-
1
-
-
14744282666
-
Sensorineural hearing loss in children
-
Smith R, Bale JJ, White K. Sensorineural hearing loss in children. Lancet 2005;365:879-90.
-
(2005)
Lancet
, vol.365
, pp. 879-890
-
-
Smith, R.1
Bale, J.J.2
White, K.3
-
2
-
-
59349118706
-
Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics?
-
Hilgert N, Smith R, Van Camp G. Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics? Mutat Res 2009;681:189-96.
-
(2009)
Mutat Res
, vol.681
, pp. 189-196
-
-
Hilgert, N.1
Smith, R.2
Van Camp, G.3
-
3
-
-
0035828440
-
Prevalence of permanent childhood hearing impairment in the United Kingdom and implications for universal neonatal hearing screening: questionnaire based ascertainment study
-
Fortnum H, Summerfield A, Marshall D, et al. Prevalence of permanent childhood hearing impairment in the United Kingdom and implications for universal neonatal hearing screening: questionnaire based ascertainment study. BMJ 2001;323:536-40.
-
(2001)
BMJ
, vol.323
, pp. 536-540
-
-
Fortnum, H.1
Summerfield, A.2
Marshall, D.3
-
4
-
-
33646706079
-
Newborn hearing screening--a silent revolution
-
Morton C, Nance W. Newborn hearing screening--a silent revolution. N Engl J Med 2006;354:2151-64.
-
(2006)
N Engl J Med
, vol.354
, pp. 2151-2164
-
-
Morton, C.1
Nance, W.2
-
5
-
-
34248172021
-
Universal newborn hearing screening
-
Wrightson A. Universal newborn hearing screening. Am Fam Physician 2007;75:1349-52.
-
(2007)
Am Fam Physician
, vol.75
, pp. 1349-1352
-
-
Wrightson, A.1
-
6
-
-
40949125261
-
Pilot study of universal newborn hearing screening in Japan: districtbased screening program in Okayama
-
Fukushima K, Mimaki N, Fukuda S, et al. Pilot study of universal newborn hearing screening in Japan: districtbased screening program in Okayama. Ann Otol Rhinol Laryngol 2008;117:166-71.
-
(2008)
Ann Otol Rhinol Laryngol
, vol.117
, pp. 166-171
-
-
Fukushima, K.1
Mimaki, N.2
Fukuda, S.3
-
7
-
-
0033775739
-
-
Joint Committee on Infant Hearing, American Academy of Audiology, American Academy of Pediatrics, et al. Year 2000 position statement: principles and guidelines for early hearing detection and intervention programs. Joint Committee on Infant Hearing, American Academy of Audiology, American Academy of Pediatrics, American Speech-Language-Hearing Association, and Directors of Speech and Hearing Programs in State Health and Welfare Agencies
-
Joint Committee on Infant Hearing, American Academy of Audiology, American Academy of Pediatrics, et al. Year 2000 position statement: principles and guidelines for early hearing detection and intervention programs. Joint Committee on Infant Hearing, American Academy of Audiology, American Academy of Pediatrics, American Speech-Language-Hearing Association, and Directors of Speech and Hearing Programs in State Health and Welfare Agencies. Pediatrics 2000;106:798-817.
-
(2000)
Pediatrics
, vol.106
, pp. 798-817
-
-
-
8
-
-
0026410464
-
Genetic epidemiology of hearing impairment
-
Morton N. 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.1
-
9
-
-
0030946546
-
Nonsyndromic hearing impairment: unparalleled heterogeneity
-
Van Camp G, Willems P, Smith R. Nonsyndromic hearing impairment: unparalleled heterogeneity. Am J Hum Genet 1997;60:758-64.
-
(1997)
Am J Hum Genet
, vol.60
, pp. 758-764
-
-
Van Camp, G.1
Willems, P.2
Smith, R.3
-
13
-
-
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 2008;128:446-54.
-
(2008)
Acta Otolaryngol
, vol.128
, pp. 446-454
-
-
Usami, S.1
Wagatsuma, M.2
Fukuoka, H.3
-
14
-
-
0033597554
-
Three novel connexin26 gene mutations in autosomal recessive non-syndromic deafness
-
Fuse Y, Doi K, Hasegawa T, et al. Three novel connexin26 gene mutations in autosomal recessive non-syndromic deafness. Neuroreport 1999;10:1853-7.
-
(1999)
Neuroreport
, vol.10
, pp. 1853-1857
-
-
Fuse, Y.1
Doi, K.2
Hasegawa, T.3
-
15
-
-
0034157691
-
Mutations of the Pendred syndrome gene (PDS) in patients with large vestibular aqueduct
-
Kitamura K, Takahashi K, Noguchi Y, et al. Mutations of the Pendred syndrome gene (PDS) in patients with large vestibular aqueduct. Acta Otolaryngol 2000;120:137-41.
