-
1
-
-
0029850284
-
N-methyl-D-aspartate antagonists limit aminoglycoside antibiotic-induced hearing loss
-
Basile AS, Huang A-M, Xie C, Webster D, Berlin C, Skolnick P (1996) N-methyl-D-aspartate antagonists limit aminoglycoside antibiotic-induced hearing loss. Nat Med 2: 1338-1343
-
(1996)
Nat Med
, vol.2
, pp. 1338-1343
-
-
Basile, A.S.1
Huang, A.-M.2
Xie, C.3
Webster, D.4
Berlin, C.5
Skolnick, P.6
-
2
-
-
0026878927
-
Isolation of a candidate gene for Norrie disease by positional cloning
-
Berger W, Meindl A, van de Pol TJ, Cremers FP, Ropers HH, Dörner C, Monaco A, et al (1992) Isolation of a candidate gene for Norrie disease by positional cloning. Nat Genet 1: 199-203
-
(1992)
Nat Genet
, vol.1
, pp. 199-203
-
-
Berger, W.1
Meindl, A.2
Van De Pol, T.J.3
Cremers, F.P.4
Ropers, H.H.5
Dörner, C.6
Monaco, A.7
-
3
-
-
0014540466
-
Genetic and environmental factors in profound prelingual deafness
-
Brown KS (1969) Genetic and environmental factors in profound prelingual deafness. Med Clin North Am 53:741-772
-
(1969)
Med Clin North Am
, vol.53
, pp. 741-772
-
-
Brown, K.S.1
-
4
-
-
0029075655
-
Analysis of mtDNA variation in African populations reveals the most ancient of all human continent-specific haplogroups
-
Chen Y-S, Torroni A, Excoffier L, Santachiara-Benerecetti AS, Wallace DC (1995) Analysis of mtDNA variation in African populations reveals the most ancient of all human continent-specific haplogroups. Am J Hum Genet 57:133-149
-
(1995)
Am J Hum Genet
, vol.57
, pp. 133-149
-
-
Chen, Y.-S.1
Torroni, A.2
Excoffier, L.3
Santachiara-Benerecetti, A.S.4
Wallace, D.C.5
-
5
-
-
0001639812
-
Epidemiology, etiology and genetic patterns
-
Gorlin RJ, Toriello HV, Cohen MM Jr (eds) Oxford University Press, Oxford
-
Cohen MM Jr, Gorlin RJ (1995) Epidemiology, etiology and genetic patterns. In: Gorlin RJ, Toriello HV, Cohen MM Jr (eds) Hereditary hearing loss and its syndromes. Oxford University Press, Oxford, pp 9-21
-
(1995)
Hereditary Hearing Loss and Its Syndromes
, pp. 9-21
-
-
Cohen Jr., M.M.1
Gorlin, R.J.2
-
6
-
-
0028988233
-
Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4
-
de Kok YJM, van der Maarel SM, Bitner-Glindzicz M, Huber I, Monaco AP, Malcolm S, Pembrey ME, et al (1995) Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4. Science 267:685-688
-
(1995)
Science
, vol.267
, pp. 685-688
-
-
De Kok, Y.J.M.1
Van Der Maarel, S.M.2
Bitner-Glindzicz, M.3
Huber, I.4
Monaco, A.P.5
Malcolm, S.6
Pembrey, M.E.7
-
7
-
-
0343852695
-
Two large Spanish pedigrees with non-syndromic sensorineural deafness and the mtDNA mutation at nt 1555 in the 12S rRNA gene: Evidence of heteroplasmy
-
El-Schahawi M, López de Munain A, Sarrazin AM, Shanske AL, Basirico M, Shanske S, DiMauro S (1997) Two large Spanish pedigrees with non-syndromic sensorineural deafness and the mtDNA mutation at nt 1555 in the 12S rRNA gene: evidence of heteroplasmy. Neurology 48:453-456
-
(1997)
Neurology
, vol.48
, pp. 453-456
-
-
El-Schahawi, M.1
López De Munain, A.2
Sarrazin, A.M.3
Shanske, A.L.4
Basirico, M.5
Shanske, S.6
DiMauro, S.7
-
8
-
-
0027515721
-
Mitochondrial ribosomal RNA gene mutation in a patient with sporadic aminoglycoside ototoxicity
-
Fischel-Ghodsian N, Prezant TR, Bu X, Oztas S (1993) Mitochondrial ribosomal RNA gene mutation in a patient with sporadic aminoglycoside ototoxicity. Am J Otolaryngol 14: 399-403
-
(1993)
Am J Otolaryngol
