Characterization of a cellular line expressing a defect of thymidine kinase activity and displaying resistance to the antiviral activity of AZT von Antonelli, G., Turriziani, O., Strosselli, S., Verri, A., Cianfriglia, M., Riva, E., Simeoni, E., Dianzani, E.

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CDKN2A and BAP1 germline mutations predispose to melanoma and mesothelioma von 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

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Intrathecal kappa free light chains as markers for multiple sclerosis von Vecchio, D., Bellomo, G., Serino, R., Virgilio, E., Lamonaca, M., Dianzani, U., Cantello, R., Comi, C., Crespi, I.

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A mutation in caspase-9 decreases the expression of BAFFR and ICOS in patients with immunodeficiency and lymphoproliferation von 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

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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 von QUARELLO, Paola, GARELLI, Emanuela, BRUSCO, Alfredo, CARANDO, Adriana, MANCINI, Cecilia, PAPPI, Patrizia, VINTI, Luciana, SVAHN, Johanna, DIANZANI, Irma, RAMENGHI, Ugo

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DNA methylation profiling of asbestos-treated MeT5A cell line reveals novel pathways implicated in asbestos response von Casalone, E., Allione, A., Viberti, C., Pardini, B., Guarrera, S., Betti, M., Dianzani, I., Aldieri, E., Matullo, G.

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Cholesteryl butyrate solid lipid nanoparticles inhibit the adhesion and migration of colon cancer cells von Minelli, R, Serpe, L, Pettazzoni, P, Minero, V, Barrera, G, Gigliotti, CL, Mesturini, R, Rosa, AC, Gasco, P, Vivenza, N, Muntoni, E, Fantozzi, R, Dianzani, U, Zara, GP, Dianzani, C

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Kappa index for multiple sclerosis diagnosis: an accurate biomarker of intrathecal synthesis von Vecchio, Domizia, Puricelli, C., Virgilio, E., Passarelli, F., Guida, S., Naldi, P., Crespi, I., Dianzani, U., Comi, C.

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Binding of NUFIP2 to Roquin promotes recognition and regulation of ICOS mRNA von Rehage, Nina, Davydova, Elena, Conrad, Christine, Behrens, Gesine, Maiser, Andreas, Stehklein, Jenny E., Brenner, Sven, Klein, Juliane, Jeridi, Aicha, Hoffmann, Anne, Lee, Eunhae, Dianzani, Umberto, Willemsen, Rob, Feederle, Regina, Reiche, Kristin, Hackermüller, Jörg, Leonhardt, Heinrich, Sharma, Sonia, Niessing, Dierk, Heissmeyer, Vigo

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Synthesis of the Data on COVID-19 Skin Manifestations: Underlying Mechanisms and Potential Outcomes von Farinazzo, Eleonora, Dianzani, Caterina, Zalaudek, Iris, Conforti, Claudio, Grabbe, Stephan, Goldust, Mohamad

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Serum and cerebrospinal fluid neurofilament light chains measured by SIMOA™, Ella™, and Lumipulse™ in multiple sclerosis naïve patients von Vecchio, D, Puricelli, C, Malucchi, S, Virgilio, E, Martire, S, Perga, S, Passarelli, F, Valentino, P, Di Sapio, A, Cantello, R, Dianzani, U, Comi, C

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Exploiting pre‐rRNA processing in Diamond Blackfan anemia gene discovery and diagnosis von Farrar, Jason E., Quarello, Paola, Fisher, Ross, O'Brien, Kelly A., Aspesi, Anna, Parrella, Sara, Henson, Adrianna L., Seidel, Nancy E., Atsidaftos, Eva, Prakash, Supraja, Bari, Shahla, Garelli, Emanuela, Arceci, Robert J., Dianzani, Irma, Ramenghi, Ugo, Vlachos, Adrianna, Lipton, Jeffrey M., Bodine, David M., Ellis, Steven R.

