-
1
-
-
1842452626
-
Mitochondrial hearing impairment
-
Fischel-Ghodsian, N. (2003) Mitochondrial hearing impairment. Audiol. Med. 1, 55-66
-
(2003)
Audiol. Med.
, vol.1
, pp. 55-66
-
-
Fischel-Ghodsian, N.1
-
2
-
-
0033976931
-
The spectrum of hearing loss due to mitochondrial dna defects
-
Chinnery, P. F., Elliott, C., Green, G. R., Rees, A., Coulthard, A., Turnbull, D. M. and Griffiths, T. D. (2000) The spectrum of hearing loss due to mitochondrial DNA defects. Brain 123, 82-92
-
(2000)
Brain
, vol.123
, 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
-
3
-
-
0029832209
-
Audiovestibular findings in patients with deafness caused by a mitochondrial susceptibility mutation and precipitated by an inherited nuclear mutation or aminiglycosides
-
Braverman, I., Jaber, L., Levi, H., Adelman, C., Arons, K. S., Fischel-Ghodsian, N., Shohat, M. and Elidan, J. (1996) Audiovestibular findings in patients with deafness caused by a mitochondrial susceptibility mutation and precipitated by an inherited nuclear mutation or aminiglycosides. Arch. Otolaryngol. Head Neck Surg. 22, 1001-1004
-
(1996)
Arch. Otolaryngol. Head Neck Surg.
, vol.22
, pp. 1001-1004
-
-
Braverman, I.1
Jaber, L.2
Levi, H.3
Adelman, C.4
Arons, K.S.5
Fischel-Ghodsian, N.6
Shohat, M.7
Elidan, J.8
-
4
-
-
0032511738
-
Hearing loss due to the mitochondrial a1555g mutation in italian families
-
Casano, R. A., Bykhovskaya, Y., Johnson, D. F., Hamon, M., Torricelli, F., Bigozzi, M. and Fischel-Ghodsian, N. (1998) Hearing loss due to the mitochondrial A1555G mutation in Italian families. Am. J. Med. Genet. 79, 388-391
-
(1998)
Am. J. Med. Genet.
, vol.79
, pp. 388-391
-
-
Casano, R.A.1
Bykhovskaya, Y.2
Johnson, D.F.3
Hamon, M.4
Torricelli, F.5
Bigozzi, M.6
Fischel-Ghodsian, N.7
-
5
-
-
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. J., Rodriguez-Ballesteros, M., Martin, Y., Arellano, B., Gallo-Teran, J., Morales-Angulo, C., Ramirez-Camacho, R., Cruz Tapia, M., Solanellas, J. and Martinez-Conde, A. (2003) Heteroplasmy for the 1555A>G mutation in the mitochondrial 12S rRNA gene in six Spanish families with non-syndromic hearing loss. J. Med. Genet. 40, 632-636
-
(2003)
J. Med. Genet.
, vol.40
, pp. 632-636
-
-
Del Castillo, F.J.1
Rodriguez-Ballesteros, M.2
Martin, Y.3
Arellano, B.4
Gallo-Teran, J.5
Morales-Angulo, C.6
Ramirez-Camacho, R.7
Cruz Tapia, M.8
Solanellas, J.9
Martinez-Conde, A.10
-
6
-
-
0034768114
-
Hearing impairment is common in various phenotypes of the mitochondrial dna a3243g mutation
-
Deschauer, M., Muller, T., Wieser, T., Schulte-Mattler, W., Kornhuber, M. and Zierz, S. (2001) Hearing impairment is common in various phenotypes of the mitochondrial DNA A3243G mutation. Arch. Neurol. 58, 1885-1888
-
(2001)
Arch. Neurol.
, vol.58
, pp. 1885-1888
-
-
Deschauer, M.1
Muller, T.2
Wieser, T.3
Schulte-Mattler, W.4
Kornhuber, M.5
Zierz, S.6
-
7
-
-
0343852695
-
Spanish pedigrees with non syndromic sensorineural deafness and the mtdna mutation at nt 1555 in the 12srrna gene: Evidence of heteroplasmy
-
El-Schahawi, M., deMunain, L., Sarrazin, A. M., Shanske, A. L., Basirico, M., Shanske, S. and DiMauro, S. (1997) Spanish pedigrees with non syndromic sensorineural deafness and the mtDNA mutation at nt 1555 in the 12SrRNA gene: evidence of heteroplasmy. Neurology 48, 43-46
-
(1997)
Neurology
, vol.48
, pp. 43-46
-
-
El-Schahawi, M.1
DeMunain, L.2
Sarrazin, A.3
Shanske, A.4
Basirico, M.5
Shanske, S.6
DiMauro, S.7
-
8
-
-
17344365276
-
Familial progressive sensorineural deafness is mainly due to the mt dna a1555g mutation and is enhanced by treatment of aminoglycosides
-
Estivill, X., Govea, N., Barcelo, E., Badenas, C., Romero, E., Moral, L., Scozzri, R., D'Urbano, L., Zeviani, M. and Torroni, A. (1998) Familial progressive sensorineural deafness is mainly due to the mt DNA A1555G mutation and is enhanced by treatment of aminoglycosides. Am. J. Hum. Genet. 62, 15-19
-
(1998)
Am. J. Hum. Genet.
