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8 results on '"Ferlini, Alessandra"'

1. Genetic newborn screening and digital technologies: A project protocol based on a dual approach to shorten the rare diseases diagnostic path in Europe

Author

Garnier, Nicolas, primary, Berghout, Joanne, additional, Zygmunt, Aldona, additional, Singh, Deependra, additional, Huang, Kui A., additional, Kantz, Waltraud, additional, Blankart, Carl Rudolf, additional, Gillner, Sandra, additional, Zhao, Jiawei, additional, Roettger, Richard, additional, Saier, Christina, additional, Kirschner, Jan, additional, Schenk, Joern, additional, Atkins, Leon, additional, Ryan, Nuala, additional, Zarakowska, Kaja, additional, Zschüntzsch, Jana, additional, Zuccolo, Michela, additional, Müllenborn, Matthias, additional, Man, Yuen-Sum, additional, Goodman, Liz, additional, Trad, Marie, additional, Chalandon, Anne Sophie, additional, Sansen, Stefaan, additional, Martinez-Fresno, Maria, additional, Badger, Shirlene, additional, Walther van Olden, Rudolf, additional, Rothmann, Robert, additional, Lehner, Patrick, additional, Tschohl, Christof, additional, Baillon, Ludovic, additional, Gumus, Gulcin, additional, Gross, Edith, additional, Stefanov, Rumen, additional, Iskrov, Georgi, additional, Raycheva, Ralitsa, additional, Kostadinov, Kostadin, additional, Mitova, Elena, additional, Einhorn, Moshe, additional, Einhorn, Yaron, additional, Schepers, Josef, additional, Hübner, Miriam, additional, Alves, Frauke, additional, Iskandar, Rowan, additional, Mayer, Rudolf, additional, Renieri, Alessandra, additional, Piperkova, Aneta, additional, Gut, Ivo, additional, Beltran, Sergi, additional, Matthiesen, Mads Emil, additional, Poetz, Marion, additional, Hansson, Mats, additional, Trollmann, Regina, additional, Agolini, Emanuele, additional, Ottombrino, Silvia, additional, Novelli, Antonio, additional, Bertini, Enrico, additional, Selvatici, Rita, additional, Farnè, Marianna, additional, Fortunato, Fernanda, additional, and Ferlini, Alessandra, additional

Published
2023
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4. A multicenter comparison of quantification methods for antisense oligonucleotide-induced DMD exon 51 skipping in Duchenne muscular dystrophy cell cultures

Author

Hiller, Monika, primary, Falzarano, Maria Sofia, additional, Garcia-Jimenez, Iker, additional, Sardone, Valentina, additional, Verheul, Ruurd C., additional, Popplewell, Linda, additional, Anthony, Karen, additional, Ruiz-Del-Yerro, Estibaliz, additional, Osman, Hana, additional, Goeman, Jelle J., additional, Mamchaoui, Kamel, additional, Dickson, George, additional, Ferlini, Alessandra, additional, Muntoni, Francesco, additional, Aartsma-Rus, Annemieke, additional, Arechavala-Gomeza, Virginia, additional, Datson, Nicole A., additional, and Spitali, Pietro, additional

Published
2018
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5. Workload measurement for molecular genetics laboratory: A survey study.

Author

Tagliafico, Enrico, Bernardis, Isabella, Grasso, Marina, D’Apice, Maria Rosaria, Lapucci, Cristina, Botta, Annalisa, Giachino, Daniela Francesca, Marinelli, Maria, Primignani, Paola, Russo, Silvia, Sani, Ilaria, Seia, Manuela, Fini, Sergio, Rimessi, Paola, Tenedini, Elena, Ravani, Anna, Genuardi, Maurizio, Ferlini, Alessandra, and null, null

Subjects
EMPLOYEES' workload, MOLECULAR genetics, HEALTH policy, GENETIC disorder diagnosis, MATHEMATICAL optimization
Abstract

