A novel mutation within the MIR96 gene causes non-syndromic inherited hearing loss in an Italian family by altering pre-miRNA processing

av Soldà, Giulia, Robusto, Michela, Primignani, Paola, Castorina, Pierangela, Benzoni, Elena, Cesarani, Antonio, Ambrosetti, Umberto, Asselta, Rosanna, Duga, Stefano
Publicerad 2012

SLC22A4 Gene in Hereditary Non-syndromic Hearing Loss: Recurrence and Incomplete Penetrance of the p.C113Y Mutation in Northwest Africa

av Chiereghin, Chiara, Robusto, Michela, Mauri, Lucia, Primignani, Paola, Castorina, Pierangela, Ambrosetti, Umberto, Duga, Stefano, Asselta, Rosanna, Soldà, Giulia
I publikationen Front Genet (2021)

DJ1 analysis in a large cohort of Italian early onset Parkinson Disease patients()

av Sironi, Francesca, Primignani, Paola, Ricca, Sara, Tunesi, Sara, Zini, Michela, Tesei, Silvana, Cilia, Roberto, Pezzoli, Gianni, Seia, Manuela, Goldwurm, Stefano
Publicerad 2013

The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy

av Robusto, Michela, Fang, Mingyan, Asselta, Rosanna, Castorina, Pierangela, Previtali, Stefano C, Caccia, Sonia, Benzoni, Elena, De Cristofaro, Raimondo, Yu, Cong, Cesarani, Antonio, Liu, Xuanzhu, Li, Wangsheng, Primignani, Paola, Ambrosetti, Umberto, Xu, Xun, Duga, Stefano, Soldà, Giulia
I publikationen Eur J Hum Genet (2015)

Workload measurement for molecular genetics laboratory: A survey study

av 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
I publikationen PLoS One (2018)

Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene

av Hilgert, Nele, Huentelman, Matthew J, Thorburn, Ashley Q, Fransen, Erik, Dieltjens, Nele, Mueller-Malesinska, Malgorzata, Pollak, Agnieszka, Skorka, Agata, Waligora, Jaroslaw, Ploski, Rafal, Castorina, Pierangela, Primignani, Paola, Ambrosetti, Umberto, Murgia, Alessandra, Orzan, Eva, Pandya, Arti, Arnos, Kathleen, Norris, Virginia, Seeman, Pavel, Janousek, Petr, Feldmann, Delphine, Marlin, Sandrine, Denoyelle, Françoise, Nishimura, Carla J, Janecke, Andreas, Nekahm-Heis, Doris, Martini, Alessandro, Mennucci, Elena, Tóth, Timea, Sziklai, Istvan, del Castillo, Ignacio, Moreno, Felipe, Petersen, Michael B, Iliadou, Vasiliki, Tekin, Mustafa, Incesulu, Armagan, Nowakowska, Ewa, Bal, Jerzy, Van de Heyning, Paul, Roux, Anne-Françoise, Blanchet, Catherine, Goizet, Cyril, Lancelot, Guenaëlle, Fialho, Graça, Caria, Helena, Liu, Xue Zhong, Xiaomei, Ouyang, Govaerts, Paul, Grønskov, Karen, Hostmark, Karianne, Frei, Klemens, Dhooge, Ingeborg, Vlaeminck, Stephen, Kunstmann, Erdmute, Van Laer, Lut, Smith, Richard JH, Van Camp, Guy
Publicerad 2009