Sfoglia per Autore
Loss-of-function FANCL mutations associate with severe fanconi anemia overlapping the VACTERL association
2015-01-01 Vetro, Annalisa; Iascone, Maria; Limongelli, Ivan; Ameziane, Najim; Gana, Simone; Mina, Erika Della; Giussani, Ursula; Ciccone, Roberto; Forlino, Antonella; Pezzoli, Laura; Rooimans, Martin A.; van Essen, Antoni J.; Messa, Jole; Rizzuti, Tommaso; Bianchi, PAOLO EMILIO; Dorsman, Josephine; de Winter, Johan P.; Lalatta, Faustina; Zuffardi, Orsetta
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform
2015-01-01 Mina, E. D.; Ciccone, R.; Brustia, F.; Bayindir, B.; Limongelli, I.; Vetro, A.; Iascone, M.; Pezzoli, L.; Bellazzi, R.; Perotti, G.; De Giorgis, V.; Lunghi, S.; Coppola, G.; Orcesi, S.; Merli, P.; Savasta, S.; Veggiotti, P.; Zuffardi, O.
APC rearrangements in familial adenomatous polyposis: heterogeneity of deletion lengths and breakpoint sequences underlies similar phenotypes
2015-01-01 Marialuisa, Quadri; Vetro, Annalisa; Viviana, Gismondi; Marabelli, Monica; Lucio, Bertario; Paola, Sala; Liliana, Varesco; Zuffardi, Orsetta; Ranzani, Guglielmina
Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association
2015-01-01 Vetro, Annalisa; Iascone, Maria; Limongelli, Ivan; Ameziane, Najim; Gana, Simone; DELLA MINA, Erika; Giussani, Ursula; Ciccone, Roberto; Forlino, Antonella; Pezzoli, Laura; Rooimans, Martin A; van Essen, Antoni J; Messa, Jole; Rizzuti, Tommaso; Bianchi, PAOLO EMILIO; Dorsman, Josephine; de Winter, Johan P; Lalatta, Faustina; Zuffardi, Orsetta
Complex rearrangement involving three chromosomes, four breakpoints and a 2.7-Mb deletion in the 18q segment observed in a girl with mild learning difficulties
2016-01-01 Kontodiou, M. 1; Daskalakis, G; Vetro, Annalisa; Paspaliaris, V.; Papaioannou, G; Dagklis, T; Tsakiridis, I; Ziegler, MARTIN BURKHARD ANDREAS; Liehr, Thomas; Thomaidis, L; Papoulidis, I; Manolakos,
A Data Fusion Approach to Enhance Association Study in Epilepsy
2016-01-01 Marini, Simone; Limongelli, Ivan; Rizzo, Ettore; Malovini, ALBERTO LUIGI; Errichiello, Edoardo; Vetro, Annalisa; Da, Tan; Zuffardi, Orsetta; Bellazzi, Riccardo
A novel APC promoter 1B deletion shows a founder effect in Italian patients with classical familial adenomatous polyposis phenotype
2017-01-01 Marabelli, Monica; Gismondi, Viviana; Ricci, Maria Teresa; Vetro, Annalisa; ABOU KHOUZAM, Raefa; Rea, Valentina; Vitellaro, Marco; Zuffardi, Orsetta; Varesco, Liliana; Ranzani, Guglielmina
Whole exome sequencing in the differential diagnosis of Diamond-Blackfan anemia: Clinical and molecular study of three patients with novel RPL5 and mosaic RPS19 mutations
2017-01-01 Errichiello, E; Vetro, A; Mina, T; Wischmeijer, A; Berrino, E; Carella, Miriam; Romagnoli, M; Sacchini, P; Venesio, T; Zecca, M; Zuffardi, O
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
SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type
2017-01-01 Errichiello, Edoardo; Mustafa, NOOR HUSSEIN MOHAMMAD; Vetro, Annalisa; Notarangelo, Lucia Dora; DE JONGE, Hugo; Rinaldi, Berardo; Vergani, Debora; Giglio, SABRINA RITA; Morbini, Patrizia; Zuffardi, Orsetta
Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH
2018-01-01 Vetro, Annalisa; Goidin, D.; Lesende, I.; Limongelli, Ivan; Ranzani, Guglielmina; Novara, Francesca; Bonaglia, M. C.; Rinaldi, Berardo; Franchi, F.; Manolakos, E.; Lonardo, F.; Scarano, F.; Scarano, G.; Costantino, L.; Tedeschi, S.; Giglio, S.; Zuffardi, Orsetta
PIEZO1 Hypomorphic Variants in Congenital Lymphatic Dysplasia Cause Shape and Hydration Alterations of Red Blood Cells
2019-01-01 Andolfo, Immacolata; De Rosa, Gianluca; Errichiello, Edoardo; Manna, Francesco; Rosato, Barbara Eleni; Gambale, Antonella; Vetro, Annalisa; Calcaterra, Valeria; Pelizzo, Gloria; De Franceschi, Lucia; Zuffardi, Orsetta; Russo, Roberta; Iolascon, Achille
