ZONTA, ANDREA
ZONTA, ANDREA
A novel synonymous mutation in the MPZ gene causing an aberrant splicing pattern and Charcot-Marie-Tooth disease type 1b
2016-01-01 Corrado, Lucia; Magri, S; Bagarotti, Alessandra; Carecchio, Miryam; Piscosquito, G; Pareyson, D; Varrasi, C; Vecchio, D; Zonta, Andrea; Cantello, Roberto; Taroni, F; D'Alfonso, Sandra
CNVs analysis in a cohort of isolated and syndromic DD/ID 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
Genentic insights in nevoid basal cell carcinoma syndrome: Clinical and genetic findings of the unique case with a non-coding germline mutation in the 5?utr of PTCH1 gene
2017-01-01 Gironi, Laura Cristina; Zottarelli, Francesca; Graziani, D; Zonta, Andrea; Farinelli, Pamela; Giorgione, Roberto; Zavattaro, Elisa; Landucci, Gianluca; Colombo, Enrico; Savoia, Paola
Testing for the cytosine insertion in the VNTR of the MUC1 gene in a cohort of Italian patients with autosomal dominant tubulointerstitial kidney disease
2016-01-01 Musetti, Claudio; Babu, Deepak; Fusco, Ileana; Mellone, Simona; Zonta, Andrea; Quaglia, Marco; Cantaluppi, Vincenzo; Stratta, Piero; Giordano, Mara
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A novel synonymous mutation in the MPZ gene causing an aberrant splicing pattern and Charcot-Marie-Tooth disease type 1b | 1-gen-2016 | Corrado, Lucia; Magri, S; Bagarotti, Alessandra; Carecchio, Miryam; Piscosquito, G; Pareyson, D; Varrasi, C; Vecchio, D; Zonta, Andrea; Cantello, Roberto; Taroni, F; D'Alfonso, Sandra | |
| CNVs analysis in a cohort of isolated and syndromic DD/ID reveals novel genomic disorders, position effects and candidate disease genes | 1-gen-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 | |
| Genentic insights in nevoid basal cell carcinoma syndrome: Clinical and genetic findings of the unique case with a non-coding germline mutation in the 5?utr of PTCH1 gene | 1-gen-2017 | Gironi, Laura Cristina; Zottarelli, Francesca; Graziani, D; Zonta, Andrea; Farinelli, Pamela; Giorgione, Roberto; Zavattaro, Elisa; Landucci, Gianluca; Colombo, Enrico; Savoia, Paola | |
| Testing for the cytosine insertion in the VNTR of the MUC1 gene in a cohort of Italian patients with autosomal dominant tubulointerstitial kidney disease | 1-gen-2016 | Musetti, Claudio; Babu, Deepak; Fusco, Ileana; Mellone, Simona; Zonta, Andrea; Quaglia, Marco; Cantaluppi, Vincenzo; Stratta, Piero; Giordano, Mara |