{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,9]],"date-time":"2025-10-09T20:56:43Z","timestamp":1760043403693},"reference-count":33,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2015,12,1]],"date-time":"2015-12-01T00:00:00Z","timestamp":1448928000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/501100004484","name":"Tehran University of Medical Sciences","doi-asserted-by":"publisher","award":["21446"],"award-info":[{"award-number":["21446"]}],"id":[{"id":"10.13039\/501100004484","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Gene"],"published-print":{"date-parts":[[2015,12]]},"DOI":"10.1016\/j.gene.2015.08.023","type":"journal-article","created":{"date-parts":[[2015,8,11]],"date-time":"2015-08-11T20:07:11Z","timestamp":1439323631000},"page":"302-307","update-policy":"http:\/\/dx.doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":8,"title":["Molecular and clinical characterization of Waardenburg syndrome type I in an Iranian cohort with two novel PAX3 mutations"],"prefix":"10.1016","volume":"574","author":[{"given":"Nazanin","family":"Jalilian","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohammad Amin","family":"Tabatabaiefar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohammad","family":"Farhadi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tayeb","family":"Bahrami","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hesam","family":"Emamdjomeh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohammad Reza","family":"Noori-Daloii","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"2","key":"10.1016\/j.gene.2015.08.023_bb0135","first-page":"103","article-title":"Apparent non-penetrance for dystopia in Waardenburg syndrome type I, with some hints on the diagnosis of dystopia canthorum","volume":"26","author":"Arias","year":"1978","journal-title":"J. Genet. Hum."},{"issue":"6361","key":"10.1016\/j.gene.2015.08.023_bb0020","doi-asserted-by":"crossref","first-page":"637","DOI":"10.1038\/355637a0","article-title":"An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome","volume":"355","author":"Baldwin","year":"1992","journal-title":"Nature"},{"issue":"3","key":"10.1016\/j.gene.2015.08.023_bb0100","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1002\/humu.1380030306","article-title":"Mutations in PAX3 associated with Waardenburg syndrome type I","volume":"3","author":"Baldwin","year":"1994","journal-title":"Hum. Mutat."},{"issue":"2","key":"10.1016\/j.gene.2015.08.023_bb0160","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1002\/ajmg.1320580205","article-title":"Mutations in PAX3 that cause Waardenburg syndrome type I: ten new mutations and review of the literature","volume":"58","author":"Baldwin","year":"1995","journal-title":"Am. J. Med. Genet."},{"issue":"13","key":"10.1016\/j.gene.2015.08.023_bb0095","doi-asserted-by":"crossref","first-page":"1907","DOI":"10.1093\/hmg\/9.13.1907","article-title":"Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndrome","volume":"9","author":"Bondurand","year":"2000","journal-title":"Hum. Mol. Genet."},{"issue":"13","key":"10.1016\/j.gene.2015.08.023_bb0040","doi-asserted-by":"crossref","first-page":"9854","DOI":"10.1074\/jbc.275.13.9854","article-title":"The COOH-terminal transactivation domain plays a key role in regulating the in vitro and in vivo function of Pax3 homeodomain","volume":"275","author":"Cao","year":"2000","journal-title":"J. Biol. Chem."},{"issue":"6","key":"10.1016\/j.gene.2015.08.023_bb0065","doi-asserted-by":"crossref","first-page":"646","DOI":"10.1159\/000353297","article-title":"Study of VSX1 mutations in patients with keratoconus in southwest Iran using PCR-single-strand conformation polymorphism\/heteroduplex analysis and sequencing method","volume":"57","author":"Dehkordi","year":"2013","journal-title":"Acta Cytol."},{"issue":"5","key":"10.1016\/j.gene.2015.08.023_bb0120","doi-asserted-by":"crossref","first-page":"499","DOI":"10.1007\/s004390050732","article-title":"Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations","volume":"102","author":"DeStefano","year":"1998","journal-title":"Hum. Genet."