RAVAZZOLO, ROBERTO

RAVAZZOLO, ROBERTO  

100009 - Dipartimento di Neuroscienze, Riabilitazione, Oftamologia, Genetica e Scienze Materno-Infantili  

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5,10-Methylenetetrahydrofolate reductase polymorphism and early organ damage in primary hypertension. 1-gen-2001 M., Ravera; Viazzi, FRANCESCA CHIARA; V., Berruti; Leoncini, Giovanna; P., Zagami; G. P., Bezante; N., Rosatto; Ravazzolo, Roberto; Pontremoli, Roberto; Deferrari, Giacomo
A BCR-JAK2 fusion gene as the result of a t(9;22)(p24;q11) in a patient with acute myeloid leukemia 1-gen-2008 Cirmena, Gabriella; Aliano, Stefania; Fugazza, Giuseppina; Bruzzone, Roberto; Garuti, A; Bocciardi, Renata; Bacigalupo, A; Ravazzolo, Roberto; Ballestrero, Alberto; Sessarego, Mario
A DNA element in the alpha 1 type III collagen promoter mediates a stimulatory response by angiotensin II. 1-gen-2000 Ghiggeri, Gm; Oleggini, R; Musante, L; Caridi, Gl; Gusmano, R; Ravazzolo, Roberto
A novel human homologue of the SH3BGR gene encodes a small protein similar to Glutaredoxin 1 of Escherichia coli 1-gen-2001 Mazzocco, M.; Arrigo, P.; Egeo, A.; Maffei, Massimo; Vergano, A.; DI LISI, R.; Ghiotto, FABIO GIUSEPPE; Ciccone, Ermanno; Cinti, R.; Ravazzolo, Roberto; Scartezzini, P.
A novel p63 mutation in a fetus with ultrasound detection of split hand/foot malformation 1-gen-2012 Simonazzi, G; Miccoli, S; Salfi, N; Bonasoni, Mp; Bocciardi, Renata; Ravazzolo, Roberto; Seri, M; Curti, A; Pilu, G; Rizzo, N; Turchetti, D.
A point mutation in ABC1 gene in a patient with severe premature coronary heart disease and mild clinical phenotype of Tangier disease 1-gen-2001 Bertolini, Stefano; Pisciotta, Livia; Seri, M; Cusano, R; Cantafora, A; Calabresi, L; Franceschini, G; Ravazzolo, Roberto; Calandra, S.
A polymorphic variant inside the Osteopontin gene shows association with disease course in Oligoarticular Juvenile Idiopathic Arthritis 1-gen-2006 Marciano, R.; Giacopelli, F.; Divizia, M. T.; Gattorno, M.; Felici, E.; Pistorio, A.; Martini, Alberto; Ravazzolo, Roberto; Picco, P.
A polymorphism in the 5' UTR of the DEFB1 gene is associated with the lung phenotype in F508del homozygous Italian cystic fibrosis patients Clin Chem Lab Med. 2011 Jan;49(1):49-54. 1-gen-2011 Crovella, S; Segat, L; Amato, A; Athanasakis, E; Bezzerri, V; Braggion, C; Casciaro, R; Castaldo, G; Colombo, C; Covone, Ae; DE ROSE, V; Gagliardini, R; Lanzara, C; Minicucci, Laura; Morgutti, M; Nicolis, E; Pardo, F; Quattrucci, S; Raia, V; Ravazzolo, Roberto; Seia, M; Stanzial, V; Termini, L; Zazzeron, L; Cabrini, G; Gasparini, P.
A rare haplotype of the RET proto-oncogene is a risk-modifying allele in Hirschsprung disease 1-gen-2002 Griseri, P; Pesce, B; Patrone, G; Osinga, J; Puppo, F; Sancandi, M; Hofstra, R; Romeo, G; Ravazzolo, Roberto; Devoto, M; Ceccherini, I.
A recessive gene for primary vesicoureteral reflux maps to chromosome 12p11-q13. 1-gen-2009 Weng, Pl; SANNA CHERCHI, S; Hensle, T; Shapiro, E; Werzberger, A; Caridi, G; Izzi, C; Konka, A; Reese, Ac; Cheng, R; Werzberger, S; Schlussel, Rn; Burk, Rd; Lee, Jh; Ravazzolo, Roberto; Scolari, F; Ghiggeri, Gm; Glassberg, K; Gharavi, Ag
