-
1
-
-
0001796761
-
Ein Fall von Taub-stummheit mil Acusticusatrophie und Bildungsanomalien im hauligen Labyrinth beidcrscits (A case of congenital deafness and atrophy of the acoustic nerve and anomalous formation of the labyrinthine sensory epithelia)
-
Scheibe A: Ein Fall von Taub-stummheit mil Acusticusatrophie und Bildungsanomalien im hauligen Labyrinth beidcrscits (A case of congenital deafness and atrophy of the acoustic nerve and anomalous formation of the labyrinthine sensory epithelia). Z Ohrenhcilkd 1892:22: 11-24.
-
(1892)
Z Ohrenhcilkd
, vol.22
, pp. 11-24
-
-
Scheibe, A.1
-
2
-
-
0005951279
-
Bildungsanomalien im hauligen Labyrinth bei Taub-stummheit (Anomalous formation of the labyrinthine sensory epithelia in congenital deafness)
-
Scheibe A: Bildungsanomalien im hauligen Labyrinth bei Taub-stummheit (Anomalous formation of the labyrinthine sensory epithelia in congenital deafness). Z Ohrenhcilkd 1895;27:95-99.
-
(1895)
Z Ohrenhcilkd
, vol.27
, pp. 95-99
-
-
Scheibe, A.1
-
3
-
-
0001328480
-
The pathology of congenital deafness
-
Ormerod FC: The pathology of congenital deafness. J Larvngol Otol 1960:74:919-950.
-
(1960)
J Larvngol Otol
, vol.74
, pp. 919-950
-
-
Ormerod, F.C.1
-
5
-
-
0019066890
-
Pathology of congenital deafness: Present status and future priorities
-
Bergstrom La VB: Pathology of congenital deafness: Present status and future priorities. Ann Otol Rhinol Larvngol 1980:89(suppl 74):31-42.
-
(1980)
Ann Otol Rhinol Larvngol
, vol.89
, Issue.74
, pp. 31-42
-
-
Bergstrom La, V.B.1
-
7
-
-
0021239944
-
Concomitant occurrence of cochlcosac-cular dysplasia and Down’s syndrome
-
Walby AP. Schuknccht HF: Concomitant occurrence of cochlcosac-cular dysplasia and Down’s syndrome. Arch Otolaryngol 1984:110: 477-479.
-
(1984)
Arch Otolaryngol
, vol.110
, pp. 477-479
-
-
Walby, A.P.1
Schuknccht, H.F.2
-
8
-
-
0014348062
-
Pathology of the car in the cardio-auditory syndrome of Jervell and Langc-Nielscn. Report of a third case with an appendix on possible linkage with the Rh blood locus
-
Friedmann I, Fraser GR, Froggatt P: Pathology of the car in the cardio-auditory syndrome of Jervell and Langc-Nielscn. Report of a third case with an appendix on possible linkage with the Rh blood locus. J Laryngol Otol 1968:82:883-896.
-
(1968)
J Laryngol Otol
, vol.82
, pp. 883-896
-
-
Friedmann, I.1
Fraser, G.R.2
Froggatt, P.3
-
9
-
-
0014803833
-
Temporal bone findings in trisomy 18 syndrome
-
Sando I, Bergstrom LV, Wood RP., II, Hcmcnway WG: Temporal bone findings in trisomy 18 syndrome. Arch Otolarvng 1970:91:552-559.
-
(1970)
Arch Otolarvng
, vol.91
, pp. 552-559
-
-
Sando, I.1
Bergstrom, L.V.2
Wood, R.P.3
Hcmcnway, W.G.4
-
10
-
-
0019919811
-
Cochleosaccu lar degeneration of the inner car and progressive cataracts inherited as an autosomal dominant trait
-
Nadol JB, Burgess B: Cochleosaccu lar degeneration of the inner car and progressive cataracts inherited as an autosomal dominant trait. Laryngoscope 1982;92:1028-1037.
