-
1
-
-
2942735102
-
Screening for mutations in the GJB3 gene in Brazilian patients with nonsyndromic deafness
-
Alexandrino F, Oliveira CA, Reis FC, et al. (2004) Screening for mutations in the GJB3 gene in Brazilian patients with nonsyndromic deafness. J Appl Genet 45:249-254.
-
(2004)
J Appl Genet
, vol.45
, pp. 249-254
-
-
Alexandrino, F.1
Oliveira, C.A.2
Reis, F.C.3
-
2
-
-
0036396927
-
Hereditary deafness and phenotyping in humans
-
Bitner-Glindzicz M (2002) Hereditary deafness and phenotyping in humans. Br Med Bull 63:73-94.
-
(2002)
Br Med Bull
, vol.63
, pp. 73-94
-
-
Bitner-Glindzicz, M.1
-
3
-
-
82055203179
-
Genetic approach to evaluation of hearing loss
-
Cohen M, Phillips JA, 3rd (2012) Genetic approach to evaluation of hearing loss. Otolaryngol Clin North Am 45:25-39.
-
(2012)
Otolaryngol Clin North Am
, vol.45
, pp. 25-39
-
-
Cohen, M.1
Phillips, J.A.2
-
4
-
-
34249100709
-
Molecular etiology of patients with nonsyndromic hearing loss from deaf-mute schools in 18 provinces of China
-
(in Chinese)
-
Dai P, Liu X, Yu F, et al. (2006) Molecular etiology of patients with nonsyndromic hearing loss from deaf-mute schools in 18 provinces of China. Chin J Otol 4:1-5 (in Chinese).
-
(2006)
Chin J Otol
, vol.4
, pp. 1-5
-
-
Dai, P.1
Liu, X.2
Yu, F.3
-
5
-
-
17544402026
-
High carrier frequency of the 35delG deafness mutation in European populations. Genetic analysis consortium of GJB2 35delG
-
Gasparini P, Rabionet R, Barbujani G, et al. (2000) High carrier frequency of the 35delG deafness mutation in European populations. Genetic analysis consortium of GJB2 35delG. Eur J Hum Genet 8:19-23.
-
(2000)
Eur J Hum Genet
, vol.8
, pp. 19-23
-
-
Gasparini, P.1
Rabionet, R.2
Barbujani, G.3
-
6
-
-
0033858002
-
A biochemical basis for the inherited susceptibility to aminoglycoside ototoxicity
-
Guan MX, Fischel-Ghodsian N, Attardi G (2000) A biochemical basis for the inherited susceptibility to aminoglycoside ototoxicity. Hum Mol Genet 9:1787-1793.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 1787-1793
-
-
Guan, M.X.1
Fischel-Ghodsian, N.2
Attardi, G.3
-
7
-
-
84992115041
-
Analysis on the management situation of deafness-related gene screening results in Haidian district of Beijing from 2012 to 2014
-
(in Chinese)
-
Han P, Shao Y (2015) Analysis on the management situation of deafness-related gene screening results in Haidian district of Beijing from 2012 to 2014. Chin J Women Child Health 6:62-65 (in Chinese).
-
(2015)
Chin J Women Child Health
, vol.6
, pp. 62-65
-
-
Han, P.1
Shao, Y.2
-
8
-
-
0030827973
-
Specific binding of aminoglycosides to a human rRNA construct based on a DNA polymorphism, which causes aminoglycoside-induced deafness
-
Hamasaki K, Rando RR (1997) Specific binding of aminoglycosides to a human rRNA construct based on a DNA polymorphism, which causes aminoglycoside-induced deafness. Biochemistry 36:12323-12328.
-
(1997)
Biochemistry
, vol.36
, pp. 12323-12328
-
-
Hamasaki, K.1
Rando, R.R.2
-
9
-
-
59349118706
-
Forty-six genes causing nonsyndromic hearing impairment: Which ones should be analyzed in DNA diagnostics?
-
Hilgert N, Smith RJ, Van Camp G (2009) Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics? Mutat Res 681:189-196.
