Torthaí cuardaigh - Mancini, Cecilia

Gene-targeted embryonic stem cells: real-time PCR assay for estimation of the number of neomycin selection cassettes de réir Mancini, Cecilia, Messana, Erika, Turco, Emilia, Brussino, Alessandro, Brusco, Alfredo

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Urinary free cortisol and childhood maltreatments in eating disorder patients: New evidence for an ecophenotype subgroup de réir Meneguzzo, Paolo, Mancini, Cecilia, Terlizzi, Samira, Sales, Chiara, Francesconi, Maria Federica, Todisco, Patrizia

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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 de réir Quarello, Paola, Garelli, Emanuela, Brusco, Alfredo, Carando, Adriana, Mancini, Cecilia, Pappi, Patrizia, Vinti, Luciana, Svahn, Johanna, Dianzani, Irma, Ramenghi, Ugo

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Health-related quality of life assessment in eating disorders: adjustment and validation of a specific scale with the inclusion of an interpersonal domain de réir Meneguzzo, Paolo, Todisco, Patrizia, Calonaci, Sofia, Mancini, Cecilia, Dal Brun, David, Collantoni, Enrico, Donini, Lorenzo Maria, Tenconi, Elena, Favaro, Angela

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Complex Presentation of Hao-Fountain Syndrome Solved by Exome Sequencing Highlighting Co-Occurring Genomic Variants de réir Priolo, Manuela, Mancini, Cecilia, Pizzi, Simone, Chiriatti, Luigi, Radio, Francesca Clementina, Cordeddu, Viviana, Pintomalli, Letizia, Mammì, Corrado, Dallapiccola, Bruno, Tartaglia, Marco

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Co-Occurring Heterozygous CNOT3 and SMAD6 Truncating Variants: Unusual Presentation and Refinement of the IDDSADF Phenotype de réir Priolo, Manuela, Radio, Francesca Clementina, Pizzi, Simone, Pintomalli, Letizia, Pantaleoni, Francesca, Mancini, Cecilia, Cordeddu, Viviana, Africa, Emilio, Mammì, Corrado, Dallapiccola, Bruno, Tartaglia, Marco

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KCNK18 Biallelic Variants Associated with Intellectual Disability and Neurodevelopmental Disorders Alter TRESK Channel Activity de réir Pavinato, Lisa, Nematian-Ardestani, Ehsan, Zonta, Andrea, De Rubeis, Silvia, Buxbaum, Joseph, Mancini, Cecilia, Bruselles, Alessandro, Tartaglia, Marco, Pessia, Mauro, Tucker, Stephen J., D’Adamo, Maria Cristina, Brusco, Alfredo

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Human canonical CD157/Bst1 is an alternatively spliced isoform masking a previously unidentified primate-specific exon included in a novel transcript de réir Ferrero, Enza, Lo Buono, Nicola, Morone, Simona, Parrotta, Rossella, Mancini, Cecilia, Brusco, Alfredo, Giacomino, Alice, Augeri, Stefania, Rosal-Vela, Antonio, García-Rodríguez, Sonia, Zubiaur, Mercedes, Sancho, Jaime, Fiorio Pla, Alessandra, Funaro, Ada

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RPL5 on 1p22.1 is recurrently deleted in multiple myeloma and its expression is linked to bortezomib response de réir Hofman, Isabel JF, Van Duin, Mark, De Bruyne, Elke, Fancello, Laura, Mulligan, George, Geerdens, Ellen, Garelli, Emanuela, Mancini, Cecilia, Lemmens, Heidi, Delforge, Michel, Vandenberghe, Peter, Wlodarska, Iwona, Aspesi, Anna, Michaux, Lucienne, Vanderkerken, Karin, Sonneveld, Pieter, De Keersmaecker, Kim

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In vitro dexamethasone treatment does not induce alternative ATM transcripts in cells from Ataxia–Telangiectasia patients de réir Pozzi, Elisa, Giorgio, Elisa, Mancini, Cecilia, Lo Buono, Nicola, Augeri, Stefania, Ferrero, Marta, Di Gregorio, Eleonora, Riberi, Evelise, Vinciguerra, Maria, Nanetti, Lorenzo, Bianchi, Federico Tommaso, Sassi, Maria Paola, Costanzo, Vincenzo, Mariotti, Caterina, Funaro, Ada, Cavalieri, Simona, Brusco, Alfredo