-
(2000)
Acta Otolaryngol
, vol.120
, pp. 137-141
-
-
Kitamura, K.1
Takahashi, K.2
Noguchi, Y.3
-
16
-
-
0842277862
-
Audiovestibular findings in patients with mitochondrial A1555G mutation
-
Noguchi Y, Yashima T, Ito T, et al. Audiovestibular findings in patients with mitochondrial A1555G mutation. Laryngoscope 2004;114:344-8.
-
(2004)
Laryngoscope
, vol.114
, pp. 344-348
-
-
Noguchi, Y.1
Yashima, T.2
Ito, T.3
-
18
-
-
9844245885
-
Connexin26 mutations associated with the most common form of nonsyndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans
-
Zelante L, Gasparini P, Estivill X, et al. Connexin26 mutations associated with the most common form of nonsyndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans. Hum Mol Genet 1997; 6:1605-9.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 1605-1609
-
-
Zelante, L.1
Gasparini, P.2
Estivill, X.3
-
19
-
-
0032492217
-
Connexin-26 mutations in sporadic and inherited sensorineural deafness
-
Estivill X, Fortina P, Surrey S, et al. Connexin-26 mutations in sporadic and inherited sensorineural deafness. Lancet 1998;351:394-8.
-
(1998)
Lancet
, vol.351
, pp. 394-398
-
-
Estivill, X.1
Fortina, P.2
Surrey, S.3
-
20
-
-
0031949442
-
Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss
-
Kelley P, Harris D, Comer B, et al. Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss. Am J Hum Genet 1998;62:792-9.
-
(1998)
Am J Hum Genet
, vol.62
, pp. 792-799
-
-
Kelley, P.1
Harris, D.2
Comer, B.3
-
21
-
-
0029974655
-
Connections with connexins: the molecular basis of direct intercellular signaling
-
Bruzzone R, White T, Paul D. Connections with connexins: the molecular basis of direct intercellular signaling. Eur J Biochem 1996;238:1-27.
-
(1996)
Eur J Biochem
, vol.238
, pp. 1-27
-
-
Bruzzone, R.1
White, T.2
Paul, D.3
-
22
-
-
58149101072
-
Gap-junction channels dysfunction in deafness and hearing loss
-
Martínez A, Acuña R, Figueroa V, et al. Gap-junction channels dysfunction in deafness and hearing loss. Antioxid Redox Signal 2009;11:309-22.
-
(2009)
Antioxid Redox Signal
, vol.11
, pp. 309-322
-
-
Martínez, A.1
Acuña, R.2
Figueroa, V.3
-
23
-
-
0028964217
-
The gap junction proteins beta 1-connexin (connexin-32) and beta 2-connexin (connexin-26) can form heteromeri chemichannels
-
Stauffer K. The gap junction proteins beta 1-connexin (connexin-32) and beta 2-connexin (connexin-26) can form heteromeric hemichannels. J Biol Chem 1995;270:6768-72.
-
(1995)
J Biol Chem
, vol.270
, pp. 6768-6772
-
-
Stauffer, K.1
-
24
-
-
0028843286
-
Gap junctions in the rat cochlea: immunohistochemical and ultrastructural analysis
-
Kikuchi T, Kimura R, Paul D, et al. Gap junctions in the rat cochlea: immunohistochemical and ultrastructural analysis. Anat Embryol (Berl) 1995;191:101-18.
-
(1995)
Anat Embryol (Berl)
, vol.191
, pp. 101-118
-
-
Kikuchi, T.1
Kimura, R.2
Paul, D.3
-
25
-
-
0031007349
-
Connexin 26 mutations in hereditary non-syndromic sensorineural deafness
-
Kelsell D, Dunlop J, Stevens H, et al. Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. Nature 1997;387:80-3.
-
(1997)
Nature
, vol.387
, pp. 80-83
-
-
Kelsell, D.1
Dunlop, J.2
Stevens, H.3
-
26
-
-
0032575085
-
Connexin 26 gene linked to a dominant deafness
-
Denoyelle F, Lina-Granade G, Plauchu H, et al. Connexin 26 gene linked to a dominant deafness. Nature 1998;393:319-20.
-
(1998)
Nature
, vol.393
, pp. 319-320
-
-
Denoyelle, F.1
Lina-Granade, G.2
Plauchu, H.3
-
27
-
-
28144444402
-
GJB2 mutations and degree of hearing loss: a multicenter study
-
Snoeckx R, Huygen P, Feldmann D, et al. GJB2 mutations and degree of hearing loss: a multicenter study. Am J Hum Genet 2005;77:945-57.
-
(2005)
Am J Hum Genet
, vol.77
, pp. 945-957
-
-
Snoeckx, R.1
Huygen, P.2
Feldmann, D.3
-
28
-
-
0033575109
-
Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness
-
Green G, Scott D, McDonald J, et al. Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness. JAMA 1999;281:2211-6.
