Sfoglia per Autore
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.
Mutated ASXL1 and number of somatic mutations as possible indicators of progression to chronic myelomonocytic leukemia of myelodysplastic syndromes with single or multilineage dysplasia
2017 Valencia-Martinez, Ana; Sanna, Alessandro; Masala, Erico; Contini, Elisa; Brogi, Alice; Gozzini, Antonella; Santini, Valeria
Defining the diagnostic effectiveness of genes for inclusion in panels: the experience of two decades of genetic testing for hypertrophic cardiomyopathy at a single center
2018 Mazzarotto, Francesco; Girolami, Francesca; Boschi, Beatrice; Barlocco, Fausto; Tomberli, Alessia; Baldini, Katia; Coppini, Raffaele; Tanini, Ilaria; Bardi, Sara; Contini, Elisa; Cecchi, Franco; Pelo, Elisabetta; Cook, Stuart A.; Cerbai, Elisabetta; Poggesi, Corrado; Torricelli, Francesca; Walsh, Roddy; Olivotto, Iacopo
Mutation landscape in patients with myelofibrosis receiving ruxolitinib or hydroxyurea
2018 Pacilli A.; Rotunno G.; Mannarelli C.; Fanelli T.; Pancrazzi A.; Contini E.; Mannelli F.; Gesullo F.; Bartalucci N.; Fattori G.C.; Paoli C.; Vannucchi A.M.; Guglielmelli P.
Fundus phenotype in retinitis pigmentosa associated with EYS mutations
2018 Dario Pasquale Mucciolo and Andrea Sodi and Ilaria Passerini and Vittoria Murro and Francesca Cipollini and Isabella Borg and Elisabetta Pelo and Elisa Contini and Gianni Virgili and Stanislao Rizzo
Involvement of RUNX1 Pathway Is a Common Event in the Leukemic Transformation of Chronic Myeloproliferative Neoplasms (MPNs)
2019 Paola Guglielmelli, MD PhD, Niccolò Bartalucci, PhDBSc, Elisa Contini, PhD, Giada Rotunno, PhD, Annalisa Pacilli, PhD, Simone Romagnoli, BSc, Lara Mannelli, MD, Francesco Mannelli, MD, Giacomo Coltro, MD, Alessandro Pancrazzi, PhD, Valentina Ariu, BSci, Sara Fiaccabrino, Roberto Semeraro, Alberto Magi, PhD, Carmela Mannarelli, PhD, Francesca Gesullo, BSci, Chiara Paoli, PhD, Alessandro M. Vannucchi, MD
THIRD GENERATION SEQUENCING OF NORMAL KARYOTYPE ACUTE MYELOID LEUKEMIA: IMPLICATIONS FOR PROGNOSIS
2019 Bartalucci, N; Mannelli, F; Contini, E; Romagnoli, S; Gianfaldoni, G; Scappini, B; Pelo, E; Pancani, F; Magi, A; Bosi, A; Guglielmelli, P; Vannucchi, AM
Long Reads, Short Time: Feasibility of Prenatal Sample Karyotyping by Nanopore Genome Sequencing
2019 Bartalucci, Niccolò; Romagnoli, Simone; Contini, Elisa; Marseglia, Giuseppina; Magi, Alberto; Guglielmelli, Paola; Pelo, Elisabetta; Vannucchi, Alessandro M
Characteristics and clinical correlates of NFE2 mutations in chronic Myeloproliferative neoplasms
2020 Guglielmelli P.; Pacilli A.; Coltro G.; Mannelli F.; Mannelli L.; Contini E.; Rotunno G.; Bartalucci N.; Fiaccabrino S.; Sordi B.; Loscocco G.G.; Paoli C.; Vannucchi A.M.
Germline Mutation in KIF1Bβ Gene Associated with Loss of Heterozygosity: Usefulness of Next-Generation Sequencing in the Genetic Screening of Patients with Pheochromocytoma
2020 De Filpo G, Contini E, Serio V, Valeri A, Chetta M, Guasti D, Bani D, Mannelli M, Rapizzi E, Luconi M, Maggi M, Ercolino T, Canu L.
Corrigendum. Sequencing of a 'mouse azoospermia' gene panel in azoospermic men: identification of RNF212 and STAG3 mutations as novel genetic causes of meiotic arrest.
