The synergism of SMC1A cohesin gene silencing and bevacizumab against colorectal cancer von Di Nardo, Maddalena, Astigiano, Simonetta, Baldari, Silvia, Pallotta, Maria Michela, Porta, Giovanni, Pigozzi, Simona, Antonini, Annalisa, Emionite, Laura, Frattini, Annalisa, Valli, Roberto, Toietta, Gabriele, Soddu, Silvia, Musio, Antonio

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Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL von Frattini, Annalisa, Sobacchi, Cristina, Guerrini, Matteo M, Abinun, Mario, Pangrazio, Alessandra, Susani, Lucia, Bredius, Robbert, Mancini, Grazia, Cant, Andrew, Bishop, Nick, Grabowski, Peter, Del Fattore, Andrea, Messina, Chiara, Errigo, Gabriella, Coxon, Fraser P, Scott, Debbie I, Teti, Anna, Rogers, Michael J, Vezzoni, Paolo, Villa, Anna, Helfrich, Miep H

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Enhanced p53 Levels Are Involved in the Reduced Mineralization Capacity of Osteoblasts Derived from Shwachman-Diamond Syndrome Subjects von Frattini, Annalisa, Bolamperti, Simona, Valli, Roberto, Cipolli, Marco, Pinto, Rita Maria, Bergami, Elena, Frau, Maria Rita, Cesaro, Simone, Signo, Michela, Bezzerri, Valentino, Porta, Giovanni, Khan, Abdul Waheed, Rubinacci, Alessandro, Villa, Isabella

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Chromosome Missegregation in Single Human Oocytes Is Related to the Age and Gene Expression Profile von Barone, Stefano, Sarogni, Patrizia, Valli, Roberto, Pallotta, Maria Michela, Silvia, Gazzi, Frattini, Annalisa, Khan, Abdul Waheed, Rapalini, Erika, Parri, Cristiana, Musio, Antonio

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Impaired gastric acidification negatively affects calcium homeostasis and bone mass von Amling, Michael, Schulz, Ansgar, Priemel, Matthias, Huebner, Antje K, Schilling, Arndt F, Perkovic, Sandra, Sauter, Guido, Schinke, Thorsten, Marshall, Robert P, Debatin, Klaus-Michael, Simon, Ronald, Linn, Tilman, Gebauer, Matthias, Villa, Anna, Seitz, Sebastian, Streichert, Thomas, Blaeker, Michael, Rueger, Johannes M, Zustin, Jozef, Barvencik, Florian, Baranowsky, Anke, Beil, F Timo, Pueschel, Klaus, Frattini, Annalisa, Teti, Anna, Fattore, Andrea Del, Kornak, Uwe

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Case Report: Heterozygous Germline Variant in EIF6 Additional to Biallelic SBDS Pathogenic Variants in a Patient With Ribosomopathy Shwachman–Diamond Syndrome von Taha, Ibrahim, Foroni, Selena, Valli, Roberto, Frattini, Annalisa, Roccia, Pamela, Porta, Giovanni, Zecca, Marco, Bergami, Elena, Cipolli, Marco, Pasquali, Francesco, Danesino, Cesare, Scotti, Claudia, Minelli, Antonella

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Involvement of PLEKHM1 in osteoclastic vesicular transport and osteopetrosis in incisors absent rats and humans von Van Wesenbeeck, Liesbeth, Odgren, Paul R, Coxon, Fraser P, Frattini, Annalisa, Moens, Pierre, Perdu, Bram, MacKay, Carole A, Van Hul, Els, Timmermans, Jean-Pierre, Vanhoenacker, Filip, Jacobs, Ruben, Peruzzi, Barbara, Teti, Anna, Helfrich, Miep H, Rogers, Michael J, Villa, Anna, Van Hul, Wim

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Toxicogenomics applied to in vitro Cell Transformation Assay reveals mechanisms of early response to cadmium von Callegaro, Giulia, Forcella, Matilde, Melchioretto, Pasquale, Frattini, Annalisa, Gribaldo, Laura, Fusi, Paola, Fabbri, Marco, Urani, Chiara

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The frequent and clinically benign anomalies of chromosomes 7 and 20 in Shwachman-diamond syndrome may be subject to further clonal variations von Khan, Abdul Waheed, Kennedy, Alyssa, Furutani, Elissa, Myers, Kasiani, Frattini, Annalisa, Acquati, Francesco, Roccia, Pamela, Micheloni, Giovanni, Minelli, Antonella, Porta, Giovanni, Cipolli, Marco, Cesaro, Simone, Danesino, Cesare, Pasquali, Francesco, Shimamura, Akiko, Valli, Roberto

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In utero transplantation of adult bone marrow decreases perinatal lethality and rescues the bone phenotype in the knockin murine model for classical, dominant osteogenesis imperfec... von Panaroni, Cristina, Gioia, Roberta, Lupi, Anna, Besio, Roberta, Goldstein, Steven A., Kreider, Jaclynn, Leikin, Sergey, Vera, Juan Carlos, Mertz, Edward L., Perilli, Egon, Baruffaldi, Fabio, Villa, Isabella, Farina, Aurora, Casasco, Marco, Cetta, Giuseppe, Rossi, Antonio, Frattini, Annalisa, Marini, Joan C., Vezzoni, Paolo, Forlino, Antonella