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Loss-of-function FANCL mutations associate with severe fanconi anemia overlapping the VACTERL association | 1-gen-2015 | Vetro, Annalisa; Iascone, Maria; Limongelli, Ivan; Ameziane, Najim; Gana, Simone; Mina, Erika Della; Giussani, Ursula; Ciccone, Roberto; Forlino, Antonella; Pezzoli, Laura; Rooimans, Martin A.; van Essen, Antoni J.; Messa, Jole; Rizzuti, Tommaso; Bianchi, PAOLO EMILIO; Dorsman, Josephine; de Winter, Johan P.; Lalatta, Faustina; Zuffardi, Orsetta | |
| Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform | 1-gen-2015 | Mina, E. D.; Ciccone, R.; Brustia, F.; Bayindir, B.; Limongelli, I.; Vetro, A.; Iascone, M.; Pezzoli, L.; Bellazzi, R.; Perotti, G.; De Giorgis, V.; Lunghi, S.; Coppola, G.; Orcesi, S.; Merli, P.; Savasta, S.; Veggiotti, P.; Zuffardi, O. | |
| APC rearrangements in familial adenomatous polyposis: heterogeneity of deletion lengths and breakpoint sequences underlies similar phenotypes | 1-gen-2015 | Marialuisa, Quadri; Vetro, Annalisa; Viviana, Gismondi; Marabelli, Monica; Lucio, Bertario; Paola, Sala; Liliana, Varesco; Zuffardi, Orsetta; Ranzani, Guglielmina | |
| Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association | 1-gen-2015 | Vetro, Annalisa; Iascone, Maria; Limongelli, Ivan; Ameziane, Najim; Gana, Simone; DELLA MINA, Erika; Giussani, Ursula; Ciccone, Roberto; Forlino, Antonella; Pezzoli, Laura; Rooimans, Martin A; van Essen, Antoni J; Messa, Jole; Rizzuti, Tommaso; Bianchi, PAOLO EMILIO; Dorsman, Josephine; de Winter, Johan P; Lalatta, Faustina; Zuffardi, Orsetta | |
| Complex rearrangement involving three chromosomes, four breakpoints and a 2.7-Mb deletion in the 18q segment observed in a girl with mild learning difficulties | 1-gen-2016 | Kontodiou, M. 1; Daskalakis, G; Vetro, Annalisa; Paspaliaris, V.; Papaioannou, G; Dagklis, T; Tsakiridis, I; Ziegler, MARTIN BURKHARD ANDREAS; Liehr, Thomas; Thomaidis, L; Papoulidis, I; Manolakos, | |
| A Data Fusion Approach to Enhance Association Study in Epilepsy | 1-gen-2016 | Marini, Simone; Limongelli, Ivan; Rizzo, Ettore; Malovini, ALBERTO LUIGI; Errichiello, Edoardo; Vetro, Annalisa; Da, Tan; Zuffardi, Orsetta; Bellazzi, Riccardo | |
| A novel APC promoter 1B deletion shows a founder effect in Italian patients with classical familial adenomatous polyposis phenotype | 1-gen-2017 | Marabelli, Monica; Gismondi, Viviana; Ricci, Maria Teresa; Vetro, Annalisa; ABOU KHOUZAM, Raefa; Rea, Valentina; Vitellaro, Marco; Zuffardi, Orsetta; Varesco, Liliana; Ranzani, Guglielmina | |
| Whole exome sequencing in the differential diagnosis of Diamond-Blackfan anemia: Clinical and molecular study of three patients with novel RPL5 and mosaic RPS19 mutations | 1-gen-2017 | Errichiello, E; Vetro, A; Mina, T; Wischmeijer, A; Berrino, E; Carella, Miriam; Romagnoli, M; Sacchini, P; Venesio, T; Zecca, M; Zuffardi, O | |
| 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 | |
| SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type | 1-gen-2017 | Errichiello, Edoardo; Mustafa, NOOR HUSSEIN MOHAMMAD; Vetro, Annalisa; Notarangelo, Lucia Dora; DE JONGE, Hugo; Rinaldi, Berardo; Vergani, Debora; Giglio, SABRINA RITA; Morbini, Patrizia; Zuffardi, Orsetta | |
| Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH | 1-gen-2018 | Vetro, Annalisa; Goidin, D.; Lesende, I.; Limongelli, Ivan; Ranzani, Guglielmina; Novara, Francesca; Bonaglia, M. C.; Rinaldi, Berardo; Franchi, F.; Manolakos, E.; Lonardo, F.; Scarano, F.; Scarano, G.; Costantino, L.; Tedeschi, S.; Giglio, S.; Zuffardi, Orsetta | |
| PIEZO1 Hypomorphic Variants in Congenital Lymphatic Dysplasia Cause Shape and Hydration Alterations of Red Blood Cells | 1-gen-2019 | Andolfo, Immacolata; De Rosa, Gianluca; Errichiello, Edoardo; Manna, Francesco; Rosato, Barbara Eleni; Gambale, Antonella; Vetro, Annalisa; Calcaterra, Valeria; Pelizzo, Gloria; De Franceschi, Lucia; Zuffardi, Orsetta; Russo, Roberta; Iolascon, Achille |
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