A refined physical and transcriptional map of the SPG9 locus on 10q23.3-q24.2 1-gen-2000 Lonigro, C; Cusano, R; Scaranari, M; Cinti, R; Forabosco, P; BRESCIA MORRA, V; Demichele, G; Davies, S; Hurst, J; Devoto, M; Ravazzolo, Roberto; Seri, M.
A single cis-acting element in a short promoter segment of the gene encoding the Interphotoreceptor Retinoid Binding Protein (IRBP) confers tissue-specific expression 1-gen-1995 Bobola, N; Hirsch, E; Albini, A; Altruda, F; Noonan, D; Ravazzolo, Roberto
A variation in a Pit-1 site in the growth hormone gene (GH1) promoter induces a differential transcriptional activity 1-gen-2006 Giordano, M; Godi, M; Giacopelli, F; Lessi, M; Mellone, S; Paracchini, R; Petri, A; Bellone, J; Ravazzolo, Roberto; Bona, G; MOMIGLIANO RICHIARDI, P.
ACVR1 p.Q207E causes classic fibrodysplasia ossificans progressiva and is functionally distinct from the engineered constitutively active ACVR1 p.Q207D variant 1-gen-2014 J., Haupt; A., Deichsel; K., Stange; C., Ast; Bocciardi, Renata; Ravazzolo, Roberto; M., Di Rocco; P., Ferrari; A., Landi; F. S., Kaplan; E. M., Shore; C., Reissner; P., Seemann
Adenovirus E1A down-regulates the EGF receptor via repression of its promoter 1-gen-2000 Prudenziati, M; Sirito, M; Vandam, H; Ravazzolo, Roberto
AIRE gene polymorphisms in systemic sclerosis associated with autoimmune thyroiditis 1-gen-2007 Ferrera, Francesca; Rizzi, M.; Sprecacenere, B.; Balestra, P.; Sessarego, Mario; DI CARLO, A.; Filaci, Gilberto; Gabrilelli, A.; Ravazzolo, Roberto; Indiveri, Francesco
AIRE gene polymorphisms in systemic sclerosis associated with autoimmune thyroiditis. In: International Workshop Systemic Sclerosis. 1-gen-2007 Ferrera, Francesca; M., Rizzi; B., Sprecacenere; P., Balestra; M., Sessarego; A., DI CARLO; Filaci, Gilberto; A., Gabrielli; Ravazzolo, Roberto; F., Indiveri
Albuminuria and glomerular damage in mice lacking the Metabotropic Glutamate Receptor Type 1 (GRM1). 1-gen-2011 Puliti, Aldamaria; Rossi, Pia; Caridi, G; Corbelli, A; Ikehata, M; Armelloni, S; Li, M; Zennaro, C; Conti, V; Vaccari, Carlotta; Cassanello, M; Calevo, Mg; Emionite, L; Ravazzolo, Roberto; Rastaldi, M. P.
ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism 1-gen-2016 Panza, Emanuele; Escamilla Honrubia, Juan M; Marco Marín, Clara; Gougeard, Nadine; De Michele, Giuseppe; Brescia Morra, Vincenzo; Liguori, Rocco; Salviati, Leonardo; Donati, Maria Alice; Cusano, Roberto; Pippucci, Tommaso; Ravazzolo, Roberto; Németh, Andrea H; Smithson, Sarah; Davies, Sally; Hurst, Jane A; Bordo, Domenico; Rubio, Vicente; Seri, Marco
Allele-specific expression at the RET locus in blood and gut tissue of individuals carrying risk alleles for Hirschsprung disease 1-gen-2013 Matera, I; Musso, M; Griseri, P; Rusmini, Marta; Di Duca, M; So, Mt; Mavilio, D; Miao, X; Tam, Ph; Ravazzolo, Roberto; Ceccherini, I; Garcia Barcelo, M.