REYNOLDS, GIUSEPPE
REYNOLDS, GIUSEPPE
SCIENZE DELLA SANITA' PUBBLICA E PEDIATRICHE
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
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
Epidemiology of the disorders of the Pik3ca-related overgrowth spectrum (Pros)
2023-01-01 Reynolds, Giuseppe; Cardaropoli, Simona; Carli, Diana; Luca, Maria; Gazzin, Andrea; Coppo, Paola; La Selva, Roberta; Piglionica, Marilidia; Bagnulo, Rosanna; Turchiano, Antonella; Ranieri, Carlotta; Resta, Nicoletta; Mussa, Alessandro
Expanding Clinical and Genetic Landscape of SATB2-Associated Syndrome
2025-01-01 Pullano, Verdiana; Rondot, Federico; Carelli, Ilaria; Trajkova, Slavica; Carestiato, Silvia; Cardaropoli, Simona; Carli, Diana; Biamino, Elisa; Sirchia, Fabio; Reynolds, Giuseppe; Keller, Roberto; Shukarova-Angelovska, Elena; Ferrero, Giovanni Battista; Brusco, Alfredo; 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
Quantification of Lateralized Overgrowth and Genotype-Driven Tissue Composition
2025-01-01 Gazzin, Andrea; Reynolds, Giuseppe; Allegro, Damiano; Rossi, Davide; Sciandra, Francesca; Afkhami, Hirad Akberi; Cardaropoli, Simona; Piglionica, Marilidia; Resta, Nicoletta; Di Stefano, Marco; Mussa, Alessandro
The wide phenotypic spectrum of thiamine metabolism dysfunction syndrome 5 and its treatment
2025-01-01 Dallan, Alice; Reynolds, Giuseppe; Canavese, Carlotta; Carli, Diana; Luca, Maria; Gazzin, Andrea; Spada, Marco; Porta, Francesco; Mussa, Alessandro
The wide phenotypic spectrum of thiamine metabolism dysfunction syndrome 5 and its treatment
2025-01-01 Dallan, Alice; Reynolds, Giuseppe; Canavese, Carlotta; Carli, Diana; Luca, Maria; Gazzin, Andrea; Spada, Marco; Porta, Francesco; 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
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 |
|---|---|---|---|
| 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 | |
| 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 | |
| Epidemiology of the disorders of the Pik3ca-related overgrowth spectrum (Pros) | 2023 | Reynolds, Giuseppe; Cardaropoli, Simona; Carli, Diana; Luca, Maria; Gazzin, Andrea; Coppo, Paola; La Selva, Roberta; Piglionica, Marilidia; Bagnulo, Rosanna; Turchiano, Antonella; Ranieri, Carlotta; Resta, Nicoletta; Mussa, Alessandro | |
| Expanding Clinical and Genetic Landscape of SATB2-Associated Syndrome | 2025 | Pullano, Verdiana; Rondot, Federico; Carelli, Ilaria; Trajkova, Slavica; Carestiato, Silvia; Cardaropoli, Simona; Carli, Diana; Biamino, Elisa; Sirchia, Fabio; Reynolds, Giuseppe; Keller, Roberto; Shukarova-Angelovska, Elena; Ferrero, Giovanni Battista; Brusco, Alfredo; 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 | |
| Quantification of Lateralized Overgrowth and Genotype-Driven Tissue Composition | 2025 | Gazzin, Andrea; Reynolds, Giuseppe; Allegro, Damiano; Rossi, Davide; Sciandra, Francesca; Afkhami, Hirad Akberi; Cardaropoli, Simona; Piglionica, Marilidia; Resta, Nicoletta; Di Stefano, Marco; Mussa, Alessandro | |
| The wide phenotypic spectrum of thiamine metabolism dysfunction syndrome 5 and its treatment | 2025 | Dallan, Alice; Reynolds, Giuseppe; Canavese, Carlotta; Carli, Diana; Luca, Maria; Gazzin, Andrea; Spada, Marco; Porta, Francesco; Mussa, Alessandro | |
| The wide phenotypic spectrum of thiamine metabolism dysfunction syndrome 5 and its treatment | 2025 | Dallan, Alice; Reynolds, Giuseppe; Canavese, Carlotta; Carli, Diana; Luca, Maria; Gazzin, Andrea; Spada, Marco; Porta, Francesco; 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 | |
| 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 |