, vol.62
, pp. 15-19
-
-
Estivill, X.1
Govea, N.2
Barcelo, E.3
Badenas, C.4
Romero, E.5
Moral, L.6
Scozzri, R.7
D'Urbano, L.8
Zeviani, M.9
Torroni, A.10
-
9
-
-
0035141409
-
Maternally inherited hearing impairment in a family with the mitochondrial dna a7445g mutation
-
Hutchin, T. P., Lench, N. J., Arbuzova, S., Markham, A. F. and Mueller, R. F. (2001) Maternally inherited hearing impairment in a family with the mitochondrial DNA A7445G mutation. Eur. J. Hum. Genet. 9, 56-58
-
(2001)
Eur. J. Hum. Genet.
, vol.9
, pp. 56-58
-
-
Hutchin, T.P.1
Lench, N.J.2
Arbuzova, S.3
Markham, A.F.4
Mueller, R.F.5
-
10
-
-
0033833303
-
A novel mutation in the mitochondrial trnaser(ucn) gene in a family with non-syndromic sensorineural hearing impairment
-
Hutchin, T. P., Parker, M. J., Young, I. D., Davis, A. C., Pulleyn, L. J., Deeble, J., Lench, N. J., Markham, A. F. and Mueller, R. F. (2000) A novel mutation in the mitochondrial tRNASer(UCN) gene in a family with non-syndromic sensorineural hearing impairment. J. Med. Genet. 37, 692-694
-
(2000)
J. Med. Genet.
, vol.37
, pp. 692-694
-
-
Hutchin, T.P.1
Parker, M.J.2
Young, I.D.3
Davis, A.C.4
Pulleyn, L.J.5
Deeble, J.6
Lench, N.J.7
Markham, A.F.8
Mueller, R.F.9
-
11
-
-
0034116896
-
Frequency of mitochondrial dna point mutations among patients with familial sensorineural hearing impairment
-
Lehtonen, M. S., Uimonen, S., Hassinen, I. E. and Majamaa, K. (2000) Frequency of mitochondrial DNA point mutations among patients with familial sensorineural hearing impairment. Eur. J. Hum. Genet. 8, 315-318
-
(2000)
Eur. J. Hum. Genet.
, vol.8
, pp. 315-318
-
-
Lehtonen, M.S.1
Uimonen, S.2
Hassinen, I.E.3
Majamaa, K.4
-
12
-
-
0027226069
-
Mitochondrial ribosomal rna mutation associated with both antibiotic-induced and non-syndromic deafness
-
Prezant, T. R., Agapian, J. V., Bohlmann, M. C., Bu, X., Oztas, S., Qiu, W. Q., Arnos, K. S., Cortopassi, G. A., Jaber, L., Rotter, J. I. et al. (1993) Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness. Nat. Genet. 4, 289-294
-
(1993)
Nat. Genet.
, vol.4
, pp. 289-294
-
-
Prezant, T.R.1
Agapian, J.V.2
Bohlmann, 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
-
13
-
-
0033366515
-
Maternally inherited cardiomyopathy: An atypical presentation of the mtdna 12s rrna gene a1555g mutation
-
Santorelli, F. M., Tanji, K., Manta, P., Casali, C., Krishna, S., Hays, A. P., Mancini, D. M., DiMauro, S. and Hirano, M. (1999) Maternally inherited cardiomyopathy: an atypical presentation of the mtDNA 12S rRNA gene A1555G mutation. Am. J. Hum. Genet. 64, 295-300
-
(1999)
Am. J. Hum. Genet.
, vol.64
, pp. 295-300
-
-
Santorelli, F.M.1
Tanji, K.2
Manta, P.3
Casali, C.4
Krishna, S.5
Hays, A.P.6
Mancini, D.M.7
DiMauro, S.8
Hirano, M.9
-
14
-
-
0029945725
-
Association of mitochondrial dna deletions and cochlear pathology: A molecular biologic tool
-
Seidman, M. D., Bai, U., Khan, M. J., Murphy, M. P., Quirk, W. S., Castora, F. L. and Hinojosa, R. (1996) Association of mitochondrial DNA deletions and cochlear pathology: a molecular biologic tool. Laryngoscope 106, 777-783
-
(1996)
Laryngoscope
, vol.106
, pp. 777-783
-
-
Seidman, M.D.1
Bai, U.2
Khan, M.J.3
Murphy, M.P.4
Quirk, W.S.5
Castora, F.L.6
Hinojosa, R.7
-
15
-
-
0031962646
-
Mitochondrial a7445g mutation in two pedigrees with palmoplantar keratoderma and deafness
-
Sevior, K. B., Hatamochi, A., Stewart, I. A., Bykhovskaya, Y., Allen-Powell, D. R., Fischel-Ghodsian, N. and Maw, M. A. (1998) Mitochondrial A7445G mutation in two pedigrees with palmoplantar keratoderma and deafness. Am. J. Med. Genet. 13, 179-185
-
(1998)
Am. J. Med. Genet.
, vol.13
, pp. 179-185
-
-
Sevior, K.B.1
Hatamochi, A.2
Stewart, I.A.3
Bykhovskaya, Y.4
Allen-Powell, D.R.5
Fischel-Ghodsian, N.6
Maw, M.A.7
-
16
-
-
32344452298
-
Mitochondrial 12s rrna gene mutations affect rna secondary structure and lead to variable penetrance in hearing impairment
-
Ballana, E., Morales, E., Rabionet, R., Montserrat, B., Ventayol, M., Bravo, O., Gasparini, P. and Estivill, X. (2006) Mitochondrial 12S rRNA gene mutations affect RNA secondary structure and lead to variable penetrance in hearing impairment. Biochem. Biophys. Res. Commun. 341, 950-957
-
(2006)
Biochem. Biophys. Res. Commun.
