MUSSA, Alessandro
MUSSA, Alessandro
SCIENZE DELLA SANITA' PUBBLICA E PEDIATRICHE
'Knowing and Treating Kosaki/Penttinen syndrome' international collaborative consortium: recommendations for follow-up, natural history and a real-life observational study about safety and efficacy profile of tyrosine kinase inhibitors
2025-01-01 Bouhatous, Yordi-Michaël; Bredrup, Cecilie; Maurer, Agnes; Mirakovska, Liubinka; Foster, Alison; Kosaki, Kenjiro; Jost, Céline; Demoulin, Jean-Baptiste; Luu, Maxime; Vabres, Pierre; Kurtz, Jean-Emmanuel; Schaefer, Elise; Guimier, Anne; Cormier-Daire, Valerie; Lim, Derek; Thompson, Sarah; Olson, Lorin; Kwon, Hae Ryong; Aguirre-Rodriguez, Cristina; Hernandez-Dorronsoro, Unai; Martinez-Soroa, Itziar; Iznardo, Helena; Mascaró, José-Manuel; Baselga, Eulalia; Kalantari, Silvia; Mussa, Alessandro; Gazzin, Andrea; Carli, Diana; Svinvik, Ingrid; Mutlu-Albayrak, Hatice; Bluefeather, Sarah; Zarate, Yuri; Takenouchi, Toshiki; Naicker, Thirona; Chateau, Antoinette; Gokhul, Ashmika; Dube-Pule, Anele; Haniffa, Muzhirah; Ong Peitee, Winnie; Nordgren, Ann; Carpentier, Maud; Binquet, Christine; Briffaut, Anne-Sophie; Bal, Laurence; Pond, Dinel; Rustad, Cecilie F; Bardou, Marc; Faivre, Laurence
(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome
2016-01-01 Mussa, Alessandro; Russo, Silvia; De Crescenzo, Agostina; Freschi, Andrea; Calzari, Luciano; Maitz, Silvia; Macchiaiolo, Marina; Molinatto, Cristina; Baldassarre, Giuseppina; Mariani, Milena; Tarani, Luigi; Bedeschi, Maria Francesca; Milani, Donatella; Melis, Daniela; Bartuli, Andrea; Cubellis, Maria Vittoria; Selicorni, Angelo; Cirillo Silengo, Margherita; Larizza, Lidia; Riccio, Andrea; Ferrero, Giovanni Battista
(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome: A paradigm for genomic medicine
2016-01-01 Mussa, A.; Russo, S.; Larizza, L.; Riccio, A.; Ferrero, G.B
[Congenital hypopituitarism in agenesis of the anterior pituitary gland: immediate management and follow-up].
2006-01-01 Mussa A;Porta F;Baldassarre G;Corrias A;Bellone J;de Sanctis C
A COMPARISON BETWEEN SIMPLE PHE AND COMBINED PHE+BH4 LOADING TEST IN PHENYLKETONURIA
2006-01-01 PORTA F; ALLUTO A; MUSSA A; SPADA M; A. PONZONE
A Genomic Sequencing Approach to Newborn Mass Screening and Its Opportunities
2025-01-01 Carli, Diana; Quarello, Paola; Porta, Francesco; Cagnazzo, Celeste; Zucchetti, Giulia; Proto, Camilla Francesca; Gianasso, Rebecca; Biamino, Elisa; Carbonara, Caterina; Coscia, Alessandra; Parlato, Caterina; Fenoglio, Beatrice; Guarrera, Simonetta; Spada, Marco; Mussa, Alessandro; Minucci, Saverio; Fagioli, Franca
A Genomic Sequencing Approach to Newborn Mass Screening and Its Opportunities
2025-01-01 Carli, Diana; Quarello, Paola; Porta, Francesco; Cagnazzo, Celeste; Zucchetti, Giulia; Proto, Camilla Francesca; Gianasso, Rebecca; Biamino, Elisa; Carbonara, Caterina; Coscia, Alessandra; Parlato, Caterina; Fenoglio, Beatrice; Guarrera, Simonetta; Spada, Marco; Mussa, Alessandro; Minucci, Saverio; Fagioli, Franca
A heritable cause of cleft lip and palate-Van der Woude syndrome caused by a novel IRF6 mutation. Review of the literature and of the differential diagnosis.