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Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis von Vezzoni, Paolo, Frattini, Annalisa, Orchard, Paul J, Sobacchi, Cristina, Giliani, Silvia, Abinun, Mario, Mattsson, Jan P, Keeling, David J, Andersson, Ann-Katrin, Wallbrandt, Pia, Zecca, Luigi, Notarangelo, Luigi D, Villa, Anna

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Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations von Pangrazio, Alessandra, Pusch, Michael, Caldana, Elena, Frattini, Annalisa, Lanino, Edoardo, Tamhankar, Parag M, Phadke, Shubha, Lopez, Antonio Gonzalez Meneses, Orchard, Paul, Mihci, Ercan, Abinun, Mario, Wright, Michael, Vettenranta, Kim, Bariæ, Ivo, Melis, Daniela, Tezcan, Ilhan, Baumann, Clarisse, Locatelli, Franco, Zecca, Marco, Horwitz, Edwin, Mansour, Lamia Sfaihi Ben, Van Roij, Mirjam, Vezzoni, Paolo, Villa, Anna, Sobacchi, Cristina

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Chloride Channel ClCN7 Mutations Are Responsible for Severe Recessive, Dominant, and Intermediate Osteopetrosis von Frattini, Annalisa, Pangrazio, Alessandra, Susani, Lucia, Sobacchi, Cristina, Mirolo, Massimiliano, Abinun, Mario, Andolina, Marino, Flanagan, Adrienne, Horwitz, Edwin M, Mihci, Ercan, Notarangelo, Luigi D, Ramenghi, Ugo, Teti, Anna, Van Hove, Johan, Vujic, Dragana, Young, Terri, Albertini, Alberto, Orchard, Paul J, Vezzoni, Paolo, Villa, Anna

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Microarray expression studies on bone marrow of patients with Shwachman-Diamond syndrome in relation to deletion of the long arm of chromosome 20, other chromosome anomalies or nor... von Khan, Abdul Waheed, Minelli, Antonella, Frattini, Annalisa, Montalbano, Giuseppe, Bogni, Alessia, Fabbri, Marco, Porta, Giovanni, Acquati, Francesco, Pinto, Rita Maria, Bergami, Elena, Mura, Rossella, Pegoraro, Anna, Cesare, Simone, Cipolli, Marco, Zecca, Marco, Danesino, Cesare, Locatelli, Franco, Maserati, Emanuela, Pasquali, Francesco, Valli, Roberto

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Partial V(D)J Recombination Activity Leads to Omenn Syndrome von Villa, Anna, Santagata, Sandro, Bozzi, Fabio, Giliani, Silvia, Frattini, Annalisa, Imberti, Luisa, Gatta, Luisa Benerini, Ochs, Hans D, Schwarz, Klaus, Notarangelo, Luigi D, Vezzoni, Paolo, Spanopoulou, Eugenia

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The Dissection of Human Autosomal Recessive Osteopetrosis Identifies an Osteoclast-Poor Form Due to RANKL Deficiency von Frattini, Annalisa, Vezzoni, Paolo, Villa, Anna, Sobacchi, Cristina

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Rescue of ATPa3-Deficient Murine Malignant Osteopetrosis by Hematopoietic Stem Cell Transplantation in utero von Frattini, Annalisa, Blair, Harry C., Maria Grazia Sacco, Cerisoli, Francesco, Francesca Faggioli, Enrica Mira Catò, Alessandra Pangrazio, Antonio Musio, Francesca Rucci, Sobacchi, Cristina, Allison C. Sharrow, Kalla, Sara E., Bruzzone, Maria Grazia, Roberto Colombo, Magli, Maria Cristina, Vezzoni, Paolo, Villa, Anna

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High variability of genomic instability and gene expression profiling in different HeLa clones von Frattini, Annalisa, Fabbri, Marco, Valli, Roberto, De Paoli, Elena, Montalbano, Giuseppe, Gribaldo, Laura, Pasquali, Francesco, Maserati, Emanuela

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Severe Malignant Osteopetrosis Caused by a GL Gene Mutation von Quarello, Paola, Forni, Marco, Barberis, Laura, Defilippi, Claudio, Campagnoli, M Francesca, Silvestro, Leandra, Frattini, Annalisa, Chalhoub, Nader, Vacher, Jean, Ramenghi, Ugo

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Molecular Cloning of ILP-2, a Novel Member of the Inhibitor of Apoptosis Protein Family von Richter, Bettina W. M., Mir, Samy S., Eiben, Lisa J., Lewis, Jennifer, Reffey, Stephanie Birkey, Frattini, Annalisa, Tian, Lan, Frank, Stephan, Youle, Richard J., Nelson, David L., Notarangelo, Luigi D., Vezzoni, Paolo, Fearnhead, Howard O., Duckett, Colin S.

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