, vol.341
, pp. 950-957
-
-
Ballana, E.1
Morales, E.2
Rabionet, R.3
Montserrat, B.4
Ventayol, M.5
Bravo, O.6
Gasparini, P.7
Estivill, X.8
-
17
-
-
33646087204
-
Cochlear alterations in deaf and unaffected subjects carrying the deafness-associated a1555g mutation in the mitochondrial 12s rrna gene
-
Bravo, O., Ballana, E. and Estivill, X. (2006) Cochlear alterations in deaf and unaffected subjects carrying the deafness-associated A1555G mutation in the mitochondrial 12S rRNA gene. Biochem. Biophys. Res. Commun. 344, 511-516
-
(2006)
Biochem. Biophys. Res. Commun.
, vol.344
, pp. 511-516
-
-
Bravo, O.1
Ballana, E.2
Estivill, X.3
-
18
-
-
13044279515
-
Inherited susceptibility to aminoglycoside ototoxicity: Genetic heterogeneity and clinical implications
-
Casano, R. A. M. S., Johnson, D. F., Hamon, M., Bykhovskaya, Y., Torricelli, F., Bigozzi, M. and Fischel-Ghodsian, N. (1999) Inherited susceptibility to aminoglycoside ototoxicity: genetic heterogeneity and clinical implications. Am. J. Otolaryngol. 20, 151-156
-
(1999)
Am. J. Otolaryngol.
, vol.20
, pp. 151-156
-
-
Casano, R.A.M.S.1
Johnson, D.F.2
Hamon, M.3
Bykhovskaya, Y.4
Torricelli, F.5
Bigozzi, M.6
Fischel-Ghodsian, N.7
-
19
-
-
0347003512
-
Maternally inherited aminoglycoside-induced and nonsyndromic deafness is associated with the novel c1494t mutation in the mitochondrial 12s rrna gene in a large chinese family
-
Zhao, H., Li, R., Wang, Q., Yan, Q., Deng, J. H., Han, D., Bai, Y., Young, W. Y. and Guan, M. X. (2004) Maternally inherited aminoglycoside-induced and nonsyndromic deafness is associated with the novel C1494T mutation in the mitochondrial 12S rRNA gene in a large Chinese family. Am. J. Hum. Genet. 74, 139-152
-
(2004)
Am. J. Hum. Genet.
, Issue.74
, pp. 139-152
-
-
Zhao, H.1
Li, R.2
Wang, Q.3
Yan, Q.4
Deng, J.H.5
Han, D.6
Bai, Y.7
Young, W.Y.8
Guan, M.X.9
-
20
-
-
0029003553
-
Susceptibility mutations in the mitochondrial small ribosomal rna gene in aminoglycoside induced deafness
-
Bacino, C., Prezant, T. R., Bu, X., Fournier, P. and Fischel-Ghodsian, N. (1995) Susceptibility mutations in the mitochondrial small ribosomal RNA gene in aminoglycoside induced deafness. Pharmacogenetics 5, 165-172
-
(1995)
Pharmacogenetics
, vol.5
, pp. 165-172
-
-
Bacino, C.1
Prezant, T.R.2
Bu, X.3
Fournier, P.4
Fischel-Ghodsian, N.5
-
21
-
-
0036281801
-
Aminoglycoside-induced hearing loss in a patient with the 961 mutation in mitochondrial dna. Orl
-
Yoshida, M., Shintani, T., Hirao, M., Himi, T., Yamaguchi, A. and Kikuchi, K. (2002) Aminoglycoside-induced hearing loss in a patient with the 961 mutation in mitochondrial DNA. ORL, J. Otorhinolaryngol. Relat. Spec. 64, 219-222
-
(2002)
J. Otorhinolaryngol. Relat. Spec.
, vol.64
, pp. 219-222
-
-
Yoshida, M.1
Shintani, T.2
Hirao, M.3
Himi, T.4
Yamaguchi, A.5
Kikuchi, K.6
-
22
-
-
0344167734
-
Cosegregation of c-insertion at position 961 with the a1555g mutation of the mitochondrial 12s rrna gene in a large chinese family with maternally inherited hearing loss
-
Li, R., Xing, G., Yan, M., Cao, X., Liu, X. Z., Bu, X. and Guan, M. X. (2004) Cosegregation of C-insertion at position 961 with the A1555G mutation of the mitochondrial 12S rRNA gene in a large Chinese family with maternally inherited hearing loss. Am. J. Med. Genet. A 124, 113-117
-
(2004)
Am. J. Med. Genet. A
, vol.124
, pp. 113-117
-
-
Li, R.1
Xing, G.2
Yan, M.3
Cao, X.4
Liu, X.Z.5
Bu, X.6
Guan, M.X.7
-
23
-
-
0037340257
-
Frequency of mtdna a1555g and a7445g mutations among children with prelingual deafness in turkey
-
Tekin, M., Duman, T., Bogoclu, G., Incesulu, A., Comak, E., Fitoz, S., Yilmaz, E., Ilhan, I. and Akar, N. (2003) Frequency of mtDNA A1555G and A7445G mutations among children with prelingual deafness in Turkey. Eur. J. Pediatr. 162, 154-158
-
(2003)
Eur. J. Pediatr.
, vol.162
, pp. 154-158
-
-
Tekin, M.1
Duman, T.2
Bogoclu, G.3
Incesulu, A.4
Comak, E.5
Fitoz, S.6
Yilmaz, E.7
Ilhan, I.8
Akar, N.9
-
24
-
-
0031394856
-
The effect on mitochondrial function of the trnaser(ucn)/coi a7445g mtdna point mutation associated with maternally-inherited sensorineural deafness
-
Hyslop, S. J., James, A. M., Maw, M., Fischel-Ghodsian, N. and Murphy, M. P. (1997) The effect on mitochondrial function of the tRNASer(UCN)/COI A7445G mtDNA point mutation associated with maternally-inherited sensorineural deafness. Biochem. Mol. Biol. Int. 42, 567-575
-
(1997)
Biochem. Mol. Biol. Int.
