-
1
-
-
0026410464
-
Genetic epidemiology of hearing impairment
-
Morton N.E. Genetic epidemiology of hearing impairment. Ann. N.Y. Acad. Sci. 1991, 630:16-31.
-
(1991)
Ann. N.Y. Acad. Sci.
, vol.630
, pp. 16-31
-
-
Morton, N.E.1
-
2
-
-
33750707289
-
ACMG Genetics evaluation guidelines for the etiologic diagnosis of congenital hearing loss. Genetic evaluation of congenital hearing loss expert panel: ACMG statement
-
ACMG Genetics evaluation guidelines for the etiologic diagnosis of congenital hearing loss. Genetic evaluation of congenital hearing loss expert panel: ACMG statement. Genet. Med. 2002, 4:162-171.
-
(2002)
Genet. Med.
, vol.4
, pp. 162-171
-
-
-
3
-
-
0025980075
-
Genetic aspects of antibiotic-induced deafness: mitochondrial inheritance
-
Hu D.N., Qiu W.Q., Wu B.T., et al. Genetic aspects of antibiotic-induced deafness: mitochondrial inheritance. J. Med. Genet. 1991, 28:79-83.
-
(1991)
J. Med. Genet.
, vol.28
, pp. 79-83
-
-
Hu, D.N.1
Qiu, W.Q.2
Wu, B.T.3
-
4
-
-
25144501268
-
Cosegregation of the G7444A mutation in the mitochondrial COI/tRNA(Ser(UCN)) genes with the 12S rRNA A1555G mutation in a Chinese family with aminoglycoside-induced and nonsyndromic hearing loss
-
Yuan H., Qian Y., Xu Y., et al. Cosegregation of the G7444A mutation in the mitochondrial COI/tRNA(Ser(UCN)) genes with the 12S rRNA A1555G mutation in a Chinese family with aminoglycoside-induced and nonsyndromic hearing loss. Am. J. Med. Genet. 2005, 138:133-140.
-
(2005)
Am. J. Med. Genet.
, vol.138
, pp. 133-140
-
-
Yuan, H.1
Qian, Y.2
Xu, Y.3
-
5
-
-
0344167734
-
Cosegregation of C-insertion at position 961 with A1555G mutation of mitochondrial 12S rRNA gene in a large Chinese family with maternally inherited hearing loss
-
Li R., Xing G., Yan M., et al. Cosegregation of C-insertion at position 961 with A1555G mutation of mitochondrial 12S rRNA gene in a large Chinese family with maternally inherited hearing loss. Am. J. Med. Genet. 2004, 124 A:113-117.
-
(2004)
Am. J. Med. Genet.
, vol.124
, pp. 113-117
-
-
Li, R.1
Xing, G.2
Yan, M.3
-
6
-
-
45849151340
-
Audiological and genetic features of the mtDNA mutations
-
Liu X.Z., Angel iS., Ouyang X.M., et al. Audiological and genetic features of the mtDNA mutations. Acta Otolaryngol. 2008, 128:732-738.
-
(2008)
Acta Otolaryngol.
, vol.128
, pp. 732-738
-
-
Liu, X.Z.1
Angel, I.2
Ouyang, X.M.3
-
7
-
-
0033577528
-
Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling
-
Denoyelle F., Marlin S., Weil D., et al. Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling. Lancet 1999, 353:1298-1303.
-
(1999)
Lancet
, vol.353
, pp. 1298-1303
-
-
Denoyelle, F.1
Marlin, S.2
Weil, D.3
-
8
-
-
21444440089
-
Audiological features of GJB2 (connexin 26) deafness
-
Liu X.Z., Pandya A., Angeli S., et al. Audiological features of GJB2 (connexin 26) deafness. Ear Hear. 2005, 26:361-369.
-
(2005)
Ear Hear.
, vol.26
, pp. 361-369
-
-
Liu, X.Z.1
Pandya, A.2
Angeli, S.3
-
9
-
-
17344373747
-
Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment
-
Xia J.H., Liu C.Y., Tang B.S., et al. Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment. Nat. Genet. 1998, 20:370-373.
