PAGANINI, IRENE
PAGANINI, IRENE
Scienze Biomediche, Sperimentali e Cliniche 'Mario Serio'
A mosaic pattern of INI1/SMARCB1 protein expression distinguishes Schwannomatosis and NF2-associated peripheral schwannomas from solitary peripheral schwannomas and NF2-associated vestibular schwannomas.
2017 Caltabiano, R; Magro, G; Polizzi, A; Praticò, Ad; Ortensi, A; D'Orazi, V; Panunzi, A; Milone, P; Maiolino, L; Nicita, F; Capone, Gl; Sestini, R; Paganini, I; Muglia, M; Cavallaro, S; Lanzafame, S; Papi, L; Ruggieri, M.
A novel PAX1 null homozygous mutation in autosomal recessive otofaciocervical syndrome associated with severe combined immunodeficiency
2017 Paganini, I.; Sestini, R.; Capone, G. L.; Putignano, A. L.; Contini, E.; Giotti, I.; Gensini, F.; Marozza, A.; Barilaro, A.; Porfirio, B.; Papi, L.
A systematic assessment of accuracy in detecting somatic mosaic variants by deep amplicon sequencing: Application to NF2 gene
2015 Contini, Elisa; Paganini, Irene; Sestini, Roberta; Candita, Luisa; Capone, Gabriele Lorenzo; Barbetti, Lorenzo; Falconi, Serena; Frusconi, Sabrina; Giotti, Irene; Giuliani, Costanza; Torricelli, Francesca; Benelli, Matteo; Papi, Laura
Broadening the spectrum of SMARCB1-associated malignant tumors: A case of uterine leiomyosarcoma in a patient with schwannomatosis
2015 Paganini, Irene; Sestini, Roberta; Cacciatore, Matilde; Capone, Gabriele L.; Candita, Luisa; Paolello, Concetta; Sbaraglia, Marta; Dei Tos, Angelo P.; Rossi, Sabrina; Papi, Laura
Detection of BRCA1 and BRCA2 variants in circulating free DNA by using a commercial kit
2019 Capone, GL; Putignano, AL; Patuelli, A; Paganini, I; Sestini, R; Gensini, F; Marozza, A; Porfirio, B; Papi, L
Double somatic SMARCB1 and NF2 mutations in sporadic spinal schwannoma
2018 Paganini I; Capone GL; Vitte J; Sestini R; Putignano AL; Giovannini M; Papi L.
Epigenomic, genomic, and transcriptomic landscape of schwannomatosis
2020 Mansouri S, Suppiah S, Mamatjan Y, Paganini I, Liu JC, Karimi S, Patil V, Nassiri F, Singh O, Sundaravadanam Y, Rath P, Sestini R, Gensini F, Agnihotri S, Blakeley J, Ostrow K, Largaespada D, Plotkin SR, Stemmer-Rachamimov A, Ferrer MM, Pugh TJ, Aldape KD, Papi L, Zadeh G
Evaluation of a Next-Generation Sequencing Assay for BRCA1 and BRCA2 Mutation Detection
2018 Capone, Gabriele Lorenzo; Putignano, Anna Laura; Saavedra, Sharon Trujillo; Paganini, Irene; Sestini, Roberta; Gensini, Francesca; De Rienzo, Irene; Papi, Laura; Porfirio, Berardino
Expanding the mutational spectrum of LZTR1 in schwannomatosis.
2015 Paganini, I., Chang, V.Y., Capone, G.L., Vitte, J.d, Benelli, M., Barbetti, L., Sestini, R., Trevisson, E., Hulsebos, T.J., Giovannini, M., Nelson, S.F., Papi, L.
Rhabdoid tumor predisposition syndrome caused by SMARCB1 constitutional deletion: prenatal detection of new case of recurrence in siblings due to gonadal mosaicism.
