Sfoglia per Autore
De novo unbalanced translocations have a complex history/aetiology
2018-01-01 Bonaglia, M. C.; Kurtas, N. E.; Errichiello, E.; Bertuzzo, S.; Beri, S.; Mehrjouy, M. M.; Provenzano, A.; Vergani, D.; Pecile, V.; Novara, F.; Reho, P.; Di Giacomo, M. C.; Discepoli, G.; Giorda, R.; Aldred, M. A.; Santos-Reboucas, C. B.; Goncalves, A. P.; Abuelo, D. N.; Giglio, S.; Ricca, I.; Franchi, F.; Patsalis, P.; Sismani, C.; Mori, M. A.; Nevado, J.; Tommerup, N.; Zuffardi, O.
Discovering a familial Xp11.4 microduplication: Does the mother matter?
2018-01-01 Chiarapalka, ; De Marco, Stefania; Alfonsi, Melissa; Matricardi, Sara; Errichiello, Edoardo; Morizio, Elisena; Guanciali Franchi, Paolo; Calabrese, Giuseppe; Mohn, Angelika; Chiarelli, Francesco
Chromothripsis: evolution of de novo small supernumerary marker chromosomes from trisomies
2018-01-01 Kurtas, Nehir; Xumerle, Luciano; Delledonne, Massimo; Brusco, Alfredo; Chrzaowska, Krystyna; Schinzel, Albert; Guerneri, Silvana; Manolakos, Emmanouil; Errichiello, Edoardo; Giglio, Sabrina; Liehr, Thomas; Zuffardi, Orsetta
Chromothripsis and ring chromosome 22: a paradigm of genomic complexity in the Phelan-McDermid syndrome (22q13 deletion syndrome)
2018-01-01 Kurtas, EDIBE NEHIR; Arrigoni, F; Errichiello, E; Zucca, C; Maghini, C; D'Angelo, Mg; Beri, S; Giorda, R; Bertuzzo, S; Delledonne, M; Xumerle, L; Rossato, M; Zuffardi, O; Bonaglia, Mc
SOX2: Not always eye malformations. Severe genital but no major ocular anomalies in a female patient with the recurrent c.70del20 variant
2018-01-01 Errichiello, E; Gorgone, C; Giuliano, L; Iadarola, B; Cosentino, E; Rossato, M; Kurtas, Ne; Delledonne, M; Mattina, T; Zuffardi, O
Prominent and elongated coccyx, a new manifestation of KBG syndrome associated with novel mutation in ANKRD11
2018-01-01 De Bernardi, M. L.; Ivanovski, I.; Caraffi, S. G.; Maini, I.; Street, M. E.; Bayat, A.; Zollino, M.; Lepri, F. R.; Gnazzo, M.; Errichiello, E.; Superti-Furga, A.; Garavelli, L.
Non-response to vaccines: still an enigma? B-cell transcription factor POU2F2/OCT2 is a potential candidate
2019-01-01 Errichiello, E.; Licari, A.; Merli, P.; Carsetti, R.; Comoli, P.; Marseglia, G.; Zuffardi, O.
Phenotypic Expansion in Nasu-Hakola Disease: Immunological Findings in Three Patients and Proposal of a Unifying Pathogenic Hypothesis
2019-01-01 Errichiello, E; Dardiotis, E; Mannino, F; Paloneva, J; Mattina, T; Zuffardi, O
Chromothriptic events in healthy people: pay attention to "innocent" insertional translocations
2019-01-01 Kurtas, Ne; Zumerle, L; Leonardelli, L; Giussani, U; Pansa, A; Cardarelli, L; Bertini, V; Errichiello, E; Delledonne, M; Zuffardi, O
Insertional translocation involving an additional nonchromothriptic chromosome in constitutional chromothripsis: Rule or exception?
2019-01-01 Kurtas, N. E.; Xumerle, L.; Giussani, U.; Pansa, A.; Cardarelli, L.; Bertini, V.; Valetto, A.; Liehr, T.; Clara Bonaglia, M.; Errichiello, E.; Delledonne, M.; Zuffardi, O.
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
Small supernumerary marker chromosomes: A legacy of trisomy rescue?
