<?xml version="1.0" encoding="UTF-8"?><xml><records><record><source-app name="Biblio" version="7.x">Drupal-Biblio</source-app><ref-type>17</ref-type><contributors><authors><author><style face="normal" font="default" size="100%">Chinetti, Viviana</style></author><author><style face="normal" font="default" size="100%">Iossa, Sandra</style></author><author><style face="normal" font="default" size="100%">Auletta, Gennaro</style></author><author><style face="normal" font="default" size="100%">Laria, Carla</style></author><author><style face="normal" font="default" size="100%">De Luca, Maria</style></author><author><style face="normal" font="default" size="100%">Di Leva, Francesca</style></author><author><style face="normal" font="default" size="100%">Riccardi, Pasquale</style></author><author><style face="normal" font="default" size="100%">Giannini, Pasquale</style></author><author><style face="normal" font="default" size="100%">Gasparini, Paolo</style></author><author><style face="normal" font="default" size="100%">Ciccodicola, Alfredo</style></author><author><style face="normal" font="default" size="100%">Marciano, Elio</style></author><author><style face="normal" font="default" size="100%">Franzè, Annamaria</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">Screening for GJB2 and GJB6 gene mutations in patients from Campania region with sensorineural hearing loss.</style></title><secondary-title><style face="normal" font="default" size="100%">Int J Audiol</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Int J Audiol</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Acoustic Stimulation</style></keyword><keyword><style  face="normal" font="default" size="100%">Adolescent</style></keyword><keyword><style  face="normal" font="default" size="100%">Adult</style></keyword><keyword><style  face="normal" font="default" size="100%">Audiometry</style></keyword><keyword><style  face="normal" font="default" size="100%">Auditory Perception</style></keyword><keyword><style  face="normal" font="default" size="100%">Child</style></keyword><keyword><style  face="normal" font="default" size="100%">Child, Preschool</style></keyword><keyword><style  face="normal" font="default" size="100%">Connexins</style></keyword><keyword><style  face="normal" font="default" size="100%">Genetic Predisposition to Disease</style></keyword><keyword><style  face="normal" font="default" size="100%">Genetic Testing</style></keyword><keyword><style  face="normal" font="default" size="100%">Hearing Loss, Sensorineural</style></keyword><keyword><style  face="normal" font="default" size="100%">Heterozygote</style></keyword><keyword><style  face="normal" font="default" size="100%">Homozygote</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Italy</style></keyword><keyword><style  face="normal" font="default" size="100%">Mass Screening</style></keyword><keyword><style  face="normal" font="default" size="100%">Middle Aged</style></keyword><keyword><style  face="normal" font="default" size="100%">Mutation</style></keyword><keyword><style  face="normal" font="default" size="100%">Phenotype</style></keyword><keyword><style  face="normal" font="default" size="100%">Risk Factors</style></keyword><keyword><style  face="normal" font="default" size="100%">Severity of Illness Index</style></keyword><keyword><style  face="normal" font="default" size="100%">Young Adult</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2010</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2010 Apr</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">49</style></volume><pages><style face="normal" font="default" size="100%">326-31</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;The aim of this study was to screen 349 patients affected by sensorineural hearing loss (SNHL), mostly from the Campania region (southern Italy), for GJB2 gene mutations and for two deletions of the GJB6 gene (del GJB6 -D13S1830 and del GJB6 -D13S1854). We identified pathogenetic GJB2 mutations in 51 cases (15% of patients). No GJB6 mutation was found. We also examined the audiologic features of the patients for whom we had an etiologic diagnosis, in order to identify correlations between the severity of hearing loss and the type of mutation.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">4</style></issue><custom1><style face="normal" font="default" size="100%">http://www.ncbi.nlm.nih.gov/pubmed/20233142?dopt=Abstract</style></custom1></record></records></xml>