-
(1982)
Laryngoscope
, vol.92
, pp. 1028-1037
-
-
Nadol, J.B.1
Burgess, B.2
-
11
-
-
0026718598
-
Temporal bone findings in keratitis, ichthyosis, and deafness syndrome
-
Tsuzuku T, Kaga K, Kanematsu S, Shibata A, Olidc S: Temporal bone findings in keratitis, ichthyosis, and deafness syndrome. Ann O'.ol Rhinol Laryngol 1992;101:413-416.
-
(1992)
Ann O'.Ol Rhinol Laryngol
, vol.101
, pp. 413-416
-
-
Tsuzuku, T.1
Kaga, K.2
Kanematsu, S.3
Shibata, A.4
Olidc, S.5
-
12
-
-
0015871215
-
Hereditary deafness in the white cat
-
Mail' IWS: Hereditary deafness in the white cat. Acta Oto-Laryngol (suppl) 1973:314:1-48.
-
(1973)
Acta Oto-Laryngol (Suppl)
, vol.314
, pp. 1-48
-
-
Mail', I.1
-
13
-
-
0020959651
-
Cochlear dysfunction in the Jerkcr mouse
-
Steel KP. Bock GR: Cochlear dysfunction in the Jerkcr mouse. Behav Neurosci 1983:97:381-391.
-
(1983)
Behav Neurosci
, vol.97
, pp. 381-391
-
-
Steel, K.P.1
Bock, G.R.2
-
14
-
-
0020594546
-
Hereditary inner ear abnormalities in animals. Relationships with human abnormalities
-
Steel KP. Bock GR: Hereditary inner ear abnormalities in animals. Relationships with human abnormalities. Arch Otolaryngol 1983: 109:22-29.
-
(1983)
Arch Otolaryngol
, vol.109
, pp. 22-29
-
-
Steel, K.P.1
Bock, G.R.2
-
15
-
-
0026584439
-
An cxonic mutation in the Hup2 paired domain gene causes Waardcnburg’s syndrome
-
Baldwin CT, Hoth CF. Amos JA, da-Silva EO, Milunsky A: An cxonic mutation in the Hup2 paired domain gene causes Waardcnburg’s syndrome. Nature 1992:355:637-638.
-
(1992)
Nature
, vol.355
, pp. 637-638
-
-
Baldwin, C.T.1
Hoth, C.F.2
Amos, J.A.3
Da-Silva, E.O.4
Milunsky, A.5
-
16
-
-
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: Waardenburg’s syndrome patients have mutations in the human homologue of the Pax-3 paired box gene. Nature 1992:355: 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
-
17
-
-
0028854798
-
Further elucidation of the genomic structure of PAX3 and identification of two difierent point mutations in the homeobox of PAX3 gene causing type I Waardcnburg syndrome
-
Lalwani AK, Pioplis B, Fex I, Grundfast KM, Wilcox ER: Further elucidation of the genomic structure of PAX3 and identification of two difierent point mutations in the homeobox of PAX3 gene causing type I Waardcnburg syndrome. Am J Hum Genet 1995:56:75-83.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 75-83
-
-
Lalwani, A.K.1
Pioplis, B.2
Fex, I.3
Grundfast, K.M.4
Wilcox, E.R.5
-
19
-
-
0028101878
-
Linkage of autosomal dominant hearing loss of the short arm of chromosome 1 in two families
-
Coucke P, Van Camp G, Djoyodi-harjo B: Linkage of autosomal dominant hearing loss of the short arm of chromosome 1 in two families. N Engl J Med 1994:331:425-431.