, vol.42
, pp. 567-575
-
-
Hyslop, S.J.1
James, A.M.2
Maw, M.3
Fischel-Ghodsian, N.4
Murphy, M.P.5
-
25
-
-
0034986222
-
Multiple origins of the mtdna 7472insc mutation associated with hearing loss and neurological dysfunction
-
Hutchin, T. P., Navarro-Coy, N. C., Van Camp, G., Tiranti, V., Zeviani, M., Schuelke, M., Jaksch, M., Newton, V. and Mueller, R. F. (2001) Multiple origins of the mtDNA 7472insC mutation associated with hearing loss and neurological dysfunction. Eur. J. Hum. Genet. 9, 385-387
-
(2001)
Eur. J. Hum. Genet.
, vol.9
, pp. 385-387
-
-
Hutchin, T.P.1
Navarro-Coy, N.C.2
Van Camp, G.3
Tiranti, V.4
Zeviani, M.5
Schuelke, M.6
Jaksch, M.7
Newton, V.8
Mueller, R.F.9
-
26
-
-
0032958455
-
Different penetrance of neurological symptoms associated with a mutation in the mitochondrial trnaser(ucn) gene
-
Verhoeven, K., Ensink, R. J. H., Tiranti, V., Huygen, P., Johnson, D. F., Schatteman, I., Van Laer, L., Verstreken, M., Van de Heyning, P., Fischel-Ghodsian, N. et al. (1999) Different penetrance of neurological symptoms associated with a mutation in the mitochondrial tRNASer(UCN) gene. Eur. J. Hum. Genet. 7, 45-51
-
(1999)
Eur. J. Hum. Genet.
, vol.7
, pp. 45-51
-
-
Verhoeven, K.1
Ensink, R.J.H.2
Tiranti, V.3
Huygen, P.4
Johnson, D.F.5
Schatteman, I.6
Van Laer, L.7
Verstreken, M.8
Van De Heyning, P.9
Fischel-Ghodsian, N.10
-
27
-
-
0036930715
-
Two large french pedigrees with non syndromic sensorineural deafness and the mitochondrial dna t7511c mutation: Evidence for a modulatory factor
-
Chapiro, E., Feldmann, D., Denoyelle, F., Sternberg, D., Jardel, C., Eliot, M. M., Bouccara, D., Weil, D., Garabedian, E. N. et al. (2002) Two large French pedigrees with non syndromic sensorineural deafness and the mitochondrial DNA T7511C mutation: evidence for a modulatory factor. Eur. J. Hum. Genet. 10, 851-856
-
(2002)
Eur. J. Hum. Genet.
, vol.10
, pp. 851-856
-
-
Chapiro, E.1
Feldmann, D.2
Denoyelle, F.3
Sternberg, D.4
Jardel, C.5
Eliot, M.M.6
Bouccara, D.7
Weil, D.8
Garabedian, E.N.9
-
28
-
-
0036348122
-
Nonsyndromic hearing loss caused by a mitochondrial t7511c mutation
-
Ishikawa, K., Tamagawa, Y., Takahashi, K., Kimura, H., Kusakari, J., Hara, A. and Ichimura, K. (2002) Nonsyndromic hearing loss caused by a mitochondrial T7511C mutation. Laryngoscope 112, 1494-1499
-
(2002)
Laryngoscope
, vol.112
, pp. 1494-1499
-
-
Ishikawa, K.1
Tamagawa, Y.2
Takahashi, K.3
Kimura, H.4
Kusakari, J.5
Hara, A.6
Ichimura, K.7
-
29
-
-
12844286161
-
Maternally inherited nonsyndromic hearing loss is associated with the t7511c mutation in the mitochondrial trnaserucn gene in a japanese family
-
Li, R. (2005) Maternally inherited nonsyndromic hearing loss is associated with the T7511C mutation in the mitochondrial tRNASerUCN gene in a Japanese family. Biochem. Biophys. Res. Commun. 328, 32-37
-
(2005)
Biochem. Biophys. Res. Commun.
, vol.328
, pp. 32-37
-
-
Li, R.1
-
30
-
-
20344407298
-
Mutational analysis of the mitochondrial 12s rrna gene in chinese pediatric subjects with aminoglycoside-induced and non-syndromic hearing loss
-
Li, Z., Li, R., Chen, J., Liao, Z., Zhu, Y., Qian, Y., Xiong, S., Heman-Ackah, S., Wu, J., Choo, D. I. and Guan, M. X. (2005) Mutational analysis of the mitochondrial 12S rRNA gene in Chinese pediatric subjects with aminoglycoside-induced and non-syndromic hearing loss. Hum. Genet. 117, 9-15
-
(2005)
Hum. Genet.