},{"issue":"5","key":"10.1016\/j.gene.2015.08.023_bb0050","first-page":"902","article-title":"Waardenburg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: first report of the WS consortium","volume":"50","author":"Farrer","year":"1992","journal-title":"Am. J. Hum. Genet."},{"issue":"4","key":"10.1016\/j.gene.2015.08.023_bb0140","first-page":"728","article-title":"Locus heterogeneity for Waardenburg syndrome is predictive of clinical subtypes","volume":"55","author":"Farrer","year":"1994","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.gene.2015.08.023_bb0060","first-page":"196","article-title":"A novel missense mutation of the paired box 3 gene in a Turkish family with Waardenburg syndrome type 1","volume":"19","author":"Hazan","year":"2013","journal-title":"Mol. Vis."},{"issue":"3","key":"10.1016\/j.gene.2015.08.023_bb0090","doi-asserted-by":"crossref","first-page":"282","DOI":"10.1111\/j.1399-0004.2010.01454.x","article-title":"Functional analysis of splicing mutations in MYO7A and USH2A genes","volume":"79","author":"Jaijo","year":"2011","journal-title":"Clin. Genet."},{"issue":"6","key":"10.1016\/j.gene.2015.08.023_bb0035","doi-asserted-by":"crossref","first-page":"627","DOI":"10.1111\/j.1755-148X.2008.00514.x","article-title":"Pigmentation PAX-ways: the role of Pax3 in melanogenesis, melanocyte stem cell maintenance, and disease","volume":"21","author":"Kubic","year":"2008","journal-title":"Pigment Cell Melanoma Res."},{"issue":"1","key":"10.1016\/j.gene.2015.08.023_bb0075","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1006\/geno.1993.1155","article-title":"Fluorescence in situ hybridization mapping of 25 markers on distal human chromosome 2q surrounding the human Waardenburg syndrome, type I (WS1) locus (PAX3 gene)","volume":"16","author":"Lu-Kuo","year":"1993","journal-title":"Genomics"},{"key":"10.1016\/j.gene.2015.08.023_bb0130","first-page":"17","article-title":"Clinical and molecular genetic investigation of Waardenburg syndrome type 1","volume":"1","author":"Markova","year":"2003","journal-title":"Vestn. Otorinolaringol."},{"key":"10.1016\/j.gene.2015.08.023_bb0055","series-title":"GeneReviews\u2122 [Internet]","article-title":"Waardenburg Syndrome Type I","author":"Milunsky","year":"2001"},{"issue":"2","key":"10.1016\/j.gene.2015.08.023_bb0080","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1089\/gte.2006.0531","article-title":"The value of MLPA in Waardenburg syndrome","volume":"11","author":"Milunsky","year":"2007","journal-title":"Genet. Test."},{"issue":"1","key":"10.1016\/j.gene.2015.08.023_bb0155","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1159\/000154387","article-title":"Three mutations in the paired homeodomain of PAX3 that cause Waardenburg syndrome type 1","volume":"47","author":"Morell","year":"1997","journal-title":"Hum. Hered."},{"issue":"20","key":"10.1016\/j.gene.2015.08.023_bb0010","doi-asserted-by":"crossref","first-page":"2151","DOI":"10.1056\/NEJMra050700","article-title":"Newborn hearing screening\u2014a silent revolution","volume":"354","author":"Morton","year":"2006","journal-title":"N. Engl. J. Med."},{"issue":"2","key":"10.1016\/j.gene.2015.08.023_bb0145","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1017\/S002221510011196X","article-title":"Hearing loss and Waardenburg's syndrome: implications for genetic counselling","volume":"104","author":"Newton","year":"1990","journal-title":"J. Laryngol. Otol."},{"issue":"9","key":"10.1016\/j.gene.2015.08.023_bb0150","doi-asserted-by":"crossref","first-page":"704","DOI":"10.1177\/014556130007900909","article-title":"Audiometric manifestations of Waardenburg's syndrome","volume":"79","author":"Oysu","year":"2000","journal-title":"Ear Nose Throat J."},{"issue":"4","key":"10.1016\/j.gene.2015.08.023_bb0115","doi-asserted-by":"crossref","first-page":"497","DOI":"10.1093\/hmg\/5.4.497","article-title":"Phenotypic variation in Waardenburg syndrome: mutational heterogeneity, modifier genes or polygenic background?","volume":"5","author":"Pandya","year":"1996","journal-title":"Hum. Mol. Genet."},{"issue":"4","key":"10.1016\/j.gene.2015.08.023_bb0085","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1002\/humu.21211","article-title":"Review and update of mutations causing Waardenburg syndrome","volume":"31","author":"Pingault","year":"2010","journal-title":"Hum. Mutat."