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Key words:
- genetic deafness /
- gene diagnosis
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[1] MORTON C C, NANCE W E.Newborn hearing screening——a silent revolution[J].N Engl J Med, 2006, 354:2151-2164.
[2] NANCE W E.The genetics of deafness[J].Ment Retard Dev Disabil Res Rev, 2003, 9:109-119.
[3] MORTON N E.Genetic epidemiology of hearing impairment[J].Ann N Y Acad Sci, 1991, 630:16-31.
[4] DAI P, YU F, HAN B, et al.GJB2 mutation spectrum in 2, 063 Chinese patients with nonsyndromic hearing impairment[J].J Transl Med, 2009, 7:26-26.
[5] YANG T, WEI X, CHAI Y, et al.Genetic etiology study of the non-syndromic deafness in Chinese Hans by targeted next-generation sequencing[J].Orphanet J Rare Dis, 2013, 8:85-85.
[6] CHAI Y, HUANG Z, TAO Z, et al.Molecular etiology of hearing impairment associated with nonsyndromic enlarged vestibular aqueduct in East China[J].Am J Med Genet A, 2013, 161:2226-2233.
[7] WANG Q J, ZHAO Y L, RAO S Q, et al.A distinct spectrum of SLC26A4 mutations in patients with enlarged vestibular aqueduct in China[J].Clin Genet, 2007, 72:245-254.
[8] HILDEBRAND M S, DELUCA A P, TAYLOR K R, et al.A contemporary review of AudioGene audioprofiling:a machine-based candidate gene prediction tool for autosomal dominant nonsyndromic hearing loss[J].Laryngoscope, 2009, 119:2211-2215.
[9] CHEN H, JIANG L, XIE Z, et al.Novel mutations of PAX3, MITF, and SOX10 genes in Chinese patients with type I or type II Waardenburg syndrome[J].Biochem Biophys Res Commun, 2010, 397:70-74.
[10] BONNET C, GRATI M, MARLIN S, et al.Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis[J].Orphanet J Rare Dis, 2011, 6:21-21.
[11] YIN A, LIU C, ZHANG Y, et al.The carrier rate and mutation spectrum of genes associated with hearing loss in South China hearing female population of childbearing age[J].BMC Med Genet, 2013, 14:57-57.
[12] CHAI Y, CHEN D, SUN L, et al.The homozygous p.V37 Ivariant of GJB2 is associated with diverse hearing phenotypes[J].Clin Genet, 2014.
[13] LI L, LU J, TAO Z, et al.The p.V37 Iexclusive genotype of GJB2:agenetic risk-indicator of postnatal permanent childhood hearing impairment[J].PLoS One, 2012, 7:e36621-e36621. (收稿日期:2014-09-01)
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