檢索結果 - Francesca Novara
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Generation of mesenchymal stromal cells in the presence of platelet lysate: a phenotypic and functional comparison of umbilical cord blood- and bone marrow-derived progenitors 由 Maria Antonietta Avanzini, Maria Ester Bernardo, Angela Cometa, Cesare Perotti, Nadia Zaffaroni, Francesca Novara, Livia Visai, Antonia Moretta, Claudia Del Fante, Raffaella Villa, L.M. Ball, W.E. Fibbe, Rita Maccario, Franco Locatelli
出版 2009Artigo -
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Twenty-one cases of blastic plasmacytoid dendritic cell neoplasm: focus on biallelic locus 9p21.3 deletion 由 Marco Lucioni, Francesca Novara, Giacomo Fiandrino, Roberta Riboni, Daniele Fanoni, Mariarosa Arra, Luigia Venegoni, Marta Di Nicola, Elena Dallera, Luca Arcaini, Francesco Onida, Pamela Vezzoli, Erica Travaglino, Emanuela Boveri, Orsetta Zuffardi, Marco Paulli, Emilio Berti
出版 2011Artigo -
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Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3 由 Giulia Cova, Juliane Glaser, Robert Schöpflin, Cesar A. Prada‐Medina, Salaheddine Ali, Martin Franke, Rita Falcone, Miriam Federer, Emanuela Ponzi, Romina Ficarella, Francesca Novara, Lars Wittler, Bernd Timmermann, Mattia Gentile, Orsetta Zuffardi, Malte Spielmann, Stefan Mundlos
出版 2023Artigo -
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Distinct transcriptional profiles characterize bone microenvironment mesenchymal cells rather than osteoblasts in relationship with multiple myeloma bone disease 由 Katia Todoerti, Gina Lisignoli, Paola Storti, Luca Agnelli, Francesca Novara, Cristina Manferdini, Katia Codeluppi, Simona Colla, Monica Crugnola, Manuela Abeltino, Marina Bolzoni, Valentina Sgobba, Andrea Facchini, Giorgio Lambertenghi‐Deliliers, Orsetta Zuffardi, Vittorio Rizzoli, Antonino Neri, Nicola Giuliani
出版 2009Artigo -
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Endothelial colony-forming cells from patients with chronic myeloproliferative disorders lack the disease-specific molecular clonality marker 由 Giovanna Piaggio, Vittorio Rosti, Mirko Corselli, Francesca Bertolotti, Gaetano Bergamaschi, Sarah Pozzi, Davide Imperiale, Barbara Chiavarina, Elisa Bonetti, Francesca Novara, Mario Sessarego, Laura Villani, Anna Garuti, Margherita Massa, Riccardo Ghio, Rita Campanelli, Andrea Bacigalupo, Alessandro Pecci, Gianluca Viarengo, Orsetta Zuffardi, Francesco Frassoni, Giovanni Barosi
出版 2009Artigo -
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Spleen endothelial cells from patients with myelofibrosis harbor the JAK2V617F mutation 由 Vittorio Rosti, Laura Villani, Roberta Riboni, Valentina Poletto, Elisa Bonetti, Lorenzo Tozzi, Gaetano Bergamaschi, Paolo Catarsi, Elena Dallera, Francesca Novara, Margherita Massa, Rita Campanelli, Gabriela Fois, Benedetta Peruzzi, Marco Lucioni, Paola Guglielmelli, Alessandro Pancrazzi, Giacomo Fiandrino, Orsetta Zuffardi, Umberto Magrini, Marco Paulli, Alessandro M. Vannucchi, Giovanni Barosi
出版 2012Artigo -
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Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases 由 Francesca Novara, Berardo Rinaldi, Sanjay M. Sisodiya, Antonietta Coppola, Sabrina Giglio, Franco Stanzial, Francesco Benedicenti, Alan Donaldson, Joris Andrieux, Rachel Stapleton, Astrid Weber, Paolo Reho, Conny M.A. van Ravenswaaij‐Arts, Wilhelmina S. Kerstjens‐Frederikse, Joris Vermeesch, Koenraad Devriendt, Carlos A. Bacino, Andrée Delahaye‐Duriez, Saskia M. Maas, Achille Iolascon, Orsetta Zuffardi
