Gene-targeted embryonic stem cells: real-time PCR assay for estimation of the number of neomycin selection cassettes

por Mancini, Cecilia, Messana, Erika, Turco, Emilia, Brussino, Alessandro, Brusco, Alfredo
Publicado 2011

Time evaluation and its accuracy in eating disorders: differences in relation to interoceptive awareness

por Meneguzzo, Paolo, Mancini, Cecilia, Ormitti, Aurora, Bonello, Elisa, Todisco, Patrizia
Publicado 2022

Urinary free cortisol and childhood maltreatments in eating disorder patients: New evidence for an ecophenotype subgroup

por Meneguzzo, Paolo, Mancini, Cecilia, Terlizzi, Samira, Sales, Chiara, Francesconi, Maria Federica, Todisco, Patrizia
Publicado 2022

Health-related quality of life assessment in eating disorders: adjustment and validation of a specific scale with the inclusion of an interpersonal domain

por Meneguzzo, Paolo, Todisco, Patrizia, Calonaci, Sofia, Mancini, Cecilia, Dal Brun, David, Collantoni, Enrico, Donini, Lorenzo Maria, Tenconi, Elena, Favaro, Angela
Publicado 2020

Complex Presentation of Hao-Fountain Syndrome Solved by Exome Sequencing Highlighting Co-Occurring Genomic Variants

por Priolo, Manuela, Mancini, Cecilia, Pizzi, Simone, Chiriatti, Luigi, Radio, Francesca Clementina, Cordeddu, Viviana, Pintomalli, Letizia, Mammì, Corrado, Dallapiccola, Bruno, Tartaglia, Marco
Publicado 2022

Co-Occurring Heterozygous CNOT3 and SMAD6 Truncating Variants: Unusual Presentation and Refinement of the IDDSADF Phenotype

por Priolo, Manuela, Radio, Francesca Clementina, Pizzi, Simone, Pintomalli, Letizia, Pantaleoni, Francesca, Mancini, Cecilia, Cordeddu, Viviana, Africa, Emilio, Mammì, Corrado, Dallapiccola, Bruno, Tartaglia, Marco
Publicado 2021

Case report: Novel compound heterozygosity for pathogenic variants in MED23 in a syndromic patient with postnatal microcephaly

por Salzano, Emanuela, Niceta, Marcello, Pizzi, Simone, Radio, Francesca Clementina, Busè, Martina, Mercadante, Francesca, Barresi, Sabina, Ferrara, Arturo, Mancini, Cecilia, Tartaglia, Marco, Piccione, Maria
Publicado 2023

KCNK18 Biallelic Variants Associated with Intellectual Disability and Neurodevelopmental Disorders Alter TRESK Channel Activity

por 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
Publicado 2021

Biallelic Inactivating TUB Variants Cause Retinal Ciliopathy Impairing Biogenesis and the Structure of the Primary Cilium

por Ziccardi, Lucia, Niceta, Marcello, Stellacci, Emilia, Ciolfi, Andrea, Tatti, Massimo, Bruselles, Alessandro, Mancini, Cecilia, Barbano, Lucilla, Cecchetti, Serena, Costanzo, Eliana, Cappa, Marco, Parravano, Mariacristina, Varano, Monica, Tartaglia, Marco, Cordeddu, Viviana
Publicado 2022

Human canonical CD157/Bst1 is an alternatively spliced isoform masking a previously unidentified primate-specific exon included in a novel transcript

por 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
Publicado 2017

Case report: Expanding the phenotype of FOXP1-related intellectual disability syndrome and hyperkinetic movement disorder in differential diagnosis with epileptic seizures

por Cesaroni, Carlo Alberto, Pollazzon, Marzia, Mancini, Cecilia, Rizzi, Susanna, Cappelletti, Camilla, Pizzi, Simone, Frattini, Daniele, Spagnoli, Carlotta, Caraffi, Stefano Giuseppe, Zuntini, Roberta, Trimarchi, Gabriele, Niceta, Marcello, Radio, Francesca Clementina, Tartaglia, Marco, Garavelli, Livia, Fusco, Carlo
Publicado 2023

RPL5 on 1p22.1 is recurrently deleted in multiple myeloma and its expression is linked to bortezomib response

por 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
Publicado 2016

In vitro dexamethasone treatment does not induce alternative ATM transcripts in cells from Ataxia–Telangiectasia patients

por 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
Publicado 2020

Mitochondrial stress response triggered by defects in protein synthesis quality control

por 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
Publicado 2019

Spinocerebellar ataxia 38: structure–function analysis shows ELOVL5 G230V is proteotoxic, conformationally altered and a mutational hotspot

por Ferrero, Enza, Di Gregorio, Eleonora, Ferrero, Marta, Ortolan, Erika, Moon, Young-Ah, Di Campli, Antonella, Pavinato, Lisa, Mancini, Cecilia, Tripathy, Debasmita, Manes, Marta, Hoxha, Eriola, Costanzi, Chiara, Pozzi, Elisa, Rossi Sebastiano, Matteo, Mitro, Nico, Tempia, Filippo, Caruso, Donatella, Borroni, Barbara, Basso, Manuela, Sallese, Michele, Brusco, Alfredo
Publicado 2023

Delineation of the clinical profile of CNOT2 haploinsufficiency and overview of the IDNADFS phenotype

por Niceta, Marcello, Pizzi, Simone, Inzana, Francesca, Peron, Angela, Bakhtiari, Somayeh, Nizon, Mathilde, Levy, Jonathan, Mancini, Cecilia, Cogné, Benjamin, Radio, Francesca Clementina, Agolini, Emanuele, Cocciadiferro, Dario, Novelli, Antonio, Salih, Mustafa A., Recalcati, Maria Paola, Arancio, Rosangela, Besnard, Marianne, Tabet, Anne‐Claude, Kruer, Michael C., Priolo, Manuela, Dallapiccola, Bruno, Tartaglia, Marco
Publicado 2022

Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways

por 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
Publicado 2013

An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2

por 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
Publicado 2015

Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH

por 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
Publicado 2014

Genome-Wide DNA Methylation Profiling Solves Uncertainty in Classifying NSD1 Variants

por Ferilli, Marco, Ciolfi, Andrea, Pedace, Lucia, Niceta, Marcello, Radio, Francesca Clementina, Pizzi, Simone, Miele, Evelina, Cappelletti, Camilla, Mancini, Cecilia, Galluccio, Tiziana, Andreani, Marco, Iascone, Maria, Chiriatti, Luigi, Novelli, Antonio, Micalizzi, Alessia, Matraxia, Marta, Menale, Lucia, Faletra, Flavio, Prontera, Paolo, Pilotta, Alba, Bedeschi, Maria Francesca, Capolino, Rossella, Baban, Anwar, Seri, Marco, Mammì, Corrado, Zampino, Giuseppe, Digilio, Maria Cristina, Dallapiccola, Bruno, Priolo, Manuela, Tartaglia, Marco
Publicado 2022