-
(1998)
Nat. Genet.
, vol.20
, pp. 370-373
-
-
Xia, J.H.1
Liu, C.Y.2
Tang, B.S.3
-
10
-
-
63149191905
-
Gene mapping for autosomal dominant nonsyndromic hearing loss DFNA11
-
(in Chinese)
-
Yuan H., Han D.Y., Wang Q., et al. Gene mapping for autosomal dominant nonsyndromic hearing loss DFNA11. Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi 2007, 42:422-427. (in Chinese).
-
(2007)
Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi
, vol.42
, pp. 422-427
-
-
Yuan, H.1
Han, D.Y.2
Wang, Q.3
-
11
-
-
27644518633
-
Refinement of the DFNA41 locus and candidate genes analysis
-
Yan D., Ouyang X.M., Zhu X., et al. Refinement of the DFNA41 locus and candidate genes analysis. J. Hum. Genet. 2005, 50:516-522.
-
(2005)
J. Hum. Genet.
, vol.50
, pp. 516-522
-
-
Yan, D.1
Ouyang, X.M.2
Zhu, X.3
-
12
-
-
32944478587
-
A novel locus for autosomal dominant non-syndromic deafness, DFNA53, maps to chromosome 14q11.2-q12
-
Yan D., Ke X., Blanton S.H., et al. A novel locus for autosomal dominant non-syndromic deafness, DFNA53, maps to chromosome 14q11.2-q12. J. Med. Genet. 2006, 43:170-174.
-
(2006)
J. Med. Genet.
, vol.43
, pp. 170-174
-
-
Yan, D.1
Ke, X.2
Blanton, S.H.3
-
13
-
-
12244305550
-
A novel locus for autosomal dominant nonsyndromic hearing loss identified at 5q31.1-32 in a Chinese pedigree
-
Xia J., Deng H., Feng Y., et al. A novel locus for autosomal dominant nonsyndromic hearing loss identified at 5q31.1-32 in a Chinese pedigree. J. Hum. Genet. 2002, 47:635-640.
-
(2002)
J. Hum. Genet.
, vol.47
, pp. 635-640
-
-
Xia, J.1
Deng, H.2
Feng, Y.3
-
14
-
-
33745247186
-
A novel mutation of POU3F4 causes congenital profound sensorineural hearing loss in a large Chinese family
-
Wang Q.J., Li Q.Z., Rao S.Q., et al. A novel mutation of POU3F4 causes congenital profound sensorineural hearing loss in a large Chinese family. Laryngoscope 2006, 116:944-950.
-
(2006)
Laryngoscope
, vol.116
, pp. 944-950
-
-
Wang, Q.J.1
Li, Q.Z.2
Rao, S.Q.3
-
15
-
-
19444372677
-
Y-linked inheritance of non-syndromic hearing impairment in a large Chinese family
-
Wang Q.J., Lu C.Y., Li N., et al. Y-linked inheritance of non-syndromic hearing impairment in a large Chinese family. J. Med. Genet. 2004, 41:e80.
-
(2004)
J. Med. Genet.
, vol.41
-
-
Wang, Q.J.1
Lu, C.Y.2
Li, N.3
-
16
-
-
67650322069
-
The large Chinese family with Y-linked hearing loss revisited: clinical investigation
-
Wang Q.J., Rao S.Q., Zhao Y.L., et al. The large Chinese family with Y-linked hearing loss revisited: clinical investigation. Acta Otolaryngol. 2009, 129:638-643.
-
(2009)
Acta Otolaryngol.
, vol.129
, pp. 638-643
-
-
Wang, Q.J.1
Rao, S.Q.2
Zhao, Y.L.3
-
17
-
-
0028227613
-
Non-syndromic hearing loss: an analysis of audiogram
-
Liu X.Z., Xu L.R. Non-syndromic hearing loss: an analysis of audiogram. Ann. Otol. Rhinol. Laryngol. 1994, 10:428-432.
-
(1994)
Ann. Otol. Rhinol. Laryngol.
