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International Journal of Audiology Volume 49, 2010 - Issue 4
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Original Article

Screening for GJB2 and GJB6 gene mutations in patients from Campania region with sensorineural hearing loss

Viviana Chinetti CEINGE-Biotecnologie Avanzate, Naples, Italy; Unità di Audiologia, Dipartimento di Neuroscienze, Universit à di Napoli ‘Federico II’, Naples, Italy; Joint first authors
,
Sandra Iossa CEINGE-Biotecnologie Avanzate, Naples, Italy; Unità di Audiologia, Dipartimento di Neuroscienze, Universit à di Napoli ‘Federico II’, Naples, Italy; Joint first authors
,
Gennaro Auletta Unità di Audiologia, Dipartimento di Neuroscienze, Universit à di Napoli ‘Federico II’, Naples, Italy
,
Carla Laria Unità di Audiologia, Dipartimento di Neuroscienze, Universit à di Napoli ‘Federico II’, Naples, Italy
,
Maria de Luca Unità di Audiologia, Dipartimento di Neuroscienze, Universit à di Napoli ‘Federico II’, Naples, Italy
,
Francesca Di Leva Unità di Audiologia, Dipartimento di Neuroscienze, Universit à di Napoli ‘Federico II’, Naples, Italy; Istituto di Genetica e Biofisica ‘A. Buzzati Traverso’, C.N.R., Naples, Italy
,
Pasquale Riccardi Unità di Audiologia, Dipartimento di Neuroscienze, Universit à di Napoli ‘Federico II’, Naples, Italy
,
Pasquale Giannini Unità di Audiologia, Dipartimento di Neuroscienze, Universit à di Napoli ‘Federico II’, Naples, Italy
,
Paolo Gasparini Genetica Medica, Dipartimento di Scienze della Riproduzione e dello Sviluppo, IRCCS-Burlo Garofolo, Universit à degli Studi di Trieste, Italy
,
Alfredo Ciccodicola Istituto di Genetica e Biofisica ‘A. Buzzati Traverso’, C.N.R., Naples, Italy
,
Elio Marciano Unità di Audiologia, Dipartimento di Neuroscienze, Universit à di Napoli ‘Federico II’, Naples, Italy
&
Annamaria Franzè CEINGE-Biotecnologie Avanzate, Naples, Italy; Istituto di Genetica e Biofisica ‘A. Buzzati Traverso’, C.N.R., Naples, ItalyCorrespondence[email protected]
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Pages 326-331 | Received 19 Nov 2008, Accepted 07 Jan 2010, Published online: 17 Mar 2010

Citations (7)

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Viviana Chinetti, Sandra Iossa, Gennaro Auletta, Virginia Corvino, Maria De Luca, Francesca De Falco, Pasquale Giannini, Giorgio Lilli, Rita Malesci, Pasquale Riccardi, Elio Marciano & Annamaria Franzè. (2011) Mutational analysis for GJB2, GJB6, and GJB3 genes in Campania within a universal neonatal hearing screening programme. International Journal of Audiology 50:12, pages 866-870.
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Articles from other publishers (6)

Ignacio del Castillo, Matías Morín, María Domínguez-Ruiz & Miguel A. Moreno-Pelayo. (2022) Genetic etiology of non-syndromic hearing loss in Europe. Human Genetics 141:3-4, pages 683-696.
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Annamaria Franzè, Gabriella Esposito, Carmela Di Domenico, Sandra Iossa, Giuliana Sauchelli, Tiziana Fioretti, Michele Cavaliere, Gennaro Auletta, Virginia Corvino, Carla Laria, Rita Malesci, Elio Marciano & Francesco Salvatore. (2016) SLC26A4 genotypes associated with enlarged vestibular aqueduct malformation in south Italian children with sensorineural hearing loss. Clinical Chemistry and Laboratory Medicine (CCLM) 0:0.
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Sandra Iossa, Valerio Costa, Virginia Corvino, Gennaro Auletta, Luigi Barruffo, Stefania Cappellani, Carlo Ceglia, Giovanni Cennamo, Adamo Pio D’Adamo, Alessandra D’Amico, Nilde Di Paolo, Raimondo Forte, Paolo Gasparini, Carla Laria, Barbara Lombardo, Rita Malesci, Andrea Vitale, Elio Marciano & Annamaria Franzè. (2015) Phenotypic and genetic characterization of a family carrying two Xq21.1-21.3 interstitial deletions associated with syndromic hearing loss. Molecular Cytogenetics 8:1.
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Dylan K. Chan & Kay W. Chang. (2014) GJB2-associated hearing loss: Systematic review of worldwide prevalence, genotype, and auditory phenotype. The Laryngoscope 124:2, pages E34-E53.
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Ö Tarkan, P Sari, O Demirhan, M Kiroğlu, Ü Tuncer, Ö Sürmelioğlu, S Özdemir, M B Yilmaz & K Kara. (2012) Connexin 26 and 30 mutations in paediatric patients with congenital, non-syndromic hearing loss treated with cochlear implantation in Mediterranean Turkey. The Journal of Laryngology & Otology 127:1, pages 33-37.
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Sandra Iossa, Viviana Chinetti, Virginia Corvino, Elio Marciano & Annamaria Franzè. (2010) R75Q dominant mutation in GJB2 gene silenced by the in cis recessive mutation c.35delG. American Journal of Medical Genetics Part A 152A:10, pages 2658-2660.
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