2010-01-01 Ferrero GB; Baldassarre G; Panza E; Valenzise M; Pippucci T; Mussa A; Pepe E; Seri M; Silengo MC
a microduplication of the centromeric domain of the 11p15.5 impirnted gene cluster is associated with loss of DNA methylation and familial BWS.
2010-01-01 Chiesa N; De Crescenzo N; Mussa A; Baldassarre G; Perone L; Carella M; Cirillo Silengo M; Riccio A; Ferrero GB
A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver–Russell and Beckwith–Wiedemann syndromes
2016-01-01 Russo, Silvia; Calzari, Luciano; Mussa, Alessandro; Mainini, Ester; Cassina, Matteo; Di Candia, Stefania; Clementi, Maurizio; Guzzetti, Sara; Tabano, Silvia; Miozzo, Monica; Sirchia, Silvia; Finelli, Palma; Prontera, Paolo; Maitz, Silvia; Sorge, Giovanni; Calcagno, Annalisa; Maghnie, Mohamad; Divizia, Maria Teresa; Melis, Daniela; Manfredini, Emanuela; Ferrero, Giovanni Battista; Pecile, Vanna; Larizza, Lidia
A new case of Smith-Kingsmore syndrome with somatic MTOR pathogenic variant expands the phenotypic spectrum to lateralized overgrowth
2021-01-01 Carli D.; Ferrero G.B.; Fusillo A.; Coppo P.; La Selva R.; Zinali F.; Cardaropoli S.; Ranieri C.; Iacoviello M.; Resta N.; Mussa A.
A potential dual CAPRIN1/HDAC8 neurodevelopmental disorder case: the importance of periodic ES re-analysis
2024-01-01 S. Cardaropoli, V.G. Naretto, S. Trajkova, V. Rallo, M. Massidda, L. Pavinato, V. Pullano, S. Rizzo, F. Pintus, C. Leso, A. Aulino, M. Iacomino, P. Uva, A. Mussa, B. Pasini, F. Zara, A. Puliti, A. Angius, G.B. Ferrero, A. Brusco
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
Advancing Neuropediatric Rare Disease Diagnosis Through Clinical Genome Sequencing
2026-01-01 Sirchia, Fabio; Kalantari, Silvia; Carli, Diana; Zadorozhna, Mariia; Bassanese, Francesco; Thorpe Venti, Erin; Taft, Ryan J; Kesari, Akanchha; Sorasio, Lorena; Antona, Vincenzo; Guala, Andrea; Feresin, Agnese; Basile, Anna; Licciardi, Francesco; Garau, Jessica; Gasparini, Paolo; Grosso, Enrico; Mussa, Alessandro; Ferrero, Giovanni Battista; Brusco, Alfredo; Giorgio, Elisa
Alpha-fetoprotein assay on dried blood spot for hepatoblastoma screening in children with overgrowth-cancer predisposition syndromes.
2014-01-01 Mussa A; Pagliardini S; Pagliardini V; Molinatto C; Baldassarre G; Corrias A; Silengo MC; Ferrero GB.
Analisi molecolare e caratteristiche cliniche di 42 pazienti con sindrome di Beckwith e quadri correlati
2007-01-01 ferrero GB; Mussa A; Biamino E; Molinatto C; Pepe E; Bianchi M; Riccio A; Silengo M
Assessment of central adrenal insufficiency in children and adolescents with Prader-Willi syndrome
2012-01-01 Corrias, Andrea; Grugni, Graziano; Crinò, Antonino; Di Candia, Stefania; Chiabotto, Patrizia; Cogliardi, Anna; Chiumello, Giuseppe; De Medici, Clotilde; Spera, Sabrina; Gargantini, Luigi; Iughetti, Lorenzo; Luce, Antonella; Mariani, Benedetta; Ragusa, Letizia; Salvatoni, Alessandro; Andrulli, Simeone; Mussa, Alessandro; Beccaria, Luciano
Assisted reproduction techniques and prenatal diagnosis of Beckwith-Wiedemann spectrum presenting with omphalocele
2018-01-01 Mussa, Alessandro; Carli, Diana; Cardaropoli, Simona; Molinatto, Cristina; Ferrero, Giovanni Battista
Assisted Reproductive Techniques and Risk of Beckwith-Wiedemann Syndrome
2017-01-01 Mussa, Alessandro; Molinatto, Cristina; Cerrato, Flavia; Palumbo, Orazio; Carella, Massimo; Baldassarre, Giuseppina; Carli, Diana; Peris, Clementina; Riccio, Andrea; Ferrero, Giovanni Battista
