{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,8]],"date-time":"2026-06-08T22:24:39Z","timestamp":1780957479607,"version":"3.54.1"},"reference-count":23,"publisher":"Elsevier BV","issue":"1-2","license":[{"start":{"date-parts":[[2004,10,1]],"date-time":"2004-10-01T00:00:00Z","timestamp":1096588800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Hearing Research"],"published-print":{"date-parts":[[2004,10]]},"DOI":"10.1016\/j.heares.2004.07.001","type":"journal-article","created":{"date-parts":[[2004,8,27]],"date-time":"2004-08-27T20:59:33Z","timestamp":1093640373000},"page":"115-118","source":"Crossref","is-referenced-by-count":21,"title":["Screening for monogenetic del(GJB6-D13S1830) and digenic del(GJB6-D13S1830)\/GJB2 patterns of inheritance in deaf individuals from Eastern Austria"],"prefix":"10.1016","volume":"196","author":[{"given":"Klemens","family":"Frei","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reinhard","family":"Ramsebner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Trevor","family":"Lucas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wolf-Dieter","family":"Baumgartner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian","family":"Schoefer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Franz J.","family":"Wachtler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karin","family":"Kirschhofer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"1","key":"10.1016\/j.heares.2004.07.001_bib1","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1136\/jmg.37.1.41","article-title":"Prevalent connexin 26 gene (GJB2) mutations in Japanese","volume":"37","author":"Abe","year":"2000","journal-title":"J. Med. Genet."},{"issue":"1\u20132","key":"10.1016\/j.heares.2004.07.001_bib2","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1016\/S0378-5955(03)00346-0","article-title":"Phenotypic variability of non-syndromic hearing loss in patients heterozygous for both c.35delG of GJB2 and the 342-kb deletion involving GJB6","volume":"188","author":"Bolz","year":"2004","journal-title":"Hear. Res."},{"key":"10.1016\/j.heares.2004.07.001_bib3","series-title":"Hereditary Hearing Loss and its Syndromes","first-page":"9","article-title":"Epidemiology, etiology and genetic patterns","author":"Cohen","year":"1995"},{"issue":"4","key":"10.1016\/j.heares.2004.07.001_bib4","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1056\/NEJMoa012052","article-title":"A deletion involving the connexin 30 gene in nonsyndromic hearing impairment","volume":"346","author":"del Castillo","year":"2002","journal-title":"N. Engl. J. Med."},{"issue":"6","key":"10.1016\/j.heares.2004.07.001_bib5","doi-asserted-by":"crossref","first-page":"1452","DOI":"10.1086\/380205","article-title":"Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study","volume":"73","author":"del Castillo","year":"2003","journal-title":"Am. J. Hum. Genet."},{"issue":"12","key":"10.1016\/j.heares.2004.07.001_bib6","doi-asserted-by":"crossref","first-page":"2173","DOI":"10.1093\/hmg\/6.12.2173","article-title":"Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene","volume":"6","author":"Denoyelle","year":"1997","journal-title":"Hum. Mol. Genet."},{"issue":"6683","key":"10.1016\/j.heares.2004.07.001_bib7","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1038\/30639","article-title":"Connexin 26 gene linked to a dominant deafness","volume":"393","author":"Denoyelle","year":"1998","journal-title":"Nature"},{"issue":"9100","key":"10.1016\/j.heares.2004.07.001_bib8","doi-asserted-by":"crossref","first-page":"394","DOI":"10.1016\/S0140-6736(97)11124-2","article-title":"Connexin-26 mutations in sporadic and inherited sensorineural deafness","volume":"351","author":"Estivill","year":"1998","journal-title":"Lancet"},{"issue":"6","key":"10.1016\/j.heares.2004.07.001_bib9","doi-asserted-by":"crossref","first-page":"409","DOI":"10.3109\/03005364000000037","article-title":"Epidemiology of permanent childhood hearing impairment in Trent Region, 1985\u20131993","volume":"31","author":"Fortnum","year":"1997","journal-title":"Br. J. Audiol."},{"issue":"7","key":"10.1016\/j.heares.2004.07.001_bib10","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1038\/sj.ejhg.5200826","article-title":"Connexin 26 mutations in cases of sensorineural deafness in eastern Austria","volume":"10","author":"Frei","year":"2002","journal-title":"Eur. J. Hum. Genet."},{"issue":"2","key":"10.1016\/j.heares.2004.07.001_bib11","doi-asserted-by":"crossref","first-page":"180","DOI":"10.1002\/humu.9167","article-title":"The 342-kb deletion in GJB6 is not present in patients with non-syndromic hearing loss from Austria","volume":"22","author":"Gunther","year":"2003","journal-title":"Hum. Mutat."