Genetic testing availability in the health care system is rapidly increasing, along with the diffusion of next-generation sequencing (NGS) into diagnostics. These issues make imperative the knowledge-drive optimization of testing in the clinical setting. Time estimations of wet laboratory procedure in Italian molecular laboratories offering genetic diagnosis were evaluated to provide data suitable to adjust efficiency and optimize health policies and costs. A survey was undertaken by the Italian Society of Human Genetics (SIGU). Forty-two laboratories participated. For most molecular techniques, the most time-consuming steps are those requiring an intensive manual intervention or in which the human bias can affect the global process time-performances. For NGS, for which the study surveyed also the interpretation time, the latter represented the step that requiring longer times. We report the first survey describing the hands-on times requested for different molecular diagnostics procedures, including NGS. The analysis of this survey suggests the need of some improvements to optimize some analytical processes, such as the implementation of laboratory information management systems to minimize manual procedures in pre-analytical steps which may affect accuracy that represents the major challenge to be faced in the future setting of molecular genetics laboratory. [ABSTRACT FROM AUTHOR]

Published
2018
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6. 6 Minute Walk Test in Duchenne MD Patients with Different Mutations: 12 Month Changes

Author

Pane, Marika, primary, Mazzone, Elena S., additional, Sormani, Maria Pia, additional, Messina, Sonia, additional, Vita, Gian Luca, additional, Fanelli, Lavinia, additional, Berardinelli, Angela, additional, Torrente, Yvan, additional, D'Amico, Adele, additional, Lanzillotta, Valentina, additional, Viggiano, Emanuela, additional, D'Ambrosio, Paola, additional, Cavallaro, Filippo, additional, Frosini, Silvia, additional, Bello, Luca, additional, Bonfiglio, Serena, additional, Scalise, Roberta, additional, De Sanctis, Roberto, additional, Rolle, Enrica, additional, Bianco, Flaviana, additional, Van der Haawue, Marlene, additional, Magri, Francesca, additional, Palermo, Concetta, additional, Rossi, Francesca, additional, Donati, Maria Alice, additional, Alfonsi, Chiara, additional, Sacchini, Michele, additional, Arnoldi, Maria Teresa, additional, Baranello, Giovanni, additional, Mongini, Tiziana, additional, Pini, Antonella, additional, Battini, Roberta, additional, Pegoraro, Elena, additional, Previtali, Stefano C., additional, Napolitano, Sara, additional, Bruno, Claudio, additional, Politano, Luisa, additional, Comi, Giacomo P., additional, Bertini, Enrico, additional, Morandi, Lucia, additional, Gualandi, Francesca, additional, Ferlini, Alessandra, additional, Goemans, Nathalie, additional, and Mercuri, Eugenio, additional

Published
2014
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7. Dystromirs as Serum Biomarkers for Monitoring the Disease Severity in Duchenne Muscular Dystrophy

Author

Zaharieva, Irina T., primary, Calissano, Mattia, additional, Scoto, Mariacristina, additional, Preston, Mark, additional, Cirak, Sebahattin, additional, Feng, Lucy, additional, Collins, James, additional, Kole, Ryszard, additional, Guglieri, Michela, additional, Straub, Volker, additional, Bushby, Kate, additional, Ferlini, Alessandra, additional, Morgan, Jennifer E., additional, and Muntoni, Francesco, additional

Published
2013
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8. The DMD Locus Harbours Multiple Long Non-Coding RNAs Which Orchestrate and Control Transcription of Muscle Dystrophin mRNA Isoforms

Author

Bovolenta, Matteo, primary, Erriquez, Daniela, additional, Valli, Emanuele, additional, Brioschi, Simona, additional, Scotton, Chiara, additional, Neri, Marcella, additional, Falzarano, Maria Sofia, additional, Gherardi, Samuele, additional, Fabris, Marina, additional, Rimessi, Paola, additional, Gualandi, Francesca, additional, Perini, Giovanni, additional, and Ferlini, Alessandra, additional

Published
2012
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