2019-01-01 Kurtas, N. E.; Xumerle, L.; Leonardelli, L.; Delledonne, M.; Brusco, A.; Chrzanowska, K.; Schinzel, A.; Larizza, D.; Guerneri, S.; Natacci, F.; Bonaglia, M. C.; Reho, P.; Manolakos, E.; Mattina, T.; Soli, F.; Provenzano, A.; Al-Rikabi, A. H.; Errichiello, E.; Nazaryan-Petersen, L.; Giglio, S.; Tommerup, N.; Liehr, T.; Zuffardi, O.
Disseminated Mycobacterium Avium Infection in a Child with Complete Interferon-γ Receptor 1 Deficiency due to Compound Heterozygosis of IFNGR1 for a Subpolymorphic Copy Number Variation and a Novel Splice-Site Variant
2020-01-01 Bossi, Grazia; Errichiello, Edoardo; Zuffardi, Orsetta; Marone, Piero; Monzillo, Vincenzina; Barbarini, Daniela; Vergori, Antonio; Bassi, Lorenzo Andrea; Rispoli, Gaetana Anna; De Amici, Mara; Zecca, Marco
An additional piece in the TBX6 gene dosage model: A novel nonsense variant in a fetus with severe spondylocostal dysostosis
2020-01-01 Errichiello, E.; Arossa, A.; Iasci, A.; Villa, R.; Ischia, B.; Pavesi, M. A.; Rizzuti, T.; Bedeschi, M. F.; Zuffardi, O.
Movement disorders in a family carrying ATP7A variant
2020-01-01 Buongarzone, G.; Minafra, B.; Errichiello, E.; Gana, S.; Asaro, A.; Canavero, I.; Tartara, E.; Paoletti, M.; Zangaglia, R.; Cereda, C.; Pacchetti, C.; Valente, E. M.
Improving the phenotype description of Basel-Vanagaite-Smirin-Yosef syndrome, MED25-related: the relevance of neuroimaging findings
2020-01-01 Maini, I.; Errichiello, E.; Caraffi, S.; Rosato, S.; Bizzarri, V.; Pollazzon, M.; Trimarchi, G.; Contro, G.; Gelmini, C.; Napoli, M.; Pascarella, R.; Rizzi, S.; Fusco, C.; Zuffardi, O.; Garavelli, L.
Characterization of a novel loss-of-function variant in TDP2 in two adult patients with spinocerebellar ataxia autosomal recessive 23 (SCAR23)
2020-01-01 Errichiello, E.; Zagnoli-Vieira, G.; Rizzi, R.; Garavelli, L.; Caldecott, K. W.; Zuffardi, O.
KCTD17-related myoclonus-dystonia syndrome: clinical and electrophysiological findings of a patient with atypical late onset
2020-01-01 Todisco, M.; Gana, S.; Cosentino, G.; Errichiello, E.; Arceri, S.; Avenali, M.; Valente, E. M.; Alfonsi, E.
NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain
2021-01-01 Liu, Sanxiong; Aldinger, Kimberly A; Cheng, Chi Vicky; Kiyama, Takae; Dave, Mitali; Mcnamara, Hanna K; Zhao, Wukui; Stafford, James M; Descostes, Nicolas; Lee, Pedro; Caraffi, Stefano G; Ivanovski, Ivan; Errichiello, Edoardo; Zweier, Christiane; Zuffardi, Orsetta; Schneider, Michael; Papavasiliou, Antigone S; Perry, M Scott; Humberson, Jennifer; Cho, Megan T; Weber, Astrid; Swale, Andrew; Badea, Tudor C; Mao, Chai-An; Garavelli, Livia; Dobyns, William B; Reinberg, Danny
Acute megakaryoblastic leukemia with a novel GATA1 mutation in a second trimester stillborn fetus with trisomy 21
2021-01-01 Bonometti, A.; Lobascio, G.; Boveri, E.; Cesari, S.; Lecca, M.; Arossa, A.; Spinillo, A.; Errichiello, E.; Paulli, M.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| De novo unbalanced translocations have a complex history/aetiology | 1-gen-2018 | Bonaglia, M. C.; Kurtas, N. E.; Errichiello, E.; Bertuzzo, S.; Beri, S.; Mehrjouy, M. M.; Provenzano, A.; Vergani, D.; Pecile, V.; Novara, F.; Reho, P.; Di Giacomo, M. C.; Discepoli, G.; Giorda, R.; Aldred, M. A.; Santos-Reboucas, C. B.; Goncalves, A. P.; Abuelo, D. N.; Giglio, S.; Ricca, I.; Franchi, F.; Patsalis, P.; Sismani, C.; Mori, M. A.; Nevado, J.; Tommerup, N.; Zuffardi, O. | |
| Discovering a familial Xp11.4 microduplication: Does the mother matter? | 1-gen-2018 | Chiarapalka, ; De Marco, Stefania; Alfonsi, Melissa; Matricardi, Sara; Errichiello, Edoardo; Morizio, Elisena; Guanciali Franchi, Paolo; Calabrese, Giuseppe; Mohn, Angelika; Chiarelli, Francesco | |
| Chromothripsis: evolution of de novo small supernumerary marker chromosomes from trisomies | 1-gen-2018 | Kurtas, Nehir; Xumerle, Luciano; Delledonne, Massimo; Brusco, Alfredo; Chrzaowska, Krystyna; Schinzel, Albert; Guerneri, Silvana; Manolakos, Emmanouil; Errichiello, Edoardo; Giglio, Sabrina; Liehr, Thomas; Zuffardi, Orsetta | |
| Chromothripsis and ring chromosome 22: a paradigm of genomic complexity in the Phelan-McDermid syndrome (22q13 deletion syndrome) | 1-gen-2018 | Kurtas, EDIBE NEHIR; Arrigoni, F; Errichiello, E; Zucca, C; Maghini, C; D'Angelo, Mg; Beri, S; Giorda, R; Bertuzzo, S; Delledonne, M; Xumerle, L; Rossato, M; Zuffardi, O; Bonaglia, Mc | |
| SOX2: Not always eye malformations. Severe genital but no major ocular anomalies in a female patient with the recurrent c.70del20 variant | 1-gen-2018 | Errichiello, E; Gorgone, C; Giuliano, L; Iadarola, B; Cosentino, E; Rossato, M; Kurtas, Ne; Delledonne, M; Mattina, T; Zuffardi, O | |
| Prominent and elongated coccyx, a new manifestation of KBG syndrome associated with novel mutation in ANKRD11 | 1-gen-2018 | De Bernardi, M. L.; Ivanovski, I.; Caraffi, S. G.; Maini, I.; Street, M. E.; Bayat, A.; Zollino, M.; Lepri, F. R.; Gnazzo, M.; Errichiello, E.; Superti-Furga, A.; Garavelli, L. | |
| Non-response to vaccines: still an enigma? B-cell transcription factor POU2F2/OCT2 is a potential candidate | 1-gen-2019 | Errichiello, E.; Licari, A.; Merli, P.; Carsetti, R.; Comoli, P.; Marseglia, G.; Zuffardi, O. | |
| Phenotypic Expansion in Nasu-Hakola Disease: Immunological Findings in Three Patients and Proposal of a Unifying Pathogenic Hypothesis | 1-gen-2019 | Errichiello, E; Dardiotis, E; Mannino, F; Paloneva, J; Mattina, T; Zuffardi, O | |
| Chromothriptic events in healthy people: pay attention to "innocent" insertional translocations | 1-gen-2019 | Kurtas, Ne; Zumerle, L; Leonardelli, L; Giussani, U; Pansa, A; Cardarelli, L; Bertini, V; Errichiello, E; Delledonne, M; Zuffardi, O | |