, vol.14
, pp. 399-403
-
-
Fischel-Ghodsian, N.1
Prezant, T.R.2
Bu, X.3
Oztas, S.4
-
9
-
-
0030974247
-
Mitochondrial gene mutation is a significant predisposing factor in aminoglycoside ototoxicity
-
Fischel-Ghodsian N, Prezant TR, Chaltraw WE, Wendt KA, Nelson RA, Arnos KS, Falk RE (1997) Mitochondrial gene mutation is a significant predisposing factor in aminoglycoside ototoxicity. Am J Otolaryngol 18:173-178
-
(1997)
Am J Otolaryngol
, vol.18
, pp. 173-178
-
-
Fischel-Ghodsian, N.1
Prezant, T.R.2
Chaltraw, W.E.3
Wendt, K.A.4
Nelson, R.A.5
Arnos, K.S.6
Falk, R.E.7
-
10
-
-
0001681514
-
Genetic hearing loss with no associated abnormalities
-
Gorlin RJ, Toriello HV, Cohen MM Jr (eds) Oxford University Press, Oxford
-
Gorlin RJ (1995) Genetic hearing loss with no associated abnormalities. In: Gorlin RJ, Toriello HV, Cohen MM Jr (eds) Hereditary hearing loss and its syndromes. Oxford University Press, Oxford, pp 43-61
-
(1995)
Hereditary Hearing Loss and Its Syndromes
, pp. 43-61
-
-
Gorlin, R.J.1
-
11
-
-
0028306509
-
A human gene responsible for neurosensory, non-syndromic recessive deafness is a candidate homologue of the mouse sh-1 gene
-
Guilford P, Ayadi H, Blanchard S, Chaib H, Le Paslier D, Weissenbach J, Drira M, et al (1994) A human gene responsible for neurosensory, non-syndromic recessive deafness is a candidate homologue of the mouse sh-1 gene. Hum Mol Genet 3:989-393
-
(1994)
Hum Mol Genet
, vol.3
, pp. 989-1393
-
-
Guilford, P.1
Ayadi, H.2
Blanchard, S.3
Chaib, H.4
Le Paslier, D.5
Weissenbach, J.6
Drira, M.7
-
12
-
-
0000096735
-
Drug ototoxicity
-
Keidel WD, Neff WD (eds) Springer, Berlin
-
Hawkins JE (1976) Drug ototoxicity. In: Keidel WD, Neff WD (eds) Handbook of sensory physiology. Springer, Berlin, pp 707-748
-
(1976)
Handbook of Sensory Physiology
, pp. 707-748
-
-
Hawkins, J.E.1
-
13
-
-
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, et al (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
-
14
-
-
0031007349
-
Connexin 26 mutations in hereditary non-syndromic sensorineural deafness
-
Kelsell DP, Dunlop J, Stevens HP, Lench NJ, Liang JN, Parry G, Mueller RF, et al (1997) Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. Nature 387: 80-83
-
(1997)
Nature
, vol.387
, pp. 80-83
-
-
Kelsell, D.P.1
Dunlop, J.2
Stevens, H.P.3
Lench, N.J.4
Liang, J.N.5
Parry, G.6
Mueller, R.F.7
-
15
-
-
0242338200
-
Hereditary deafness in man
-
Konigsmark BW (1969) Hereditary deafness in man. N Engl J Med 281:713-720
-
(1969)
N Engl J Med
, vol.281
, pp. 713-720
-
-
Konigsmark, B.W.1
-
16
-
-
0030960855
-
Mutations in the myosin VIIA gene cause non-syndromic recessive deafness
-
Liu X-Z, Walsh J, Mburu P, Kendrick-Jones J, Cope MJTV, Steel KP, Brown SDM (1997) Mutations in the myosin VIIA gene cause non-syndromic recessive deafness. Nat Genet 16: 188-190
-
(1997)
Nat Genet
, vol.16
, pp. 188-190
-
-
Liu, X.-Z.1
Walsh, J.2
Mburu, P.3
Kendrick-Jones, J.4
Cope, M.J.T.V.5
Steel, K.P.6
Brown, S.D.M.7
-
17
-
-
0029916599
-
Non-syndromic deafness associated with a mutation and a polymorphism in the mitochondrial 12S ribosomal RNA gene in a large Zairean pedigree
-
Matthijs G, Claes S, Longo-Mbenza B, Cassiman J-J (1996) Non-syndromic deafness associated with a mutation and a polymorphism in the mitochondrial 12S ribosomal RNA gene in a large Zairean pedigree. Eur J Hum Genet 4:46-51
-
(1996)
Eur J Hum Genet
, vol.4