-
(1999)
JAMA
, vol.281
, pp. 2211-2216
-
-
Green, G.1
Scott, D.2
McDonald, J.3
-
29
-
-
0036524027
-
Genetics of congenital deafness in the Palestinian population: multiple connexin 26 alleles with shared origins in the Middle East
-
Shahin H, Walsh T, Sobe T, et al. Genetics of congenital deafness in the Palestinian population: multiple connexin 26 alleles with shared origins in the Middle East. Hum Genet 2002;110:284-9.
-
(2002)
Hum Genet
, vol.110
, pp. 284-289
-
-
Shahin, H.1
Walsh, T.2
Sobe, T.3
-
30
-
-
0036821083
-
The prevalence of connexin 26 (GJB2) mutations in the Chinese population
-
Liu X, Xia X, Ke X, et al. The prevalence of connexin 26 (GJB2) mutations in the Chinese population. Hum Genet 2002;111:394-7.
-
(2002)
Hum Genet
, vol.111
, pp. 394-397
-
-
Liu, X.1
Xia, X.2
Ke, X.3
-
31
-
-
2942737398
-
The frequency of GJB2 mutations and the Delta (GJB6-D13S1830) deletion as a cause of autosomal recessive nonsyndromic deafness in the Kurdish population
-
Mahdieh N, Nishimura C, Ali-Madadi K, et al. The frequency of GJB2 mutations and the Delta (GJB6-D13S1830) deletion as a cause of autosomal recessive nonsyndromic deafness in the Kurdish population. Clin Genet 2004;65:506-8.
-
(2004)
Clin Genet
, vol.65
, pp. 506-508
-
-
Mahdieh, N.1
Nishimura, C.2
Ali-Madadi, K.3
-
32
-
-
26444611318
-
First molecular screening of deafness in the Altai Republic population
-
Posukh O, Pallares-Ruiz N, Tadinova V, et al. First molecular screening of deafness in the Altai Republic population. BMC Med Genet 2005;6:12.
-
(2005)
BMC Med Genet
, vol.6
, pp. 12
-
-
Posukh, O.1
Pallares-Ruiz, N.2
Tadinova, V.3
-
33
-
-
0038237455
-
GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation
-
Ohtsuka A, Yuge I, Kimura S, et al. GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation. Hum Genet 2003;112:329-33.
-
(2003)
Hum Genet
, vol.112
, pp. 329-333
-
-
Ohtsuka, A.1
Yuge, I.2
Kimura, S.3
-
34
-
-
20144386649
-
Clinical features of patients with GJB2 (connexin 26) mutations: severity of hearing loss is correlated with genotypes and protein expression patterns
-
Oguchi T, Ohtsuka A, Hashimoto S, et al. Clinical features of patients with GJB2 (connexin 26) mutations: severity of hearing loss is correlated with genotypes and protein expression patterns. J Hum Genet 2005;50:76-83.
-
(2005)
J Hum Genet
, vol.50
, pp. 76-83
-
-
Oguchi, T.1
Ohtsuka, A.2
Hashimoto, S.3
-
35
-
-
0032700610
-
Rapid identification of an A1555G mutation in human mitochondrial DNA implicated in aminoglycoside-induced ototoxicity
-
Scrimshaw B, Faed J, Tate W, et al. Rapid identification of an A1555G mutation in human mitochondrial DNA implicated in aminoglycoside-induced ototoxicity. J Hum Genet 1999;44:388-90.
-
(1999)
J Hum Genet
, vol.44
, pp. 388-390
-
-
Scrimshaw, B.1
Faed, J.2
Tate, W.3
-
36
-
-
0008835357
-
Mutation A1555G in the 12S rRNA gene and its epidemiological importance in German, Hungarian, and Polish patients
-
Kupka S, Tóth T, Wróbel M, et al. Mutation A1555G in the 12S rRNA gene and its epidemiological importance in German, Hungarian, and Polish patients. Hum Mutat 2002;19:308-9.
-
(2002)
Hum Mutat
, vol.19
, pp. 308-309
-
-
Kupka, S.1
Tóth, T.2
Wróbel, M.3
-
37
-
-
0037340257
-
Frequency of mtDNA A1555G and A7445G mutations among children with prelingual deafness in Turkey
-
Tekin M, Duman T, Boǧoçlu G, et al. Frequency of mtDNA A1555G and A7445G mutations among children with prelingual deafness in Turkey. Eur J Pediatr 2003; 162:154-8.
-
(2003)
Eur J Pediatr
, vol.162
, pp. 154-158
-
-
Tekin, M.1
Duman, T.2
Boǧoçlu, G.3
-
38
-
-
0036822030
-
The A1555G mtDNA mutation in Danish hearing-impaired patients: frequency and clinical signs
-
ØStergaard E, Montserrat-Sentis B, Grønskov K, et al. The A1555G mtDNA mutation in Danish hearing-impaired patients: frequency and clinical signs. Clin Genet 2002;62:303-5.