-
(2009)
Mutat Res
, vol.681
, pp. 189-196
-
-
Hilgert, N.1
Smith, R.J.2
Van Camp, G.3
-
10
-
-
0008835357
-
Mutation A1555G in the 12S rRNA gene and its epidemiological importance in German, Hungarian, and Polish patients
-
Kupka S, Toth T, Wrobel M, et al. (2002) Mutation A1555G in the 12S rRNA gene and its epidemiological importance in German, Hungarian, and Polish patients. Hum Mutat 19:308-309.
-
(2002)
Hum Mutat
, vol.19
, pp. 308-309
-
-
Kupka, S.1
Toth, T.2
Wrobel, M.3
-
11
-
-
0034614011
-
Contribution of connexin 26 mutations to nonsyndromic deafness in Ashkenazi patients and the variable phenotypic effect of the mutation 167delT
-
Lerer I, Sagi M, Malamud E, et al. (2000) Contribution of connexin 26 mutations to nonsyndromic deafness in Ashkenazi patients and the variable phenotypic effect of the mutation 167delT. Am J Med Genet 95:53-56.
-
(2000)
Am J Med Genet
, vol.95
, pp. 53-56
-
-
Lerer, I.1
Sagi, M.2
Malamud, E.3
-
12
-
-
84992148099
-
MALDI-TOF-MS based diagnosis and analysis of newborn hereditary deafness screening in Wuxi, Jiangsu Province
-
Meng XN, Zhang T, Zang J, et al. (2015) MALDI-TOF-MS based diagnosis and analysis of newborn hereditary deafness screening in Wuxi, Jiangsu Province. Chin J Lab Med 38: 102-105.
-
(2015)
Chin J Lab Med
, vol.38
, pp. 102-105
-
-
Meng, X.N.1
Zhang, T.2
Zang, J.3
-
13
-
-
3643059295
-
Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness
-
Morell RJ, Kim HJ, Hood LJ, et al. (1998) Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness. N Engl J Med 339:1500-1505.
-
(1998)
N Engl J Med
, vol.339
, pp. 1500-1505
-
-
Morell, R.J.1
Kim, H.J.2
Hood, L.J.3
-
14
-
-
33646706079
-
Newborn hearing screening-a silent revolution
-
Morton CC, Nance WE (2006) Newborn hearing screening-a silent revolution. N Engl J Med 354:2151-2164.
-
(2006)
N Engl J Med
, vol.354
, pp. 2151-2164
-
-
Morton, C.C.1
Nance, W.E.2
-
15
-
-
0026410464
-
Genetic epidemiology of hearing impairment
-
Morton NE (1991) Genetic epidemiology of hearing impairment. Ann N Y Acad Sci 630:16-31.
-
(1991)
Ann N y Acad Sci
, vol.630
, pp. 16-31
-
-
Morton, N.E.1
-
16
-
-
14244250194
-
Genetic basis of hearing loss associated with enlarged vestibular aqueducts in Koreans
-
Park HJ, Lee SJ, Jin HS, et al. (2005) Genetic basis of hearing loss associated with enlarged vestibular aqueducts in Koreans. Clin Genet 67:160-165.
-
(2005)
Clin Genet
, vol.67
, pp. 160-165
-
-
Park, H.J.1
Lee, S.J.2
Jin, H.S.3
-
17
-
-
34848918896
-
Relevance of the A1555G mutation in the 12S rRNA gene for hearing impairment in Austria
-
Ramsebner R, Lucas T, Schoefer C, et al. (2007) Relevance of the A1555G mutation in the 12S rRNA gene for hearing impairment in Austria. Otol Neurotol 28:884-886.
-
(2007)
Otol Neurotol
, vol.28
, pp. 884-886
-
-
Ramsebner, R.1
Lucas, T.2
Schoefer, C.3
-
18
-
-
84992077408
-
Comparison on results between deafness gene testing and newborn hearing screening
-
Shen P, Yu H, Liu D, et al. (2015) Comparison on results between deafness gene testing and newborn hearing screening. Chin J Birth Health Hered 23:77-78.