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Mitochondrial stress response triggered by defects in protein synthesis quality control de réir Richter, Uwe, Ng, Kah Ying, Suomi, Fumi, Marttinen, Paula, Turunen, Taina, Jackson, Christopher, Suomalainen, Anu, Vihinen, Helena, Jokitalo, Eija, Nyman, Tuula A, Isokallio, Marita A, Stewart, James B, Mancini, Cecilia, Brusco, Alfredo, Seneca, Sara, Lombès, Anne, Taylor, Robert W, Battersby, Brendan J

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Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways de réir Mancini, Cecilia, Roncaglia, Paola, Brussino, Alessandro, Stevanin, Giovanni, Lo Buono, Nicola, Krmac, Helena, Maltecca, Francesca, Gazzano, Elena, Bartoletti Stella, Anna, Calvaruso, Maria Antonietta, Iommarini, Luisa, Cagnoli, Claudia, Forlani, Sylvie, Le Ber, Isabelle, Durr, Alexandra, Brice, Alexis, Ghigo, Dario, Casari, Giorgio, Porcelli, Anna Maria, Funaro, Ada, Gasparre, Giuseppe, Gustincich, Stefano, Brusco, Alfredo

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An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2 de réir Mancini, Cecilia, Orsi, Laura, Guo, Yiran, Li, Jiankang, Chen, Yulan, Wang, Fengxiang, Tian, Lifeng, Liu, Xuanzhu, Zhang, Jianguo, Jiang, Hui, Nmezi, Bruce Shike, Tatsuta, Takashi, Giorgio, Elisa, Di Gregorio, Eleonora, Cavalieri, Simona, Pozzi, Elisa, Mortara, Paolo, Caglio, Maria Marcella, Balducci, Alessandro, Pinessi, Lorenzo, Langer, Thomas, Padiath, Quasar S, Hakonarson, Hakon, Zhang, Xiuqing, Brusco, Alfredo

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NT5E Mutations and Arterial Calcifications de réir St. Hilaire, Cynthia, Ziegler, Shira G., Markello, Thomas C., Brusco, Alfredo, Groden, Catherine, Gill, Fred, Carlson-Donohoe, Hannah, Lederman, Robert J., Chen, Marcus Y., Yang, Dan, Siegenthaler, Michael P., Arduino, Carlo, Mancini, Cecilia, Freudenthal, Bernard, Stanescu, Horia C., Zdebik, Anselm A., Chaganti, R. Krishna, Nussbaum, Robert L., Kleta, Robert, Gahl, William A., Boehm, Manfred

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Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH de réir Di Gregorio, Eleonora, Savin, Elisa, Biamino, Elisa, Belligni, Elga Fabia, Naretto, Valeria Giorgia, D’Alessandro, Gaetana, Gai, Giorgia, Fiocchi, Franco, Calcia, Alessandro, Mancini, Cecilia, Giorgio, Elisa, Cavalieri, Simona, Talarico, Flavia, Pappi, Patrizia, Gandione, Marina, Grosso, Monica, Asnaghi, Valentina, Restagno, Gabriella, Mandrile, Giorgia, Botta, Giovanni, Silengo, Margherita Cirillo, Grosso, Enrico, Ferrero, Giovanni Battista, Brusco, Alfredo

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Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy de réir Klebe, Stephan, Depienne, Christel, Gerber, Sylvie, Challe, Georges, Anheim, Mathieu, Charles, Perrine, Fedirko, Estelle, Lejeune, Elodie, Cottineau, Julien, Brusco, Alfredo, Dollfus, Hélène, Chinnery, Patrick F., Mancini, Cecilia, Ferrer, Xavier, Sole, Guilhem, Destée, Alain, Mayer, Jean-Michel, Fontaine, Bertrand, de Seze, Jérôme, Clanet, Michel, Ollagnon, Elisabeth, Busson, Philippe, Cazeneuve, Cécile, Stevanin, Giovanni, Kaplan, Josseline, Rozet, Jean-Michel, Brice, Alexis, Durr, Alexandra