-
(2002)
Clin Genet
, vol.62
, pp. 303-305
-
-
ØStergaard, E.1
Montserrat-Sentis, B.2
Grønskov, K.3
-
39
-
-
59749088107
-
Prevalence of mitochondrial 1555A>G mutation in European children
-
Bitner-Glindzicz M, Pembrey M, Duncan A, et al. Prevalence of mitochondrial 1555A>G mutation in European children. N Engl J Med 2009;360:640-2.
-
(2009)
N Engl J Med
, vol.360
, pp. 640-642
-
-
Bitner-Glindzicz, M.1
Pembrey, M.2
Duncan, A.3
-
40
-
-
59749096341
-
Prevalence of mitochondrial 1555A>G mutation in adults of European descent
-
Vandebona H, Mitchell P, Manwaring N, et al. Prevalence of mitochondrial 1555A>G mutation in adults of European descent. N Engl J Med 2009;360:642-4.
-
(2009)
N Engl J Med
, vol.360
, pp. 642-644
-
-
Vandebona, H.1
Mitchell, P.2
Manwaring, N.3
-
41
-
-
0142119393
-
Prevalence of the mitochondrial DNA A1555G mutation in sensorineural deafness patients in island Southeast Asia
-
Malik S, Pieter N, Sudoyo H, et al. Prevalence of the mitochondrial DNA A1555G mutation in sensorineural deafness patients in island Southeast Asia. J Hum Genet 2003;48:480-3.
-
(2003)
J Hum Genet
, vol.48
, pp. 480-483
-
-
Malik, S.1
Pieter, N.2
Sudoyo, H.3
-
42
-
-
0027226069
-
Mitochondrial ribosomal RNA mutation associated with both antibioticinduced and non-syndromic deafness
-
Prezant T, Agapian J, Bohlman M, et al. Mitochondrial ribosomal RNA mutation associated with both antibioticinduced and non-syndromic deafness. Nat Genet 1993;4:289-94.
-
(1993)
Nat Genet
, vol.4
, pp. 289-294
-
-
Prezant, T.1
Agapian, J.2
Bohlman, M.3
-
43
-
-
0032796453
-
Genetic factors in aminoglycoside toxicity
-
Fischel-Ghodsian N. Genetic factors in aminoglycoside toxicity. Ann N Y Acad Sci 1999;884:99-109.
-
(1999)
Ann N Y Acad Sci
, vol.884
, pp. 99-109
-
-
Fischel-Ghodsian, N.1
-
44
-
-
0033858002
-
A biochemical basis for the inherited susceptibility to aminoglycoside ototoxicity
-
Guan M, Fischel-Ghodsian N, Attardi G. A biochemical basis for the inherited susceptibility to aminoglycoside ototoxicity. Hum Mol Genet 2000;9:1787-93.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 1787-1793
-
-
Guan, M.1
Fischel-Ghodsian, N.2
Attardi, G.3
-
45
-
-
0038633534
-
Aminoglycoside ototoxicity
-
Bates D. Aminoglycoside ototoxicity. Drugs Today (Barc) 2003;39:277-85.
-
(2003)
Drugs Today (Barc)
, vol.39
, pp. 277-285
-
-
Bates, D.1
-
46
-
-
17344365276
-
Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides
-
Estivill X, Govea N, Barceló E, et al. Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides. Am J Hum Genet 1998;62:27-35.
-
(1998)
Am J Hum Genet
, vol.62
, pp. 27-35
-
-
Estivill, X.1
Govea, N.2
Barceló, E.3
-
47
-
-
18544371057
-
Modifier locus for mitochondrial DNA disease: linkage and linkage disequilibrium mapping of a nuclear modifier gene for maternally inherited deafness
-
Bykhovskaya Y, Yang H, Taylor K, et al. Modifier locus for mitochondrial DNA disease: linkage and linkage disequilibrium mapping of a nuclear modifier gene for maternally inherited deafness. Genet Med;3:177-80.
-
Genet Med
, vol.3
, pp. 177-180
-
-
Bykhovskaya, Y.1
Yang, H.2
Taylor, K.3
-
48
-
-
0035132566
-
A nuclearmitochondrial DNA interaction affecting hearing impairment in mice
-
Johnson K, Zheng Q, Bykhovskaya Y, et al. A nuclearmitochondrial DNA interaction affecting hearing impairment in mice. Nat Genet 2001;27:191-4.
-
(2001)
Nat Genet
, vol.27
, pp. 191-194
-
-
Johnson, K.1
Zheng, Q.2
Bykhovskaya, Y.3
-
49
-
-
0028881897
-
Mitochondrial role in hair cell survival after injury
-
Hyde G, Rubel E. Mitochondrial role in hair cell survival after injury. Otolaryngol Head Neck Surg 1995;113:530-40.
