortugno, Paola; Valeriani, Federica; Romano Spica, Vincenzo | |
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 | |
Truncating variants in the penultimate exon of TGFBR1 escaping nonsense-mediated mRNA decay cause Loeys-Dietz syndrome | 1-gen-2023 | Fortugno, Paola; Monetta, Rosanna; Cinquina, Valeria; Rigon, Chiara; Boaretto, Francesca; De Luca, Chiara; Zoppi, Nicoletta; Di Leandro, Luana; De Domenico, Emanuela; Di Daniele, Arianna; Ippoliti, Rodolfo; Angelucci, Francesco; Di Cesare, Ernesto; De Paulis, Ruggero; Salviati, Leonardo; Colombi, Marina; Brancati, Francesco; Ritelli, Marco |
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