Telethon Network of Genetic Biobanks: a key service for diagnosis and research on rare diseases

Por Filocamo, Mirella, Baldo, Chiara, Goldwurm, Stefano, Renieri, Alessandra, Angelini, Corrado, Moggio, Maurizio, Mora, Marina, Merla, Giuseppe, Politano, Luisa, Garavaglia, Barbara, Casareto, Lorena, Bricarelli, Francesca Dagna
Publicado em 2013

Guideline recommendations for diagnosis and clinical management of Ring14 syndrome—first report of an ad hoc task force

Por Rinaldi, Berardo, Vaisfeld, Alessandro, Amarri, Sergio, Baldo, Chiara, Gobbi, Giuseppe, Magini, Pamela, Melli, Erto, Neri, Giovanni, Novara, Francesca, Pippucci, Tommaso, Rizzi, Romana, Soresina, Annarosa, Zampini, Laura, Zuffardi, Orsetta, Crimi, Marco
Publicado no Orphanet J Rare Dis (2017)

Natural Gene-Expression Variation in Down Syndrome Modulates the Outcome of Gene-Dosage Imbalance

Por Prandini, Paola , Deutsch, Samuel , Lyle, Robert , Gagnebin, Maryline , Vivier, Celine Delucinge , Delorenzi, Mauro , Gehrig, Corinne , Descombes, Patrick , Sherman, Stephanie , Bricarelli, Franca Dagna , Baldo, Chiara , Novelli, Antonio , Dallapiccola, Bruno , Antonarakis, Stylianos E. 
Publicado em 2007

The alliance between genetic biobanks and patient organisations: the experience of the telethon network of genetic biobanks

Por Baldo, Chiara, Casareto, Lorena, Renieri, Alessandra, Merla, Giuseppe, Garavaglia, Barbara, Goldwurm, Stefano, Pegoraro, Elena, Moggio, Maurizio, Mora, Marina, Politano, Luisa, Sangiorgi, Luca, Mazzotti, Raffaella, Viotti, Valeria, Meloni, Ilaria, Pellico, Maria Teresa, Barzaghi, Chiara, Wang, Chiuhui Mary, Monaco, Lucia, Filocamo, Mirella
Publicado no Orphanet J Rare Dis (2016)

Brief Report: Isogenic Induced Pluripotent Stem Cell Lines From an Adult With Mosaic Down Syndrome Model Accelerated Neuronal Ageing and Neurodegeneration

Por Murray, Aoife, Letourneau, Audrey, Canzonetta, Claudia, Stathaki, Elisavet, Gimelli, Stefania, Sloan‐Bena, Frederique, Abrehart, Robert, Goh, Pollyanna, Lim, Shuhui, Baldo, Chiara, Dagna‐Bricarelli, Franca, Hannan, Saad, Mortensen, Martin, Ballard, David, Syndercombe Court, Denise, Fusaki, Noemi, Hasegawa, Mamoru, Smart, Trevor G., Bishop, Cleo, Antonarakis, Stylianos E., Groet, Jürgen, Nizetic, Dean
Publicado no Stem Cells (2015)

BGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia

Por Cho, Sung Yoon, Bae, Jun-Seok, Kim, Nayoung K.D., Forzano, Francesca, Girisha, Katta Mohan, Baldo, Chiara, Faravelli, Francesca, Cho, Tae-Joon, Kim, Dongsup, Lee, Kyoung Yeul, Ikegawa, Shiro, Shim, Jong Sup, Ko, Ah-Ra, Miyake, Noriko, Nishimura, Gen, Superti-Furga, Andrea, Spranger, Jürgen, Kim, Ok-Hwa, Park, Woong-Yang, Jin, Dong-Kyu
Publicado no Am J Hum Genet (2016)

The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases

Por Mora, Marina, Angelini, Corrado, Bignami, Fabrizia, Bodin, Anne-Mary, Crimi, Marco, Di Donato, Jeanne- Hélène, Felice, Alex, Jaeger, Cécile, Karcagi, Veronika, LeCam, Yann, Lynn, Stephen, Meznaric, Marija, Moggio, Maurizio, Monaco, Lucia, Politano, Luisa, de la Paz, Manuel Posada, Saker, Safaa, Schneiderat, Peter, Ensini, Monica, Garavaglia, Barbara, Gurwitz, David, Johnson, Diana, Muntoni, Francesco, Puymirat, Jack, Reza, Mojgan, Voit, Thomas, Baldo, Chiara, Bricarelli, Franca Dagna, Goldwurm, Stefano, Merla, Giuseppe, Pegoraro, Elena, Renieri, Alessandra, Zatloukal, Kurt, Filocamo, Mirella, Lochmüller, Hanns
Publicado no Eur J Hum Genet (2015)