ERRICHIELLO, EDOARDO

ERRICHIELLO, EDOARDO  

DIPARTIMENTO DI MEDICINA MOLECOLARE  

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Risultati 1 - 20 di 39 (tempo di esecuzione: 0.039 secondi).
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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.
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.
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.
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
Confini e medicina di precisione in coppie consanguinee di migranti: la ricezione della consulenza genetica successiva all'identificazione di patologie fetali 1-gen-2018 Berlincioni, V.; Catania, CRISTINA GRAZIA; Acerbi, F.; Spinillo, A.; Arossa, A.; Kurtas, EDIBE NEHIR; Errichiello, E.; Zuffardi, O.
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
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
Dissection of partial 21q monosomy in different phenotypes: clinical and molecular characterization of five cases and review of the literature 1-gen-2016 Errichiello, E; Novara, F; Cremante, Anna; Verri, A; Galli, J; Fazzi, E; Bellotti, D; Losa, Laura; Cisternino, M; 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
A donor splice site mutation in CISD2 generates multiple truncated, non-functional isoforms in Wolfram syndrome type 2 patients 1-gen-2017 Cattaneo, M; La Sala, L; Rondinelli, M; Errichiello, E; Zuffardi, O; Puca, Aa; Genovese, S; Ceriello, A
Ex vivo-expanded bone marrow CD34(+) for acute myocardial infarction treatment: in vitro and in vivo studies 1-gen-2011 Gunetti, M; Noghero, A; Molla, F; Staszewsky, Li; de Angelis, N; Soldo, A; Russo, I; Errichiello, E; Frasson, C; Rustichelli, D; Ferrero, I; Gualandris, A; Berger, M; Geuna, M; Scacciatella, P; Basso, G; Marra, S; Bussolino, F; Latini, R; Fagioli, F.
FANCA, TP53, and del(5q)/RPS14 alterations in a patient with T-cell non-Hodgkin lymphoma and concomitant Fanconi anemia and Li-Fraumeni syndrome 1-gen-2020 Errichiello, E.; Mina, T.; Morbini, P.; Zecca, M.; Zuffardi, O.
A genome-wide association study of myasthenia gravis 1-gen-2015 Renton, Ae; Pliner, Ha; Provenzano, C; Evoli, A; Ricciardi, R; Nalls, Ma; Marangi, G; Abramzon, Y; Arepalli, S; Chong, S; Hernandez, Dg; Johnson, Jo; Bartoccioni, E; Scuderi, F; Maestri, M; Gibbs, Jr; Errichiello, E; Chiò, A; Restagno, G; Sabatelli, M; Macek, M; Scholz, Sw; Corse, A; Chaudhry, V; Benatar, M; Barohn, Rj; Mcvey, A; Pasnoor, M; Dimachkie, Mm; Rowin, J; Kissel, J; Freimer, M; Kaminski, Hj; Sanders, Db; Lipscomb, B; Massey, Jm; Chopra, M; Howard JF, Jr; Koopman, Wj; Nicolle, Mw; Pascuzzi, Rm; Pestronk, A; Wulf, C; Florence, J; Blackmore, D; Soloway, A; Siddiqi, Z; Muppidi, S; Wolfe, G; Richman, D; Mezei, Mm; Jiwa, T; Oger, J; Drachman, Db; Traynor, Bj.
Histologic heterogeneity and syndromic associations of non-ampullary duodenal polyps and superficial mucosal lesions 1-gen-2021 Carbone, R.; Rovedatti, L.; Lenti, M. V.; Furlan, D.; Errichiello, E.; Gana, S.; Luinetti, O.; Arpa, G.; Alvisi, C.; De Grazia, F.; Valente, E. M.; Sessa, F.; Paulli, M.; Vanoli, A.; Di Sabatino, A.
Improving the phenotype description of Basel-Vanagaite-Smirin-Yosef syndrome, MED25-related: polymicrogyria as a distinctive neuroradiological finding 1-gen-2020 Maini, I.; Errichiello, E.; Caraffi, S. G.; Rosato, S.; Bizzarri, V.; Pollazzon, M.; Trimarchi, G.; Contro, G.; Cavirani, B.; Gelmini, C.; Napoli, M.; Moratti, C.; Pascarella, R.; Rizzi, S.; Fusco, C.; Zuffardi, O.; Garavelli, L.
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.
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.
Low penetrance COL5A1 variants in a young patient with intracranial aneurysm and very mild signs of Ehlers-Danlos syndrome 1-gen-2020 Errichiello, E.; Malara, A.; Grimod, G.; Avolio, L.; Balduini, A.; Zuffardi, O.
Mitochondrial DNA variants in colorectal carcinogenesis: Drivers or passengers? 1-gen-2017 Errichiello, E; Venesio, T
Mitochondrial DNA variations in tumours: Drivers or passengers? 1-gen-2018 Errichiello, E; Venesio, T