2020 Riera-Escamilla A, Enguita-Marruedo A, Moreno-Mendoza D, Chianese C, Sleddens-Linkels E, Contini E, Benelli M, Natali A, Colpi GM, Ruiz-Castañé E, Maggi M, Baarends WM, Krausz C.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| 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. | |
| Mutated ASXL1 and number of somatic mutations as possible indicators of progression to chronic myelomonocytic leukemia of myelodysplastic syndromes with single or multilineage dysplasia | 2017 | Valencia-Martinez, Ana; Sanna, Alessandro; Masala, Erico; Contini, Elisa; Brogi, Alice; Gozzini, Antonella; Santini, Valeria | |
| Defining the diagnostic effectiveness of genes for inclusion in panels: the experience of two decades of genetic testing for hypertrophic cardiomyopathy at a single center | 2018 | Mazzarotto, Francesco; Girolami, Francesca; Boschi, Beatrice; Barlocco, Fausto; Tomberli, Alessia; Baldini, Katia; Coppini, Raffaele; Tanini, Ilaria; Bardi, Sara; Contini, Elisa; Cecchi, Franco; Pelo, Elisabetta; Cook, Stuart A.; Cerbai, Elisabetta; Poggesi, Corrado; Torricelli, Francesca; Walsh, Roddy; Olivotto, Iacopo | |
| Mutation landscape in patients with myelofibrosis receiving ruxolitinib or hydroxyurea | 2018 | Pacilli A.; Rotunno G.; Mannarelli C.; Fanelli T.; Pancrazzi A.; Contini E.; Mannelli F.; Gesullo F.; Bartalucci N.; Fattori G.C.; Paoli C.; Vannucchi A.M.; Guglielmelli P. | |
| Fundus phenotype in retinitis pigmentosa associated with EYS mutations | 2018 | Dario Pasquale Mucciolo and Andrea Sodi and Ilaria Passerini and Vittoria Murro and Francesca Cipollini and Isabella Borg and Elisabetta Pelo and Elisa Contini and Gianni Virgili and Stanislao Rizzo | |
| Involvement of RUNX1 Pathway Is a Common Event in the Leukemic Transformation of Chronic Myeloproliferative Neoplasms (MPNs) | 2019 | Paola Guglielmelli, MD PhD, Niccolò Bartalucci, PhDBSc, Elisa Contini, PhD, Giada Rotunno, PhD, Annalisa Pacilli, PhD, Simone Romagnoli, BSc, Lara Mannelli, MD, Francesco Mannelli, MD, Giacomo Coltro, MD, Alessandro Pancrazzi, PhD, Valentina Ariu, BSci, Sara Fiaccabrino, Roberto Semeraro, Alberto Magi, PhD, Carmela Mannarelli, PhD, Francesca Gesullo, BSci, Chiara Paoli, PhD, Alessandro M. Vannucchi, MD | |
| THIRD GENERATION SEQUENCING OF NORMAL KARYOTYPE ACUTE MYELOID LEUKEMIA: IMPLICATIONS FOR PROGNOSIS | 2019 | Bartalucci, N; Mannelli, F; Contini, E; Romagnoli, S; Gianfaldoni, G; Scappini, B; Pelo, E; Pancani, F; Magi, A; Bosi, A; Guglielmelli, P; Vannucchi, AM | |
| Long Reads, Short Time: Feasibility of Prenatal Sample Karyotyping by Nanopore Genome Sequencing | 2019 | Bartalucci, Niccolò; Romagnoli, Simone; Contini, Elisa; Marseglia, Giuseppina; Magi, Alberto; Guglielmelli, Paola; Pelo, Elisabetta; Vannucchi, Alessandro M | |
| Characteristics and clinical correlates of NFE2 mutations in chronic Myeloproliferative neoplasms | 2020 | Guglielmelli P.; Pacilli A.; Coltro G.; Mannelli F.; Mannelli L.; Contini E.; Rotunno G.; Bartalucci N.; Fiaccabrino S.; Sordi B.; Loscocco G.G.; Paoli C.; Vannucchi A.M. | |
| Germline Mutation in KIF1Bβ Gene Associated with Loss of Heterozygosity: Usefulness of Next-Generation Sequencing in the Genetic Screening of Patients with Pheochromocytoma | 2020 | De Filpo G, Contini E, Serio V, Valeri A, Chetta M, Guasti D, Bani D, Mannelli M, Rapizzi E, Luconi M, Maggi M, Ercolino T, Canu L. | |
| Corrigendum. Sequencing of a 'mouse azoospermia' gene panel in azoospermic men: identification of RNF212 and STAG3 mutations as novel genetic causes of meiotic arrest. | 2020 | Riera-Escamilla A, Enguita-Marruedo A, Moreno-Mendoza D, Chianese C, Sleddens-Linkels E, Contini E, Benelli M, Natali A, Colpi GM, Ruiz-Castañé E, Maggi M, Baarends WM, Krausz C. |
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