CDKN2A and BAP1 germline mutations predispose to melanoma and mesothelioma
Betti, M, Aspesi, A, Biasi, A, Casalone, E, Ferrante, D, Ogliara, P, Gironi, L.C, Giorgione, R, Farinelli, P, Grosso, F, Libener, R, Rosato, S, Turchetti, D, Maffè, A, Casadio, C, Ascoli, V, Dianzani, C, Colombo, E, Piccolini, E, Pavesi, M, Miccoli, S, Mirabelli, D, Bracco, C, Righi, L, Boldorini, R, Papotti, M, Matullo, G, Magnani, C, Pasini, B, Dianzani, I
Published in Cancer letters (10.08.2016)
Published in Cancer letters (10.08.2016)
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DNA methylation profiling of asbestos-treated MeT5A cell line reveals novel pathways implicated in asbestos response
Casalone, E., Allione, A., Viberti, C., Pardini, B., Guarrera, S., Betti, M., Dianzani, I., Aldieri, E., Matullo, G.
Published in Archives of toxicology (01.05.2018)
Published in Archives of toxicology (01.05.2018)
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PIM1 kinase is destabilized by ribosomal stress causing inhibition of cell cycle progression
IADEVAIA, V, CALDAROLA, S, BIONDINI, L, GISMONDI, A, KARLSSON, S, DIANZANI, I, LORENI, F
Published in Oncogene (07.10.2010)
Published in Oncogene (07.10.2010)
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High frequency of ribosomal protein gene deletions in Italian Diamond-Blackfan anemia patients detected by multiplex ligation-dependent probe amplification assay
QUARELLO, Paola, GARELLI, Emanuela, BRUSCO, Alfredo, CARANDO, Adriana, MANCINI, Cecilia, PAPPI, Patrizia, VINTI, Luciana, SVAHN, Johanna, DIANZANI, Irma, RAMENGHI, Ugo
Published in Haematologica (Roma) (01.12.2012)
Published in Haematologica (Roma) (01.12.2012)
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A mutation in caspase-9 decreases the expression of BAFFR and ICOS in patients with immunodeficiency and lymphoproliferation
Clemente, N, Boggio, E, Gigliotti, C L, Orilieri, E, Cappellano, G, Toth, E, Valletti, P A, Santoro, C, Quinti, I, Pignata, C, Notarangelo, L D, Dianzani, C, Dianzani, I, Ramenghi, U, Dianzani, U, Chiocchetti, A
Published in Genes and immunity (01.03.2015)
Published in Genes and immunity (01.03.2015)
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Familial tumoral calcinosis and testicular microlithiasis associated with a new mutation of GALNT3 in a white family
Campagnoli, M F, Pucci, A, Garelli, E, Carando, A, Defilippi, C, Lala, R, Ingrosso, G, Dianzani, I, Forni, M, Ramenghi, U
Published in Journal of clinical pathology (01.04.2006)
Published in Journal of clinical pathology (01.04.2006)
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Mutations in Ribosomal Protein S19 Gene and Diamond Blackfan Anemia: Wide Variations in Phenotypic Expression
Willig, Thiébaut-Noël, Draptchinskaia, Natalia, Dianzani, Irma, Ball, Sarah, Niemeyer, Charlotte, Ramenghi, Ugo, Orfali, Karen, Gustavsson, Peter, Garelli, Emanuela, Brusco, Alfredo, Tiemann, Christian, Pérignon, Jean Louis, Bouchier, Christiane, Cicchiello, Lawrence, Dahl, Niklas, Mohandas, Narla, Tchernia, Gil
Published in Blood (15.12.1999)
Published in Blood (15.12.1999)
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Multiplex ligation-dependent probe amplification enhances molecular diagnosis of Diamond-Blackfan anemia due to RPS19 deficiency
Quarello, Paola, Garelli, Emanuela, Brusco, Alfredo, Carando, Adriana, Pappi, Patrizia, Barberis, Marco, Coletti, Valentina, Campagnoli, Maria Francesca, Dianzani, Irma, Ramenghi, Ugo
Published in Haematologica (Roma) (01.11.2008)
Published in Haematologica (Roma) (01.11.2008)
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Defective function of Fas in T cells from paediatric patients with autoimmune thyroid diseases
BONA, G., DEFRANCO, S., CHIOCCHETTI, A., INDELICATO, M., BIAVA, A., DIFRANCO, D., DIANZANI, I., RAMENGHI, U., CORRIAS, A., WEBER, G., DE SANCTIS, V., IUGHETTI, L., RADETTI, G., DIANZANI, U.