-
(1995)
Otolaryngol Head Neck Surg
, vol.113
, pp. 530-540
-
-
Hyde, G.1
Rubel, E.2
-
50
-
-
0042828920
-
Heteroplasmy for the 1555A>G mutation in the mitochondrial 12S rRNA gene in six Spanish families with non-syndromic hearing loss
-
del Castillo F, Rodríguez-Ballesteros M, Martín Y, et al. Heteroplasmy for the 1555A>G mutation in the mitochondrial 12S rRNA gene in six Spanish families with non-syndromic hearing loss. J Med Genet 2003;40:632-6.
-
(2003)
J Med Genet
, vol.40
, pp. 632-636
-
-
del Castillo, F.1
Rodríguez-Ballesteros, M.2
Martín, Y.3
-
51
-
-
70349586360
-
Vestibular evoked myogenic potentials in patients with the mitochondrial A1555G mutation
-
Kawashima Y, Noguchi Y, Ito T, et al. Vestibular evoked myogenic potentials in patients with the mitochondrial A1555G mutation. Laryngoscope 2009;119:1874-9.
-
(2009)
Laryngoscope
, vol.119
, pp. 1874-1879
-
-
Kawashima, Y.1
Noguchi, Y.2
Ito, T.3
-
52
-
-
0030707797
-
Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous
-
Lynch E, Lee M, Morrow J, et al. Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous. Science 1997; 278: 1315-8.
-
(1997)
Science
, vol.278
, pp. 1315-1318
-
-
Lynch, E.1
Lee, M.2
Morrow, J.3
-
53
-
-
0035888652
-
Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss
-
Bespalova I, Van Camp G, Bom S, et al. Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss. Hum Mol Genet 2001;10:2501-8.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 2501-2508
-
-
Bespalova, I.1
Van Camp, G.2
Bom, S.3
-
54
-
-
17344364928
-
Mutations in the human alpha-tectorin gene cause autosomal dominant non-syndromic hearing impairment
-
Verhoeven K, Van Laer L, Kirschhofer K, et al. Mutations in the human alpha-tectorin gene cause autosomal dominant non-syndromic hearing impairment. Nat Genet 1998;19:60-2.
-
(1998)
Nat Genet
, vol.19
, pp. 60-62
-
-
Verhoeven, K.1
Van Laer, L.2
Kirschhofer, K.3
-
55
-
-
0035148222
-
Autosomal dominant inherited hearing impairment caused by a missense mutation in COL11A2 (DFNA13)
-
De Leenheer E, Kunst H, McGuirt W, et al. Autosomal dominant inherited hearing impairment caused by a missense mutation in COL11A2 (DFNA13). Arch Otolaryngol Head Neck Surg 2001;127:13-7.
-
(2001)
Arch Otolaryngol Head Neck Surg
, vol.127
, pp. 13-17
-
-
De Leenheer, E.1
Kunst, H.2
McGuirt, W.3
-
56
-
-
0036340374
-
Association of clinical features with mutation of TECTA in a family with autosomal dominant hearing loss
-
Iwasaki S, Harada D, Usami S, et al. Association of clinical features with mutation of TECTA in a family with autosomal dominant hearing loss. Arch Otolaryngol Head Neck Surg 2002;128:913-7.
-
(2002)
Arch Otolaryngol Head Neck Surg
, vol.128
, pp. 913-917
-
-
Iwasaki, S.1
Harada, D.2
Usami, S.3
-
57
-
-
0035283066
-
WFS1 (Wolfram syndrome 1) gene product: predominant subcellular localization to endoplasmic reticulum in cultured cells and neuronal expression in rat brain
-
Takeda K, Inoue H, Tanizawa Y, et al. WFS1 (Wolfram syndrome 1) gene product: predominant subcellular localization to endoplasmic reticulum in cultured cells and neuronal expression in rat brain. Hum Mol Genet 2001;10:477-84.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 477-484
-
-
Takeda, K.1
Inoue, H.2
Tanizawa, Y.3
-
58
-
-
10744222064
-
Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease
-
Cryns K, Sivakumaran T, Van den Ouweland J, et al. Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease. Hum Mutat 2003;22:275-87.
-
(2003)
Hum Mutat
, vol.22
, pp. 275-287
-
-
Cryns, K.1
Sivakumaran, T.2
Van den Ouweland, J.3
-
59
-
-
0041919371
-
Wolfram syndrome: structural and functional analyses of mutant and wild-type wolframin, the WFS1 gene product
-
Hofmann S, Philbrook C, Gerbitz K, et al. Wolfram syndrome: structural and functional analyses of mutant and wild-type wolframin, the WFS1 gene product. Hum Mol Genet 2003;12:2003-12.
