-
1
-
-
14744282666
-
Sensorineural hearing loss in children
-
Smith RJ, Bale JF Jr, White KR: Sensorineural hearing loss in children. Lancet 2005; 365: 879-890
-
(2005)
Lancet
, vol.365
, pp. 879-890
-
-
Smith, R.J.1
Bale Jr, J.F.2
White, K.R.3
-
2
-
-
33646706079
-
Newborn hearing screening-a silent revolution
-
Morton CC, Nance WE: Newborn hearing screening-a silent revolution. N Engl J Med 2006; 354: 2151-2164
-
(2006)
N Engl J Med
, vol.354
, pp. 2151-2164
-
-
Morton, C.C.1
Nance, W.E.2
-
3
-
-
0034643491
-
Genetic causes of hearing loss
-
Willems PJ: Genetic causes of hearing loss. N Engl J Med 2000; 342: 1101-1109
-
(2000)
N Engl J Med
, vol.342
, pp. 1101-1109
-
-
Willems, P.J.1
-
5
-
-
0027226069
-
Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness
-
Prezant TR, Agapian JV, Bohlman MC, Bu X, Oztas S, Qiu WQ, Arnos KS,Cortopassi GA, Jaber L, Rotter JI, Shohat M, Fischel-Ghodsian N: Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness. Nat Genet 1993; 4: 289-294
-
(1993)
Nat Genet
, vol.4
, pp. 289-294
-
-
Prezant, T.R.1
Agapian, J.V.2
Bohlman, M.C.3
Bu, X.4
Oztas, S.5
Qiu, W.Q.6
Arnos, K.S.7
Cortopassi, G.A.8
Jaber, L.9
Rotter, J.I.10
Shohat, M.11
Fischel-Ghodsian, N.12
-
6
-
-
0032492217
-
Connexin-26 mutations in sporadic and inherited sensorineural deafness
-
Estivill X, Fortina P, Surrey S, Rabionet R, Melchionda S, D' Agruma L, Mansfield E, Rappaport E, Govea N, Milà M, Zelante L, Gasparini P: Connexin-26 mutations in sporadic and inherited sensorineural deafness. Lancet 1998; 351: 394-398
-
(1998)
Lancet
, vol.351
, pp. 394-398
-
-
Estivill, X.1
Fortina, P.2
Surrey, S.3
Rabionet, R.4
Melchionda, S.5
D' Agruma, L.6
Mansfield, E.7
Rappaport, E.8
Govea, N.9
Milà, M.10
Zelante, L.11
Gasparini, P.12
-
7
-
-
0031949442
-
Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive(DFNB1) hearing loss
-
Kelley PM, Harris DJ, Comer BC, Askew JW, Fowler T, Smith SD, Kimberling WJ: Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive(DFNB1) hearing loss. Am J Hum Genet 1998; 62: 792-729
-
(1998)
Am J Hum Genet
, vol.62
, pp. 792-729
-
-
Kelley, P.M.1
Harris, D.J.2
Comer, B.C.3
Askew, J.W.4
Fowler, T.5
Smith, S.D.6
Kimberling, W.J.7
-
8
-
-
28144444402
-
-
Snoeckx RL, Huygen PL, Feldmann D, Marlin S, Denoyelle F, Waligora J,Mueller-Malesinska M, Pollak A, Ploski R, Murgia A, Orzan E, Castorina P, Ambrosetti U, Nowakowska-Szyrwinska E, Bal J, Wiszniewski W, Janecke AR, Nekahm-Heis D, Seeman P, Bendova O, Kenna MA, Frangulov A, Rehm HL, Tekin M,Incesulu A, Dahl HH, du Sart D, Jenkins L, Lucas D, Bitner-Glindzicz M, AvrahamKB, Brownstein Z, del Castillo I, Moreno F, Blin N, Pfister M, Sziklai I, Toth T,Kelley PM, Cohn ES, Van Maldergem L, Hilbert P, Roux AF, Mondain M, Hoefsloot LH,Cremers CW, Löppönen T, Löppönen H, Parving A, Gronskov K, Schrijver I, Roberson J, Gualandi F, Martini A, Lina-Granade G, Pallares-Ruiz N, Correia C, Fialho G,Cryns K, Hilgert N, Van de Heyning P, Nishimura CJ, Smith RJ, Van Camp G: GJB2 mutations and degree of hearing loss: a multicenter study. Am J Hum Genet 2005; 77: 945-957
