ZONTA, Andrea
ZONTA, Andrea
SCIENZE MEDICHE
A fetal case of microphthalmia and limb anomalies with abnormal neuronal migration associated with SMOC1 biallelic variants
2019-01-01 Mancini, Cecilia; Zonta, Andrea; Botta, Giovanni; Breda Klobus, Andrea; Valbonesi, Stefano; Pasini, Barbara; Giorgio, Elisa; Viora, Elsa; Brusco, Alfredo; Brussino, Alessandro
A novel case of congenital spinocerebellar ataxia 5: further support for a specific phenotype associated with the p.(Arg480Trp) variant in SPTBN2
2020-01-01 Zonta, Andrea; Brussino, Alessandro; Dentelli, Patrizia; Brusco, Alfredo
Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/Duplications
2015-01-01 Di Gregorio, Eleonora; Gai, Giorgia; Botta, Giovanni; Calcia, Alessandro; Pappi, Patrizia; Talarico, Flavia; Savin, Elisa; Ribotta, Marisa; Zonta, Andrea; Mancini, Cecilia; Giorgio, Elisa; Cavalieri, Simona; Restagno, Gabriella; Ferrero, Giovanni B; Viora, Elsa; Pasini, Barbara; Grosso, Enrico; Brusco, Alfredo; Brussino, Alessandro
Atypical microdeletion 22q11.2 in a patient with tetralogy of Fallot
2021-01-01 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
Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome)
2016-01-01 Micalizzi, Alessia; Poretti, Andrea; Romani, Marta; Ginevrino, Monia; Mazza, Tommaso; Aiello, Chiara; Zanni, Ginevra; Baumgartner, Bastian; Borgatti, Renato; Brockmann, Knut; Camacho, Ana; Cantalupo, Gaetano; Haeusler, Martin; Hikel, Christiane; Klein, Andrea; Mandrile, Giorgia; Mercuri, Eugenio; Rating, Dietz; Romaniello, Romina; Santorelli, Filippo Maria; Schimmel, Mareike; Spaccini, Luigina; Teber, Serap; Von Moers, Arpad; Wente, Sarah; Ziegler, Andreas; Zonta, Andrea; Bertini, Enrico; Boltshauser, Eugen; Valente, Enza Maria
Congenital Sensorineural Hearing Loss and Inborn Pigmentary Disorders: First Report of Multilocus Syndrome in Piebaldism
2019-01-01 Gironi, Laura Cristina; Colombo, Enrico; Brusco, Alfredo; Grosso, Enrico; Naretto, Valeria Giorgia; Guala, Andrea; Di Gregorio, Eleonora; Zonta, Andrea; Zottarelli, Francesca; Pasini, Barbara; Savoia, Paola
Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes
2017-01-01 DI GREGORIO, Eleonora; Riberi, Evelise; Belligni, ELGA FABIA; Biamino, Elisa; Spielmann, Malte; Ala, Ugo; Calcia, Alessandro; Bagnasco, Irene; Carli, Diana; Gai, Giorgia; Giordano, Mara; Guala, Andrea; Keller, Roberto; Mandrile, Giorgia; Arduino, Carlo; Maffè, Antonella; Naretto, VALERIA GIORGIA; Sirchia, Fabio; Sorasio, Lorena; Ungari, Silvana; Zonta, Andrea; Zacchetti, Giulia; Talarico, Flavia; Pappi, Patrizia; Cavalieri, Simona; Giorgio, Elisa; Mancini, Cecilia; Ferrero, Marta; Brussino, Alessandro; Savin, Elisa; Gandione, Marina; Pelle, Alessandra; Giachino, Daniela Francesca; DE MARCHI, Mario; Restagno, Gabriella; Provero, Paolo; Silengo, Margherita Cirillo; Grosso, Enrico; Buxbaum, Joseph D; Pasini, Barbara; De Rubeis, Silvia; Brusco, Alfredo; Ferrero, Giovanni Battista
Diagnosis of maternal Hodgkin lymphoma following abnormal findings at noninvasive prenatal screening test (NIPT): Report of two cases
2021-01-01 Castellino A.; Elba S.; Sorasio R.; Castellino C.; Bonferroni M.; Grasso M.; Grosso E.; Giacchello R.; Signorile A.F.; Celeghini I.; Mattei D.; Mordini N.; Foglietta M.; Masturzo B.; Priotto R.; Zonta A.; Rapezzi D.; Massaia M.
Family-based whole exome sequencing allows a 25% diagnostic yield in patients with autism spectrum disorder
2020-01-01 D Carli, E Giorgio, L Pavinato, E Riberi, P Dimartino, A Bruselles, S Cardaropoli, A Mussa, A Pelle, G Mandrile, V Antona, L Sorasio, E Biamino, EF Belligni, V Rizzo, F Sirchia, I Bagnasco, G Zacchetti, VG Naretto, G Gai, A Zonta, E Grosso, C Davico, R Keller, T Pippucci, M Tartaglia, S De Rubeis, A Brusco, GB Ferrero
Kcnk18 biallelic variants associated with intellectual disability and neurodevelopmental disorders alter tresk channel activity
2021-01-01 Pavinato L.; Nematian-Ardestani E.; Zonta A.; De Rubeis S.; Buxbaum J.; Mancini C.; Bruselles A.; Tartaglia M.; Pessia M.; Tucker S.J.; D'adamo M.C.; Brusco A.