Published in Clinical and experimental immunology (01.09.2003)
Published in Clinical and experimental immunology (01.09.2003)
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Diamond-Blackfan anaemia: genetic homogeneity for a gene on chromosome 19q13 restricted to 1.8 Mb
Willig, Thiébaut-Noel, Haeringen, Arie van, Veer-Korthof, Lisbeth van't, Tchernia, Gil, Gordon, Laurie, Dianzani, Irma, Renter, Jan-Inge, Donnér, Mikael, Nilsson, Per-Gunnar, Gustavsson, Peter, Dahl, Niklas, Elinder, Göran, Skeppner, Gunnar, Kreuger, Anders
Published in Nature genetics (01.08.1997)
Published in Nature genetics (01.08.1997)
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Diamond-Blackfan Anemia: Report of Seven Further Mutations in the RPS19 Gene and Evidence of Mutation Heterogeneity in the Italian Population
Ramenghi, U, Campagnoli, M.F, Garelli, E, Carando, A, Brusco, A, Bagnara, G.P, Strippoli, P, Izzi, G.C, Brandalise, S, Riccardi, R, Dianzani, I
Published in Blood cells, molecules, & diseases (01.10.2000)
Published in Blood cells, molecules, & diseases (01.10.2000)
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Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide
Walpole, Sebastian, Pritchard, Antonia L, Cebulla, Colleen M, Pilarski, Robert, Stautberg, Meredith, Davidorf, Frederick H, de la Fouchardière, Arnaud, Cabaret, Odile, Golmard, Lisa, Stoppa-Lyonnet, Dominique, Garfield, Erin, Njauw, Ching-Ni, Cheung, Mitchell, Turunen, Joni A, Repo, Pauliina, Järvinen, Reetta-Stiina, van Doorn, Remco, Jager, Martine J, Luyten, Gregorius P M, Marinkovic, Marina, Chau, Cindy, Potrony, Miriam, Höiom, Veronica, Helgadottir, Hildur, Pastorino, Lorenza, Bruno, William, Andreotti, Virginia, Dalmasso, Bruna, Ciccarese, Giulia, Queirolo, Paola, Mastracci, Luca, Wadt, Karin, Kiilgaard, Jens Folke, Speicher, Michael R, van Poppelen, Natasha, Kilic, Emine, Al-Jamal, Rana'a T, Dianzani, Irma, Betti, Marta, Bergmann, Carsten, Santagata, Sandro, Dahiya, Sonika, Taibjee, Saleem, Burke, Jo, Poplawski, Nicola, O'Shea, Sally J, Newton-Bishop, Julia, Adlard, Julian, Adams, David J, Lane, Anne-Marie, Kim, Ivana, Klebe, Sonja, Racher, Hilary, Harbour, J William, Nickerson, Michael L, Murali, Rajmohan, Palmer, Jane M, Howlie, Madeleine, Symmons, Judith, Hamilton, Hayley, Warrier, Sunil, Glasson, William, Johansson, Peter, Robles-Espinoza, Carla Daniela, Ossio, Raul, de Klein, Annelies, Puig, Susana, Ghiorzo, Paola, Nielsen, Maartje, Kivelä, Tero T, Tsao, Hensin, Testa, Joseph R, Gerami, Pedram, Stern, Marc-Henri, Paillerets, Brigitte Bressac-de, Abdel-Rahman, Mohamed H, Hayward, Nicholas K
Published in JNCI : Journal of the National Cancer Institute (01.12.2018)
Published in JNCI : Journal of the National Cancer Institute (01.12.2018)
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AEC syndrome: further evidence of a common genetic etiology with Rapp–Hodgkin syndrome
Sorasio, L., Ferrero, G.B., Garelli, E., Brunello, G., Martano, C., Carando, A., Belligni, E., Dianzani, I., Cirillo Silengo, M.
Published in European journal of medical genetics (01.11.2006)
Published in European journal of medical genetics (01.11.2006)
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Diamond‐Blackfan anaemia in the Italian population
Ramenghi, U., Garelli, E., Valtolina, S., Campagnoli, M. F., Timeus, F., Crescenzio, N., Mair, M., Varotto, S., D'Avanzo, M., Nobili, B., Massolo, F., Mori, P. G., Locatelli, F., Gustavsson, P., Dahl, N., Dianzani, I.
Published in British journal of haematology (01.03.1999)
Published in British journal of haematology (01.03.1999)
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Dilemmas and progress in mutation detection
Dianzani, I., Camaschella, C., Ponzone, A., Cotton, R.G.H.
Published in Trends in genetics (01.12.1993)
Published in Trends in genetics (01.12.1993)
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Cystinuria phenotyping by oral lysine and arginine loading
de Sanctis, L, Bonetti, G, Bruno, M, De Luca, F, Bisceglia, L, Palacin, M, Dianzani, I, Ponzone, A
Published in Clinical nephrology (01.12.2001)
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Published in Clinical nephrology (01.12.2001)
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Clustering of distinct autoimmune diseases associated with functional abnormalities of T cell survival in children
Pignata, C., Alessio, M., Ramenghi, U., Bonissoni, S., Difranco, D., Brusco, A., Matrecano, E., Franzese, A., Dianzani, I., Dianzani, U.
Published in Clinical and experimental immunology (01.07.2000)
Published in Clinical and experimental immunology (01.07.2000)
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A series of mutations in the dihydropteridine reductase gene resulting in either abnormal RNA splicing or DHPR protein defects. Mutations in brief no. 244. Online
Smooker, P M, Gough, T J, Cotton, R G, Alliaudi, C, de Sanctis, L, Dianzani, I
Published in Human mutation (1999)
Published in Human mutation (1999)
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Genetic history of phenylketonuria mutations in Italy
Dianzani, I, Giannattasio, S, de Sanctis, L, Marra, E, Ponzone, A, Camaschella, C, Piazza, A
Published in American journal of human genetics (01.10.1994)
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Published in American journal of human genetics (01.10.1994)
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