},{"issue":"8","key":"10.1016\/j.gene.2015.08.023_bb0005","doi-asserted-by":"crossref","first-page":"656","DOI":"10.1136\/jmg.34.8.656","article-title":"Waardenburg syndrome","volume":"34","author":"Read","year":"1997","journal-title":"J. Med. Genet."},{"issue":"1","key":"10.1016\/j.gene.2015.08.023_bb0030","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1038\/nrc1778","article-title":"A PANorama of PAX genes in cancer and development","volume":"6","author":"Robson","year":"2006","journal-title":"Nat. Rev. Cancer"},{"issue":"1","key":"10.1016\/j.gene.2015.08.023_bb0045","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1076\/1381-6810(200003)2111-IFT025","article-title":"Identification of a novel mutation in the paired domain of PAX3 in an Iranian family with waardenburg syndrome type I","volume":"21","author":"Sotirova","year":"2000","journal-title":"Ophthalmic Genet."},{"issue":"2","key":"10.1016\/j.gene.2015.08.023_bb0070","first-page":"34","article-title":"Genetic linkage analysis of 15 DFNB loci in a group of Iranian families with autosomal recessive hearing loss","volume":"40","author":"Tabatabaiefar","year":"2011","journal-title":"Iran J. Public Health"},{"issue":"6361","key":"10.1016\/j.gene.2015.08.023_bb0025","doi-asserted-by":"crossref","first-page":"635","DOI":"10.1038\/355635a0","article-title":"Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene","volume":"355","author":"Tassabehji","year":"1992","journal-title":"Nature"},{"issue":"11","key":"10.1016\/j.gene.2015.08.023_bb0165","doi-asserted-by":"crossref","first-page":"2131","DOI":"10.1093\/hmg\/4.11.2131","article-title":"The mutational spectrum in Waardenburg syndrome","volume":"4","author":"Tassabehji","year":"1995","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.gene.2015.08.023_bb0105","first-page":"1146","article-title":"PAX3 mutations and clinical characteristics in Chinese patients with Waardenburg syndrome type 1","volume":"16","author":"Wang","year":"2010","journal-title":"Mol. Vis."},{"issue":"3","key":"10.1016\/j.gene.2015.08.023_bb0125","doi-asserted-by":"crossref","DOI":"10.1136\/bmjopen-2012-001917","article-title":"Spectrum of novel mutations found in Waardenburg syndrome types 1 and 2: implications for molecular genetic diagnostics","volume":"3","author":"Wildhardt","year":"2013","journal-title":"BMJ Open"},{"issue":"1","key":"10.1016\/j.gene.2015.08.023_bb0110","doi-asserted-by":"crossref","first-page":"46","DOI":"10.1097\/00029330-200701010-00009","article-title":"Nonsense mutations in the PAX3 gene cause Waardenburg syndrome type I in two Chinese patients","volume":"120","author":"Yang","year":"2007","journal-title":"Chin. Med. J."},{"issue":"1","key":"10.1016\/j.gene.2015.08.023_bb0015","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1111\/coa.12312","article-title":"Waardenburg syndrome: more common than you think!","volume":"40","author":"Zaman","year":"2015","journal-title":"Clin. Otolaryngol."}],"container-title":["Gene"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0378111915009919?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0378111915009919?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,8,29]],"date-time":"2019-08-29T07:32:44Z","timestamp":1567063964000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0378111915009919"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,12]]},"references-count":33,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2015,12]]}},"alternative-id":["S0378111915009919"],"URL":"https:\/\/doi.org\/10.1016\/j.gene.2015.08.023","relation":{},"ISSN":["0378-1119"],"issn-type":[{"value":"0378-1119","type":"print"}],"subject":[],"published":{"date-parts":[[2015,12]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Molecular and clinical characterization of Waardenburg syndrome type I in an Iranian cohort with two novel PAX3 mutations","name":"articletitle","label":"Article Title"},{"value":"Gene","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.gene.2015.08.023","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2015 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}