ERRICHIELLO, EDOARDO

ERRICHIELLO, EDOARDO  

DIPARTIMENTO DI MEDICINA MOLECOLARE  

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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
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
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.
A novel variant in NEUROD2 in a patient with Rett-like phenotype points to Glu130 codon as a mutational hotspot 1-gen-2022 Politano, Davide; Gana, Simone; Pezzotti, Elena; Berardinelli, Angela; Pasca, Ludovica; Carmen Barbero, Veronica; Pichiecchio, Anna; Maria Valente, Enza; Errichiello, Edoardo
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.
Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage 1-gen-2023 Lecca, Mauro; Pehlivan, Davut; Heine Suñer, Damià; Weiss, Karin; Coste, Thibault; Zweier, Markus; Oktay, Yavuz; Danial-Farran, Nada; Rosti, Vittorio; Paola Bonasoni, Maria; Malara, Alessandro; Contrò, Gianluca; Zuntini, Roberta; Pollazzon, Marzia; Pascarella, Rosario; Neri, Alberto; Fusco, Carlo; Marafi, Dana; Mitani, Tadahiro; Ellen Posey, Jennifer; Etka Bayramoglu, Sadik; Gezdirici, Alper; Hernandez-Rodriguez, Jessica; Amengual Cladera, Emilia; Miravet, Elena; Roldan-Busto, Jorge; Angeles Ruiz, María; Vives Bauzá, Cristofol; Ben-Sira, Liat; Sigaudy, Sabine; Begemann, Anaïs; Unger, Sheila; Güngör, Serdal; Hiz, Semra; Sonmezler, Ece; Zehavi, Yoav; Jerdev, Michael; Balduini, Alessandra; Zuffardi, Orsetta; Horvath, Rita; Lochmüller, Hanns; Rauch, Anita; Garavelli, Livia; Tournier-Lasserve, Elisabeth; Spiegel, Ronen; R Lupski, James; Errichiello, Edoardo
Case Report: Decrypting an interchromosomal insertion associated with Marfan's syndrome: how optical genome mapping emphasizes the morbid burden of copy-neutral variants 1-gen-2023 Bonaglia, Maria Clara; Salvo, Eliana; Sironi, Manuela; Bertuzzo, Sara; Errichiello, Edoardo; Mattina, Teresa; Zuffardi, Orsetta
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
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
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
Commentary on “Craniofacial Syndromes and class III phenotype: common genotype fingerprints? A scoping review and meta-analysis” 1-gen-2024 Lecca, Mauro; Scribante, Andrea; Errichiello, Edoardo
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.
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
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
Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD) 1-gen-2023 De Filippi, P.; Errichiello, E.; Toscano, A.; Mongini, T.; Moggio, M.; Ravaglia, S.; Filosto, M.; Servidei, S.; Musumeci, O.; Giannini, F.; Piperno, A.; Siciliano, G.; Ricci, G.; Di Muzio, A.; Rigoldi, M.; Tonin, P.; Croce, M. G.; Pegoraro, E.; Politano, L.; Maggi, L.; Telese, R.; Lerario, A.; Sancricca, C.; Vercelli, L.; Semplicini, C.; Pasanisi, B.; Bembi, B.; Dardis, A.; Palmieri, I.; Cereda, C.; Valente, E. M.; Danesino, C.
Ex vivo expanded bone marrow CD34+ for acute myocardial infarction treatment: in vitro and in vivo studies 1-gen-2011 Gunetti, M; Ferrero, I; Noghero, A; Staszewsky, L; De Angelis, N; Soldo, A; Russo, I; Errichiello, E; Rustichelli, D; Berger, M; Marra, S; Bussolino, F; Latini, R; Fagioli, F