},{"issue":"1","key":"10.1016\/j.heares.2004.07.001_bib12","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1038\/12612","article-title":"Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus","volume":"23","author":"Grifa","year":"1999","journal-title":"Nat. Genet."},{"key":"10.1016\/j.heares.2004.07.001_bib13","doi-asserted-by":"crossref","first-page":"792","DOI":"10.1086\/301807","article-title":"Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss","volume":"62","author":"Kelley","year":"1998","journal-title":"Am. J. Hum. Genet."},{"issue":"6628","key":"10.1016\/j.heares.2004.07.001_bib14","doi-asserted-by":"crossref","first-page":"80","DOI":"10.1038\/387080a0","article-title":"Connexin 26 mutations in hereditary non-syndromic sensorineural deafness","volume":"387","author":"Kelsell","year":"1997","journal-title":"Nature"},{"key":"10.1016\/j.heares.2004.07.001_bib15","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1007\/s004410051192","article-title":"Expression of the gap-junction connexins 26 and 30 in the rat cochlea","volume":"294","author":"Lautermann.","year":"1998","journal-title":"Cell Tissue Res."},{"issue":"5","key":"10.1016\/j.heares.2004.07.001_bib16","doi-asserted-by":"crossref","first-page":"460","DOI":"10.1002\/humu.1222","article-title":"A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: A novel founder mutation in Ashkenazi Jews","volume":"18","author":"Lerer","year":"2001","journal-title":"Hum. Mutat."},{"issue":"8","key":"10.1016\/j.heares.2004.07.001_bib17","doi-asserted-by":"crossref","first-page":"927","DOI":"10.1001\/archotol.127.8.927","article-title":"Connexin 26 gene mutations in congenitally deaf children: pitfalls for genetic counseling","volume":"127","author":"Marlin","year":"2001","journal-title":"Arch. Otolaryngol. Head Neck Surg."},{"key":"10.1016\/j.heares.2004.07.001_bib18","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1111\/j.1749-6632.1991.tb19572.x","article-title":"Genetic epidemiology of hearing impairment","volume":"630","author":"Morton","year":"1991","journal-title":"Ann. N. Y. Acad. Sci."},{"issue":"11","key":"10.1016\/j.heares.2004.07.001_bib19","first-page":"829","article-title":"Cx26 deafness: mutation analysis and clinical variability","volume":"36","author":"Murgia","year":"1999","journal-title":"J. Med. Genet."},{"issue":"1","key":"10.1016\/j.heares.2004.07.001_bib20","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1038\/sj.ejhg.5200762","article-title":"A large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect?","volume":"10","author":"Pallares-Ruiz","year":"2002","journal-title":"Eur. J. Hum. Genet."},{"issue":"5","key":"10.1016\/j.heares.2004.07.001_bib21","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1002\/(SICI)1098-1004(1998)11:5<387::AID-HUMU6>3.0.CO;2-8","article-title":"Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss","volume":"11","author":"Scott","year":"1998","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.heares.2004.07.001_bib22","doi-asserted-by":"crossref","unstructured":"Teubner, B., Michel, V., Pesch, J., Lautermann, J., Cohen-Salmon, M., Sohl, G., Jahnke, K., Winterhager, E., Herberhold, C., Hardelin, J.P., Petit, C., Willecke, K., 2003. Connexin30 (Gjb6)-deficiency causes severe hearing impairment and lack of endocochlear potential. Hum. Mol. Genet. 1;12(1), 13\u201321","DOI":"10.1093\/hmg\/ddg001"},{"issue":"1","key":"10.1016\/j.heares.2004.07.001_bib23","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1034\/j.1399-0004.2003.00101.x","article-title":"Frequencies of gap- and tight-junction mutations in Turkish families with autosomal-recessive non-syndromic hearing loss","volume":"64","author":"Uyguner","year":"2003","journal-title":"Clin. Genet."}],"container-title":["Hearing Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0378595504002217?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0378595504002217?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2020,4,3]],"date-time":"2020-04-03T01:55:34Z","timestamp":1585878934000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0378595504002217"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,10]]},"references-count":23,"journal-issue":{"issue":"1-2","published-print":{"date-parts":[[2004,10]]}},"alternative-id":["S0378595504002217"],"URL":"https:\/\/doi.org\/10.1016\/j.heares.2004.07.001","relation":{},"ISSN":["0378-5955"],"issn-type":[{"value":"0378-5955","type":"print"}],"subject":[],"published":{"date-parts":[[2004,10]]}}}