GAZZIN, ANDREA
GAZZIN, ANDREA
SCIENZE DELLA SANITA' PUBBLICA E PEDIATRICHE
Adult experiences in Beckwith-Wiedemann syndrome
2023-01-01 Drust, William A; Mussa, Alessandro; Gazzin, Andrea; Lapunzina, Pablo; Tenorio-Castaño, Jair; Nevado, Julian; Pascual, Patricia; Arias, Pedro; Parra, Alejandro; Getz, Kelly D; Kalish, Jennifer M
Adult phenotype of Beckwith-Wiedemann syndrome
2019-01-01 Carli, D; Gazzin, A; Molinatto, C; Sirchia, F; Cardaropoli, S; Mussa, A; Ferrero, GB
Chronic subdural hematoma: A previously unreported life-threatening complication in adult with Sotos syndrome
2020-01-01 Carli D.; Gazzin A.; Bongioanni M.R.; Bergui M.; Mussa A.; Ferrero G.B.
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
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
Exploring New Drug Repurposing Opportunities for MEK Inhibitors in RASopathies: A Comprehensive Review of Safety, Efficacy, and Future Perspectives of Trametinib and Selumetinib
2024-01-01 Gazzin, Andrea; Fornari, Federico; Cardaropoli, Simona; Carli, Diana; Tartaglia, Marco; Ferrero, Giovanni Battista; Mussa, Alessandro
Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis
2024-01-01 Dentici, Maria Lisa; Niceta, Marcello; Lepri, Francesca Romana; Mancini, Cecilia; Priolo, Manuela; Bonnard, Adeline Alice; Cappelletti, Camilla; Leoni, Chiara; Ciolfi, Andrea; Pizzi, Simone; Cordeddu, Viviana; Rossi, Cesare; Ferilli, Marco; Mucciolo, Mafalda; Colona, Vito Luigi; Fauth, Christine; Bellini, Melissa; Biasucci, Giacomo; Sinibaldi, Lorenzo; Briuglia, Silvana; Gazzin, Andrea; Carli, Diana; Memo, Luigi; Trevisson, Eva; Schiavariello, Concetta; Luca, Maria; Novelli, Antonio; Michot, Caroline; Sweertvaegher, Anne; Germanaud, David; Scarano, Emanuela; De Luca, Alessandro; Zampino, Giuseppe; Zenker, Martin; Mussa, Alessandro; Dallapiccola, Bruno; Cavé, Helene; Digilio, Maria Cristina; Tartaglia, Marco
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
Mulibrey nanism and immunological complications: a comprehensive case report and literature review
2023-01-01 Gazzin, Andrea; Pala, Francesca; Bosticardo, Marita; Niemela, Julie; Stoddard, Jennifer; Biasin, Eleonora; Quarello, Paola; Carli, Diana; Ferroni, Francesca; Delmonte, Ottavia M; Montin, Davide; Rosenzweig, Sergio D; Licciardi, Francesco; Notarangelo, Luigi D
NBAS pathogenic variants: defining the associated clinical and facial phenotype and genotype-phenotype correlations
2019-01-01 Carli, Diana; Giorgio, Elisa; Pantaleoni, Francesca; Bruselles, Alessandro; Barresi, Sabina; Riberi, Evelise; Licciardi, Francesco; Gazzin, Andrea; Baldassarre, Giuseppina; Pizzi, Simone; Niceta, Marcello; Radio, Francesca Clementina; Molinatto, Cristina; Montin, Davide; Calvo, Pier Luigi; Ciolfi, Andrea; Fleischer, Nicole; Ferrero, Giovanni Battista; Brusco, Alfredo; Tartaglia, Marco
Phenotype evolution and health issues of adult patients affected by Beckwith-Wiedemann Syndrome
2018-01-01 gazzin andrea, carli diana, molinatto cristina, cardaropoli simona, mussa alessandro, ferrero giovanni battista
Phenotype evolution and health issues of adults with Beckwith-Wiedemann syndrome
2019-01-01 Gazzin A.; Carli D.; Sirchia F.; Molinatto C.; Cardaropoli S.; Palumbo G.; Zampino G.; Ferrero G.B.; Mussa A.
Spatial tuning of electrophysiological responses to multisensory stimuli reveals a primitive coding of the body boundaries in newborns
2021-01-01 Ronga I.; Galigani M.; Bruno V.; Noel J.-P.; Gazzin A.; Perathoner C.; Serino A.; Garbarini F.
Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith–Wiedemann locus
2019-01-01 Valente F.M.; Sparago A.; Freschi A.; Hill-Harfe K.; Maas S.M.; Frints S.G.M.; Alders M.; Pignata L.; Franzese M.; Angelini C.; Carli D.; Mussa A.; Gazzin A.; Gabbarini F.; Acurzio B.; Ferrero G.B.; Bliek J.; Williams C.A.; Riccio A.; Cerrato F.
