NICCHIA, ELENA
NICCHIA, ELENA
Dipartimento Universitario Clinico di Scienze mediche, chirurgiche e della salute
Settore MED/03 - Genetica Medica
Clinical aspects of Fanconi anemia individuals with the same mutation of FANCF identified by next generation sequencing
2015-01-01 Nicchia, Elena; Benedicenti, Francesco; Rocco, Daniela De; Greco, Chiara; Bottega, Roberta; Inzana, Francesca; Faleschini, Michela; Bonin, Serena; Cappelli, Enrico; Mogni, Massimo; Stanzial, Franco; Svahn, Johanna; Dufour, Carlo; Savoia, Anna
FANCA nel mitocondrio: qualche ruolo diretto?
2015-01-01 Bottega, Roberta; Ravera, S.; DE ROCCO, Daniela; Bortul, Roberta; Faleschini, Michela; Nicchia, Elena; Cappelli, E.; Dufour, C.; Zweyer, Marina; Savoia, Anna
Gray platelet syndrome: Novel mutations of the NBEAL2 gene
2017-01-01 Bottega, Roberta; Nicchia, Elena; Alfano, Caterina; Glembotsky, Ana C.; Pastore, Annalisa; Bertaggia Calderara, Debora; Bisig, Bettina; Duchosal, Michel A.; Arbesú, Guillermo; Alberio, Lorenzo; Heller, Paula G.; Savoia, Anna
Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia
2018-01-01 Bottega, Roberta; Nicchia, Elena; Cappelli, Enrico; Ravera, Silvia; De Rocco, Daniela; Faleschini, Michela; Corsolini, Fabio; Pierri, Filomena; Calvillo, Michaela; Russo, Giovanna; Casazza, Gabriella; Ramenghi, Ugo; Farruggia, Piero; Dufour, Carlo; Savoia, Anna
Identification of point mutations and large intragenic deletions in Fanconi anemia using next-generation sequencing technology
2015-01-01 Nicchia, Elena; Greco, Chiara; DE ROCCO, Daniela; Pecile, Vanna; D'Eustacchio, Angela; Cappelli, Enrico; Corti, Paola; Marra, Nicoletta; Ramenghi, Ugo; Pillon, Marta; Farruggia, Piero; Dufour, Carlo; Pallavicini, Alberto; Torelli, Lucio; Savoia, Anna
Inherited thrombocytopenia frequently diagnosed in Italy
2013-01-01 DE ROCCO, Daniela; Nicchia, Elena; Pecci, A; Bottega, R; Noris, P; Bladuini, Cl; Savoia, Anna
Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology.
2014-01-01 DE ROCCO, Daniela; Bottega, Roberta; Cappelli, E; Cavani, S; Criscuolo, M; Nicchia, Elena; Corsolini, F; Greco, C; Borriello, A; Svahn, J; Pillon, M; Mecucci, C; Casazza, G; Verzegnassi, F; Cugno, C; Locasciulli, A; Farruggia, P; Longoni, D; Ramenghi, U; Barberi, W; Tucci, F; Perrotta, S; Grammatico, P; Hanenberg, H; Della Ragione, F; Dufour, C; Savoia, Anna
Molecular diagnosis of thrombocytopenia-absent radius syndrome using next-generation sequencing
2016-01-01 Nicchia, Elena; Giordano, P.; Greco, C.; DE ROCCO, Daniela; Savoia, Anna
Mutations of cytochrome c identified in patients with thrombocytopenia THC4 affect both apoptosis and cellular bioenergetics.
2014-01-01 DE ROCCO, Daniela; Cerqua, C; Goffrini, P; Russo, G; Pastore, A; Meloni, F; Nicchia, Elena; Moraes, Ct; Pecci, A; Salviati, L; Savoia, Anna
MYH9-Related Disease: A Novel Prognostic Model to Predict the Clinical Evolution of the Disease Based on Genotype-Phenotype Correlations.
2014-01-01 Pecci, A; Klersy, C; Gresele, P; Lee, Kj; DE ROCCO, Daniela; Bozzi, V; Russo, G; Heller, Pg; Loffredo, G; Ballmaier, M; Fabris, F; Beggiato, E; Kahr, Wh; Pujol Moix, N; Platokouki, H; Van Geet, C; Noris, P; Yerram, P; Hermans, C; Gerber, B; Economou, M; De Groot, M; Zieger, B; De Candia, E; Fraticelli, V; Kersseboom, R; Piccoli, Gb; Zimmermann, S; Fierro, T; Glembotsky, Ac; Vianello, F; Zaninetti, C; Nicchia, Elena; Güthner, C; Baronci, C; Seri, M; Knight, Pj; Balduini, Cl; Savoia, Anna
Stable expression of mutant FANCA: is there any correlation with mild Fanconi anemia clinical?
2014-01-01 Bottega, Roberta; Cappelli, E.; Zweyer, Marina; De Rocco, D.; Valencic, Erica; Svahn, J.; Bortul, Roberta; Nicchia, Elena; Caruso, Paola; Bagnasco, F.; Greco, Chiara; Dufour, C.; Savoia, Anna