-
Snoeckx RL, Huygen PL, Feldmann D, Marlin S, Denoyelle F, Waligora J,Mueller-Malesinska M, Pollak A, Ploski R, Murgia A, Orzan E, Castorina P, Ambrosetti U, Nowakowska-Szyrwinska E, Bal J, Wiszniewski W, Janecke AR, Nekahm-Heis D, Seeman P, Bendova O, Kenna MA, Frangulov A, Rehm HL, Tekin M,Incesulu A, Dahl HH, du Sart D, Jenkins L, Lucas D, Bitner-Glindzicz M, AvrahamKB, Brownstein Z, del Castillo I, Moreno F, Blin N, Pfister M, Sziklai I, Toth T,Kelley PM, Cohn ES, Van Maldergem L, Hilbert P, Roux AF, Mondain M, Hoefsloot LH,Cremers CW, Löppönen T, Löppönen H, Parving A, Gronskov K, Schrijver I, Roberson J, Gualandi F, Martini A, Lina-Granade G, Pallares-Ruiz N, Correia C, Fialho G,Cryns K, Hilgert N, Van de Heyning P, Nishimura CJ, Smith RJ, Van Camp G: GJB2 mutations and degree of hearing loss: a multicenter study. Am J Hum Genet 2005; 77: 945-957
-
-
-
-
9
-
-
10744224474
-
Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands
-
Pandya A, Arnos KS, Xia XJ, Welch KO, Blanton SH, Friedman TB, Garcia Sanchez G, Liu MD XZ, Morell R, Nance WE: Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands. Genet Med 2003; 5: 295-303
-
(2003)
Genet Med
, vol.5
, pp. 295-303
-
-
Pandya, A.1
Arnos, K.S.2
Xia, X.J.3
Welch, K.O.4
Blanton, S.H.5
Friedman, T.B.6
Garcia Sanchez, G.7
Liu, M.X.8
Morell, R.9
Nance, W.E.10
-
10
-
-
16944366606
-
Pendred syndrome is caused by mutations in a putative sulphate transporter gene(PDS)
-
Everett LA, Glaser B, Beck JC, Idol JR, Buchs A, Heyman M, Adawi F, Hazani E,Nassir E, Baxevanis AD, Sheffield VC, Green ED: Pendred syndrome is caused by mutations in a putative sulphate transporter gene(PDS). Nat Genet 1997; 17: 411-422
-
(1997)
Nat Genet
, vol.17
, pp. 411-422
-
-
Everett, L.A.1
Glaser, B.2
Beck, J.C.3
Idol, J.R.4
Buchs, A.5
Heyman, M.6
Adawi, F.7
Hazani, E.8
Nassir, E.9
Baxevanis, A.D.10
Sheffield, V.C.11
Green, E.D.12
-
11
-
-
13444254030
-
SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): Evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities
-
Pryor SP, Madeo AC, Reynolds JC, Sarlis NJ, Arnos KS, Nance WE, Yang Y, Zalewski CK, Brewer CC, Butman JA, Griffith AJ: SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities. J Med Genet 2005; 42: 159-165
-
(2005)
J Med Genet
, vol.42
, pp. 159-165
-
-
Pryor, S.P.1
Madeo, A.C.2
Reynolds, J.C.3
Sarlis, N.J.4
Arnos, K.S.5
Nance, W.E.6
Yang, Y.7
Zalewski, C.K.8
Brewer, C.C.9
Butman, J.A.10
Griffith, A.J.11
-
12
-
-
13844250411
-