-
(2015)
Chin J Birth Health Hered
, vol.23
, pp. 77-78
-
-
Shen, P.1
Yu, H.2
Liu, D.3
-
19
-
-
0033615567
-
High frequency of the deafness-associated 167delT mutation in the connexin 26 (GJB2) gene in Israeli Ashkenazim
-
Sobe T, Erlich P, Berry A, et al. (1999) High frequency of the deafness-associated 167delT mutation in the connexin 26 (GJB2) gene in Israeli Ashkenazim. Am J Med Genet 86: 499-500.
-
(1999)
Am J Med Genet
, vol.86
, pp. 499-500
-
-
Sobe, T.1
Erlich, P.2
Berry, A.3
-
20
-
-
0034019466
-
The prevalence and expression of inherited connexin 26 mutations associated with nonsyndromic hearing loss in the Israeli population
-
Sobe T, Vreugde S, Shahin H, et al. (2000) The prevalence and expression of inherited connexin 26 mutations associated with nonsyndromic hearing loss in the Israeli population. Hum Genet 106:50-57.
-
(2000)
Hum Genet
, vol.106
, pp. 50-57
-
-
Sobe, T.1
Vreugde, S.2
Shahin, H.3
-
21
-
-
0036822030
-
The A1555G mtDNA mutation in Danish hearing-impaired patients: Frequency and clinical signs
-
Stergaard OS, Montserrat-Sentis B, Gronskov K, et al. (2002) The A1555G mtDNA mutation in Danish hearing-impaired patients: frequency and clinical signs. Clin Genet 62:303-305.
-
(2002)
Clin Genet
, vol.62
, pp. 303-305
-
-
Stergaard, O.S.1
Montserrat-Sentis, B.2
Gronskov, K.3
-
23
-
-
0034881345
-
A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment
-
Van Laer L, Coucke P, Mueller RF, et al. (2001) A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment. J Med Genet 38:515-518.
-
(2001)
J Med Genet
, vol.38
, pp. 515-518
-
-
Van Laer, L.1
Coucke, P.2
Mueller, R.F.3
-
24
-
-
34548131103
-
A distinct spectrum of SLC26A4 mutations in patients with enlarged vestibular aqueduct in China
-
Wang QJ, Zhao YL, Rao SQ, et al. (2007) A distinct spectrum of SLC26A4 mutations in patients with enlarged vestibular aqueduct in China. Clin Genet 72:245-254.
-
(2007)
Clin Genet
, vol.72
, pp. 245-254
-
-
Wang, Q.J.1
Zhao, Y.L.2
Rao, S.Q.3
-
25
-
-
84992164352
-
A study of universal newborn hearing screening combined with deafness predisposing gene screening in 965 newborns
-
Wang Y, Guan B, Ye SM, et al. (2015) A study of universal newborn hearing screening combined with deafness predisposing gene screening in 965 newborns. J Audiol Speech Pathol 23:248-251.
-
(2015)
J Audiol Speech Pathol
, vol.23
, pp. 248-251
-
-
Wang, Y.1
Guan, B.2
Ye, S.M.3
-
26
-
-
84992074700
-
An evaluation on newborn screening of hearing combined with deafness predisposing genes
-
Yu H, Liu D, Yang JQ, et al. (2015) An evaluation on newborn screening of hearing combined with deafness predisposing genes. Zhejiang Prev Med 27:28-31.
-
(2015)
Zhejiang Prev Med
, vol.27
, pp. 28-31
-
-
Yu, H.1
Liu, D.2
Yang, J.Q.3
-
27
-
-
70350118018
-
Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China
-
Yuan Y, You Y, Huang D, et al. (2009) Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China. J Transl Med 7:79.
-
(2009)
J Transl Med
, vol.7
, pp. 79
-
-
Yuan, Y.1
You, Y.2
Huang, D.3
-
28
-
-
84889607074
-
Newborn hearing concurrent genetic screening for hearing impairment-a clinical practice in 58, 397 neonates in Tianjin, China
-
Zhang J, Wang P, Han B, et al. (2013) Newborn hearing concurrent genetic screening for hearing impairment-a clinical practice in 58, 397 neonates in Tianjin, China. Int J Pediatr Otorhinolaryngol 77:1929-1935.
-
(2013)
Int J Pediatr Otorhinolaryngol
, vol.77
, pp. 1929-1935
-
-
Zhang, J.1
Wang, P.2
Han, B.3
|