2016 Gigante, L; Paganini, I; Frontali, M; Ciabattoni, S; Sangiuolo, Fc; Papi, L
Schwannomatosis associated schwannomas show a different NF2 mutational spectrum compared to Neurofibromatosis type 2 patients
2019 Paganini, I; Capone, GL; Putignano, A; Sestini, R; Gensini, F; Porfirio, B; Marozza, A; Papi, L
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A mosaic pattern of INI1/SMARCB1 protein expression distinguishes Schwannomatosis and NF2-associated peripheral schwannomas from solitary peripheral schwannomas and NF2-associated vestibular schwannomas. | 2017 | Caltabiano, R; Magro, G; Polizzi, A; Praticò, Ad; Ortensi, A; D'Orazi, V; Panunzi, A; Milone, P; Maiolino, L; Nicita, F; Capone, Gl; Sestini, R; Paganini, I; Muglia, M; Cavallaro, S; Lanzafame, S; Papi, L; Ruggieri, M. | |
| A novel PAX1 null homozygous mutation in autosomal recessive otofaciocervical syndrome associated with severe combined immunodeficiency | 2017 | Paganini, I.; Sestini, R.; Capone, G. L.; Putignano, A. L.; Contini, E.; Giotti, I.; Gensini, F.; Marozza, A.; Barilaro, A.; Porfirio, B.; Papi, L. | |
| A systematic assessment of accuracy in detecting somatic mosaic variants by deep amplicon sequencing: Application to NF2 gene | 2015 | Contini, Elisa; Paganini, Irene; Sestini, Roberta; Candita, Luisa; Capone, Gabriele Lorenzo; Barbetti, Lorenzo; Falconi, Serena; Frusconi, Sabrina; Giotti, Irene; Giuliani, Costanza; Torricelli, Francesca; Benelli, Matteo; Papi, Laura | |
| Broadening the spectrum of SMARCB1-associated malignant tumors: A case of uterine leiomyosarcoma in a patient with schwannomatosis | 2015 | Paganini, Irene; Sestini, Roberta; Cacciatore, Matilde; Capone, Gabriele L.; Candita, Luisa; Paolello, Concetta; Sbaraglia, Marta; Dei Tos, Angelo P.; Rossi, Sabrina; Papi, Laura | |
| Detection of BRCA1 and BRCA2 variants in circulating free DNA by using a commercial kit | 2019 | Capone, GL; Putignano, AL; Patuelli, A; Paganini, I; Sestini, R; Gensini, F; Marozza, A; Porfirio, B; Papi, L | |
| Double somatic SMARCB1 and NF2 mutations in sporadic spinal schwannoma | 2018 | Paganini I; Capone GL; Vitte J; Sestini R; Putignano AL; Giovannini M; Papi L. | |
| Epigenomic, genomic, and transcriptomic landscape of schwannomatosis | 2020 | Mansouri S, Suppiah S, Mamatjan Y, Paganini I, Liu JC, Karimi S, Patil V, Nassiri F, Singh O, Sundaravadanam Y, Rath P, Sestini R, Gensini F, Agnihotri S, Blakeley J, Ostrow K, Largaespada D, Plotkin SR, Stemmer-Rachamimov A, Ferrer MM, Pugh TJ, Aldape KD, Papi L, Zadeh G | |
| Evaluation of a Next-Generation Sequencing Assay for BRCA1 and BRCA2 Mutation Detection | 2018 | Capone, Gabriele Lorenzo; Putignano, Anna Laura; Saavedra, Sharon Trujillo; Paganini, Irene; Sestini, Roberta; Gensini, Francesca; De Rienzo, Irene; Papi, Laura; Porfirio, Berardino | |
| Expanding the mutational spectrum of LZTR1 in schwannomatosis. | 2015 | Paganini, I., Chang, V.Y., Capone, G.L., Vitte, J.d, Benelli, M., Barbetti, L., Sestini, R., Trevisson, E., Hulsebos, T.J., Giovannini, M., Nelson, S.F., Papi, L. | |
| Rhabdoid tumor predisposition syndrome caused by SMARCB1 constitutional deletion: prenatal detection of new case of recurrence in siblings due to gonadal mosaicism. | 2016 | Gigante, L; Paganini, I; Frontali, M; Ciabattoni, S; Sangiuolo, Fc; Papi, L | |
| Schwannomatosis associated schwannomas show a different NF2 mutational spectrum compared to Neurofibromatosis type 2 patients | 2019 | Paganini, I; Capone, GL; Putignano, A; Sestini, R; Gensini, F; Porfirio, B; Marozza, A; Papi, L |