Search Results - Donatella Greco
- Showing 1 - 11 results of 11
-
1
Clinical Application of a Customized Gene Panel for Identifying Autism Spectrum Disorder-Associated Variants by Vittoria Greco, Donatella Greco, Simone Treccarichi, Maria Bottitta, Pinella Failla, Antonino Musumeci, Carla Papa, Valeria Chiavetta, Francesco Calì, Mirella Vinci
Published in Medicina (2025-07-01)Get full text
Article -
2
Implications of a <i>De Novo</i> Variant in the <i>SOX12</i> Gene in a Patient with Generalized Epilepsy, Intellectual Disability, and Childhood Emotional Behavioral Disorders by Simone Treccarichi, Francesco Calì, Mirella Vinci, Alda Ragalmuto, Antonino Musumeci, Concetta Federico, Carola Costanza, Maria Bottitta, Donatella Greco, Salvatore Saccone, Maurizio Elia
Published in Current Issues in Molecular Biology (2024-06-01)Get full text
Article -
3
Prader–Willi Syndrome with Angelman Syndrome in the Offspring by Donatella Greco, Luigi Vetri, Letizia Ragusa, Mirella Vinci, Angelo Gloria, Paola Occhipinti, Angela Antonia Costanzo, Giuseppe Quatrosi, Michele Roccella, Serafino Buono, Corrado Romano
Published in Medicina (2021-05-01)Get full text
Article -
4
Next Generation Sequencing and Electromyography Reveal the Involvement of the <i>P2RX6</i> Gene in Myopathy by Mirella Vinci, Girolamo Aurelio Vitello, Donatella Greco, Simone Treccarichi, Alda Ragalmuto, Antonino Musumeci, Antonio Fallea, Concetta Federico, Francesco Calì, Salvatore Saccone, Maurizio Elia
Published in Current Issues in Molecular Biology (2024-01-01)Get full text
Article -
5
Transcriptome Study in Sicilian Patients with Autism Spectrum Disorder by Michele Salemi, Francesca A. Schillaci, Giuseppe Lanza, Giovanna Marchese, Maria Grazia Salluzzo, Angela Cordella, Salvatore Caniglia, Maria Grazia Bruccheri, Anna Truda, Donatella Greco, Raffaele Ferri, Corrado Romano
Published in Biomedicines (2024-06-01)Get full text
Article -
6
Specific Learning Disorders: Variation Analysis of 15 Candidate Genes in 9 Multiplex Families by Francesco Calì, Francesco Domenico Di Blasi, Emanuela Avola, Mirella Vinci, Antonino Musumeci, Angelo Gloria, Donatella Greco, Daniela Rita Raciti, Alessandro Zagami, Biagio Rizzo, Santina Città, Concetta Federico, Luigi Vetri, Salvatore Saccone, Serafino Buono
Published in Medicina (2023-08-01)Get full text
Article -
7
Caring and living with Prader-Willi syndrome in Italy: integrating children, adults and parents’ experiences through a multicentre narrative medicine research by Irene Rutigliano, Letizia Ragusa, Antonio Crinò, Graziano Grugni, Luigi Reale, Alessandra Fiorencis, Maria Rosaria Licenziati, Maria Felicia Faienza, Malgorzata Wasniewska, Maurizio Delvecchio, Adriana Franzese, Paola Fusilli, Domenico Corica, Giuseppina Campana, Donatella Greco, Mariangela Chiarito, Silvia Toscano, Maria Giulia Marini
Published in BMJ Open (2020-08-01)Get full text
Article -
8
Low TGF-β1 plasma levels are associated with cognitive decline in Down syndrome by Margherita Grasso, Annamaria Fidilio, Francesca L’Episcopo, Marilena Recupero, Concetta Barone, Maria Giulia Bacalini, Cristina Benatti, Maria Concetta Giambirtone, Giuseppe Caruso, Giuseppe Caruso, Donatella Greco, Santo Di Nuovo, Corrado Romano, Corrado Romano, Raffaele Ferri, Serafino Buono, A. Claudio Cuello, Johanna M. C. Blom, Fabio Tascedda, Pier Vincenzo Piazza, Rafael De La Torre, Filippo Caraci, Filippo Caraci
Published in Frontiers in Pharmacology (2024-03-01)Get full text
Article -
9
The Italian registry for patients with Prader–Willi syndrome by Marco Salvatore, Paola Torreri, Graziano Grugni, Adele Rocchetti, Mohamad Maghnie, Giuseppa Patti, Antonino Crinò, Maurizio Elia, Donatella Greco, Corrado Romano, Adriana Franzese, Enza Mozzillo, Annamaria Colao, Gabriella Pugliese, Uberto Pagotto, Valentina Lo Preiato, Emanuela Scarano, Concetta Schiavariello, Gianluca Tornese, Danilo Fintini, Sarah Bocchini, Sara Osimani, Luisa De Sanctis, Michele Sacco, Irene Rutigliano, Maurizio Delvecchio, Maria Felicia Faienza, Malgorzata Wasniewska, Domenico Corica, Stefano Stagi, Laura Guazzarotti, Pietro Maffei, Francesca Dassie, Domenica Taruscio