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Variations of the perforin gene in patients with autoimmunity/lymphoproliferation and defective Fas function von Clementi, Rita, Chiocchetti, Annalisa, Cappellano, Giuseppe, Cerutti, Elisa, Ferretti, Massimo, Orilieri, Elisabetta, Dianzani, Irma, Ferrarini, Marina, Bregni, Marco, Danesino, Cesare, Bozzi, Valeria, Putti, Maria Caterina, Cerutti, Franco, Cometa, Angela, Locatelli, Franco, Maccario, Rita, Ramenghi, Ugo, Dianzani, Umberto

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Medical and Surgical Care of Patients With Mesothelioma and Their Relatives Carrying Germline BAP1 Mutations von Carbone, Michele, Pass, Harvey I., Ak, Guntulu, Alexander, H. Richard, Baas, Paul, Baumann, Francine, Blakely, Andrew M., Bueno, Raphael, Bzura, Aleksandra, Cardillo, Giuseppe, Churpek, Jane E., Dianzani, Irma, De Rienzo, Assunta, Emi, Mitsuru, Emri, Salih, Felley-Bosco, Emanuela, Fennell, Dean A., Flores, Raja M., Grosso, Federica, Hayward, Nicholas K., Hesdorffer, Mary, Hoang, Chuong D., Johansson, Peter A., Kindler, Hedy L., Kittaneh, Muaiad, Krausz, Thomas, Mansfield, Aaron, Metintas, Muzaffer, Minaai, Michael, Mutti, Luciano, Nielsen, Maartje, O’Byrne, Kenneth, Opitz, Isabelle, Pastorino, Sandra, Pentimalli, Francesca, de Perrot, Marc, Pritchard, Antonia, Ripley, Robert Taylor, Robinson, Bruce, Rusch, Valerie, Taioli, Emanuela, Takinishi, Yasutaka, Tanji, Mika, Tsao, Anne S., Tuncer, A. Murat, Walpole, Sebastian, Wolf, Andrea, Yang, Haining, Yoshikawa, Yoshie, Zolondick, Alicia, Schrump, David S., Hassan, Raffit

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Diamond-Blackfan anemia: genotype-phenotype correlations in Italian patients with RPL5 and RPL11 mutations von QUARELLO, Paola, GARELLI, Emanuela, BIONDINI, Laura, LORENI, Fabrizio, DIANZANI, Irma, RAMENGHI, Ugo, CARANDO, Adriana, BRUSCO, Alfredo, CALABRESE, Roberto, DUFOUR, Carlo, LONGONI, Daniela, MISURACA, Aldo, VINTI, Luciana, ASPESI, Anna

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A European Multicenter Study of Phenylalanine Hydroxylase Deficiency: Classification of 105 Mutations and a General System for Genotype-Based Prediction of Metabolic Phenotype von Guldberg, Per, Rey, Françoise, Zschocke, Johannes, Romano, Valentino, François, Baudouin, Michiels, Luc, Ullrich, Kurt, Hoffmann, Georg F., Burgard, Peter, Schmidt, Hildgund, Meli, Concetta, Riva, Enrica, Dianzani, Irma, Ponzone, Alberto, Rey, Jean, Güttler, Flemming

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Effects of PARP-1 Deficiency on Th1 and Th2 Cell Differentiation von Pioli, C., Rosado, M. M., Bennici, E., Novelli, F., Laudisi, F., Sambucci, M.

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A 20‐year long term experience of the Italian Diamond‐Blackfan Anaemia Registry: RPS and RPL genes, different faces of the same disease? von Quarello, Paola, Garelli, Emanuela, Carando, Adriana, Cillario, Rebecca, Brusco, Alfredo, Giorgio, Elisa, Ferrante, Daniela, Corti, Paola, Zecca, Marco, Luciani, Matteo, Pierri, Filomena, Putti, Maria C., Cantarini, Maria E., Farruggia, Piero, Barone, Angelica, Cesaro, Simone, Russo, Giovanna, Fagioli, Franca, Dianzani, Irma, Ramenghi, Ugo

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Whole Genome Sequencing of Diamond Blackfan Anemia Syndrome Patients Detects Mutations That Alter mRNA Splicing von Clarke, Stanley R, Vlachos, Adrianna, Lichtenberg, Jens, Seidel, Nancy E, Jagadeesh, Jaya, SequencingProgram, NISC Comparative, Phillippy, Adam M., Farrar, Jason E, Ellis, Steven R, Dianzani, Irma, Lipton, Jeffrey M, Bodine, David M

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Kappa free light chains could predict early disease course in multiple sclerosis von Vecchio, D., Crespi, I., Virgilio, E., Naldi, P., Campisi, M.P., Serino, R., Dianzani, U., Bellomo, G., Cantello, R., Comi, C.

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