-
1
-
-
14744282666
-
Sensorineural hearing loss in children
-
Smith RJ, Bale JF Jr and White KR: Sensorineural hearing loss in children. Lancet 365: 879-890, 2005.
-
(2005)
Lancet
, vol.365
, pp. 879-890
-
-
Smith, R.J.1
Bale Jr, J.F.2
White, K.R.3
-
2
-
-
0030946546
-
Nonsyndromic hearing impairment: Unparalleled heterogeneity
-
Van Camp G, Willems PJ and Smith RJ: Nonsyndromic hearing impairment: unparalleled heterogeneity. Am J Hum Genet 60: 758-764, 1997.
-
(1997)
Am J Hum Genet
, vol.60
, pp. 758-764
-
-
Van Camp, G.1
Willems, P.J.2
Smith, R.J.3
-
3
-
-
0346154518
-
Association of Congenital Deafness with Goitre (Pendred's Syndrome) a study of 207 families
-
Fraser GR: Association of Congenital Deafness with Goitre (Pendred's Syndrome) a study of 207 families. Ann Hum Genet 28: 201-249, 1965.
-
(1965)
Ann Hum Genet
, vol.28
, pp. 201-249
-
-
Fraser, G.R.1
-
4
-
-
0030815949
-
Pendred syndrome - 100 years of underascertainment?
-
Reardon W, Coffey R, Phelps PD, et al: Pendred syndrome - 100 years of underascertainment? Q J Med 90: 443-447, 1997.
-
(1997)
Q J Med
, vol.90
, pp. 443-447
-
-
Reardon, W.1
Coffey, R.2
Phelps, P.D.3
-
5
-
-
0346025681
-
Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: A unique spectrum of mutations in Japanese
-
Tsukamoto K, Suzuki H, Harada D, Namba A, Abe S and Usami S: Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese. Eur J Hum Genet 11: 916-922, 2003.
-
(2003)
Eur J Hum Genet
, vol.11
, pp. 916-922
-
-
Tsukamoto, K.1
Suzuki, H.2
Harada, D.3
Namba, A.4
Abe, S.5
Usami, S.6
-
6
-
-
57349131522
-
Carrier frequency of GJB2 (connexin-26) mutations causing inherited deafness in the Korean population
-
Han SH, Park HJ, Kang EJ, et al: Carrier frequency of GJB2 (connexin-26) mutations causing inherited deafness in the Korean population. J Hum Genet 53: 1022-1028, 2008.
-
(2008)
J Hum Genet
, vol.53
, pp. 1022-1028
-
-
Han, S.H.1
Park, H.J.2
Kang, E.J.3
-
7
-
-
0033812813
-
Connexin26 mutations associated with nonsyndromic hearing loss
-
Park HJ, Hahn SH, Chun YM, Park K and Kim HN: Connexin26 mutations associated with nonsyndromic hearing loss. Laryngoscope 110: 1535-1538, 2000.
-
(2000)
Laryngoscope
, vol.110
, pp. 1535-1538
-
-
Park, H.J.1
Hahn, S.H.2
Chun, Y.M.3
Park, K.4
Kim, H.N.5
-
8
-
-
0037390447
-
Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: Global implications for the epidemiology of deafness
-
Park HJ, Shaukat S, Liu XZ, et al: Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness. J Med Genet 40: 242-248, 2003.
-
(2003)
J Med Genet
, vol.40
, pp. 242-248
-
-
Park, H.J.1
Shaukat, S.2
Liu, X.Z.3
-
9
-
-
41349122252
-
The responsible genes in Japanese deafness patients and clinical application using Invader assay
-
Usami S, Wagatsuma M, Fukuoka H, et al: The responsible genes in Japanese deafness patients and clinical application using Invader assay. Acta Otolaryngol 128: 446-454, 2008.
-
(2008)
Acta Otolaryngol
, vol.128
, pp. 446-454
-
-
Usami, S.1
Wagatsuma, M.2
Fukuoka, H.3
-
10
-
-
10744230689
-
Evidence of a founder effect for the 235delC mutation of GJB2 (connexin 26) in east Asians
-
Yan D, Park HJ, Ouyang XM, et al: Evidence of a founder effect for the 235delC mutation of GJB2 (connexin 26) in east Asians. Hum Genet 114: 44-50, 2003.
-
(2003)
Hum Genet
, vol.114
, pp. 44-50
-
-
Yan, D.1
Park, H.J.2
Ouyang, X.M.3
-
12
-
-
0034054301
-
Prevalence of mitochondrial gene mutations among hearing impaired patients
-
Usami S, Abe S, Akita J, et al: Prevalence of mitochondrial gene mutations among hearing impaired patients. J Med Genet 37: 38-40, 2000.
-
(2000)
J Med Genet
, vol.37
, pp. 38-40
-
-
Usami, S.1
Abe, S.2
Akita, J.3
-
13
-
-
0030754623
-
Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations. The Biomed CF Mutation Analysis Consortium
-
Estivill X, Bancells C and Ramos C: Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations. The Biomed CF Mutation Analysis Consortium. Hum Mutat 10: 135-154, 1997.
-
(1997)
Hum Mutat
, vol.10
, pp. 135-154
-
-
Estivill, X.1
Bancells, C.2
Ramos, C.3
-
14
-
-
0032869123
-
Molecular genetics of the Finnish disease heritage
-
Peltonen L, Jalanko A and Varilo T: Molecular genetics of the Finnish disease heritage. Hum Mol Genet 8: 1913-1923, 1999.