Next-Generation Sequencing Advances the Genetic Diagnosis of Cerebral Cavernous Malformation (CCM)
2022-01-01 Benedetti, Valerio; Canzoneri, Rosalia; Perrelli, Andrea; Arduino, Carlo; Zonta, Andrea; Brusco, Alfredo; Retta, Saverio Francesco
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A fetal case of microphthalmia and limb anomalies with abnormal neuronal migration associated with SMOC1 biallelic variants | 2019 | Mancini, Cecilia; Zonta, Andrea; Botta, Giovanni; Breda Klobus, Andrea; Valbonesi, Stefano; Pasini, Barbara; Giorgio, Elisa; Viora, Elsa; Brusco, Alfredo; Brussino, Alessandro | |
| A novel case of congenital spinocerebellar ataxia 5: further support for a specific phenotype associated with the p.(Arg480Trp) variant in SPTBN2 | 2020 | Zonta, Andrea; Brussino, Alessandro; Dentelli, Patrizia; Brusco, Alfredo | |
| Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/Duplications | 2015 | Di Gregorio, Eleonora; Gai, Giorgia; Botta, Giovanni; Calcia, Alessandro; Pappi, Patrizia; Talarico, Flavia; Savin, Elisa; Ribotta, Marisa; Zonta, Andrea; Mancini, Cecilia; Giorgio, Elisa; Cavalieri, Simona; Restagno, Gabriella; Ferrero, Giovanni B; Viora, Elsa; Pasini, Barbara; Grosso, Enrico; Brusco, Alfredo; Brussino, Alessandro | |
| 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 | |
| Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome) | 2016 | Micalizzi, Alessia; Poretti, Andrea; Romani, Marta; Ginevrino, Monia; Mazza, Tommaso; Aiello, Chiara; Zanni, Ginevra; Baumgartner, Bastian; Borgatti, Renato; Brockmann, Knut; Camacho, Ana; Cantalupo, Gaetano; Haeusler, Martin; Hikel, Christiane; Klein, Andrea; Mandrile, Giorgia; Mercuri, Eugenio; Rating, Dietz; Romaniello, Romina; Santorelli, Filippo Maria; Schimmel, Mareike; Spaccini, Luigina; Teber, Serap; Von Moers, Arpad; Wente, Sarah; Ziegler, Andreas; Zonta, Andrea; Bertini, Enrico; Boltshauser, Eugen; Valente, Enza Maria | |
| Congenital Sensorineural Hearing Loss and Inborn Pigmentary Disorders: First Report of Multilocus Syndrome in Piebaldism | 2019 | Gironi, Laura Cristina; Colombo, Enrico; Brusco, Alfredo; Grosso, Enrico; Naretto, Valeria Giorgia; Guala, Andrea; Di Gregorio, Eleonora; Zonta, Andrea; Zottarelli, Francesca; Pasini, Barbara; Savoia, Paola | |
| Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes | 2017 | DI GREGORIO, Eleonora; Riberi, Evelise; Belligni, ELGA FABIA; Biamino, Elisa; Spielmann, Malte; Ala, Ugo; Calcia, Alessandro; Bagnasco, Irene; Carli, Diana; Gai, Giorgia; Giordano, Mara; Guala, Andrea; Keller, Roberto; Mandrile, Giorgia; Arduino, Carlo; Maffè, Antonella; Naretto, VALERIA GIORGIA; Sirchia, Fabio; Sorasio, Lorena; Ungari, Silvana; Zonta, Andrea; Zacchetti, Giulia; Talarico, Flavia; Pappi, Patrizia; Cavalieri, Simona; Giorgio, Elisa; Mancini, Cecilia; Ferrero, Marta; Brussino, Alessandro; Savin, Elisa; Gandione, Marina; Pelle, Alessandra; Giachino, Daniela Francesca; DE MARCHI, Mario; Restagno, Gabriella; Provero, Paolo; Silengo, Margherita Cirillo; Grosso, Enrico; Buxbaum, Joseph D; Pasini, Barbara; De Rubeis, Silvia; Brusco, Alfredo; Ferrero, Giovanni Battista | |
| Diagnosis of maternal Hodgkin lymphoma following abnormal findings at noninvasive prenatal screening test (NIPT): Report of two cases | 2021 | Castellino A.; Elba S.; Sorasio R.; Castellino C.; Bonferroni M.; Grasso M.; Grosso E.; Giacchello R.; Signorile A.F.; Celeghini I.; Mattei D.; Mordini N.; Foglietta M.; Masturzo B.; Priotto R.; Zonta A.; Rapezzi D.; Massaia M. | |
| Family-based whole exome sequencing allows a 25% diagnostic yield in patients with autism spectrum disorder | 2020 | D Carli, E Giorgio, L Pavinato, E Riberi, P Dimartino, A Bruselles, S Cardaropoli, A Mussa, A Pelle, G Mandrile, V Antona, L Sorasio, E Biamino, EF Belligni, V Rizzo, F Sirchia, I Bagnasco, G Zacchetti, VG Naretto, G Gai, A Zonta, E Grosso, C Davico, R Keller, T Pippucci, M Tartaglia, S De Rubeis, A Brusco, GB Ferrero | |
| Kcnk18 biallelic variants associated with intellectual disability and neurodevelopmental disorders alter tresk channel activity | 2021 | Pavinato L.; Nematian-Ardestani E.; Zonta A.; De Rubeis S.; Buxbaum J.; Mancini C.; Bruselles A.; Tartaglia M.; Pessia M.; Tucker S.J.; D'adamo M.C.; Brusco A. | |
| Next-Generation Sequencing Advances the Genetic Diagnosis of Cerebral Cavernous Malformation (CCM) | 2022 | Benedetti, Valerio; Canzoneri, Rosalia; Perrelli, Andrea; Arduino, Carlo; Zonta, Andrea; Brusco, Alfredo; Retta, Saverio Francesco |