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 COMMON HAPLOTYPE AT THE 5' END OF THE RET PROTO-ONCOGENE, OVERREPRESENTED IN HIRSCHSPRUNG PATIENTS, IS ASSOCIATED WITH REDUCED GENE EXPRESSION 1-gen-2005 Griseri, P; Bachetti, T; Puppo, F; Lantieri, Francesca; Ravazzolo, Roberto; Devoto, M; Ceccherini, I.
A common variant located in the 3'UTR of the RET gene is associated with protection from Hirschsprung disease 1-gen-2007 Griseri, P; Lantieri, Francesca; Puppo, F; Bachetti, T; DI DUCA, M; Ravazzolo, Roberto; Ceccherini, I.
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 minimal isoform of the TMEM16A protein associated with chloride channel activity 1-gen-2011 Ferrera, L; Scudieri, P; Sondo, Elvira; Caputo, A; Caci, E; Zegarra Moran, O; Ravazzolo, Roberto; Galietta, Lj
A new form of IRIDA due to combined heterozygous mutations of TMPRSS6 and ACVR1A encoding the BMP receptor ALK2 1-gen-2017 Pagani, Alessia; Colucci, Silvia; Bocciardi, Renata; Bertamino, Marta; Dufour, Carlo; Ravazzolo, Roberto; Silvestri, Laura; Camaschella, Clara
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 single-nucleotide polymorphic variant of the RET proto-oncogene is underrepresented in sporadic Hirschsprung disease 1-gen-2000 Griseri, P; Sancandi, M; Patrone, G; Bocciardi, Renata; Hofstra, R; Ravazzolo, Roberto; Devoto, M; Romeo, G; Ceccherini, I.
A spectrum of LMX1B mutations in Nail-Patella syndrome: New point mutations, deletion, and evidence of mosaicism in unaffected parents 1-gen-2010 Marini, M; Bocciardi, R; Gimelli, S; DI DUCA, M; Divizia, Mt; Baban, A; Gaspar, H; Mammi, I; Garavelli, L; Cerone, R; Emma, F; Bedeschi, Mf; Tenconi, R; Sensi, A; Salmaggi, A; Bengala, M; Mari, F; Colussi, G; Szczaluba, K; Antonarakis, Se; Seri, M; Lerone, M; Ravazzolo, R.
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.
A very short segment of the murine Ret promoter contains elements sensitive to in vitro neural cell differentiation 1-gen-2005 Zordan, P.; Ravazzolo, Roberto; Bocciardi, Renata