出版 2017Artigo -
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Complex Segmental Duplications Mediate a Recurrent dup(X)(p11.22-p11.23) Associated with Mental Retardation, Speech Delay, and EEG Anomalies in Males and Females 由 Roberto Giorda, María Clara Bonaglia, Silvana Beri, Marco Fichera, Francesca Novara, Pamela Magini, Jill Urquhart, Freddie H. Sharkey, Claudio Zucca, Rita Grasso, Susan Marelli, Lucia Castiglia, Daniela Benedetto, S Musumeci, Girolamo Aurelio Vitello, Pinella Failla, S Reitano, Emanuela Avola, Francesca Bisulli, Paolo Tinuper, Massimo Mastrangelo, Isabella Fiocchi, Luigina Spaccini, Claudia Torniero, Elena Fontana, Sally Ann Lynch, Jill Clayton‐Smith, Graeme Black, Philippe Jonveaux, Bruno Leheup, Marco Seri, Corrado Romano, Bernardo Dalla Bernardina, Orsetta Zuffardi
出版 2009Artigo -
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The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype 由 Bregje W.M. van Bon, David A. Koolen, Louise Brueton, Dominic McMullan, Klaske D. Lichtenbelt, Lesley C. Adès, Gregory B. Peters, Kate Gibson, Francesca Novara, Tiziano Pramparo, Bernardo Dalla Bernardina, Leonardo Zoccante, Umberto Balottin, F Piazza, Vanna Pecile, Paolo Gasparini, Veronica Guerci, Marleen Kets, Rolph Pfundt, Arjan Pm de Brouwer, Joris A. Veltman, Nicole de Leeuw, Meredith Wilson, Jayne Antony, S Reitano, D Luciano, Marco Fichera, Corrado Romano, Han G Brunner, Orsetta Zuffardi, Bert BA de Vries
出版 2009Artigo -
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A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures 由 Andrew J. Sharp, Heather C. Mefford, Kelly Li, Carl Baker, Cindy Skinner, Roger E. Stevenson, Richard J. Schroer, Francesca Novara, Manuela De Gregori, Roberto Ciccone, Adam Broomer, Iris Casuga, Yu Wang, Chunlin Xiao, Cátálin Bárbácioru, Giorgio Gimelli, Bernardo Dalla Bernardina, Claudia Torniero, Roberto Giorda, Regina Regan, Victoria Murday, Sahar Mansour, Marco Fichera, Lucia Castiglia, Pinella Failla, Mario Ventura, Zhaoshi Jiang, Gregory M. Cooper, Samantha J.L. Knight, Corrado Romano, Orsetta Zuffardi, Caifu Chen, Charles E. Schwartz, Evan E. Eichler
出版 2008Artigo -
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Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity 由 Nina De Rocker, Sarah Vergult, David A. Koolen, Eva Jacobs, Alexander Hoischen, Susan Zeesman, Birgitte Bang, Frédérique Béna, Nele Bockaert, Ernie M.H.F. Bongers, Thomy de Ravel, Koenraad Devriendt, Sabrina Giglio, Laurence Faivre, Shelagh Joss, Saskia M. Maas, Nathalie Marle, Francesca Novara, Małgorzata J.M. Nowaczyk, Hilde Peeters, Abeltje M. Polstra, Filip Roelens, Carla Rosenberg, Julien Thévenon, Zeynep Tümer, Suzanne Vanhauwaert, Konstantinos Varvagiannis, Andy Willaert, Marjolein H. Willemsen, Marjolaine Willems, Orsetta Zuffardi, Paul Coucke, Frank Speleman, Evan E. Eichler, Tjitske Kleefstra, Björn Menten
出版 2014Artigo -