, pp. 46-51
-
-
Matthijs, G.1
Claes, S.2
Longo-Mbenza, B.3
Cassiman, J.-J.4
-
18
-
-
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
-
19
-
-
0027494118
-
Hearing loss
-
Nadol JB Jr (1993) Hearing loss. N Engl J Med 329: 1092-1102
-
(1993)
N Engl J Med
, vol.329
, pp. 1092-1102
-
-
Nadol Jr., J.B.1
-
20
-
-
0016468061
-
Symposium on sensorineural hearing loss in children: Early detection and intervention: genetic factors in deafness in early life
-
Nance WE, Sweeney A (1975) Symposium on sensorineural hearing loss in children: early detection and intervention: genetic factors in deafness in early life. Otolaryngol Clin North Am 8:19-18
-
(1975)
Otolaryngol Clin North Am
, vol.8
, pp. 19-118
-
-
Nance, W.E.1
Sweeney, A.2
-
21
-
-
0031055387
-
Mutation in the mitochondrial 12S rRNA gene in two families from Mongolia with matrilineal aminoglycoside ototoxicity
-
Pandya A, Xia X, Radnaabazar J, Batsuuri J, Dangaansuren B, Fischel-Ghodsian N, Nance WE (1997) Mutation in the mitochondrial 12S rRNA gene in two families from Mongolia with matrilineal aminoglycoside ototoxicity. J Med Genet 34:169-172
-
(1997)
J Med Genet
, vol.34
, pp. 169-172
-
-
Pandya, A.1
Xia, X.2
Radnaabazar, J.3
Batsuuri, J.4
Dangaansuren, B.5
Fischel-Ghodsian, N.6
Nance, W.E.7
-
22
-
-
0029807805
-
Genes responsible for human hereditary deafness: Symphony of a thousand
-
Petit C (1996) Genes responsible for human hereditary deafness: symphony of a thousand. Nat Genet 14:385-390
-
(1996)
Nat Genet
, vol.14
, pp. 385-390
-
-
Petit, C.1
-
23
-
-
0027226069
-
Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness
-
Prezant TR, Agapian JV, Bohlman MC, Bohlman MC, Bu X, Öztas S, Qiu W-Q, 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
Bohlman, M.C.3
Bohlman, M.C.4
Bu, X.5
Öztas, S.6
Qiu, W.-Q.7
-
24
-
-
0028288558
-
A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness
-
Reid FM, Vernham GA, Jacobs HT (1994) A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness. Hum Mutat 3:243-247
-
(1994)
Hum Mutat
, vol.3
, pp. 243-247
-
-
Reid, F.M.1
Vernham, G.A.2
Jacobs, H.T.3
-
26
-
-
0004135761
-
Phylogenetic analysis using parsimony (PAUP), version 3.1.1
-
Champaign
-
Swofford D (1993) Phylogenetic analysis using parsimony (PAUP), version 3.1.1. Illinois Natural History Survey, Champaign
-
(1993)
Illinois Natural History Survey
-
-
Swofford, D.1
-
27
-
-
0027943189
-
Waardenburg's syndrome type 2 caused by mutations in the human microphtalmia (MITF) gene
-
Tassabehji M, Newton VE, Read AP (1994) Waardenburg's syndrome type 2 caused by mutations in the human microphtalmia (MITF) gene. Nat Genet 8:251-255
-
(1994)
Nat Genet
, vol.8
, pp. 251-255
-
-
Tassabehji, M.1
Newton, V.E.2
Read, A.P.3
-
28
-
-
0026602124
-
Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene
-
Tassabehji M, Read AP, Newton VE, Harris R, Balling R, Gruss P, Strachan T (1992) Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene. Nature 355:635-636
-
(1992)
Nature
, vol.355
, pp. 635-636
-
-
Tassabehji, M.1
Read, A.P.2
Newton, V.E.3
Harris, R.4
Balling, R.5
Gruss, P.6
Strachan, T.7
-
29
-
-
0029119782
-
Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNASer(UCN) gene
-
Tiranti V, Chariot P, Carella F, Toscano A, Soliveri P, Girlanda P, Carrara F, et al (1995) Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNASer(UCN) gene. Hum Mol Genet 4:1421-1427
