X-Linked Sensorineural Hearing Loss: A Literature Review
Corvino, Virginia, Apisa, Pasqualina, Malesci, Rita, Laria, Carla, Auletta, Gennaro, Franzé, Annamaria
Published in Current genomics (01.08.2018)
Published in Current genomics (01.08.2018)
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Performance and characteristics of the Newborn Hearing Screening Program in Campania region (Italy) between 2013 and 2019
Malesci, Rita, Del Vecchio, Valeria, Bruzzese, Dario, Burattini, Ernesto, Auletta, Gennaro, Errichiello, Monica, Fetoni, Anna Rita, Franzè, Annamaria, Laria, Carla, Toscano, Fabiana, Caso, Antonio, Marciano, Elio
Published in European archives of oto-rhino-laryngology (01.03.2022)
Published in European archives of oto-rhino-laryngology (01.03.2022)
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Whole-genome sequencing reveals new insights into age-related hearing loss: cumulative effects, pleiotropy and the role of selection
Vuckovic, Dragana, Mezzavilla, Massimo, Cocca, Massimiliano, Morgan, Anna, Brumat, Marco, Catamo, Eulalia, Concas, Maria Pina, Biino, Ginevra, Franzè, Annamaria, Ambrosetti, Umberto, Pirastu, Mario, Gasparini, Paolo, Girotto, Giorgia
Published in European journal of human genetics : EJHG (01.08.2018)
Published in European journal of human genetics : EJHG (01.08.2018)
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Journal Article
Bimodal strategy for excellent audiological rehabilitation in a subject with a novel nonsense mutation of the SLC26A4 gene: A case report
Malesci, Rita, Russo, Roberta, Monzillo, Carmela, Laria, Carla, Corvino, Virginia, Auletta, Gennaro, Iolascon, Achille, Franzè, Annamaria
Published in International journal of pediatric otorhinolaryngology (01.07.2020)
Published in International journal of pediatric otorhinolaryngology (01.07.2020)
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Journal Article
Intragenic Deletion in MACROD2: A Family with Complex Phenotypes Including Microcephaly, Intellectual Disability, Polydactyly, Renal and Pancreatic Malformations
Lombardo, Barbara, Esposito, Daniela, Iossa, Sandra, Vitale, Andrea, Verdesca, Francesco, Perrotta, Carla, Di Leo, Luca, Costa, Valerio, Pastore, Lucio, Franzé, Annamaria
Published in Cytogenetic and genome research (01.01.2019)
Published in Cytogenetic and genome research (01.01.2019)
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Genetic characterization of Italian patients with Bardet-Biedl syndrome and correlation to ocular, renal and audio-vestibular phenotype: identification of eleven novel pathogenic sequence variants
Esposito, Gabriella, Testa, Francesco, Zacchia, Miriam, Crispo, Anna Alessia, Di Iorio, Valentina, Capolongo, Giovanna, Rinaldi, Luca, D'Antonio, Marcella, Fioretti, Tiziana, Iadicicco, Pasquale, Rossi, Settimio, Franzè, Annamaria, Marciano, Elio, Capasso, Giovanbattista, Simonelli, Francesca, Salvatore, Francesco
Published in BMC medical genetics (01.02.2017)
Published in BMC medical genetics (01.02.2017)
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Novel compound heterozygous mutations in BCS1L gene causing Bjornstad syndrome in two siblings
Falco, Mariateresa, Franzè, Annamaria, Iossa, Sandra, De Falco, Luigia, Gambale, Antonella, Marciano, Elio, Iolascon, Achille
Published in American journal of medical genetics. Part A (01.05.2017)
Published in American journal of medical genetics. Part A (01.05.2017)
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Journal Article
Connexin 26 variant carriers have a better gastrointestinal health: is this the heterozygote advantage?
