RINALDI, BERARDO
RINALDI, BERARDO
DIPARTIMENTO DI MEDICINA MOLECOLARE
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
Low-grade parental gonosomal mosaicism in CHD2 siblings with Smith–Magenis-like syndrome
2024-01-01 Cogliati, F.; Straniero, L.; Rimoldi, V.; Masciadri, M.; Perego, S.; Rinaldi, B.; Milani, D.; Gentilini, D.; Larizza, L.; Asselta, R.; Russo, S.; Bedeschi, M. F.
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
WD40-repeat 47, a microtubule-associated protein, is essential for brain development and autophagy
2017-01-01 Kannan, M.; Bayam, E.; Wagner, C.; Rinaldi, B.; Kretz, P. F.; Tilly, P.; Roos, M.; Mcgillewie, L.; Bar, S.; Minocha, S.; Chevalier, C.; Po, C.; Vancollie, V. E.; Anthony, L. F. E.; Maguire, S. A.; Lafont, D.; Pearson, S. A.; Gates, A. S.; Sanderson, M.; Shannon, C.; Sumowski, M. T.; McLaren-Jones, R. S. B.; Swiatkowska, A.; Isherwood, C. M.; Cambridge, E. L.; Wilson, H. M.; Caetano, S. S.; Maguire, A. K. B.; Galli, A.; Speak, A. O.; Dench, J.; Tuck, E.; Estabel, J.; Green, A.; Tudor, C.; Siragher, E.; Dabrowska, M.; Mazzeo, C. I.; Hooks, Y.; Kussy, F.; Griffiths, M.; Gannon, D.; Doe, B.; Boroviak, K.; Wardle-Jones, H.; Griggs, N.; Bottomley, J.; Ryder, E.; Gleeson, D.; White, J. K.; Ramirez-Solis, R.; Lelliott, C. J.; Chelly, J.; Mandel, J. -L.; Borgatti, R.; Piton, A.; Kinnear, C.; Loos, B.; Adams, D. J.; Herault, Y.; Collins, S. C.; Friant, S.; Godin, J. D.; Yalcin, B.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| 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 | |
| Low-grade parental gonosomal mosaicism in CHD2 siblings with Smith–Magenis-like syndrome | 1-gen-2024 | Cogliati, F.; Straniero, L.; Rimoldi, V.; Masciadri, M.; Perego, S.; Rinaldi, B.; Milani, D.; Gentilini, D.; Larizza, L.; Asselta, R.; Russo, S.; Bedeschi, M. F. | |
| 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 | |
| WD40-repeat 47, a microtubule-associated protein, is essential for brain development and autophagy | 1-gen-2017 | Kannan, M.; Bayam, E.; Wagner, C.; Rinaldi, B.; Kretz, P. F.; Tilly, P.; Roos, M.; Mcgillewie, L.; Bar, S.; Minocha, S.; Chevalier, C.; Po, C.; Vancollie, V. E.; Anthony, L. F. E.; Maguire, S. A.; Lafont, D.; Pearson, S. A.; Gates, A. S.; Sanderson, M.; Shannon, C.; Sumowski, M. T.; McLaren-Jones, R. S. B.; Swiatkowska, A.; Isherwood, C. M.; Cambridge, E. L.; Wilson, H. M.; Caetano, S. S.; Maguire, A. K. B.; Galli, A.; Speak, A. O.; Dench, J.; Tuck, E.; Estabel, J.; Green, A.; Tudor, C.; Siragher, E.; Dabrowska, M.; Mazzeo, C. I.; Hooks, Y.; Kussy, F.; Griffiths, M.; Gannon, D.; Doe, B.; Boroviak, K.; Wardle-Jones, H.; Griggs, N.; Bottomley, J.; Ryder, E.; Gleeson, D.; White, J. K.; Ramirez-Solis, R.; Lelliott, C. J.; Chelly, J.; Mandel, J. -L.; Borgatti, R.; Piton, A.; Kinnear, C.; Loos, B.; Adams, D. J.; Herault, Y.; Collins, S. C.; Friant, S.; Godin, J. D.; Yalcin, B. |