MASSURAS, STEFANIA
MASSURAS, STEFANIA
SCIENZE MEDICHE
Beckwith-Wiedemann spectrum (BWSp): an update on diagnosis, management, and follow-up from the scientific committee of the Italian BWSp association
2025-01-01 Russo, Silvia; Milani, Donatella; Meossi, Camilla; Marcucci, Lorenzo; Pajno, Roberta; Butti, Niccolò; Cocchi, Guido; Tannorella, Pierpaola; Bertoletti, Monica; Carli, Diana; Meazzini, Maria Costanza; Tortora, Chiara; Ferrari, Mario; Zampino, Giuseppe; Massuras, Stefania; Ferrero, Giovanni Battista; Quarello, Paola; Rossetti, Giulia; Montirosso, Rosario; De Pellegrin, Maurizio; Riccio, Andrea; Mussa, Alessandro
DDOST-Congenital Disorder of Glycosylation: Defining the Clinical Spectrum and First Report of a Structural Variant
2025-01-01 Reynolds, Giuseppe; Carelli, Ilaria; Rondot, Federico; Massuras, Stefania; Pagliardini, Veronica; Gragnaniello, Vincenza; Burlina, Alberto B; Resciniti, Sara; Agata, Simona; Colavito, Davide; Mussa, Alessandro
DDOST-Congenital Disorder of Glycosylation: Defining the Clinical Spectrum and First Report of a Structural Variant
2025-01-01 Reynolds, Giuseppe; Carelli, Ilaria; Rondot, Federico; Massuras, Stefania; Pagliardini, Veronica; Gragnaniello, Vincenza; Burlina, Alberto B; Resciniti, Sara; Agata, Simona; Colavito, Davide; Mussa, Alessandro
Defining the variant-phenotype correlation in patients affected by Noonan syndrome with the RAF1:c.770C>T p.(Ser257Leu) variant
2024-01-01 Gazzin, Andrea; Fornari, Federico; Niceta, Marcello; Leoni, Chiara; Dentici, Maria Lisa; Carli, Diana; Villar, Anna Maria; Calcagni, Giulio; Banaudi, Elena; Massuras, Stefania; Cardaropoli, Simona; Airulo, Elena; Daniele, Paola; Monda, Emanuele; Limongelli, Giuseppe; Riggi, Chiara; Zampino, Giuseppe; Digilio, Maria Cristina; De Luca, Alessandro; Tartaglia, Marco; Ferrero, Giovanni Battista; Mussa, Alessandro
Domain-specific phenotypic profiles in RAF1-related Noonan syndrome
2026-01-01 Gazzin, Andrea; Calvo, Marta; Rondot, Federico; Reynolds, Giuseppe; Leoni, Chiara; Niceta, Marcello; Dentici, Maria Lisa; Digilio, Maria Cristina; Lepri, Francesca; Monda, Emanuele; Carelli, Ilaria; Trevisson, Eva; Scala, Iris; Mancano, Giorgia; Andreucci, Elena; Stanzial, Franco; Brancati, Francesco; Zampino, Giuseppe; Tarani, Luigi; Paparella, Roberto; Carli, Diana; Villar, Anna Maria; Banaudi, Elena; Massuras, Stefania; Cardaropoli, Simona; Daniele, Paola; Airulo, Elena; Riggi, Chiara; Calcagni, Giulio; Ferrero, Giovanni Battista; Limongelli, Giuseppe; De Luca, Alessandro; Tartaglia, Marco; Mussa, Alessandro
Expanding the phenotypic spectrum of PROS: reclassifying isolated lateralised overgrowth
2025-01-01 Gazzin, Andrea; Reynolds, Giuseppe; Massuras, Stefania; Luca, Maria; Coppo, Paola; Carli, Diana; Piglionica, Marilidia; Martino, Stefania; Bagnulo, Rosanna; Ferrero, Giovanni Battista; Resta, Nicoletta; Mussa, Alessandro
Molecular Basis and Diagnostic Approach to Isolated and Syndromic Lateralized Overgrowth in Childhood
