| http://purl.uniprot.org/citations/27308839 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/27308839 | http://www.w3.org/2000/01/rdf-schema#comment | "PurposeThe feasibility of genetic screening for deafness-causing mutations in newborns has been reported in several studies. The aim of this study was to investigate the long-term results in those who screened positive for deafness mutations; these results are crucial to determine the cost-effectiveness to justify population-wide genetic screening.MethodsWe performed simultaneous hearing screening and genetic screening targeting four common deafness mutations (p.V37I and c.235delC of GJB2, c.919-2A>G of SLC26A4, and the mitochondrial m.1555A>G) in 5173 newborns at a tertiary hospital between 2009 and 2015. Serial audiometric results up to 6 years old were then analyzed in children with conclusive genotypes.ResultsNewborn genetic screening identified 82 (1.6%) babies with conclusive genotypes, comprising 62 (1.2%) with GJB2 p.V37I/p.V37I, 16 (0.3%) with GJB2 p.V37I/c.235delC, and 4 (0.1%) with m.1555A>G. Of these, 46 (56.1%) passed hearing screening at birth. Long-term follow-up demonstrated progressive hearing loss in children with the GJB2 p.V37I/p.V37I and p.V37I/c.235delC genotypes; this hearing loss deteriorated by approximately 1 decibel hearing level (dBHL) per year.ConclusionsWe delineated the longitudinal auditory features of the highly prevalent GJB2 p.V37I mutation on a general population basis and confirmed the utility of newborn genetic screening in identifying infants with late-onset or progressive hearing impairment undetectable by newborn hearing screening.Genet Med 19 1, 6-12."xsd:string |
| http://purl.uniprot.org/citations/27308839 | http://purl.org/dc/terms/identifier | "doi:10.1038/gim.2016.66"xsd:string |
| http://purl.uniprot.org/citations/27308839 | http://purl.uniprot.org/core/author | "Hung C.C."xsd:string |
| http://purl.uniprot.org/citations/27308839 | http://purl.uniprot.org/core/author | "Tsai C.H."xsd:string |
| http://purl.uniprot.org/citations/27308839 | http://purl.uniprot.org/core/author | "Lin Y.H."xsd:string |
| http://purl.uniprot.org/citations/27308839 | http://purl.uniprot.org/core/author | "Lin Y.H.'"xsd:string |
| http://purl.uniprot.org/citations/27308839 | http://purl.uniprot.org/core/author | "Wu C.C."xsd:string |
| http://purl.uniprot.org/citations/27308839 | http://purl.uniprot.org/core/author | "Huang F.L."xsd:string |
| http://purl.uniprot.org/citations/27308839 | http://purl.uniprot.org/core/author | "Lee Y.L."xsd:string |
| http://purl.uniprot.org/citations/27308839 | http://purl.uniprot.org/core/author | "Su Y.N."xsd:string |
| http://purl.uniprot.org/citations/27308839 | http://purl.uniprot.org/core/author | "Hsu C.J."xsd:string |
| http://purl.uniprot.org/citations/27308839 | http://purl.uniprot.org/core/author | "Hsieh W.S."xsd:string |
| http://purl.uniprot.org/citations/27308839 | http://purl.uniprot.org/core/author | "Tsao P.N."xsd:string |
| http://purl.uniprot.org/citations/27308839 | http://purl.uniprot.org/core/date | "2017"xsd:gYear |
| http://purl.uniprot.org/citations/27308839 | http://purl.uniprot.org/core/name | "Genet Med"xsd:string |
| http://purl.uniprot.org/citations/27308839 | http://purl.uniprot.org/core/pages | "6-12"xsd:string |
| http://purl.uniprot.org/citations/27308839 | http://purl.uniprot.org/core/title | "Newborn genetic screening for hearing impairment: a population-based longitudinal study."xsd:string |
| http://purl.uniprot.org/citations/27308839 | http://purl.uniprot.org/core/volume | "19"xsd:string |
| http://purl.uniprot.org/citations/27308839 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/27308839 |
| http://purl.uniprot.org/citations/27308839 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/27308839 |
| http://purl.uniprot.org/uniprot/#_A0A0K1P7Q9-mappedCitation-27308839 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/27308839 |
| http://purl.uniprot.org/uniprot/#_A8DU55-mappedCitation-27308839 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/27308839 |
| http://purl.uniprot.org/uniprot/#_A0A2R4SEG2-mappedCitation-27308839 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/27308839 |
| http://purl.uniprot.org/uniprot/#_A0A481MTF8-mappedCitation-27308839 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/27308839 |