Audiological features and mitochondrial DNA sequence in a large family carrying mitochondrial A1555G mutation without use of aminoglycoside
-
Matsunaga T, Kumanomido H, Shiroma M, Goto Y, Usami S: Audiological features and mitochondrial DNA sequence in a large family carrying mitochondrial A1555G mutation without use of aminoglycoside. Ann Otol Rhinol Laryngol 2005; 114: 153-160
-
(2005)
Ann Otol Rhinol Laryngol
, vol.114
, pp. 153-160
-
-
Matsunaga, T.1
Kumanomido, H.2
Shiroma, M.3
Goto, Y.4
Usami, S.5
-
13
-
-
0033976931
-
The spectrum of hearing loss due to mitochondrial DNA defects
-
Chinnery PF, Elliott C, Green GR, Rees A, Coulthard A, Turnbull DM, Griffiths TD: The spectrum of hearing loss due to mitochondrial DNA defects. Brain 2000; 123 (Pt 1): 82-92
-
(2000)
Brain
, vol.123
, Issue.PART 1
, pp. 82-92
-
-
Chinnery, P.F.1
Elliott, C.2
Green, G.R.3
Rees, A.4
Coulthard, A.5
Turnbull, D.M.6
Griffiths, T.D.7
-
14
-
-
2942592233
-
Deafness due to A1555G mitochondrial mutation without use of aminoglycoside
-
Matsunaga T, Kumanomido H, Shiroma M, Ohtsuka A, Asamura K, Usami S: Deafness due to A1555G mitochondrial mutation without use of aminoglycoside. Laryngoscope 2004; 114: 1085-1091
-
(2004)
Laryngoscope
, vol.114
, pp. 1085-1091
-
-
Matsunaga, T.1
Kumanomido, H.2
Shiroma, M.3
Ohtsuka, A.4
Asamura, K.5
Usami, S.6
-
15
-
-
33646674466
-
Language ability after early detection of permanent childhood hearing impairment
-
Kennedy CR, McCann DC, Campbell MJ, Law CM, Mullee M, Petrou S, Watkin P, Worsfold S, Yuen HM, Stevenson J: Language ability after early detection of permanent childhood hearing impairment. N Engl J Med 2006; 354: 2131-2141
-
(2006)
N Engl J Med
, vol.354
, pp. 2131-2141
-
-
Kennedy, C.R.1
McCann, D.C.2
Campbell, M.J.3
Law, C.M.4
Mullee, M.5
Petrou, S.6
Watkin, P.7
Worsfold, S.8
Yuen, H.M.9
Stevenson, J.10
-
17
-
-
30644460913
-
Clinical course of hearing and language development in GJB2 and non-GJB2 deafness following habilitation with hearing aids
-
Matsunaga T, Hirota E, Bito S, Niimi S, Usami S: Clinical course of hearing and language development in GJB2 and non-GJB2 deafness following habilitation with hearing aids. Audiol Neurootol 2006; 11: 59-68
-
(2006)
Audiol Neurootol
, vol.11
, pp. 59-68
-
-
Matsunaga, T.1
Hirota, E.2
Bito, S.3
Niimi, S.4
Usami, S.5
-
18
-
-
0031004773
-
Genetic and clinical features of sensorineural hearing loss associated with the 1555 mitochondrial mutation
-
Usami S, Abe S, Kasai M, Shinkawa H, Moeller B, Kenyon JB, Kimberling WJ: Genetic and clinical features of sensorineural hearing loss associated with the 1555 mitochondrial mutation. Laryngoscope 1997; 107: 483-490
-
(1997)
Laryngoscope
, vol.107
, pp. 483-490
-
-
Usami, S.1
Abe, S.2
Kasai, M.3
Shinkawa, H.4
Moeller, B.5
Kenyon, J.B.6
Kimberling, W.J.7
-
19
-
-
34247898894
-
Diagnosis of Alport syndrome without biopsy?