2024-01-01 Bellucca, Simone; Carli, Diana; Gazzin, Andrea; Massuras, Stefania; Cardaropoli, Simona; Luca, Maria; Coppo, Paola; Caprioglio, Mirko; La Selva, Roberta; Piglionica, Marilidia; Bontempo, Piera; D'Elia, Gemma; Bagnulo, Rosanna; Ferrero, Giovanni Battista; Resta, Nicoletta; Mussa, Alessandro
Novel PDGFRB Gene Fusions in Two Cases of Infantile Myofibromatosis
2025-01-01 Boccia, Federica; Barresi, Sabina; Vallese, Silvia; Martino, Valentina Di; Bombaci, Sabrina; Massuras, Stefania; Gazzin, Andrea; Carli, Diana; Coppo, Paola; Roma, Rocco; Giovannoni, Isabella; Mussa, Alessandro; Alaggio, Rita
Novel PDGFRB Gene Fusions in Two Cases of Infantile Myofibromatosis
2025-01-01 Boccia, Federica; Barresi, Sabina; Vallese, Silvia; Martino, Valentina Di; Bombaci, Sabrina; Massuras, Stefania; Gazzin, Andrea; Carli, Diana; Coppo, Paola; Roma, Rocco; Giovannoni, Isabella; Mussa, Alessandro; Alaggio, Rita
Update on the Clinical and Molecular Characterization of Noonan Syndrome and Other RASopathies: A Retrospective Study and Systematic Review
2025-01-01 Reynolds, Giuseppe; Gazzin, Andrea; Carli, Diana; Massuras, Stefania; Cardaropoli, Simona; Luca, Maria; Defilippi, Beatrice; Tartaglia, Marco; Ferrero, Giovanni Battista; Mussa, Alessandro
Update on the Clinical and Molecular Characterization of Noonan Syndrome and Other RASopathies: A Retrospective Study and Systematic Review
2025-01-01 Reynolds, Giuseppe; Gazzin, Andrea; Carli, Diana; Massuras, Stefania; Cardaropoli, Simona; Luca, Maria; Defilippi, Beatrice; Tartaglia, Marco; Ferrero, Giovanni Battista; Mussa, Alessandro
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Beckwith-Wiedemann spectrum (BWSp): an update on diagnosis, management, and follow-up from the scientific committee of the Italian BWSp association | 2025 | Russo, Silvia; Milani, Donatella; Meossi, Camilla; Marcucci, Lorenzo; Pajno, Roberta; Butti, Niccolò; Cocchi, Guido; Tannorella, Pierpaola; Bertoletti, Monica; Carli, Diana; Meazzini, Maria Costanza; Tortora, Chiara; Ferrari, Mario; Zampino, Giuseppe; Massuras, Stefania; Ferrero, Giovanni Battista; Quarello, Paola; Rossetti, Giulia; Montirosso, Rosario; De Pellegrin, Maurizio; Riccio, Andrea; Mussa, Alessandro | |
| DDOST-Congenital Disorder of Glycosylation: Defining the Clinical Spectrum and First Report of a Structural Variant | 2025 | Reynolds, Giuseppe; Carelli, Ilaria; Rondot, Federico; Massuras, Stefania; Pagliardini, Veronica; Gragnaniello, Vincenza; Burlina, Alberto B; Resciniti, Sara; Agata, Simona; Colavito, Davide; Mussa, Alessandro | |
| DDOST-Congenital Disorder of Glycosylation: Defining the Clinical Spectrum and First Report of a Structural Variant | 2025 | Reynolds, Giuseppe; Carelli, Ilaria; Rondot, Federico; Massuras, Stefania; Pagliardini, Veronica; Gragnaniello, Vincenza; Burlina, Alberto B; Resciniti, Sara; Agata, Simona; Colavito, Davide; Mussa, Alessandro | |