, vol.117
, pp. 9-15
-
-
Li, Z.1
Li, R.2
Chen, J.3
Liao, Z.4
Zhu, Y.5
Qian, Y.6
Xiong, S.7
Heman-Ackah, S.8
Wu, J.9
Choo, D.I.10
Guan, M.X.11
-
31
-
-
70350411987
-
Mitochondrial dna deletion is a predisposing cause for sensorineural hearing loss
-
Ueda, N., Oshima, T., Ikeda, K., Abe, K., Aoki, M. and Takasaka, T. (1998) Mitochondrial DNA deletion is a predisposing cause for sensorineural hearing loss. Laryngoscope 108, 580-584
-
(1998)
Laryngoscope
, vol.108
, pp. 580-584
-
-
Ueda, N.1
Oshima, T.2
Ikeda, K.3
Abe, K.4
Aoki, M.5
Takasaka, T.6
-
32
-
-
0035114464
-
Sudden bilateral hearing loss and sporadic mitochondrial dna deletion
-
Berrettini, S., Forli, F., Siciliano, G. and Mancuso, M. (2001) Sudden bilateral hearing loss and sporadic mitochondrial DNA deletion. J. Laryngol. Otol. 115, 128-131
-
(2001)
J. Laryngol. Otol.
, vol.115
, pp. 128-131
-
-
Berrettini, S.1
Forli, F.2
Siciliano, G.3
Mancuso, M.4
-
33
-
-
0032130635
-
Approccio diagnostico e terapeutico alle ipoacusie neurosensoriali progressive
-
Berrettini, S., Ravecca, F., Forli, F., Sellari-Franceschini, S. and Piragine, F. (1998) Approccio diagnostico e terapeutico alle ipoacusie neurosensoriali progressive. Acta Otorhinolaryngol. Ital. (Suppl.) 59, 87-94
-
(1998)
Acta Otorhinolaryngol Ital.
, vol.59
, Issue.SUPPL.
, pp. 87-94
-
-
Berrettini, S.1
Ravecca, F.2
Forli, F.3
Sellari-Franceschini, S.4
Piragine, F.5
-
34
-
-
0029875973
-
Cytochemistry and immunocytochemistry of mitochondria in tissue sections
-
Sciacco, M. and Bonilla, E. (1996) Cytochemistry and immunocytochemistry of mitochondria in tissue sections. Methods Enzymol. 264, 509-521
-
(1996)
Methods Enzymol.
, vol.264
, pp. 509-521
-
-
Sciacco, M.1
Bonilla, E.2
-
36
-
-
0023813744
-
Deletions of mitochondrial dna in kearns-sayre syndrome
-
Zeviani, M., Moraes, C. T. and DiMauro, S. (1988) Deletions of mitochondrial DNA in Kearns-Sayre syndrome. Neurology 38, 1339-1346
-
(1988)
Neurology
, vol.38
, pp. 1339-1346
-
-
Zeviani, M.1
Moraes, C.T.2
DiMauro, S.3
-
37
-
-
0034114952
-
Maternally inherited hearing impairment
-
Van Camp, G. and Smith, R. J. (2000) Maternally inherited hearing impairment. Clin. Genet. 57, 409-414
-
(2000)
Clin. Genet.
, vol.57
, pp. 409-414
-
-
Van Camp, G.1
Smith, R.J.2
-
38
-
-
0030806576
-
Familial streptomycin ototoxicity in a south african family: A mitochondrial disorder
-
Gardner, J. C., Goliath, R., Viljoen, D., Sellars, S., Cortopassi, G., Hutchin, T., Greenberg, J. and Beighton, P. (1997) Familial streptomycin ototoxicity in a South African family: a mitochondrial disorder. J. Med. Genet. 34, 904-906
-
(1997)
J. Med. Genet.
, vol.34
, pp. 904-906
-
-
Gardner, J.C.1
Goliath, R.2
Viljoen, D.3
Sellars, S.4
Cortopassi, G.5
Hutchin, T.6
Greenberg, J.7
Beighton, P.8
-
39
-
-
0033018278
-
Hearing loss with a mitochondrial gene mutation is highly prevalent in japan
-
Oshima, T., Ueda, N., Ikeda, K., Abe, K. and Takasaka, T. (1999) Hearing loss with a mitochondrial gene mutation is highly prevalent in Japan. Laryngoscope 109, 334-338
-
(1999)
Laryngoscope
, vol.109
, pp. 334-338
-
-
Oshima, T.1
Ueda, N.2
Ikeda, K.3
Abe, K.4
Takasaka, T.5
-
40
-
-
0036822030
-
The a1555g mtdna mutation in danish hearing-impaired patients: Frequency and clinical signs
-
OStergaard, E., Montserrat-Sentis, B., Gronskov, K. and Brondum-Nielsen, K. (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
-
-
Ostergaard, E.1
Montserrat-Sentis, B.2
Gronskov, K.3
Brondum-Nielsen, K.4
-
41
-
-
0029912685
-
Mitochondrial dna mutation at nucleotide 1555 in a patient with bilateral sensorineural hearing loss of unknown etiology
-
Tamagawa, Y., Kitamura, K., Ishida, T., Hagiwara, H., Abe, K. and Nishizawa, M. (1996) Mitochondrial DNA mutation at nucleotide 1555 in a patient with bilateral sensorineural hearing loss of unknown etiology. Acta Otolaryngol. 116, 796-798
-
(1996)
Acta Otolaryngol.