Work-Up and Treatment Strategies for Individuals with PIK3CA-Related Disorders: A Consensus of Experts from the Scientific Committee of the Italian Macrodactyly and PROS Association
2023-01-01 Gazzin, Andrea; Leoni, Chiara; Viscogliosi, Germana; Borgini, Federica; Perri, Lucrezia; Iacoviello, Matteo; Piglionica, Marilidia; De Pellegrin, Maurizio; Ferrero, Giovanni Battista; Bartuli, Andrea; Zampino, Giuseppe; Buonuomo, Paola Sabrina; Resta, Nicoletta; Mussa, Alessandro
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Adult experiences in Beckwith-Wiedemann syndrome | 2023 | Drust, William A; Mussa, Alessandro; Gazzin, Andrea; Lapunzina, Pablo; Tenorio-Castaño, Jair; Nevado, Julian; Pascual, Patricia; Arias, Pedro; Parra, Alejandro; Getz, Kelly D; Kalish, Jennifer M | |
| Adult phenotype of Beckwith-Wiedemann syndrome | 2019 | Carli, D; Gazzin, A; Molinatto, C; Sirchia, F; Cardaropoli, S; Mussa, A; Ferrero, GB | |
| Chronic subdural hematoma: A previously unreported life-threatening complication in adult with Sotos syndrome | 2020 | Carli D.; Gazzin A.; Bongioanni M.R.; Bergui M.; Mussa A.; Ferrero G.B. | |
| 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 | |
| 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 | |
| Exploring New Drug Repurposing Opportunities for MEK Inhibitors in RASopathies: A Comprehensive Review of Safety, Efficacy, and Future Perspectives of Trametinib and Selumetinib | 2024 | Gazzin, Andrea; Fornari, Federico; Cardaropoli, Simona; Carli, Diana; Tartaglia, Marco; Ferrero, Giovanni Battista; Mussa, Alessandro | |
| Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis | 2024 | Dentici, Maria Lisa; Niceta, Marcello; Lepri, Francesca Romana; Mancini, Cecilia; Priolo, Manuela; Bonnard, Adeline Alice; Cappelletti, Camilla; Leoni, Chiara; Ciolfi, Andrea; Pizzi, Simone; Cordeddu, Viviana; Rossi, Cesare; Ferilli, Marco; Mucciolo, Mafalda; Colona, Vito Luigi; Fauth, Christine; Bellini, Melissa; Biasucci, Giacomo; Sinibaldi, Lorenzo; Briuglia, Silvana; Gazzin, Andrea; Carli, Diana; Memo, Luigi; Trevisson, Eva; Schiavariello, Concetta; Luca, Maria; Novelli, Antonio; Michot, Caroline; Sweertvaegher, Anne; Germanaud, David; Scarano, Emanuela; De Luca, Alessandro; Zampino, Giuseppe; Zenker, Martin; Mussa, Alessandro; Dallapiccola, Bruno; Cavé, Helene; Digilio, Maria Cristina; Tartaglia, Marco | |
| 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 | |
| Mulibrey nanism and immunological complications: a comprehensive case report and literature review | 2023 | Gazzin, Andrea; Pala, Francesca; Bosticardo, Marita; Niemela, Julie; Stoddard, Jennifer; Biasin, Eleonora; Quarello, Paola; Carli, Diana; Ferroni, Francesca; Delmonte, Ottavia M; Montin, Davide; Rosenzweig, Sergio D; Licciardi, Francesco; Notarangelo, Luigi D | |
| NBAS pathogenic variants: defining the associated clinical and facial phenotype and genotype-phenotype correlations | 2019 | Carli, Diana; Giorgio, Elisa; Pantaleoni, Francesca; Bruselles, Alessandro; Barresi, Sabina; Riberi, Evelise; Licciardi, Francesco; Gazzin, Andrea; Baldassarre, Giuseppina; Pizzi, Simone; Niceta, Marcello; Radio, Francesca Clementina; Molinatto, Cristina; Montin, Davide; Calvo, Pier Luigi; Ciolfi, Andrea; Fleischer, Nicole; Ferrero, Giovanni Battista; Brusco, Alfredo; Tartaglia, Marco | |
| Phenotype evolution and health issues of adult patients affected by Beckwith-Wiedemann Syndrome | 2018 | gazzin andrea, carli diana, molinatto cristina, cardaropoli simona, mussa alessandro, ferrero giovanni battista | |
| Phenotype evolution and health issues of adults with Beckwith-Wiedemann syndrome | 2019 | Gazzin A.; Carli D.; Sirchia F.; Molinatto C.; Cardaropoli S.; Palumbo G.; Zampino G.; Ferrero G.B.; Mussa A. | |
| Spatial tuning of electrophysiological responses to multisensory stimuli reveals a primitive coding of the body boundaries in newborns | 2021 | Ronga I.; Galigani M.; Bruno V.; Noel J.-P.; Gazzin A.; Perathoner C.; Serino A.; Garbarini F. | |
| Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith–Wiedemann locus | 2019 | Valente F.M.; Sparago A.; Freschi A.; Hill-Harfe K.; Maas S.M.; Frints S.G.M.; Alders M.; Pignata L.; Franzese M.; Angelini C.; Carli D.; Mussa A.; Gazzin A.; Gabbarini F.; Acurzio B.; Ferrero G.B.; Bliek J.; Williams C.A.; Riccio A.; Cerrato F. | |
| Work-Up and Treatment Strategies for Individuals with PIK3CA-Related Disorders: A Consensus of Experts from the Scientific Committee of the Italian Macrodactyly and PROS Association | 2023 | Gazzin, Andrea; Leoni, Chiara; Viscogliosi, Germana; Borgini, Federica; Perri, Lucrezia; Iacoviello, Matteo; Piglionica, Marilidia; De Pellegrin, Maurizio; Ferrero, Giovanni Battista; Bartuli, Andrea; Zampino, Giuseppe; Buonuomo, Paola Sabrina; Resta, Nicoletta; Mussa, Alessandro |