Vuckovic, Dragana, Dallapiccola, Bruno, Franzè, Annamaria, Mauri, Lucia, Perrone, Maria Dolores, Gasparini, Paolo
Published in European journal of human genetics : EJHG (06.08.2014)
Published in European journal of human genetics : EJHG (06.08.2014)
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Journal Article
Integrated Bimodal Fitting for Unilateral CI Users with Residual Contralateral Hearing
Auletta, Gennaro, Franzè, Annamaria, Laria, Carla, Piccolo, Carmine, Papa, Carmine, Riccardi, Pasquale, Pisani, Davide, Sarnelli, Angelo, Del Vecchio, Valeria, Malesci, Rita, Marciano, Elio
Published in Audiology research (Pavia, Italy) (12.05.2021)
Published in Audiology research (Pavia, Italy) (12.05.2021)
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SLC26A4 genotypes associated with enlarged vestibular aqueduct malformation in south Italian children with sensorineural hearing loss
Franzè, Annamaria, Esposito, Gabriella, Di Domenico, Carmela, Iossa, Sandra, Sauchelli, Giuliana, Fioretti, Tiziana, Cavaliere, Michele, Auletta, Gennaro, Corvino, Virginia, Laria, Carla, Malesci, Rita, Marciano, Elio, Salvatore, Francesco
Published in Clinical chemistry and laboratory medicine (01.09.2016)
Published in Clinical chemistry and laboratory medicine (01.09.2016)
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Feasibility and effectiveness of a population-based newborn hearing screening in an economically deprived region of Italy
Pisacane, Alfredo, Auletta, Gennaro, Toscano, Fabiana, Errichiello, Monica, Barrier, Francoise, Riccardi, Pasquale, Laria, Carla, Malesci, Rita, Continisio, Grazia Isabella, Continisio, Paola, Barruffo, Luigi, Franzè, Annamaria, Marciano, Elio
Published in International journal of pediatric otorhinolaryngology (01.03.2013)
Published in International journal of pediatric otorhinolaryngology (01.03.2013)
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Journal Article
Phenotypic and genetic characterization of a family carrying two Xq21.1-21.3 interstitial deletions associated with syndromic hearing loss
Iossa, Sandra, Costa, Valerio, Corvino, Virginia, Auletta, Gennaro, Barruffo, Luigi, Cappellani, Stefania, Ceglia, Carlo, Cennamo, Giovanni, D'Adamo, Adamo Pio, D'Amico, Alessandra, Di Paolo, Nilde, Forte, Raimondo, Gasparini, Paolo, Laria, Carla, Lombardo, Barbara, Malesci, Rita, Vitale, Andrea, Marciano, Elio, Franzè, Annamaria
Published in Molecular cytogenetics (20.03.2015)
Published in Molecular cytogenetics (20.03.2015)
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New evidence for the correlation of the p.G130V mutation in the GJB2 gene and syndromic hearing loss with palmoplantar keratoderma
Iossa, Sandra, Chinetti, Viviana, Auletta, Gennaro, Laria, Carla, De Luca, Maria, Rienzo, Monica, Giannini, Pasquale, Delfino, Mario, Ciccodicola, Alfredo, Marciano, Elio, Franzé, Annamaria
Published in American journal of medical genetics. Part A (01.04.2009)
Published in American journal of medical genetics. Part A (01.04.2009)
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Journal Article
Very good performance with bimodal stimulation in a like-hybrid modality in a patient with profound bilateral sensorineural hearing loss with low-frequencies preservation
Laria, Carla, MD, Auletta, Gennaro, MD, Riccardi, Pasquale, PhD, Papa, Carmine, MD, Malesci, Rita, MD, Franzé, Annamaria, PhD, Marciano, Elio, MD
Published in American journal of otolaryngology (2014)
Published in American journal of otolaryngology (2014)
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Journal Article
Mutational analysis for GJB2, GJB6, and GJB3 genes in Campania within a universal neonatal hearing screening programme
Chinetti, Viviana, Iossa, Sandra, Auletta, Gennaro, Corvino, Virginia, De Luca, Maria, De Falco, Francesca, Giannini, Pasquale, Lilli, Giorgio, Malesci, Rita, Riccardi, Pasquale, Marciano, Elio, Franzè, Annamaria
Published in International journal of audiology (01.12.2011)
Published in International journal of audiology (01.12.2011)
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Journal Article
Exclusion of TNFRSF11B as Candidate Gene for Otosclerosis in Campania Population
Iossa, Sandra, Morello, Giovanna, Esposito, Teresa, Corvino, Virginia, Giannini, Pasquale, Salvato, Raffaella, Cavaliere, Michele, Panetti, Maria, Panetti, Giuseppe, Piantedosi, Bruno, Gianfrancesco, Fernando, Marciano, Elio, Franzè, Annamaria
Published in Indian journal of otolaryngology, and head, and neck surgery (01.09.2014)
Published in Indian journal of otolaryngology, and head, and neck surgery (01.09.2014)
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Journal Article
Screening for GJB2 and GJB6 gene mutations in patients from Campania region with sensorineural hearing loss
Chinetti, Viviana, Iossa, Sandra, Auletta, Gennaro, Laria, Carla, De Luca, Maria, Di Leva, Francesca, Riccardi, Pasquale, Giannini, Pasquale, Gasparini, Paolo, Ciccodicola, Alfredo, Marciano, Elio, Franzè, Annamaria
Published in International journal of audiology (01.04.2010)
Published in International journal of audiology (01.04.2010)
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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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