-
(2003)
Hum Mol Genet
, vol.12
, pp. 2003-2012
-
-
Hofmann, S.1
Philbrook, C.2
Gerbitz, K.3
-
60
-
-
0037361670
-
The WFS1 gene, responsible for low frequency sensorineural hearing loss and Wolfram syndrome, is expressed in a variety of inner ear cells
-
Cryns K, Thys S, Van Laer L, et al. The WFS1 gene, responsible for low frequency sensorineural hearing loss and Wolfram syndrome, is expressed in a variety of inner ear cells. Histochem Cell Biol 2003;119:247-56.
-
(2003)
Histochem Cell Biol
, vol.119
, pp. 247-256
-
-
Cryns, K.1
Thys, S.2
Van Laer, L.3
-
61
-
-
0036590143
-
Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations
-
Cryns K, Pfister M, Pennings R, et al. Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations. Hum Genet 2002;110:389-94.
-
(2002)
Hum Genet
, vol.110
, pp. 389-394
-
-
Cryns, K.1
Pfister, M.2
Pennings, R.3
-
62
-
-
29144501570
-
A mutation in Wolfram syndrome type 1 gene in a Japanese family with autosomal dominant low-frequency sensorineural hearing loss
-
Noguchi Y, Yashima T, Hatanaka A, et al. A mutation in Wolfram syndrome type 1 gene in a Japanese family with autosomal dominant low-frequency sensorineural hearing loss. Acta Otolaryngol 2005;125:1189-94.
-
(2005)
Acta Otolaryngol
, vol.125
, pp. 1189-1194
-
-
Noguchi, Y.1
Yashima, T.2
Hatanaka, A.3
-
63
-
-
34249650293
-
Mutations in the WFS1 gene are a frequent cause of autosomal dominant nonsyndromic low-frequency hearing loss in Japanese
-
Fukuoka H, Kanda Y, Ohta S, et al. Mutations in the WFS1 gene are a frequent cause of autosomal dominant nonsyndromic low-frequency hearing loss in Japanese. J Hum Genet 2007;52:510-5.
-
(2007)
J Hum Genet
, vol.52
, pp. 510-515
-
-
Fukuoka, H.1
Kanda, Y.2
Ohta, S.3
-
64
-
-
74049098405
-
Additional heterozygous 2507A>C mutation of WFS1 in progressive hearing loss at lower frequencies
-
Fujikawa T, Noguchi Y, Ito T, et al. Additional heterozygous 2507A>C mutation of WFS1 in progressive hearing loss at lower frequencies. Laryngoscope 2010;120:166-71.
-
(2010)
Laryngoscope
, vol.120
, pp. 166-171
-
-
Fujikawa, T.1
Noguchi, Y.2
Ito, T.3
-
65
-
-
0017973478
-
The large vestibular aqueduct syndrome
-
Valvassori G, Clemis J. The large vestibular aqueduct syndrome. Laryngoscope 1978;88:723-8.
-
(1978)
Laryngoscope
, vol.88
, pp. 723-728
-
-
Valvassori, G.1
Clemis, J.2
-
66
-
-
33745230187
-
SIX1 mutation associated with enlargement of the vestibular aqueduct in a patient with branchio-oto syndrome
-
Ito T, Noguchi Y, Yashima T, et al. SIX1 mutation associated with enlargement of the vestibular aqueduct in a patient with branchio-oto syndrome. Laryngoscope 2006;116:796-9.
-
(2006)
Laryngoscope
, vol.116
, pp. 796-799
-
-
Ito, T.1
Noguchi, Y.2
Yashima, T.3
-
67
-
-
50549149000
-
Deaf-mutism and goitre
-
Pendred V. Deaf-mutism and goitre. Lancet 2 1896:532.
-
(1896)
Lancet
, vol.2
, pp. 532
-
-
Pendred, V.1
-
68
-
-
0032011145
-
A mutation in PDS causes non-syndromicrecessive deafness
-
Li X, Everett L, Lalwani A, et al. A mutation in PDS causes non-syndromicrecessive deafness. Nat Genet 1998;18:215-7.
-
(1998)
Nat Genet
, vol.18
, pp. 215-217
-
-
Li, X.1
Everett, L.2
Lalwani, A.3
-
69
-
-
16944366606
-
Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)
-
Everett L, Glaser B, Beck J, et al. Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). Nat Genet 1997;17:411-22.
-
(1997)
Nat Genet
, vol.17
, pp. 411-422
-
-
Everett, L.1
Glaser, B.2
Beck, J.3
-
70
-
-
0033654520
-
The PDS gene, Pendred syndrome and non-syndromic deafness DFNB4
-
Wilcox E, Everett L, Li X, et al. The PDS gene, Pendred syndrome and non-syndromic deafness DFNB4. Adv Otorhinolaryngol 2000;56:145-51.