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| 'Knowing and Treating Kosaki/Penttinen syndrome' international collaborative consortium: recommendations for follow-up, natural history and a real-life observational study about safety and efficacy profile of tyrosine kinase inhibitors | 2025 | Bouhatous, Yordi-Michaël; Bredrup, Cecilie; Maurer, Agnes; Mirakovska, Liubinka; Foster, Alison; Kosaki, Kenjiro; Jost, Céline; Demoulin, Jean-Baptiste; Luu, Maxime; Vabres, Pierre; Kurtz, Jean-Emmanuel; Schaefer, Elise; Guimier, Anne; Cormier-Daire, Valerie; Lim, Derek; Thompson, Sarah; Olson, Lorin; Kwon, Hae Ryong; Aguirre-Rodriguez, Cristina; Hernandez-Dorronsoro, Unai; Martinez-Soroa, Itziar; Iznardo, Helena; Mascaró, José-Manuel; Baselga, Eulalia; Kalantari, Silvia; Mussa, Alessandro; Gazzin, Andrea; Carli, Diana; Svinvik, Ingrid; Mutlu-Albayrak, Hatice; Bluefeather, Sarah; Zarate, Yuri; Takenouchi, Toshiki; Naicker, Thirona; Chateau, Antoinette; Gokhul, Ashmika; Dube-Pule, Anele; Haniffa, Muzhirah; Ong Peitee, Winnie; Nordgren, Ann; Carpentier, Maud; Binquet, Christine; Briffaut, Anne-Sophie; Bal, Laurence; Pond, Dinel; Rustad, Cecilie F; Bardou, Marc; Faivre, Laurence | |
| (Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome | 2016 | Mussa, Alessandro; Russo, Silvia; De Crescenzo, Agostina; Freschi, Andrea; Calzari, Luciano; Maitz, Silvia; Macchiaiolo, Marina; Molinatto, Cristina; Baldassarre, Giuseppina; Mariani, Milena; Tarani, Luigi; Bedeschi, Maria Francesca; Milani, Donatella; Melis, Daniela; Bartuli, Andrea; Cubellis, Maria Vittoria; Selicorni, Angelo; Cirillo Silengo, Margherita; Larizza, Lidia; Riccio, Andrea; Ferrero, Giovanni Battista | |
| (Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome: A paradigm for genomic medicine | 2016 | Mussa, A.; Russo, S.; Larizza, L.; Riccio, A.; Ferrero, G.B | |
| [Congenital hypopituitarism in agenesis of the anterior pituitary gland: immediate management and follow-up]. | 2006 | Mussa A;Porta F;Baldassarre G;Corrias A;Bellone J;de Sanctis C | |
| A COMPARISON BETWEEN SIMPLE PHE AND COMBINED PHE+BH4 LOADING TEST IN PHENYLKETONURIA | 2006 | PORTA F; ALLUTO A; MUSSA A; SPADA M; A. PONZONE | |
| A Genomic Sequencing Approach to Newborn Mass Screening and Its Opportunities | 2025 | Carli, Diana; Quarello, Paola; Porta, Francesco; Cagnazzo, Celeste; Zucchetti, Giulia; Proto, Camilla Francesca; Gianasso, Rebecca; Biamino, Elisa; Carbonara, Caterina; Coscia, Alessandra; Parlato, Caterina; Fenoglio, Beatrice; Guarrera, Simonetta; Spada, Marco; Mussa, Alessandro; Minucci, Saverio; Fagioli, Franca | |
| A Genomic Sequencing Approach to Newborn Mass Screening and Its Opportunities | 2025 | Carli, Diana; Quarello, Paola; Porta, Francesco; Cagnazzo, Celeste; Zucchetti, Giulia; Proto, Camilla Francesca; Gianasso, Rebecca; Biamino, Elisa; Carbonara, Caterina; Coscia, Alessandra; Parlato, Caterina; Fenoglio, Beatrice; Guarrera, Simonetta; Spada, Marco; Mussa, Alessandro; Minucci, Saverio; Fagioli, Franca | |
| A heritable cause of cleft lip and palate-Van der Woude syndrome caused by a novel IRF6 mutation. Review of the literature and of the differential diagnosis. | 2010 | Ferrero GB; Baldassarre G; Panza E; Valenzise M; Pippucci T; Mussa A; Pepe E; Seri M; Silengo MC | |