, vol.116
, pp. 796-798
-
-
Tamagawa, Y.1
Kitamura, K.2
Ishida, T.3
Hagiwara, H.4
Abe, K.5
Nishizawa, M.6
-
42
-
-
0031004773
-
Genetic and clinical features of sensorineural hearing loss associated with the a1555g mitochondrial mutation
-
Usami, S., Kasai, A. S., Shinkawa, H., Moeller, B., Shinkawa, H., Moeller, B., Kenyon, J. B. and Kimberling, W. J. (1997) Genetic and clinical features of sensorineural hearing loss associated with the A1555G mitochondrial mutation. Laryngoscope 107, 483-490
-
(1997)
Laryngoscope
, vol.107
, pp. 483-490
-
-
Usami, S.1
Kasai, A.S.2
Shinkawa, H.3
Moeller, B.4
Shinkawa, H.5
Moeller, B.6
Kenyon, J.B.7
Kimberling, W.J.8
-
43
-
-
0034054301
-
Prevalence of mitochondrial gene mutations among hearing impaired patients
-
Usami, S., Abe, S., Akita, J., Namba, A., Shinkawa, H., Ishii, M., Iwasaki, S., Hoshino, T., Ito, J., Doi, K. et al. (2000) Prevalence of mitochondrial gene mutations among hearing impaired patients. J. Med. Genet. 37, 38-40
-
(2000)
J. Med. Genet.
, vol.37
, pp. 38-40
-
-
Usami, S.1
Abe, S.2
Akita, J.3
Namba, A.4
Shinkawa, H.5
Ishii, M.6
Iwasaki, S.7
Hoshino, T.8
Ito, J.9
Doi, K.10
-
44
-
-
3042818885
-
A non-syndromic hearing loss caused by very low levels of the mtdna a3243g mutation
-
Mancuso, M., Filosto, M., Forli, F., Rocchi, A., Berrettini, S., Siciliano, G. and Murri, L. (2004) A non-syndromic hearing loss caused by very low levels of the mtDNA A3243G mutation. Acta Neurol. Scand. 110, 72-74
-
(2004)
Acta Neurol. Scand.
, vol.110
, pp. 72-74
-
-
Mancuso, M.1
Filosto, M.2
Forli, F.3
Rocchi, A.4
Berrettini, S.5
Siciliano, G.6
Murri, L.7
-
45
-
-
0034912385
-
Cochlear implantation in a profoundly deaf patient with melas syndrome
-
Hill, D., Wintersgill, S., Stott, L., Cadge, B. and Graham, J. (2001) Cochlear implantation in a profoundly deaf patient with MELAS syndrome. J. Neurol. Neurosurg. Psychiatry 71, 281
-
(2001)
J. Neurol. Neurosurg. Psychiatry
, vol.71
, pp. 281
-
-
Hill, D.1
Wintersgill, S.2
Stott, L.3
Cadge, B.4
Graham, J.5
-
46
-
-
0036242763
-
Cochlear implantation in maternal inherited diabetes and deafness syndrome
-
Raut, V., Sinnathuray, A. R. and Toner, J. G. (2002) Cochlear implantation in maternal inherited diabetes and deafness syndrome. J. Laryngol. Otol. 116, 373-375
-
(2002)
J. Laryngol. Otol.
, vol.116
, pp. 373-375
-
-
Raut, V.1
Sinnathuray, A.R.2
Toner, J.G.3
-
47
-
-
0032863793
-
Successful cochlear implantation in a patient with melas syndrome
-
Rosenthal, E. L., Kileny, P. R., Boerst, A. and Telian, S. A. (1999) Successful cochlear implantation in a patient with MELAS syndrome. Am. J. Otol. 20, 187-190
-
(1999)
Am. J. Otol.
, vol.20
, pp. 187-190
-
-
Rosenthal, E.L.1
Kileny, P.R.2
Boerst, A.3
Telian, S.A.4
-
48
-
-
0031765087
-
Cochlear implantation in a patient with profound hearing loss with the a1555g mitochondrial mutation
-
Tono, T., Ushisako, Y., Kiyomizu, K., Usami, S., Abe, S., Shinkawa, H. and Komune, S. (1998) Cochlear implantation in a patient with profound hearing loss with the A1555G mitochondrial mutation. Am. J. Otol. 19, 754-757
-
(1998)
Am. J. Otol.
, vol.19
, pp. 754-757
-
-
Tono, T.1
Ushisako, Y.2
Kiyomizu, K.3
Usami, S.4
Abe, S.5
Shinkawa, H.6
Komune, S.7
-
49
-
-
8144221376
-
Phenotype of non-syndromic deafness associated with the mitochondrial a1555g mutation is modulated by mitochondrial rna modifying enzymes mto1 and gtpbp3
-
Bykhovskaya, Y., Mengesha, E., Wang, D., Yang, H., Estivill, X., Shohat, M. and Fischel-Ghodsian, N. (2004) Phenotype of non-syndromic deafness associated with the mitochondrial A1555G mutation is modulated by mitochondrial RNA modifying enzymes MTO1 and GTPBP3. Mol. Genet. Metab. 83, 199-206
-
(2004)
Mol. Genet. Metab.
, vol.83
, pp. 199-206
-
-
Bykhovskaya, Y.1
Mengesha, E.2
Wang, D.3
Yang, H.4
Estivill, X.5
Shohat, M.6
Fischel-Ghodsian, N.7
-
50
-
-
0008835357
-
Mutation a1555g in the 12s rrna gene and its epidemiological importance in german, hungarian, and polish patients
-
Kupka, S., Toth, T., Wrobel, M., Zeissler, U., Szyfter, W., Szyfter, K., Niedzielska, G., Bal, J., Zenner, H. P., Sziklai, I. 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
Zeissler, U.4
Szyfter, W.5
Szyfter, K.6
Niedzielska, G.7
Bal, J.8
Zenner, H.P.9
Sziklai, I.10
-
51
-
-
0142119393
-
Prevalence of the mitochondrial dna a1555g mutation in sensorineural deafness patients in island southeast asia
-
Malik, S. G., Pieter, N., Sudoyo, H., Kadir, A. and Marzuki, S. (2003) Prevalence of the mitochondrial DNA A1555G mutation in sensorineural deafness patients in island Southeast Asia. J. Hum. Genet. 48, 480-483
-
(2003)