| Defining the variant-phenotype correlation in patients affected by Noonan syndrome with the RAF1:c.770C>T p.(Ser257Leu) variant | 2024 | Gazzin, Andrea; Fornari, Federico; Niceta, Marcello; Leoni, Chiara; Dentici, Maria Lisa; Carli, Diana; Villar, Anna Maria; Calcagni, Giulio; Banaudi, Elena; Massuras, Stefania; Cardaropoli, Simona; Airulo, Elena; Daniele, Paola; Monda, Emanuele; Limongelli, Giuseppe; Riggi, Chiara; Zampino, Giuseppe; Digilio, Maria Cristina; De Luca, Alessandro; Tartaglia, Marco; Ferrero, Giovanni Battista; Mussa, Alessandro | |
| Domain-specific phenotypic profiles in RAF1-related Noonan syndrome | 2026 | Gazzin, Andrea; Calvo, Marta; Rondot, Federico; Reynolds, Giuseppe; Leoni, Chiara; Niceta, Marcello; Dentici, Maria Lisa; Digilio, Maria Cristina; Lepri, Francesca; Monda, Emanuele; Carelli, Ilaria; Trevisson, Eva; Scala, Iris; Mancano, Giorgia; Andreucci, Elena; Stanzial, Franco; Brancati, Francesco; Zampino, Giuseppe; Tarani, Luigi; Paparella, Roberto; Carli, Diana; Villar, Anna Maria; Banaudi, Elena; Massuras, Stefania; Cardaropoli, Simona; Daniele, Paola; Airulo, Elena; Riggi, Chiara; Calcagni, Giulio; Ferrero, Giovanni Battista; Limongelli, Giuseppe; De Luca, Alessandro; Tartaglia, Marco; Mussa, Alessandro | |
| Expanding the phenotypic spectrum of PROS: reclassifying isolated lateralised overgrowth | 2025 | Gazzin, Andrea; Reynolds, Giuseppe; Massuras, Stefania; Luca, Maria; Coppo, Paola; Carli, Diana; Piglionica, Marilidia; Martino, Stefania; Bagnulo, Rosanna; Ferrero, Giovanni Battista; Resta, Nicoletta; Mussa, Alessandro | |
| Molecular Basis and Diagnostic Approach to Isolated and Syndromic Lateralized Overgrowth in Childhood | 2024 | Bellucca, Simone; Carli, Diana; Gazzin, Andrea; Massuras, Stefania; Cardaropoli, Simona; Luca, Maria; Coppo, Paola; Caprioglio, Mirko; La Selva, Roberta; Piglionica, Marilidia; Bontempo, Piera; D'Elia, Gemma; Bagnulo, Rosanna; Ferrero, Giovanni Battista; Resta, Nicoletta; Mussa, Alessandro | |
| Novel PDGFRB Gene Fusions in Two Cases of Infantile Myofibromatosis | 2025 | Boccia, Federica; Barresi, Sabina; Vallese, Silvia; Martino, Valentina Di; Bombaci, Sabrina; Massuras, Stefania; Gazzin, Andrea; Carli, Diana; Coppo, Paola; Roma, Rocco; Giovannoni, Isabella; Mussa, Alessandro; Alaggio, Rita | |
| Novel PDGFRB Gene Fusions in Two Cases of Infantile Myofibromatosis | 2025 | Boccia, Federica; Barresi, Sabina; Vallese, Silvia; Martino, Valentina Di; Bombaci, Sabrina; Massuras, Stefania; Gazzin, Andrea; Carli, Diana; Coppo, Paola; Roma, Rocco; Giovannoni, Isabella; Mussa, Alessandro; Alaggio, Rita | |
| Update on the Clinical and Molecular Characterization of Noonan Syndrome and Other RASopathies: A Retrospective Study and Systematic Review | 2025 | Reynolds, Giuseppe; Gazzin, Andrea; Carli, Diana; Massuras, Stefania; Cardaropoli, Simona; Luca, Maria; Defilippi, Beatrice; Tartaglia, Marco; Ferrero, Giovanni Battista; Mussa, Alessandro | |
| Update on the Clinical and Molecular Characterization of Noonan Syndrome and Other RASopathies: A Retrospective Study and Systematic Review | 2025 | Reynolds, Giuseppe; Gazzin, Andrea; Carli, Diana; Massuras, Stefania; Cardaropoli, Simona; Luca, Maria; Defilippi, Beatrice; Tartaglia, Marco; Ferrero, Giovanni Battista; Mussa, Alessandro |