| a microduplication of the centromeric domain of the 11p15.5 impirnted gene cluster is associated with loss of DNA methylation and familial BWS. | 2010 | Chiesa N; De Crescenzo N; Mussa A; Baldassarre G; Perone L; Carella M; Cirillo Silengo M; Riccio A; Ferrero GB | |
| A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver–Russell and Beckwith–Wiedemann syndromes | 2016 | Russo, Silvia; Calzari, Luciano; Mussa, Alessandro; Mainini, Ester; Cassina, Matteo; Di Candia, Stefania; Clementi, Maurizio; Guzzetti, Sara; Tabano, Silvia; Miozzo, Monica; Sirchia, Silvia; Finelli, Palma; Prontera, Paolo; Maitz, Silvia; Sorge, Giovanni; Calcagno, Annalisa; Maghnie, Mohamad; Divizia, Maria Teresa; Melis, Daniela; Manfredini, Emanuela; Ferrero, Giovanni Battista; Pecile, Vanna; Larizza, Lidia | |
| A new case of Smith-Kingsmore syndrome with somatic MTOR pathogenic variant expands the phenotypic spectrum to lateralized overgrowth | 2021 | Carli D.; Ferrero G.B.; Fusillo A.; Coppo P.; La Selva R.; Zinali F.; Cardaropoli S.; Ranieri C.; Iacoviello M.; Resta N.; Mussa A. | |
| A potential dual CAPRIN1/HDAC8 neurodevelopmental disorder case: the importance of periodic ES re-analysis | 2024 | S. Cardaropoli, V.G. Naretto, S. Trajkova, V. Rallo, M. Massidda, L. Pavinato, V. Pullano, S. Rizzo, F. Pintus, C. Leso, A. Aulino, M. Iacomino, P. Uva, A. Mussa, B. Pasini, F. Zara, A. Puliti, A. Angius, G.B. Ferrero, A. Brusco | |
| 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 | |
| Advancing Neuropediatric Rare Disease Diagnosis Through Clinical Genome Sequencing | 2026 | Sirchia, Fabio; Kalantari, Silvia; Carli, Diana; Zadorozhna, Mariia; Bassanese, Francesco; Thorpe Venti, Erin; Taft, Ryan J; Kesari, Akanchha; Sorasio, Lorena; Antona, Vincenzo; Guala, Andrea; Feresin, Agnese; Basile, Anna; Licciardi, Francesco; Garau, Jessica; Gasparini, Paolo; Grosso, Enrico; Mussa, Alessandro; Ferrero, Giovanni Battista; Brusco, Alfredo; Giorgio, Elisa | |
| Alpha-fetoprotein assay on dried blood spot for hepatoblastoma screening in children with overgrowth-cancer predisposition syndromes. | 2014 | Mussa A; Pagliardini S; Pagliardini V; Molinatto C; Baldassarre G; Corrias A; Silengo MC; Ferrero GB. | |
| Analisi molecolare e caratteristiche cliniche di 42 pazienti con sindrome di Beckwith e quadri correlati | 2007 | ferrero GB; Mussa A; Biamino E; Molinatto C; Pepe E; Bianchi M; Riccio A; Silengo M | |
| Assessment of central adrenal insufficiency in children and adolescents with Prader-Willi syndrome | 2012 | Corrias, Andrea; Grugni, Graziano; Crinò, Antonino; Di Candia, Stefania; Chiabotto, Patrizia; Cogliardi, Anna; Chiumello, Giuseppe; De Medici, Clotilde; Spera, Sabrina; Gargantini, Luigi; Iughetti, Lorenzo; Luce, Antonella; Mariani, Benedetta; Ragusa, Letizia; Salvatoni, Alessandro; Andrulli, Simeone; Mussa, Alessandro; Beccaria, Luciano | |
| Assisted reproduction techniques and prenatal diagnosis of Beckwith-Wiedemann spectrum presenting with omphalocele | 2018 | Mussa, Alessandro; Carli, Diana; Cardaropoli, Simona; Molinatto, Cristina; Ferrero, Giovanni Battista | |
| Assisted Reproductive Techniques and Risk of Beckwith-Wiedemann Syndrome | 2017 | Mussa, Alessandro; Molinatto, Cristina; Cerrato, Flavia; Palumbo, Orazio; Carella, Massimo; Baldassarre, Giuseppina; Carli, Diana; Peris, Clementina; Riccio, Andrea; Ferrero, Giovanni Battista |