J. Hum. Genet.
, vol.48
, pp. 480-483
-
-
Malik, S.G.1
Pieter, N.2
Sudoyo, H.3
Kadir, A.4
Marzuki, S.5
-
52
-
-
0032700610
-
Rapid identification of an a1555g mutation in human mitochondrial dna implicated in aminoglycoside-induced ototoxicity
-
Scrimshaw, B. J., Faed, J. M., Tate, W. P. and Yun, K. (1999) Rapid identification of an A1555G mutation in human mitochondrial DNA implicated in aminoglycoside-induced ototoxicity. J. Hum. Genet. 44, 388-390
-
(1999)
J. Hum. Genet.
, vol.44
, pp. 388-390
-
-
Scrimshaw, B.J.1
Faed, J.M.2
Tate, W.P.3
Yun, K.4
-
53
-
-
0033912290
-
Mutations in the mitochondrial trna ser(ucn) and in the gjb2 (connexin 26) gene are not modifiers of the age at onset or severity of hearing loss in spanish patients with the 12s rrna a1555g mutation
-
Lopez-Bigas, N., Rabionet, R., Martinez, E., Bravo, O., Girons, J., Borragan, A., Pellicer, M., Arbones, M. L. and Estivill, X. (2000) Mutations in the mitochondrial tRNA Ser(UCN) and in the GJB2 (connexin 26) gene are not modifiers of the age at onset or severity of hearing loss in Spanish patients with the 12S rRNA A1555G mutation. Am. J. Hum. Genet. 66, 1465-1467
-
(2000)
Am. J. Hum. Genet.
, vol.66
, pp. 1465-1467
-
-
Lopez-Bigas, N.1
Rabionet, R.2
Martinez, E.3
Bravo, O.4
Girons, J.5
Borragan, A.6
Pellicer, M.7
Arbones, M.L.8
Estivill, X.9
-
54
-
-
0032942192
-
Aminoglycoside induced deafness in a israeli jewish family with a mitochondrial ribosomal rna gene mutation
-
Shohat, M., Fischel-Ghodsian, N., Legum, C. and Halpern, G. J. (1999) Aminoglycoside induced deafness in a Israeli Jewish family with a mitochondrial ribosomal RNA gene mutation. Am. J. Otolaryngol. 20, 64-67
-
(1999)
Am. J. Otolaryngol.
, vol.20
, pp. 64-67
-
-
Shohat, M.1
Fischel-Ghodsian, N.2
Legum, C.3
Halpern, G.J.4
-
55
-
-
0035134021
-
Different clinical characteristics of aminoglycoside-induced profound deafness with and without the 1555 a→g mitochondrial mutation. Orl
-
Tono, T., Kiyomizu, K., Matsuda, K., Komune, S., Usami, S., Abe, S. and Shinkawa, H. (2001) Different clinical characteristics of aminoglycoside-induced profound deafness with and without the 1555 A→G mitochondrial mutation. ORL, J. Otorhinolaryngol. Relat. Spec. 63, 25-30
-
(2001)
J. Otorhinolaryngol. Relat. Spec.
, vol.63
, pp. 25-30
-
-
Tono, T.1
Kiyomizu, K.2
Matsuda, K.3
Komune, S.4
Usami, S.5
Abe, S.6
Shinkawa, H.7
-
56
-
-
0027226069
-
Mitochondrial ribosomal rna mutation associated with both antibiotic-induced and non-syndromic deafness
-
Prezant, T. R., Agapian, J. V., Bohlmann, M. C., Bu, X., Oztas, S., Qiu, W. Q., Arnos, K. S., Cortopassi, G. A., Jaber, L., Rotter, J. I. et al. (1993) Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness. Nat. Gen. 4, 289-294
-
(1993)
Nat. Gen.
, vol.4
, pp. 289-294
-
-
Prezant, T.R.1
Agapian, J.V.2
Bohlmann, 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
-
57
-
-
0027218979
-
A molecular basis for human hypersensitivity to aminoglycoside antibiotics
-
Hutchin, T., Haworth, I., Higashi, K., Fischel-Ghodsian, N., Stoneking, M., Saha, N., Arnos, C. and Cortopassi, G. (1993) A molecular basis for human hypersensitivity to aminoglycoside antibiotics. Nucleic Acids Res. 21, 4174-4179
-
(1993)
Nucleic Acids Res.
, vol.21
, pp. 4174-4179
-
-
Hutchin, T.1
Haworth, I.2
Higashi, K.3
Fischel-Ghodsian, N.4
Stoneking, M.5
Saha, N.6
Arnos, C.7
Cortopassi, G.8
-
58
-
-
0842277862
-
Audiovestibular findings in patients with mitochondrial a1555g mutation
-
Noguchi, Y., Yashima, T., Ito, T., Sumi, T., Tsuzuku, T. and Kitamura, K. (2004) Audiovestibular findings in patients with mitochondrial A1555G mutation. Laryngoscope 114, 344-348
-
(2004)
Laryngoscope
, vol.114
, pp. 344-348
-
-
Noguchi, Y.1
Yashima, T.2
Ito, T.3
Sumi, T.4
Tsuzuku, T.5
Kitamura, K.6
-
59
-
-
2942592233
-
Deafness due to a1555g mitochondrial mutation without use of aminoglycoside
-
Matsunaga, T., Kumanomido, H., Shiroma, M., Ohtsuka, A., Asamura, K. and Usami, S. (2004) Deafness due to A1555G mitochondrial mutation without use of aminoglycoside. Laryngoscope 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
-
60
-
-
6344223665
-
The molecular dissection of mtdna haplogroup h confirms that the franco-cantabrian glacial refuge was a major source for the european gene pool
-
Achilli, A., Rengo, C., Magri, C., Battaglia, V., Olivieri, A., Scozzari, R., Cruciani, F., Zeviani, M., Briem, E., Carelli, V. et al. (2004) The molecular dissection of mtDNA haplogroup H confirms that the Franco-Cantabrian glacial refuge was a major source for the European gene pool. Am. J. Hum. Genet. 75, 910-918
-
(2004)
Am. J. Hum. Genet.