-
(2000)
Adv Otorhinolaryngol
, vol.56
, pp. 145-151
-
-
Wilcox, E.1
Everett, L.2
Li, X.3
-
71
-
-
0035034863
-
Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations
-
Campbell C, Cucci R, Prasad S, et al. Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations. Hum Mutat 2001;17:403-11.
-
(2001)
Hum Mutat
, vol.17
, pp. 403-411
-
-
Campbell, C.1
Cucci, R.2
Prasad, S.3
-
73
-
-
0034463973
-
Pendrin, the protein encoded by the Pendred syndrome gene (PDS), is an apical porter of iodide in the thyroid and is regulated by thyroglobulinin FRTL-5 cells
-
Royaux I, Suzuki K, Mori A, et al. Pendrin, the protein encoded by the Pendred syndrome gene (PDS), is an apical porter of iodide in the thyroid and is regulated by thyroglobulinin FRTL-5 cells. Endocrinology 2000;141:839-45.
-
(2000)
Endocrinology
, vol.141
, pp. 839-845
-
-
Royaux, I.1
Suzuki, K.2
Mori, A.3
-
74
-
-
0032901865
-
The Pendred syndrome gene encodes a chloride-iodide transport protein
-
Scott D, Wang R, Kreman T, et al. The Pendred syndrome gene encodes a chloride-iodide transport protein. Nat Genet 1999;21:440-3.
-
(1999)
Nat Genet
, vol.21
, pp. 440-443
-
-
Scott, D.1
Wang, R.2
Kreman, T.3
-
75
-
-
34247860643
-
Loss of cochlear HCO3- secretion causes deafness via endolymphatic acidification and inhibition of Ca2+ reabsorption in a Pendred syndrome mouse model
-
Wangemann P, Nakaya K, Wu T, et al. Loss of cochlear HCO3- secretion causes deafness via endolymphatic acidification and inhibition of Ca2+ reabsorption in a Pendred syndrome mouse model. Am J Physiol Renal Physiol 2007;292:F1345-53.
-
(2007)
Am J Physiol Renal Physiol
, vol.292
-
-
Wangemann, P.1
Nakaya, K.2
Wu, T.3
-
76
-
-
0037390447
-
Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness
-
Park H, Shaukat S, Liu X, et al. Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness. J Med Genet 2003;40:242-8.
-
(2003)
J Med Genet
, vol.40
, pp. 242-248
-
-
Park, H.1
Shaukat, S.2
Liu, X.3
-
77
-
-
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, et al. 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 2003;11:916-22.
-
(2003)
Eur J Hum Genet
, vol.11
, pp. 916-922
-
-
Tsukamoto, K.1
Suzuki, H.2
Harada, D.3
-
78
-
-
7144261720
-
Molecular analysis of the PDS gene in Pendred syndrome
-
Coyle B, Reardon W, Herbrick J, et al. Molecular analysis of the PDS gene in Pendred syndrome. Hum Mol Genet 1998;7:1105-12.
-
(1998)
Hum Mol Genet
, vol.7
, pp. 1105-1112
-
-
Coyle, B.1
Reardon, W.2
Herbrick, J.3
-
79
-
-
34548131103
-
A distinct spectrum of SLC26A4 mutations in patients with enlarged vestibular aqueduct in China
-
Wang Q, Zhao Y, Rao S, et al. A distinct spectrum of SLC26A4 mutations in patients with enlarged vestibular aqueduct in China. Clin Genet 2007;72:245-54.
-
(2007)
Clin Genet
, vol.72
, pp. 245-254
-
-
Wang, Q.1
Zhao, Y.2
Rao, S.3
-
80
-
-
14244250194
-
Genetic basis of hearing loss associated with enlarged vestibular aqueducts in Koreans
-
Park H, Lee S, Jin H, et al. Genetic basis of hearing loss associated with enlarged vestibular aqueducts in Koreans. Clin Genet 2005;67:160-5.
-
(2005)
Clin Genet
, vol.67
, pp. 160-165
-
-
Park, H.1
Lee, S.2
Jin, H.3
-
81
-
-
36448964519
-
Clinical characteristics and genotype-phenotype correlation of hearing loss patients with SLC26A4 mutations
-
Suzuki H, Oshima A, Tsukamoto K, et al. Clinical characteristics and genotype-phenotype correlation of hearing loss patients with SLC26A4 mutations. Acta Otolaryngol 2007;127:1292-7.
-
(2007)
Acta Otolaryngol
, vol.127
, pp. 1292-1297
-
-
Suzuki, H.1
Oshima, A.2
Tsukamoto, K.3
-
82
-
-
0032169296
-
Branchio-oto-renal syndrome
-
quiz 21
-
Smith R, Schwartz C. Branchio-oto-renal syndrome. J Commun Disord 1998;31:411-20; quiz 21.
