ZUFFARDI, ORSETTA
ZUFFARDI, ORSETTA
Prenatal Noninvasive Trio-WES in a Case of Pregnancy-Related Liver Disorder
2021-01-01 Provenzano, Aldesia; Farina, Antonio; Seidenari, Anna; Azzaroli, Francesco; Serra, Carla; Della Gatta, Anna; Zuffardi, Orsetta; Giglio, Sabrina Rita
Assigning single clinical features to their disease-locus in large deletions: the example of chromosome 1q23-25 deletion syndrome
2020-01-01 Fichera, Marco; Saccuzzo, Lucia; Bertuzzo, Sara; Marelli, Susan; Cavallini, Anna; Romaniello, Romina; Kocova, Mirjana; Citterio, Andrea; Fanizza, Isabella; Trabacca, Antonio; Pagliazzi, Angelica; Guarducci, Silvia; Giglio, Sabrina; Zuffardi, Orsetta; Bonaglia, Maria Clara
MCM5: A new actor in the link between DNA replication and Meier-Gorlin syndrome
2017-01-01 Vetro, Annalisa; Savasta, Salvatore; RUSSO RAUCCI, Annalisa; Cerqua, Cristina; Sartori, Geppo; Limongelli, Ivan; Forlino, Antonella; Maruelli, Silvia; Perucca, Paola; Vergani, Debora; Mazzini, Giuliano; Mattevi, Andrea; Stivala, LUCIA ANNA; Salviati, Leonardo; Zuffardi, Orsetta
Dravet phenotype in a subject with a der(4)t(4;8)(p16.3;p23.3) without the involvement of the LETM1 gene
2013-01-01 Bayindir, Baran; Piazza, Elena; Della Mina, Erika; Limongelli, Ivan; Brustia, Francesca; Ciccone, Roberto; Veggiotti, Pierangelo; Zuffardi, Orsetta; Dehghani, Mohammed Reza
Idiopathic central precocious puberty associated with 11 mb de novo distal deletion of the chromosome 9 short arm
2013-01-01 Cisternino, Mariangela; Della Mina, Erika; Losa, Laura; Madè, Alexandra; Rossetti, Giulia; Bassi, Lorenzo Andrea; Pieri, Giovanni; Bayindir, Baran; Messa, Jole; Zuffardi, Orsetta; Ciccone, Roberto
Familian traslocation t(3;10)(p26.3;p12.31)leading to trisomy 10p12.31..pter and monosomy 3p26.3..pter in seven members
2008-01-01 Nucaro, Al1; Meloni, M; Pisano, T; Melis, P; Rossi, E; Rossino, R; Corona, S; Loi, M; Achena, F; Zuffardi, Orsetta; Cianchetti, C.
| Titolo | Data di pubblicazione | Autore(i) | Rivista | Editore |
|---|---|---|---|---|
| Prenatal Noninvasive Trio-WES in a Case of Pregnancy-Related Liver Disorder | 1-gen-2021 | Provenzano, Aldesia; Farina, Antonio; Seidenari, Anna; Azzaroli, Francesco; Serra, Carla; Della Gatta, Anna; Zuffardi, Orsetta; Giglio, Sabrina Rita | DIAGNOSTICS | - |
| Assigning single clinical features to their disease-locus in large deletions: the example of chromosome 1q23-25 deletion syndrome | 1-gen-2020 | Fichera, Marco; Saccuzzo, Lucia; Bertuzzo, Sara; Marelli, Susan; Cavallini, Anna; Romaniello, Romina; Kocova, Mirjana; Citterio, Andrea; Fanizza, Isabella; Trabacca, Antonio; Pagliazzi, Angelica; Guarducci, Silvia; Giglio, Sabrina; Zuffardi, Orsetta; Bonaglia, Maria Clara | JOURNAL OF TRANSLATIONAL GENETICS AND GENOMICS | - |
| MCM5: A new actor in the link between DNA replication and Meier-Gorlin syndrome | 1-gen-2017 | Vetro, Annalisa; Savasta, Salvatore; RUSSO RAUCCI, Annalisa; Cerqua, Cristina; Sartori, Geppo; Limongelli, Ivan; Forlino, Antonella; Maruelli, Silvia; Perucca, Paola; Vergani, Debora; Mazzini, Giuliano; Mattevi, Andrea; Stivala, LUCIA ANNA; Salviati, Leonardo; Zuffardi, Orsetta | EUROPEAN JOURNAL OF HUMAN GENETICS | - |
| Dravet phenotype in a subject with a der(4)t(4;8)(p16.3;p23.3) without the involvement of the LETM1 gene | 1-gen-2013 | Bayindir, Baran; Piazza, Elena; Della Mina, Erika; Limongelli, Ivan; Brustia, Francesca; Ciccone, Roberto; Veggiotti, Pierangelo; Zuffardi, Orsetta; Dehghani, Mohammed Reza | EUROPEAN JOURNAL OF MEDICAL GENETICS | - |
| Idiopathic central precocious puberty associated with 11 mb de novo distal deletion of the chromosome 9 short arm | 1-gen-2013 | Cisternino, Mariangela; Della Mina, Erika; Losa, Laura; Madè, Alexandra; Rossetti, Giulia; Bassi, Lorenzo Andrea; Pieri, Giovanni; Bayindir, Baran; Messa, Jole; Zuffardi, Orsetta; Ciccone, Roberto | CASE REPORTS IN GENETICS | - |
| Familian traslocation t(3;10)(p26.3;p12.31)leading to trisomy 10p12.31..pter and monosomy 3p26.3..pter in seven members | 1-gen-2008 | Nucaro, Al1; Meloni, M; Pisano, T; Melis, P; Rossi, E; Rossino, R; Corona, S; Loi, M; Achena, F; Zuffardi, Orsetta; Cianchetti, C. | AMERICAN JOURNAL OF MEDICAL GENETICS. PART A | - |