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1421-1427
-
-
Tiranti, V.1
Chariot, P.2
Carella, F.3
Toscano, A.4
Soliveri, P.5
Girlanda, P.6
Carrara, F.7
-
30
-
-
0030468182
-
Classification of European mtDNAs from an analysis of three European populations
-
Torroni A, Huoponen K, Francalacci P, Petrozzi M, Morelli L, Scozzari R, Obinu D, et al (1996) Classification of European mtDNAs from an analysis of three European populations. Genetics 144:1835-1850
-
(1996)
Genetics
, vol.144
, pp. 1835-1850
-
-
Torroni, A.1
Huoponen, K.2
Francalacci, P.3
Petrozzi, M.4
Morelli, L.5
Scozzari, R.6
Obinu, D.7
-
31
-
-
0028095263
-
mtDNA and the origin of Caucasians: Identification of ancient Caucasian-specific haplogroups, one of which is prone to a recurrent somatic duplication in the D-loop region
-
Torroni A, Lott MT, Cabell MF, Chen Y-S, Lavergne L, Wallace DC (1994) mtDNA and the origin of Caucasians: identification of ancient Caucasian-specific haplogroups, one of which is prone to a recurrent somatic duplication in the D-loop region. Am J Hum Genet 55:760-776
-
(1994)
Am J Hum Genet
, vol.55
, pp. 760-776
-
-
Torroni, A.1
Lott, M.T.2
Cabell, M.F.3
Chen, Y.-S.4
Lavergne, L.5
Wallace, D.C.6
-
32
-
-
16944363113
-
Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484
-
Torroni A, Petrozzi M, D'Urbano L, Sellitto D, Zeviani M, Carrara F, Carducci C, et al (1997) Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484. Am J Hum Genet 60: 1107-1121
-
(1997)
Am J Hum Genet
, vol.60
, pp. 1107-1121
-
-
Torroni, A.1
Petrozzi, M.2
D'Urbano, L.3
Sellitto, D.4
Zeviani, M.5
Carrara, F.6
Carducci, C.7
-
33
-
-
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 (1997) Genetic and clinical features of sensorineural hearing loss associated with the 1555 mitochondrial mutation. Laryngoscope 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
-
34
-
-
0030946546
-
Nonsyndromic hearing impairment: Unparalleled heterogeneity
-
Van Camp G, Willems PJ, Smith RJH (1997) Nonsyndromic hearing impairment: unparalleled heterogeneity. Am J Hum Genet 60:758-764
-
(1997)
Am J Hum Genet
, vol.60
, pp. 758-764
-
-
Van Camp, G.1
Willems, P.J.2
Smith, R.J.H.3
-
35
-
-
0028815440
-
Defective myosin VIIA gene responsible for Usher syndrome type 1B
-
Weil D, Blanchard S, Kaplan J, Guilford P, Gibson F, Walsh J, Mburu P (1995) Defective myosin VIIA gene responsible for Usher syndrome type 1B. Nature 374:60-61
-
(1995)
Nature
, vol.374
, pp. 60-61
-
-
Weil, D.1
Blanchard, S.2
Kaplan, J.3
Guilford, P.4
Gibson, F.5
Walsh, J.6
Mburu, P.7
-
36
-
-
0030951102
-
The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene
-
Weil D, Küssel P, Blanchard S, Lévy G, Levi-Acobas F, Drira M, Ayadi H, et al (1997) The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene. Nat Genet 16:191-193
-
(1997)
Nat Genet
, vol.16
, pp. 191-193
-
-
Weil, D.1
Küssel, P.2
Blanchard, S.3
Lévy, G.4
Levi-Acobas, F.5
Drira, M.6
Ayadi, H.7
-
37
-
-
9844245885
-
Connexin 26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans
-
Zelante L, Gasparini P, Estivill X, Melchionda S, D'Agruma L, Govea N, Milà M, et al (1997) Connexin 26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans. Hum Mol Genet 6:1605-1609
-
(1997)
Hum Mol Genet
, vol.6
, pp. 1605-1609
-
-
Zelante, L.1
Gasparini, P.2
Estivill, X.3
Melchionda, S.4
D'Agruma, L.5
Govea, N.6
Milà, M.7
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