Published in Orphanet Journal of Rare Diseases (2023-02-01)Get full text
Article -
10
Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome. by Maria 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 Motta, Massimo Molteni, Corrado Romano, Donatella Greco, Santina Reitano, Anna Baroncini, Elisabetta Lapi, Antonella Cecconi, Giulia Arrigo, Maria Grazia Patricelli, Chiara Pantaleoni, Stefano D'Arrigo, Daria Riva, Francesca Sciacca, Bernardo Dalla Bernardina, Leonardo Zoccante, Francesca Darra, Cristiano Termine, Emanuela Maserati, Stefania Bigoni, Emanuela Priolo, Armand Bottani, Stefania Gimelli, Frederique Bena, Alfredo Brusco, Eleonora di Gregorio, Irene Bagnasco, Ursula Giussani, Lucio Nitsch, Pierluigi Politi, Maria Luisa Martinez-Frias, Maria Luisa Martínez-Fernández, Nieves Martínez Guardia, Anna Bremer, Britt-Marie Anderlid, Orsetta Zuffardi
Published in PLoS Genetics (2011-07-01)Get full text
Article -
11
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features by Dong Li, Qin Wang, Allan Bayat, Mark R. Battig, Yijing Zhou, Daniëlle G.M. Bosch, Gijs van Haaften, Leslie Granger, Andrea K. Petersen, Luis A. Pérez-Jurado, Gemma Aznar-Laín, Anushree Aneja, Miroslava Hancarova, Sarka Bendova, Martin Schwarz, Radka Kremlikova Pourova, Zdenek Sedlacek, Beth A. Keena, Michael E. March, Cuiping Hou, Nora O’Connor, Elizabeth J. Bhoj, Margaret H. Harr, Gabrielle Lemire, Kym M. Boycott, Meghan Towne, Megan Li, Mark Tarnopolsky, Lauren Brady, Michael J. Parker, Hanna Faghfoury, Lea Kristin Parsley, Emanuele Agolini, Maria Lisa Dentici, Antonio Novelli, Meredith Wright, Rachel Palmquist, Khanh Lai, Marcello Scala, Pasquale Striano, Michele Iacomino, Federico Zara, Annina Cooper, Timothy J. Maarup, Melissa Byler, Robert Roger Lebel, Tugce B. Balci, Raymond Louie, Michael Lyons, Jessica Douglas, Catherine Nowak, Alexandra Afenjar, Juliane Hoyer, Boris Keren, Saskia M. Maas, Mahdi M. Motazacker, Julian A. Martinez-Agosto, Ahna M. Rabani, Elizabeth M. McCormick, Marni J. Falk, Sarah M. Ruggiero, Ingo Helbig, Rikke S. Møller, Lino Tessarollo, Francesco Tomassoni Ardori, Mary Ellen Palko, Tzung-Chien Hsieh, Peter M. Krawitz, Mythily Ganapathi, Bruce D. Gelb, Vaidehi Jobanputra, Ashley Wilson, John Greally, Sébastien Jacquemont, Khadijé Jizi, Ange-Line Bruel, Chloé Quelin, Vinod K. Misra, Erika Chick, Corrado Romano, Donatella Greco, Alessia Arena, Manuela Morleo, Vincenzo Nigro, Rie Seyama, Yuri Uchiyama, Naomichi Matsumoto, Ryoji Taira, Katsuya Tashiro, Yasunari Sakai, Gökhan Yigit, Bernd Wollnik, Michael Wagner, Barbara Kutsche, Anna C.E. Hurst, Michelle L. Thompson, Ryan Schmidt, Linda Randolph, Rebecca C. Spillmann, Vandana Shashi, Edward J. Higginbotham, Dawn Cordeiro, Amanda Carnevale, Gregory Costain, Tayyaba Khan, Benoît Funalot, Frederic Tran Mau-Them, Luis Fernandez Garcia Moya, Sixto García-Miñaúr, Matthew Osmond, Lauren Chad, Nada Quercia, Diana Carrasco, Chumei Li, Amarilis Sanchez-Valle, Meghan Kelley, Mathilde Nizon, Brynjar O. Jensson, Patrick Sulem, Kari Stefansson, Svetlana Gorokhova, Tiffany Busa, Marlène Rio, Hamza Hadj Habdallah, Marion Lesieur-Sebellin, Jeanne Amiel, Véronique Pingault, Sandra Mercier, Marie Vincent, Christophe Philippe, Clemence Fatus-Fauconnier, Kathryn Friend, Rebecca K. Halligan, Sunita Biswas, Jane Rosser, Cheryl Shoubridge, Mark Corbett, Christopher Barnett, Jozef Gecz, Kathleen Leppig, Anne Slavotinek, Carlo Marcelis, Rolph Pfundt, Bert B.A. de Vries, Marjon A. van Slegtenhorst, Alice S. Brooks, Benjamin Cogne, Thomas Rambaud, Zeynep Tümer, Elaine H. Zackai, Naiara Akizu, Yuanquan Song, Hakon Hakonarson
Published in The Journal of Clinical Investigation (2024-01-01)Get full text
Article