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ELOVL5 Mutations Cause Spinocerebellar Ataxia 38 de réir Di Gregorio, Eleonora, Borroni, Barbara, Giorgio, Elisa, Lacerenza, Daniela, Ferrero, Marta, Lo Buono, Nicola, Ragusa, Neftj, Mancini, Cecilia, Gaussen, Marion, Calcia, Alessandro, Mitro, Nico, Hoxha, Eriola, Mura, Isabella, Coviello, Domenico A., Moon, Young-Ah, Tesson, Christelle, Vaula, Giovanna, Couarch, Philippe, Orsi, Laura, Duregon, Eleonora, Papotti, Mauro Giulio, Deleuze, Jean-François, Imbert, Jean, Costanzi, Chiara, Padovani, Alessandro, Giunti, Paola, Maillet-Vioud, Marcel, Durr, Alexandra, Brice, Alexis, Tempia, Filippo, Funaro, Ada, Boccone, Loredana, Caruso, Donatella, Stevanin, Giovanni, Brusco, Alfredo

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Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss de réir Richard, Elodie M., Bakhtiari, Somayeh, Marsh, Ashley P.L., Kaiyrzhanov, Rauan, Wagner, Matias, Shetty, Sheetal, Pagnozzi, Alex, Nordlie, Sandra M., Guida, Brandon S., Cornejo, Patricia, Magee, Helen, Liu, James, Norton, Bethany Y., Webster, Richard I., Worgan, Lisa, Hakonarson, Hakon, Li, Jiankang, Guo, Yiran, Jain, Mahim, Blesson, Alyssa, Rodan, Lance H., Abbott, Mary-Alice, Comi, Anne, Cohen, Julie S., Alhaddad, Bader, Meitinger, Thomas, Lenz, Dominic, Ziegler, Andreas, Kotzaeridou, Urania, Brunet, Theresa, Chassevent, Anna, Smith-Hicks, Constance, Ekstein, Joseph, Weiden, Tzvi, Hahn, Andreas, Zharkinbekova, Nazira, Turnpenny, Peter, Tucci, Arianna, Yelton, Melissa, Horvath, Rita, Gungor, Serdal, Hiz, Semra, Oktay, Yavuz, Lochmuller, Hanns, Zollino, Marcella, Morleo, Manuela, Marangi, Giuseppe, Nigro, Vincenzo, Torella, Annalaura, Pinelli, Michele, Amenta, Simona, Husain, Ralf A., Grossmann, Benita, Rapp, Marion, Steen, Claudia, Marquardt, Iris, Grimmel, Mona, Grasshoff, Ute, Korenke, G. Christoph, Owczarek-Lipska, Marta, Neidhardt, John, Radio, Francesca Clementina, Mancini, Cecilia, Claps Sepulveda, Dianela Judith, McWalter, Kirsty, Begtrup, Amber, Crunk, Amy, Guillen Sacoto, Maria J., Person, Richard, Schnur, Rhonda E., Mancardi, Maria Margherita, Kreuder, Florian, Striano, Pasquale, Zara, Federico, Chung, Wendy K., Marks, Warren A., van Eyk, Clare L., Webber, Dani L., Corbett, Mark A., Harper, Kelly, Berry, Jesia G., MacLennan, Alastair H., Gecz, Jozef, Tartaglia, Marco, Salpietro, Vincenzo, Christodoulou, John, Kaslin, Jan, Padilla-Lopez, Sergio, Bilguvar, Kaya, Munchau, Alexander, Ahmed, Zubair M., Hufnagel, Robert B., Fahey, Michael C., Maroofian, Reza, Houlden, Henry, Sticht, Heinrich, Mane, Shrikant M., Rad, Aboulfazl, Vona, Barbara, Jin, Sheng Chih, Haack, Tobias B., Makowski, Christine, Hirsch, Yoel, Riazuddin, Saima, Kruer, Michael C.

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