Chronic Rhinosinusitis: T2r38 Genotyping and Nasal Cytology in Primary Ciliary Dyskinesia
Piatti, Gioia, Ambrosetti, Umberto, Aldè, Mirko, Girotto, Giorgia, Concas, Maria P., Torretta, Sara
Published in The Laryngoscope (01.02.2023)
Published in The Laryngoscope (01.02.2023)
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In-depth genetic and molecular characterization of diaphanous related formin 2 (DIAPH2) and its role in the inner ear
Chiereghin, Chiara, Robusto, Michela, Lewis, Morag A, Caetano, Susana, Massa, Valentina, Castorina, Pierangela, Ambrosetti, Umberto, Steel, Karen P, Duga, Stefano, Asselta, Rosanna, Soldà, Giulia
Published in PloS one (01.01.2023)
Published in PloS one (01.01.2023)
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First independent replication of the involvement of LARS2 in Perrault syndrome by whole-exome sequencing of an Italian family
Soldà, Giulia, Caccia, Sonia, Robusto, Michela, Chiereghin, Chiara, Castorina, Pierangela, Ambrosetti, Umberto, Duga, Stefano, Asselta, Rosanna
Published in Journal of human genetics (01.04.2016)
Published in Journal of human genetics (01.04.2016)
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A novel mutation within the MIR96 gene causes non-syndromic inherited hearing loss in an Italian family by altering pre-miRNA processing
Soldà, Giulia, Robusto, Michela, Primignani, Paola, Castorina, Pierangela, Benzoni, Elena, Cesarani, Antonio, Ambrosetti, Umberto, Asselta, Rosanna, Duga, Stefano
Published in Human molecular genetics (01.02.2012)
Published in Human molecular genetics (01.02.2012)
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Next-generation sequencing identified SPATC1L as a possible candidate gene for both early-onset and age-related hearing loss
Morgan, Anna, Vuckovic, Dragana, Krishnamoorthy, Navaneethakrishnan, Rubinato, Elisa, Ambrosetti, Umberto, Castorina, Pierangela, Franzè, Annamaria, Vozzi, Diego, La Bianca, Martina, Cappellani, Stefania, Di Stazio, Mariateresa, Gasparini, Paolo, Girotto, Giorgia
Published in European journal of human genetics : EJHG (01.01.2019)
Published in European journal of human genetics : EJHG (01.01.2019)
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SLC22A4 Gene in Hereditary Non-syndromic Hearing Loss: Recurrence and Incomplete Penetrance of the p.C113Y Mutation in Northwest Africa
Chiereghin, Chiara, Robusto, Michela, Mauri, Lucia, Primignani, Paola, Castorina, Pierangela, Ambrosetti, Umberto, Duga, Stefano, Asselta, Rosanna, Soldà, Giulia
Published in Frontiers in genetics (10.02.2021)
Published in Frontiers in genetics (10.02.2021)
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Diagnosis of congenital CMV infection via DBS samples testing and neonatal hearing screening: an observational study in Italy
Pellegrinelli, Laura, Galli, Cristina, Primache, Valeria, Alde', Mirko, Fagnani, Enrico, Di Berardino, Federica, Zanetti, Diego, Pariani, Elena, Ambrosetti, Umberto, Binda, Sandro
Published in BMC infectious diseases (22.07.2019)
Published in BMC infectious diseases (22.07.2019)
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Unilateral Sensorineural Hearing Loss in Children: Etiology, Audiological Characteristics, and Treatment
Aldè, Mirko, Zanetti, Diego, Ambrosetti, Umberto, Monaco, Eleonora, Gasbarre, Anna Maria, Pignataro, Lorenzo, Cantarella, Giovanna, Barozzi, Stefania
Published in Children (Basel) (01.03.2024)
Published in Children (Basel) (01.03.2024)
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Journal Article
Questionnaires to evaluate anxiety and depressive levels in tinnitus patients
Crocetti, Andrea, Forti, Stella, Ambrosetti, Umberto, Bo, Luca Del
Published in Otolaryngology-head and neck surgery (01.03.2009)
Published in Otolaryngology-head and neck surgery (01.03.2009)
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Role of Cytoskeletal Diaphanous-Related Formins in Hearing Loss
Chiereghin, Chiara, Robusto, Michela, Massa, Valentina, Castorina, Pierangela, Ambrosetti, Umberto, Asselta, Rosanna, Soldà, Giulia
Published in Cells (Basel, Switzerland) (24.05.2022)
Published in Cells (Basel, Switzerland) (24.05.2022)
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Genomic Studies in a Large Cohort of Hearing Impaired Italian Patients Revealed Several New Alleles, a Rare Case of Uniparental Disomy (UPD) and the Importance to Search for Copy Number Variations
Morgan, Anna, Lenarduzzi, Stefania, Cappellani, Stefania, Pecile, Vanna, Morgutti, Marcello, Orzan, Eva, Ghiselli, Sara, Ambrosetti, Umberto, Brumat, Marco, Gajendrarao, Poornima, La Bianca, Martina, Faletra, Flavio, Grosso, Enrico, Sirchia, Fabio, Sensi, Alberto, Graziano, Claudio, Seri, Marco, Gasparini, Paolo, Girotto, Giorgia
Published in Frontiers in genetics (21.12.2018)
Published in Frontiers in genetics (21.12.2018)
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Journal Article
Chronic cerebrospinal venous insufficiency in Ménière disease
Di Berardino, Federica, Alpini, Dario Carlo, Bavera, Pietro Maria, Cecconi, Piero, Farabola, Mario, Mattei, Valentina, Ambrosetti, Umberto, Cesarani, Antonio
Published in Phlebology (01.05.2015)
Published in Phlebology (01.05.2015)
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