-
(1999)
Hum Mol Genet
, vol.8
, pp. 1913-1923
-
-
Peltonen, L.1
Jalanko, A.2
Varilo, T.3
-
15
-
-
68249083542
-
Construction of a DNA chip for screening of genetic hearing loss
-
Choi SY, Kim YE, Ahn DB, et al: Construction of a DNA chip for screening of genetic hearing loss. Clin Exp Otorhinolaryngol 2: 44-47, 2009.
-
(2009)
Clin Exp Otorhinolaryngol
, vol.2
, pp. 44-47
-
-
Choi, S.Y.1
Kim, Y.E.2
Ahn, D.B.3
-
16
-
-
48749093757
-
Molecular analysis of mitochondrial gene mutations in Korean patients with nonsyndromic hearing loss
-
Bae JW, Lee KY, Choi SY, Lee SH, Park HJ and Kim UK: Molecular analysis of mitochondrial gene mutations in Korean patients with nonsyndromic hearing loss. Int J Mol Med 22: 175-180, 2008.
-
(2008)
Int J Mol Med
, vol.22
, pp. 175-180
-
-
Bae, J.W.1
Lee, K.Y.2
Choi, S.Y.3
Lee, S.H.4
Park, H.J.5
Kim, U.K.6
-
17
-
-
48449103433
-
Molecular analysis of the GJB2, GJB6 and SLC26A4 genes in Korean deafness patients
-
Lee KY, Choi SY, Bae JW, et al: Molecular analysis of the GJB2, GJB6 and SLC26A4 genes in Korean deafness patients. Int J Pediatr Otorhinolaryngol 72: 1301-1309, 2008.
-
(2008)
Int J Pediatr Otorhinolaryngol
, vol.72
, pp. 1301-1309
-
-
Lee, K.Y.1
Choi, S.Y.2
Bae, J.W.3
-
18
-
-
14244250194
-
Genetic basis of hearing loss associated with enlarged vestibular aqueducts in Koreans
-
Park HJ, Lee SJ, Jin HS, et al: Genetic basis of hearing loss associated with enlarged vestibular aqueducts in Koreans. Clin Genet 67: 160-165, 2005.
-
(2005)
Clin Genet
, vol.67
, pp. 160-165
-
-
Park, H.J.1
Lee, S.J.2
Jin, H.S.3
-
19
-
-
33748612427
-
Detection of mutations in genes associated with hearing loss using a microarray-based approach
-
quiz 528
-
Siemering K, Manji SS, Hutchison WM, Du Sart D, Phelan D and Dahl HH: Detection of mutations in genes associated with hearing loss using a microarray-based approach. J Mol Diagn 8: 483-489; quiz 528, 2006.
-
(2006)
J Mol Diagn
, vol.8
, pp. 483-489
-
-
Siemering, K.1
Manji, S.S.2
Hutchison, W.M.3
Du Sart, D.4
Phelan, D.5
Dahl, H.H.6
-
20
-
-
0026410464
-
Genetic epidemiology of hearing impairment
-
Morton NE: Genetic epidemiology of hearing impairment. Ann NY Acad Sci 630: 16-31, 1991.
-
(1991)
Ann NY Acad Sci
, vol.630
, pp. 16-31
-
-
Morton, N.E.1
-
21
-
-
0031728855
-
Language of early- and later-identified children with hearing loss
-
Yoshinaga-Itano C, Sedey AL, Coulter DK and Mehl AL: Language of early- and later-identified children with hearing loss. Pediatrics 102: 1161-1171, 1998.
-
(1998)
Pediatrics
, vol.102
, pp. 1161-1171
-
-
Yoshinaga-Itano, C.1
Sedey, A.L.2
Coulter, D.K.3
Mehl, A.L.4
-
22
-
-
33847282820
-
Development of a genotyping microarray for Usher syndrome
-
Cremers FP, Kimberling WJ, Kulm M, et al: Development of a genotyping microarray for Usher syndrome. J Med Genet 44: 153-160, 2007.
-
(2007)
J Med Genet
, vol.44
, pp. 153-160
-
-
Cremers, F.P.1
Kimberling, W.J.2
Kulm, M.3
-
23
-
-
33746845210
-
Simultaneous multigene mutation detection in patients with sensorineural hearing loss through a novel diagnostic microarray: A new approach for newborn screening follow-up
-
Gardner P, Oitmaa E, Messner A, Hoefsloot L, Metspalu A and Schrijver I: Simultaneous multigene mutation detection in patients with sensorineural hearing loss through a novel diagnostic microarray: a new approach for newborn screening follow-up. Pediatrics 118: 985-994, 2006.
-
(2006)
Pediatrics
, vol.118
, pp. 985-994
-
-
Gardner, P.1
Oitmaa, E.2
Messner, A.3
Hoefsloot, L.4
Metspalu, A.5
Schrijver, I.6
-
24
-
-
33847389693
-
The H723R mutation in the PDS/ SLC26A4 gene is associated with typical Pendred syndrome in Korean patients
-
Cho MA, Jeong SJ, Eom SM, et al: The H723R mutation in the PDS/ SLC26A4 gene is associated with typical Pendred syndrome in Korean patients. Endocrine 30: 237-243, 2006.
-
(2006)
Endocrine
, vol.30
, pp. 237-243
-
-
Cho, M.A.1
Jeong, S.J.2
Eom, S.M.3
-
25
-
-
67651211383
-
A family of H723R mutation for SLC26A4 associated with enlarged vestibular aqueduct syndrome
-
Kim S, Song DG, Bae JW, et al: A family of H723R mutation for SLC26A4 associated with enlarged vestibular aqueduct syndrome. Clin Exp Otorhinolaryngol 2: 100-102, 2009.
-
(2009)
Clin Exp Otorhinolaryngol
, vol.2
, pp. 100-102
-
-
Kim, S.1
Song, D.G.2
Bae, J.W.3
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