IRIS

NOVARA, FRANCESCA

NOVARA, FRANCESCA  

DIPARTIMENTO DI MEDICINA MOLECOLARE  

Mostra records
Risultati 1 - 20 di 48 (tempo di esecuzione: 0.031 secondi).
Titolo Data di pubblicazione Autore(i) File
22q11.2 Microduplication syndrome and epilepsy with continuous spikes and waves during sleep (CSWS). A case report and review of the literature. 1-gen-2012 G., Valvo; Novara, Francesca; P., Brovedani; A. R., Ferrari; R., Guerrini; Zuffardi, Orsetta; F., Sicca
5p13 microduplication syndrome: a new case and better clinical definition of the syndrome. 1-gen-2013 Novara, Francesca; E., Alfei; S., D'Arrigo; C., Pantaleoni; S., Beri; V., Achille; F. L., Sciacca; Pramparo, Tiziano; Zuffardi, Orsetta; Ciccone, Roberto
A set of new duplicons isolated from human chromosome 9 plays a role in driving primate chromosome evolution. 1-gen-2005 Novara, Francesca; Paulis, Marianna; Lodola, Milena; DE CARLI, L; Raimondi, ELENA MARIA
A wide methodological approach to identify a large duplication in CFTR gene in a CF patinet uncharacterised by sequencing analysis. 1-gen-2011 Costantino, L; Rusconi, D; Claut, L; Colombo, C; Novara, Francesca; Paracchini, V; Porcaro, L; Capasso, P; Zuffardi, Orsetta; Seia, M.
CD5(-) diffuse large B-cell lymphoma with peculiar cyclin D1+ phenotype. Pathologic and molecular characterization of a single case 1-gen-2011 Lucioni, M; Novara, Francesca; Riboni, R; Fiandrino, G; Nicola, M; Kindl, S; Boveri, E; Jemos, V; Arcaini, Luca; Zuffardi, Orsetta; Paulli, Marco
Cell cycle phases and genetic profile of bone marrow-derived mesenchymal stromal cells expanded in vitro from healthy donors. 1-gen-2011 Achille, V; Mantelli, M; Arrigo, Giulia; Novara, Francesca; Avanzini, Ma; Bernardo, Me; Zuffardi, Orsetta; Barosi, G; Zecca, M; Maccario, R.
Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis. 1-gen-2008 VAN BON, Bw; Koolen, Da; Borgatti, R; Magee, A; GARCIA MINAUR, S; Rooms, L; Reardon, W; Zollino, M; Bonaglia, Mc; DE GREGORI, Manuela; Novara, Francesca; Grasso, R; Ciccone, Roberto; Van, ; Duyvenvoorde, Ha; Aalbers, Am; Guerrini, R; Fazzi, E; Nillesen, Wm; Mccullough, S; Kant, Sg; Marcelis, Cl; Pfundt, R; DE LEEUW, N; Smeets, D; Sistermans, Ea; Wit, Jm; Hamel, Bc; Brunner, Hg; Kooy, F; Zuffardi, Orsetta; DE VRIES, Bb
Complex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and females. 1-gen-2009 Giorda, R; Bonaglia, Mc; Beri, S; Fichera, M; Novara, Francesca; Magini, P; Urquhart, J; Sharkey, Fh; Zucca, C; Grasso, M; Marelli, S; Castiglia, L; Di Benedetto, D; Musumeci, Sa; Vitello, Ga; Failla, P; Raitano, S; Avola, E; Bisulli, F; Tinuper, P; Mastrangelo, M; Fiocchi, I; Spaccini, L; Torniero, C; Fontana, E; Lynch, Sa; Clayton Smith, J; Black, G; Jonveaux, P; Leheup, B; Seri, M; Romano, C; dalla Bernardina, B; Zuffardi, Orsetta
Cortical dysplasia of the left temporal lobe might explain severe expressive-language delay in patients with duplication of the Williams-Beuren locus 1-gen-2007 Torniero, C.; dalla Bernardina, B.; Novara, Francesca; Vetro, Annalisa; Ricca, Ivana; Darra, F.; Pramparo, T.; Guerrini, R.; Zuffardi, Orsetta
Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 cases. 1-gen-2007 DE GREGORI, M.; Ciccone, Roberto; Magini, P.; Pramparo, T.; Gimelli, S.; Messa, J.; Novara, Francesca; Vetro, Annalisa; Rossi, Elena; Maraschio, Paola; Bonaglia, M. C.; Anichini, C.; Ferrero, G. B.; Silengo, M.; Fazzi, E.; Zatterale, A.; Fischetto, R.; Previdere', Carlo; Belli, S.; Turci, A.; Calabrese, G.; Bernardi, F.; Meneghelli, E.; Riegel, M.; Rocchi, M.; Guerneri, S.; Lalatta, F.; Zelante, L.; Romano, C.; Fichera, M.; Mattina, T.; Arrigo, G.; Zollino, M.; Giglio, S.; LO NARDO, F.; Bonfante, A.; Ferlini, A.; Cifuentes, F.; VAN ESCH, H.; Backx, L.; Schinzel, A.; Vermeesch, J. R.; Zuffardi, Orsetta
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.
Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion 1-gen-2014 Novara, Francesca; Franco, Stanzial; Rossi, Elena; Francesco, Benedicenti; Francesca, Inzana; Eleonora Di, Gregorio; Alfredo, Brusco; Jesper, Graakjaer; Christina, Fagerberg; Elga, Belligni; Margherita, Silengo; Zuffardi, Orsetta; Ciccone, Roberto
Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion. 1-gen-2014 Novara, Francesca; F., Stanzial; Rossi, Elena; F., Benedicenti; F., Inzana; E. D., Gregorio; A., Brusco; J., Graakjaer; C., Fagerberg; E., Belligni; M., Silengo; Zuffardi, Orsetta; Ciccone, Roberto
Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH 1-gen-2018 Vetro, Annalisa; Goidin, D.; Lesende, I.; Limongelli, Ivan; Ranzani, Guglielmina; Novara, Francesca; Bonaglia, M. C.; Rinaldi, Berardo; Franchi, F.; Manolakos, E.; Lonardo, F.; Scarano, F.; Scarano, G.; Costantino, L.; Tedeschi, S.; Giglio, S.; Zuffardi, Orsetta
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
Distinct transcriptional profiles characterize bone microenvironment mesenchymal cells rather than osteoblasts in relationship with multiple myeloma bone disease. 1-gen-2010 Todoerti, K; Lisignoli, G; Storti, P; Agnelli, L; Novara, Francesca; Manfredini, C; Codeluppi, K; Colla, S; Crugnola, M; Abeltino, M; Bolzoni, M; Sgobba, V; Facchini, A; Lambertenghi Deliliers, G; Zuffardi, Orsetta; Rizzoli, V; Neri, A; Giuliani, N.
Functional and genetic aberrations of in vitro cultured marrow-derived mesenchymal stromal cells of patients with classical Philedelphia-negative myeloproliferative neoplasms 1-gen-2014 Avanzini, Ma; Bernardo, Me; Novara, Francesca; Mantelli, M; Poletto, V; Villani, L; Lenta, E; Ingo, Dm; Achille, V; Bonetti, E; Massa, M; Campanelli, R; Fois, G; Catarsi, P; Gale, Rp; Moretta, A; Aronica, A; Maccario, R; Acquafredda, G; Lisini, D; Zecca, M; Zuffardi, Orsetta; Locatelli, Franco; Barosi, G; Rosti, V.
Genomic alterations in human umbilical cord-derived mesenchymal stromal cells call for stringent quality control before any possible therapeutic approach. 1-gen-2013 A., Borghesi; M. A., Avanzini; Novara, Francesca; M., Mantelli; E., Lenta; V., Achille; R. M., Cerbo; C., Tzialla; S., Longo; A. D., Silvestri; L. J., I; P., Manzoni; M., Zecca; Spinillo, Arsenio; R., Maccario; Zuffardi, Orsetta; M., Stronati
Genotype-phenotype relationship in three cases with overlapping 19p13.12 microdeletions. 1-gen-2010 Bonaglia, Mc; Marelli, S; Novara, Francesca; Commodaro, S; Borgatti, R; Minardo, G; Memo, L; Mangold, E; Beri, S; Zucca, C; Brambilla, D; Molteni, M; Giorda, R; Weber, Rg; Zuffardi, Orsetta
Heterozygous deletion of CHL1 gene: Detailed array-CGH and clinical characterization of a new case and review of the literature. 1-gen-2014 Tassano, E; Biancheri, R; Denegri, L; Porta, S; Novara, Francesca; Zuffardi, Orsetta; Gimelli, G; Cuoco, C.