, vol.75
, pp. 910-918
-
-
Achilli, A.1
Rengo, C.2
Magri, C.3
Battaglia, V.4
Olivieri, A.5
Scozzari, R.6
Cruciani, F.7
Zeviani, M.8
Briem, E.9
Carelli, V.10
-
61
-
-
0033361927
-
The a1555g mutation in the 12s rrna gene of human mtdna: Recurrent origins and founder events in families affected by sensorineural deafness
-
Torroni, A., Cruciani, F., Sellitto, D., Lopez-Bigas, Rabionet, R., Govea, N., Lopez De Munain, A., Sarduy, M., Romero, L., Villamar, M. et al. (1999) The A1555G mutation in the 12S rRNA gene of human mtDNA: recurrent origins and founder events in families affected by sensorineural deafness. Am. J. Hum. Genet. 65, 1349-1358
-
(1999)
Am. J. Hum. Genet.
, vol.65
, pp. 1349-1358
-
-
Torroni, A.1
Cruciani, F.2
Sellitto, D.3
Lopez-Bigas Rabionet, R.4
Govea, N.5
Lopez De Munain, A.6
Sarduy, M.7
Romero, L.8
Villamar, M.9
-
62
-
-
0033858002
-
A biochemical basis for the inherited susceptibility to aminoglycoside ototoxicity
-
Guan, M. X., Fischel-Ghodsian, N. and 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
-
63
-
-
0035869153
-
Nuclear background determines biochemical phenotype in the deafness-associated mitochondrial 12s rrna mutation
-
Guan, M. X., Fischel-Ghodsian, N. and Attardi, G. (2001) Nuclear background determines biochemical phenotype in the deafness-associated mitochondrial 12S rRNA mutation. Hum. Mol. Genet. 10, 573-580
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 573-580
-
-
Guan, M.X.1
Fischel-Ghodsian, N.2
Attardi, G.3
-
64
-
-
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., Hang, T., Tun, R. Y., Estivill, X., Casano, R. A., Majamaa, K., Shohat, M. and Fischel-Ghodsian, N. (2001) Modifier locus for mitochondrial DNA disease: linkage and linkage disequilibrium mapping of a nuclear modifier gene for maternally inherited deafness. Genet. Med. 3, 177-180
-
(2001)
Genet. Med.
, vol.3
, pp. 177-180
-
-
Bykhovskaya, Y.1
Yang, H.2
Taylor, K.3
Hang, T.4
Tun, R.Y.5
Estivill, X.6
Casano, R.A.7
Majamaa, K.8
Shohat, M.9
Fischel-Ghodsian, N.10
-
65
-
-
1942425120
-
Human mitochondrial transcription factor b1 as a modifier gene for hearing loss associated with the mitochondrial a1555g mutation
-
Bykhovskaya, Y., Mengesha, E., Wang, D., Yang, H., Estivill, X., Shohat, M. and Fischel-Ghodsian, N. (2004) Human mitochondrial transcription factor B1 as a modifier gene for hearing loss associated with the mitochondrial A1555G mutation. Mol. Genet. Metab. 82, 27-32
-
(2004)
Mol. Genet. Metab.
, vol.82
, pp. 27-32
-
-
Bykhovskaya, Y.1
Mengesha, E.2
Wang, D.3
Yang, H.4
Estivill, X.5
Shohat, M.6
Fischel-Ghodsian, N.7
-
66
-
-
0036265087
-
Atypical muscle pathology and a survey of cis-mutations in deaf patients harboring a 1555 a-to-g point mutation in the mitochondrial ribosomal rna gene
-
Yamasoba, T., Goto, Y., Oka, Y., Nishino, I., Tsukuda, K. and Nonaka, I. (2002) Atypical muscle pathology and a survey of cis-mutations in deaf patients harboring a 1555 A-to-G point mutation in the mitochondrial ribosomal RNA gene. Neuromuscular Disord. 12, 506-512
-
(2002)
Neuromuscular Disord.
, vol.12
, pp. 506-512
-
-
Yamasoba, T.1
Goto, Y.2
Oka, Y.3
Nishino, I.4
Tsukuda, K.5
Nonaka, I.6
-
67
-
-
0034056709
-
Myelocystocele-cloacal exstrophy in a pedigree with a mitochondrial 12s rrna mutation, amynoglicoside induced deafness, pigmentary disturbances and spinal anomalies
-
Nye, J. S., Hayes, E. A., Amendola, M., Vaughn, D., Charrow, J., McLone, D. G., Speer, M. C., Nance, W. E. and Pandya, A. (2000) Myelocystocele-cloacal exstrophy in a pedigree with a mitochondrial 12S rRNA mutation, amynoglicoside induced deafness, pigmentary disturbances and spinal anomalies. Teratology 61, 165-171
-
(2000)
Teratology
, vol.61
, pp. 165-171
-
-
Nye, J.S.1
Hayes, E.A.2
Amendola, M.3
Vaughn, D.4
Charrow, J.5
McLone, D.G.6
Speer, M.C.7
Nance, W.E.8
Pandya, A.9
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