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MUSSA, Alessandro

MUSSA, Alessandro  

SCIENZE DELLA SANITA' PUBBLICA E PEDIATRICHE  

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(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 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.
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
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
Atypical microdeletion 22q11.2 in a patient with tetralogy of Fallot 2021 Carli, Diana; Moroni, Alice; Eleonora, Di Gregorio; Zonta, Andrea; Montin, Davide; Licciardi, Francesco; Aidala, Enrico; Bordese, Roberto; Carlo, Pace Napoleone; Brusco, Alfredo; Giovanni Battista, Ferrero; Mussa, Alessandro
Beckwith-Wiedemann Syndrome Negligible Effects on Tumor Risk Associated with in Vitro Fertilization 2019 Carli D.; Ferrero G.B.; Mussa A.
Bone alterations in children and young adults with renal transplant assessed by phalangeal quantitative ultrasound. 2007 Mussa, Alessandro; Porta, Francesco; Gianoglio, Bruno; Gaido, Maurizio; Nicolosi, Mario Guido; De Terlizzi, Francesca; de Sanctis, Carlo; Coppo, Rosanna
Bone impairment in phenylketonuria is characterized by circulating osteoclast precursors and activated T cell increase. 2010 Roato I; Porta F; Mussa A; D'Amico L; Fiore L; Garelli D; Spada M; Ferracini R.
Bone quantitative ultrasound in congenital and acquired childhood multiple pituitary failure. 2010 Mussa A; Repici M; Fiore L; Tuli G; Porta F; Matarazzo P.