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Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients 由 Manuela De Gregori, Roberto Ciccone, Pamela Magini, Tiziano Pramparo, Stefania Gimelli, Jole Messa, Francesca Novara, Annalisa Vetro, Elena Rossi, P Maraschio, María Clara Bonaglia, Cecilia Anichini, Giovanni Battista Ferrero, Margherita Silengo, Elisa Fazzi, Adriana Zatterale, Rita Fischetto, Carlo Previderé, S. Belli, Alessandra Turci, G Calabrese, Franca Bernardi, Emanuela Meneghelli, Mariluce Riegel, Mariano Rocchi, Silvana Guerneri, Faustina Lalatta, Leopoldo Zelante, Corrado Romano, Marco Fichera, Teresa Mattina, Giulia Arrigo, Marcella Zollino, Sabrina Giglio, Fortunato Lonardo, Aldo Bonfante, Alessandra Ferlini, Francisco Tejada Cifuentes, Hilde Van Esch, Liesbeth Backx, Albert Schinzel, Joris Vermeesch, Orsetta Zuffardi
出版 2007Artigo -
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Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome 由 María Clara Bonaglia, Roberto Giorda, Silvana Beri, Cristina De Agostini, Francesca Novara, Marco Fichera, Lucia Grillo, Ornella Galesi, Annalisa Vetro, Roberto Ciccone, Maria Teresa Bonati, Sabrina Giglio, Renzo Guerrini, Sara Osimani, Susan Marelli, Claudio Zucca, Rita Grasso, Renato Borgatti, Elisa Mani, Cristina Maria de Souza‐Motta, Massimo Molteni, Corrado Romano, Donatella Greco, S Reitano, Anna Baroncini, Elisabetta Lapi, Antonella Cecconi, Giulia Arrigo, Maria Grazia Patricelli, Chiara Pantaleoni, Stefano D’Arrigo, Daria Riva, Francesca L. Sciacca, Bernardo Dalla Bernardina, Leonardo Zoccante, Francesca Darra, Cristiano Termine, Emanuela Maserati, Stefania Bigoni, Emanuela Priolo, Armand Bottani, Stefania Gimelli, Frédérique Béna, Alfredo Brusco, Eleonora Di Gregorio, Irene Bagnasco, Ursula Giussani, Lucio Nitsch, Pierluigi Politi, María Luisa Martínez‐Frías, M.L. Martínez‐Fernández, N. Martínez Guardia, Anna Bremer, Britt‐Marie Anderlid, Orsetta Zuffardi
出版 2011Artigo -
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Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes 由 A. C. Lionel, Kristiina Tammimies, Andrea K. Vaags, Jill A. Rosenfeld, Joo Wook Ahn, Daniele Merico, Abdul Noor, Cassandra Runke, Vamsee Pillalamarri, M. T. Carter, Matthew J. Gazzellone, Bhooma Thiruvahindrapuram, Christina Fagerberg, Lone Walentin Laulund, Giovanna Pellecchia, Sylvia Lamoureux, Charu Deshpande, Jill Clayton‐Smith, A. Clinton White, Susan Leather, J Q Trounce, H. Melanie Bedford, Eli Hatchwell, Peggy S. Eis, Ryan K. C. Yuen, Susan Walker, Mohammed Uddin, Michael T. Geraghty, Sarah M. Nikkel, Eva Tomiak, Bridget A. Fernandez, Noam Soreni, Jennifer Crosbie, Paul Arnold, Russell Schachar, Wendy Roberts, Andrew D. Paterson, Jonathan So, Péter Szatmári, Christina Chrysler, Marc Woodbury‐Smith, R. Brian Lowry, Lonnie Zwaigenbaum, D. Mandyam, John Wei, Jeffrey R. MacDonald, Jennifer Howe, Thomas Nalpathamkalam, Z. Wang, Debbie Tolson, Donna Cobb, Timothy Wilks, Merete Juul Sørensen, Patricia I. Bader, Yu An, Bai-Lin Wu, S Musumeci, Corrado Romano, Diana Postorivo, A. Nardone, Matteo Della Monica, Gioacchino Scarano, Leonardo Zoccante, Francesca Novara, Orsetta Zuffardi, Roberto Ciccone, Vincenzo Antona, Massimo Carella, Leopoldo Zelante, Pietro Cavalli, Carlo Poggiani, Ugo Cavallari, Bob Argiropoulos, Judy Chernos, Charlotte Brasch‐Andersen, Marsha Speevak, Marco Fichera, Caroline Mackie Ogilvie, Ya Shen, JM Hodge, Michael E. Talkowski, Dimitri J. Stavropoulos, Christian R. Marshall, Stephen W. Scherer
出版 2013Artigo
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Biology
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Chromosomal translocation
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Angelman syndrome
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Microdeletion syndrome