| Insertional translocation involving an additional nonchromothriptic chromosome in constitutional chromothripsis: Rule or exception? | 1-gen-2019 | Kurtas, N. E.; Xumerle, L.; Giussani, U.; Pansa, A.; Cardarelli, L.; Bertini, V.; Valetto, A.; Liehr, T.; Clara Bonaglia, M.; Errichiello, E.; Delledonne, M.; Zuffardi, O. | |
| 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 | |
| Small supernumerary marker chromosomes: A legacy of trisomy rescue? | 1-gen-2019 | Kurtas, N. E.; Xumerle, L.; Leonardelli, L.; Delledonne, M.; Brusco, A.; Chrzanowska, K.; Schinzel, A.; Larizza, D.; Guerneri, S.; Natacci, F.; Bonaglia, M. C.; Reho, P.; Manolakos, E.; Mattina, T.; Soli, F.; Provenzano, A.; Al-Rikabi, A. H.; Errichiello, E.; Nazaryan-Petersen, L.; Giglio, S.; Tommerup, N.; Liehr, T.; Zuffardi, O. | |
| Disseminated Mycobacterium Avium Infection in a Child with Complete Interferon-γ Receptor 1 Deficiency due to Compound Heterozygosis of IFNGR1 for a Subpolymorphic Copy Number Variation and a Novel Splice-Site Variant | 1-gen-2020 | Bossi, Grazia; Errichiello, Edoardo; Zuffardi, Orsetta; Marone, Piero; Monzillo, Vincenzina; Barbarini, Daniela; Vergori, Antonio; Bassi, Lorenzo Andrea; Rispoli, Gaetana Anna; De Amici, Mara; Zecca, Marco | |
| An additional piece in the TBX6 gene dosage model: A novel nonsense variant in a fetus with severe spondylocostal dysostosis | 1-gen-2020 | Errichiello, E.; Arossa, A.; Iasci, A.; Villa, R.; Ischia, B.; Pavesi, M. A.; Rizzuti, T.; Bedeschi, M. F.; Zuffardi, O. | |
| Movement disorders in a family carrying ATP7A variant | 1-gen-2020 | Buongarzone, G.; Minafra, B.; Errichiello, E.; Gana, S.; Asaro, A.; Canavero, I.; Tartara, E.; Paoletti, M.; Zangaglia, R.; Cereda, C.; Pacchetti, C.; Valente, E. M. | |
| Improving the phenotype description of Basel-Vanagaite-Smirin-Yosef syndrome, MED25-related: the relevance of neuroimaging findings | 1-gen-2020 | Maini, I.; Errichiello, E.; Caraffi, S.; Rosato, S.; Bizzarri, V.; Pollazzon, M.; Trimarchi, G.; Contro, G.; Gelmini, C.; Napoli, M.; Pascarella, R.; Rizzi, S.; Fusco, C.; Zuffardi, O.; Garavelli, L. | |
| Characterization of a novel loss-of-function variant in TDP2 in two adult patients with spinocerebellar ataxia autosomal recessive 23 (SCAR23) | 1-gen-2020 | Errichiello, E.; Zagnoli-Vieira, G.; Rizzi, R.; Garavelli, L.; Caldecott, K. W.; Zuffardi, O. | |
| KCTD17-related myoclonus-dystonia syndrome: clinical and electrophysiological findings of a patient with atypical late onset | 1-gen-2020 | Todisco, M.; Gana, S.; Cosentino, G.; Errichiello, E.; Arceri, S.; Avenali, M.; Valente, E. M.; Alfonsi, E. | |
| NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain | 1-gen-2021 | Liu, Sanxiong; Aldinger, Kimberly A; Cheng, Chi Vicky; Kiyama, Takae; Dave, Mitali; Mcnamara, Hanna K; Zhao, Wukui; Stafford, James M; Descostes, Nicolas; Lee, Pedro; Caraffi, Stefano G; Ivanovski, Ivan; Errichiello, Edoardo; Zweier, Christiane; Zuffardi, Orsetta; Schneider, Michael; Papavasiliou, Antigone S; Perry, M Scott; Humberson, Jennifer; Cho, Megan T; Weber, Astrid; Swale, Andrew; Badea, Tudor C; Mao, Chai-An; Garavelli, Livia; Dobyns, William B; Reinberg, Danny | |
| Acute megakaryoblastic leukemia with a novel GATA1 mutation in a second trimester stillborn fetus with trisomy 21 | 1-gen-2021 | Bonometti, A.; Lobascio, G.; Boveri, E.; Cesari, S.; Lecca, M.; Arossa, A.; Spinillo, A.; Errichiello, E.; Paulli, M. |
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