DAMANTE, Giuseppe

DAMANTE, Giuseppe  

DMED - DIPARTIMENTO DI MEDICINA  

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A 16q deletion involving FOXF1 enhancer is associated to pulmonary capillary hemangiomatosis 1-gen-2015 Dello Russo, Patrizia; Franzoni, Alessandra; Baldan, Federica; Puppin, Cinzia; De Maglio, Giovanna; Pittini, Carla; Cattarossi, Luigi; Pizzolitto, Stefano; Damante, Giuseppe
A case of familial brain-lung-thyroid syndrome due to a NKX2.1 run-on mutation 1-gen-2022 Baldan, F; Cavaliere, E; Gortan, Aj; Passon, N; Fabbro, D; Marin, D; Carecchio, M; Credendino, Sc; Gallo, R; Cogo, P; Damante, G; De Vita, G
A CGH array procedure to detect PAX6 gene structural defects 1-gen-2017 Franzoni, Alessandra; Russo, Patrizia Dello; Baldan, Federica; D'Elia, Angela Valentina; Puppin, Cinzia; Penco, Silvana; Damante, Giuseppe
A de novo nonsense mutation of PAX6 gene in a patient with aniridia,ataxia and mental retardation 1-gen-2007 Graziano, C; D'Elia, Av; Mazzanti, L; Moscano, F; Guidelli Guidi, S; Scarano, E; Turchetti, D; Franzoni, E; Romeo, G; Damante, Giuseppe; Seri, M.
A deletion 3' to the PAX6 gene in familial aniridia cases 1-gen-2007 D'Elia, Av; Pellizzari, Lucia; Fabbro, Dora; Pianta, Annalisa; Divizia, Mt; Rinaldi, R; Grammatico, B; Grammatico, P; Arduino, C; Damante, Giuseppe
A differential proteomic approach to identify proteins associated with thyroid cell transformation 1-gen-2005 Berlingeri, M. T.; Bivi, Nicoletta; Damante, Giuseppe; D'Ambrosio, C.; Fusco, A.; Pallante, P. L.; Paron, Igor; Scaloni, A.; Tell, Gianluca
A molecular code dictates sequence-specific DNA recognition by homeodomains 1-gen-1996 Damante, Giuseppe; Pellizzari, L; Esposito, Gennaro; Fogolari, Federico; Viglino, Paolo; Fabbro, D; Tell, Gianluca; Formisano, S; Di Lauro, R.
A network of specific minor-groove contacts is a common characteristic of paired-domain-DNA interactions 1-gen-1996 Pellizzari, L; Fabbro, D; Lonigro, Incoronata; Di Lauro, R; Damante, Giuseppe
A new germline VHL gene mutation in three patients with apparently sporadic pheochromocytoma 1-gen-2013 D'Elia, Av; Grimaldi, F; Pizzolitto, S; De Maglio, G; Bregant, E; Passon, N; Franzoni, A; Verrienti, A; Tamburrano, G; Durante, C; Filetti, S; Fogolari, Federico; Russo, D; Damante, Giuseppe
A novel de novo germ-line V292M mutation in the extracellular region of RET in a patient with phaeochromocytoma and medullary thyroid carcinoma: Functional characterization 1-gen-2010 Castellone, Md; Verrienti, A; Rao, Dm; Sponziello, M; Fabbro, D; Muthu, M; Durante, C; Maranghi, M; Damante, Giuseppe; Pizzolitto, S; Costante, G; Russo, D; Santoro, M; Filetti, S.
A novel de novo HDAC8 missense mutation causing Cornelia de Lange syndrome 1-gen-2021 Mio, C.; Passon, N.; Fogolari, F.; Cesario, C.; Novelli, A.; Pittini, C.; Damante, G.
A novel de novo NIPA1 missense mutation associated to hereditary spastic paraplegia 1-gen-2021 Fabbro, D.; Mio, C.; Fogolari, F.; Damante, G.
A novel Q3034R BRCA2 germline mutation indentified in a fallopian tube cancer patient 1-gen-2003 Baudi, F; DE PAOLA, L; Quaresima, B; Fanello, Mc; Ferini, G; Gasparro, S; Fagiani, G; Driul, Lorenza; Delia, A; Casarsa, Sara; Marchesoni, Diego; Damante, Giuseppe; Cuda, G; Costanzo, F; Venuta, S.
A paternally inherited 1.4 kb deletion of the 11p15.5 imprinting center 2 is associated with a mild familial Silver–Russell syndrome phenotype 1-gen-2020 Mio, C.; Allegri, L.; Passon, N.; Bregant, E.; Demori, E.; Franzoni, A.; Driul, D.; Riccio, A.; Damante, G.; Baldan, F.
A polymorphic GGC repeat in the NPAS2 gene and its association with melanoma 1-gen-2017 Franzoni, Alessandra; Markova-Car, Elitza; Dević-Pavlić, Sanja; Jurišić, Davor; Puppin, Cinzia; Mio, Catia; De Luca, Marila; Petruz, Giulia; Damante, Giuseppe; Pavelić, Sandra Kraljević
A Proteomic approach to identify early molecular targets of oxidative stress in human epithelial lens cells 1-gen-2004 Paron, Igor; D'Elia, A.; D'Ambrosio, C.; Scaloni, A.; D'Aurizio, F.; Prescott, A.; Damante, Giuseppe; Tell, Gianluca
A simple multiplex real-time PCR methodology for the SMN1 gene copy number quantification 1-gen-2009 Passon, N; Pozzo, F; Molinis, C; Bregant, E; Gellera, C; Damante, Giuseppe; Lonigro, Incoronata
A suppressor of transcriptional activity is present upstream from the rat c-Ha-ras promoter 1-gen-1988 Damante, Giuseppe; Rapoport, B.
A synonymous RET substitution enhances the oncogenic effect of an in-cis missense mutation by increasing constitutive splicing efficiency 1-gen-2018 Pecce, Valeria; Sponziello, Marialuisa; Damante, Giuseppe; Rosignolo, Francesca; Durante, Cosimo; Lamartina, Livia; Grani, Giorgio; Russo, Diego; di Gioia, Cira Rosaria; Filetti, Sebastiano; Verrienti, Antonella
A unique combination of transcription factors controls differentiation of thyroid cells 1-gen-2000 Damante, Giuseppe; Tell, Gianluca; DI LAURO, R.