, vol.10
, pp. 428-432
-
-
Liu, X.Z.1
Xu, L.R.2
-
18
-
-
1842569763
-
Audiological terms
-
Whurr Publishers, Letchworth, A. Martini, A. Read, D. Stephens, M. Mazzoli, A. Martini (Eds.)
-
Stephens D. Audiological terms. Definitions, Protocols and Guidelines in Genetic Hearing Impairments 2001, 9-14. Whurr Publishers, Letchworth. A. Martini, A. Read, D. Stephens, M. Mazzoli, A. Martini (Eds.).
-
(2001)
Definitions, Protocols and Guidelines in Genetic Hearing Impairments
, pp. 9-14
-
-
Stephens, D.1
-
19
-
-
0042090621
-
Genotypic and phenotypic correlations of DFNB1-related hearing impairment in the midwestern United States
-
Lim L.H., Bradshaw J.K., Guo Y., et al. Genotypic and phenotypic correlations of DFNB1-related hearing impairment in the midwestern United States. Arch. Otolaryngol. Head Neck Surg. 2003, 129:836-840.
-
(2003)
Arch. Otolaryngol. Head Neck Surg.
, vol.129
, pp. 836-840
-
-
Lim, L.H.1
Bradshaw, J.K.2
Guo, Y.3
-
20
-
-
0033524936
-
KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness
-
Kubisch C., Schroeder B.C., Friedrich T., et al. KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness. Cell 1999, 96:437-446.
-
(1999)
Cell
, vol.96
, pp. 437-446
-
-
Kubisch, C.1
Schroeder, B.C.2
Friedrich, T.3
-
21
-
-
0034636056
-
+ channel mutated in a form of dominant deafness, is expressed in the inner ear and the central auditory pathway
-
+ channel mutated in a form of dominant deafness, is expressed in the inner ear and the central auditory pathway. Proc. Natl. Acad. Sci. U.S.A. 2000, 97:4333-4338.
-
(2000)
Proc. Natl. Acad. Sci. U.S.A.
, vol.97
, pp. 4333-4338
-
-
Kharkovets, T.1
Hardelin, J.P.2
Safieddine, S.3
-
22
-
-
0032837049
-
High prevalence of symptoms of Menière's disease in three families with a mutation in the COCH gene
-
Fransen E., Verstreken M., Verhagen W.I., et al. High prevalence of symptoms of Menière's disease in three families with a mutation in the COCH gene. Hum. Mol. Genet. 1999, 8:1425-1429.
-
(1999)
Hum. Mol. Genet.
, vol.8
, pp. 1425-1429
-
-
Fransen, E.1
Verstreken, M.2
Verhagen, W.I.3
-
23
-
-
0035888652
-
Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss
-
Bespalova I.N., Van Camp G., Bom S.J., et al. Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss. Hum. Mol. Genet. 2001, 10:2501-2508.
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 2501-2508
-
-
Bespalova, I.N.1
Van Camp, G.2
Bom, S.J.3
-
24
-
-
45849151340
-
Audiological and genetic features of the mtDNA mutations
-
Liu X.Z., Angeli S., Ouyang X.M., et al. Audiological and genetic features of the mtDNA mutations. Acta Otolaryngol. 2008, 128:732-738.
-
(2008)
Acta Otolaryngol.
, vol.128
, pp. 732-738
-
-
Liu, X.Z.1
Angeli, S.2
Ouyang, X.M.3
-
25
-
-
4344582122
-
Clinical application of genetic testing for deafness
-
Smith R.J. Clinical application of genetic testing for deafness. Am. J. Med. Genet. A 2004, 130 A:8-12.
-
(2004)
Am. J. Med. Genet. A
, vol.130
, pp. 8-12
-
-
Smith, R.J.1
-
27
-
-
8744312800
-
Hereditary non-syndromic sensorineural hearing loss
-
Schrijver I. Hereditary non-syndromic sensorineural hearing loss. J. Mol. Diagn. 2004, 6:275-284.
-
(2004)
J. Mol. Diagn.
, vol.6
, pp. 275-284
-
-
Schrijver, I.1
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