-
Gubler MC: Diagnosis of Alport syndrome without biopsy? Pediatr Nephrol 2007; 22: 621-625
-
(2007)
Pediatr Nephrol
, vol.22
, pp. 621-625
-
-
Gubler, M.C.1
-
20
-
-
0032947634
-
A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness
-
Yasunaga S, Grati M, Cohen-Salmon M, El-Amraoui A, Mustapha M, Salem N, El-ZirE, Loiselet J, Petit C: A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness. Nat Genet 1999; 21: 363-369
-
(1999)
Nat Genet
, vol.21
, pp. 363-369
-
-
Yasunaga, S.1
Grati, M.2
Cohen-Salmon, M.3
El-Amraoui, A.4
Mustapha, M.5
Salem, N.6
ZirE, E.7
Loiselet, J.8
Petit, C.9
-
21
-
-
33344472435
-
Results of cochlear implantation in two children with mutations in the OTOF gene
-
Rouillon I, Marcolla A, Roux I, Marlin S, Feldmann D, Couderc R, Jonard L,Petit C, Denoyelle F, Garabédian EN, Loundon N: Results of cochlear implantation in two children with mutations in the OTOF gene. Int J Pediatr Otorhinolaryngol 2006; 70: 689-696
-
(2006)
Int J Pediatr Otorhinolaryngol
, vol.70
, pp. 689-696
-
-
Rouillon, I.1
Marcolla, A.2
Roux, I.3
Marlin, S.4
Feldmann, D.5
Couderc, R.6
Jonard, L.7
Petit, C.8
Denoyelle, F.9
Garabédian, E.N.10
Loundon, N.11
-
22
-
-
44849114793
-
-
Rodríguez-Ballesteros M, Reynoso R, Olarte M, Villamar M, Morera C, SantarelliR, Arslan E, Medá C, Curet C, Völter C, Sainz-Quevedo M, Castorina P, Ambrosetti U, Berrettini S, Frei K, Tedín S, Smith J, Cruz Tapia M, Cavallé L, Gelvez N, Primignani P, Gómez-Rosas E, Martín M, Moreno-Pelayo MA, Tamayo M, Moreno-Barral J, Moreno F, del Castillo I: A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy. Hum Mutat 2008; 29: 823-831
-
Rodríguez-Ballesteros M, Reynoso R, Olarte M, Villamar M, Morera C, SantarelliR, Arslan E, Medá C, Curet C, Völter C, Sainz-Quevedo M, Castorina P, Ambrosetti U, Berrettini S, Frei K, Tedín S, Smith J, Cruz Tapia M, Cavallé L, Gelvez N, Primignani P, Gómez-Rosas E, Martín M, Moreno-Pelayo MA, Tamayo M, Moreno-Barral J, Moreno F, del Castillo I: A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy. Hum Mutat 2008; 29: 823-831
-
-
-
-
23
-
-
3242773612
-
A novel animal model of acute cochlear mitochondrial dysfunction
-
Hoya N, Okamoto Y, Kamiya K, Fujii M, Matsunaga T: A novel animal model of acute cochlear mitochondrial dysfunction. Neuroreport 2004; 15: 1597-1600
-
(2004)
Neuroreport
, vol.15
, pp. 1597-1600
-
-
Hoya, N.1
Okamoto, Y.2
Kamiya, K.3
Fujii, M.4
Matsunaga, T.5
-
24
-
-
20844458850
-
Permanent threshold shift caused by acute cochlear mitochondrial dysfunction is primarily mediated by degeneration of the lateral wall of the cochlea
-
Okamoto Y, Hoya N, Kamiya K, Fujii M, Ogawa K, Matsunaga T: Permanent threshold shift caused by acute cochlear mitochondrial dysfunction is primarily mediated by degeneration of the lateral wall of the cochlea. Audiol Neurootol 2005; 10: 220-233
-
(2005)
Audiol Neurootol
, vol.10
, pp. 220-233
-
-
Okamoto, Y.1
Hoya, N.2
Kamiya, K.3
Fujii, M.4
Ogawa, K.5
Matsunaga, T.6
-
25
-
-
38049011064
-
Caspase inhibitor facilitates recovery of hearing by protecting the cochlear lateral wall from acute cochlear mitochondrial dysfunction
-
Mizutari K, Matsunaga T, Kamiya K, Fujinami Y, Fujii M, Ogawa K: Caspase inhibitor facilitates recovery of hearing by protecting the cochlear lateral wall from acute cochlear mitochondrial dysfunction. J Neurosci Res 2008; 86: 215-222
-
(2008)
J Neurosci Res
, vol.86
, pp. 215-222
-
-
Mizutari, K.1
Matsunaga, T.2
Kamiya, K.3
Fujinami, Y.4
Fujii, M.5
Ogawa, K.6
-
26
-
-
34547702734
-
Mesenchymal stem cell transplantation accelerates hearing recovery through the repair of injured cochlear fibrocytes
-
Kamiya K, Fujinami Y, Hoya N, Okamoto Y, Kouike H, Komatsuzaki R, Kusano R, Nakagawa S, Satoh H, Fujii M, Matsunaga T: Mesenchymal stem cell transplantation accelerates hearing recovery through the repair of injured cochlear fibrocytes. Am J Pathol 2007; 171: 214-226
-
(2007)
Am J Pathol
, vol.171
, pp. 214-226
-
-
Kamiya, K.1
Fujinami, Y.2
Hoya, N.3
Okamoto, Y.4
Kouike, H.5
Komatsuzaki, R.6
Kusano, R.7
Nakagawa, S.8
Satoh, H.9
Fujii, M.10
Matsunaga, T.11
|