-
(1998)
J Commun Disord
, vol.31
, pp. 411-420
-
-
Smith, R.1
Schwartz, C.2
-
83
-
-
0035797094
-
The presence of a widened vestibular aqueduct and progressive sensorineural hearing loss in the branchiooto-renal syndrome. A family study
-
Stinckens C, Standaert L, Casselman J, et al. The presence of a widened vestibular aqueduct and progressive sensorineural hearing loss in the branchiooto-renal syndrome. A family study. Int J Pediatr Otorhinolaryngol 2001;59:163-72.
-
(2001)
Int J Pediatr Otorhinolaryngol
, vol.59
, pp. 163-172
-
-
Stinckens, C.1
Standaert, L.2
Casselman, J.3
-
84
-
-
10644227692
-
Evidence of progression and fluctuation of hearing impairment in branchio-oto-renal syndrome
-
Kemperman M, Koch S, Kumar S, et al. Evidence of progression and fluctuation of hearing impairment in branchio-oto-renal syndrome. Int J Audiol 2004;43:523-32.
-
(2004)
Int J Audiol
, vol.43
, pp. 523-532
-
-
Kemperman, M.1
Koch, S.2
Kumar, S.3
-
85
-
-
0018254276
-
Genetic aspects of the BOR syndrome--branchial fistulas, ear pits, hearing loss, and renal anomalies
-
Fraser F, Ling D, Clogg D, et al. Genetic aspects of the BOR syndrome--branchial fistulas, ear pits, hearing loss, and renal anomalies. Am J Med Genet 1978;2:241-52.
-
(1978)
Am J Med Genet
, vol.2
, pp. 241-252
-
-
Fraser, F.1
Ling, D.2
Clogg, D.3
-
86
-
-
10744227098
-
Six1 controls patterning of the mouse otic vesicle
-
Ozaki H, Nakamura K, Funahashi J, et al. Six1 controls patterning of the mouse otic vesicle. Development 2004;131:551-62.
-
(2004)
Development
, vol.131
, pp. 551-562
-
-
Ozaki, H.1
Nakamura, K.2
Funahashi, J.3
-
87
-
-
15644374178
-
Cloning and characterization of two vertebrate homologs of the Drosophila eyes absent gene
-
Zimmerman J, Bui Q, Steingrímsson E, et al. Cloning and characterization of two vertebrate homologs of the Drosophila eyes absent gene. Genome Res 1997;7:128-41.
-
(1997)
Genome Res
, vol.7
, pp. 128-141
-
-
Zimmerman, J.1
Bui, Q.2
Steingrímsson, E.3
-
88
-
-
0031046284
-
A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family
-
Abdelhak S, Kalatzis V, Heilig R, et al. A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family. Nat Genet 1997;15:157-64.
-
(1997)
Nat Genet
, vol.15
, pp. 157-164
-
-
Abdelhak, S.1
Kalatzis, V.2
Heilig, R.3
-
89
-
-
0032842838
-
Eya1-deficient mice lack ears and kidneys and show abnormal apoptosis of organ primordia
-
Xu P, Adams J, Peters H, et al. Eya1-deficient mice lack ears and kidneys and show abnormal apoptosis of organ primordia. Nat Genet 1999;23:113-7.
-
(1999)
Nat Genet
, vol.23
, pp. 113-117
-
-
Xu, P.1
Adams, J.2
Peters, H.3
-
90
-
-
34147143953
-
Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome
-
Hoskins B, Cramer C, Silvius D, et al. Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome. Am J Hum Genet 2007;80:800-4.
-
(2007)
Am J Hum Genet
, vol.80
, pp. 800-804
-
-
Hoskins, B.1
Cramer, C.2
Silvius, D.3
-
91
-
-
2642566992
-
Branchio-oto-renal syndrome: the mutation spectrum in EYA1 and its phenotypic consequences
-
Chang E, Menezes M, Meyer N, et al. Branchio-oto-renal syndrome: the mutation spectrum in EYA1 and its phenotypic consequences. Hum Mutat 2004;23:582-9.
-
(2004)
Hum Mutat
, vol.23
, pp. 582-589
-
-
Chang, E.1
Menezes, M.2
Meyer, N.3
-
92
-
-
2542620650
-
SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes
-
Ruf R, Xu P, Silvius D, et al. SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes. Proc Natl Acad Sci U S A 2004; 101:8090-5.
-
(2004)
Proc Natl Acad Sci U S A
, vol.101
, pp. 8090-8095
-
-
Ruf, R.1
Xu, P.2
Silvius, D.3
-
93
-
-
0037242560
-
Mutation of the EYA1 gene in patients with branchio-oto syndrome
-
Yashima T, Noguchi Y, Ishikawa K, et al. Mutation of the EYA1 gene in patients with branchio-oto syndrome. Acta Otolaryngol 2003;123:279-82.
-
(2003)
Acta Otolaryngol
, vol.123
, pp. 279-282
-
-
Yashima, T.1
Noguchi, Y.2
Ishikawa, K.3
|