-
(1994)
N Engl J Med
, vol.331
, pp. 425-431
-
-
Coucke, P.1
Van Camp, G.2
Djoyodi-Harjo, B.3
-
20
-
-
0028555358
-
A gene responsible for a dominant form of neurosensory non-syn-dromic deafness maps to the NSRD1 recessive deafness gene interval
-
Chaib H. Linagranade G. Guilford P: A gene responsible for a dominant form of neurosensory non-syn-dromic deafness maps to the NSRD1 recessive deafness gene interval. Hum Mol Genet 1994:3: 2219-2222.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 2219-2222
-
-
Chaib, H.1
Linagranade, G.2
Guilford, P.3
-
21
-
-
0029031729
-
Linkage of a gene for dominant non-svndromic deafness to chromosome 19
-
Chen AH. Ni L. Fukushima K, Marietta J. O’Neill M. Coucke P, Willems P. Smith RJH: Linkage of a gene for dominant non-svndromic deafness to chromosome 19. Hum Mol Genet 1995;4:1073-1076.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1073-1076
-
-
Chen, A.H.1
Ni, L.2
Fukushima, K.3
Marietta, J.4
O’neill, M.5
Coucke, P.6
Willems, P.7
Smith, R.8
-
22
-
-
0028803173
-
Localization of a locus for non-syn-dromic hearing loss (DFNA5) to chromosome 7p
-
Van Camp G, Coucke P, Balemans W, Van Velzen D, Van dcr Bilt C, Smith RJH, Fukushima K, Padberg G, Frants RR, Van de Heyning P, Smith SD, Huizing EH, Willems PJ: Localization of a locus for non-syn-dromic hearing loss (DFNA5) to chromosome 7p. Hum Mol Genet 1995:4:2159-2163.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 2159-2163
-
-
Van Camp, G.1
Coucke, P.2
Balemans, W.3
Van Velzen, D.4
Van Dcr Bilt, C.5
Smith, R.6
Fukushima, K.7
Padberg, G.8
Frants, R.R.9
Van De Heyning, P.10
Smith, S.D.11
Huizing, E.H.12
Willems, P.J.13
-
23
-
-
0028892097
-
A gene for autosomal dominant nonsyndromic hereditary hearing impairment maps to 4pl6.3
-
Lesperancc MM. Hall JW. Bess FH. Fukushima K. Jain PK. Ploplis B. San Agustin TB. Skarka H. Smith RJH. Wills M. Wilcox E: A gene for autosomal dominant nonsyndromic hereditary hearing impairment maps to 4pl6.3. Hum Mol Genet 1995:4:1967-1972.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1967-1972
-
-
Lesperancc, M.M.1
Hall, J.W.2
Bess, F.H.3
Fukushima, K.4
Jain, P.K.5
Ploplis, B.6
San Agustin, T.B.7
Skarka, H.8
Smith, R.J.H.9
Wills, M.10
Wilcox, E.11
-
24
-
-
1842290279
-
Genetic mapping of autosomal dominant deafness genes in 3 Norwegian families
-
Bethesda. October
-
Tranebjaerg L. Mourn T, Nilssen O, Brox V. Fagerheim T. Elvcrland MIL Solem B, Tcig E. Omland II. Fostad G: Genetic mapping of autosomal dominant deafness genes in 3 Norwegian families. Mol Biol Hearing Deafness. Bethesda. October. 1995.
-
(1995)
Mol Biol Hearing Deafness
-
-
Tranebjaerg, L.1
Mourn, T.2
Nilssen, O.3
Brox, V.4
Fagerheim, T.5
Elvcrland Mil Solem, B.6
Tcig, E.7
Omland, I.I.8
Fostad, G.9
-
25
-
-
85025572351
-
-
Mo! Biol Hearing Deafness. Bethesda, October
-
Kirshhofcr K. Hoover DM. Kenyon JB. Franz P. Wcipolthammer K. Wachtler F. Kimberling WJ: Localisation of a gene responsible for an autosomal dominant non-syn-dromic sensorineural hearing loss to chromosome 15. Mo! Biol Hearing Deafness. Bethesda, October. 1995.
-
(1995)
Localisation of a Gene Responsible for an Autosomal Dominant Non-Syn-Dromic Sensorineural Hearing Loss to Chromosome
, vol.15
-
-
Kirshhofcr, K.1
Hoover, D.M.2
Kenyon, J.B.3
Franz, P.4
Wcipolthammer, K.5
Wachtler, F.6
Kimberling, W.J.7
-
26
-
-
0022792421
-
Estimating the power of a proposed linkage study: A practical computer simulation approach
-
Boehnke M: Estimating the power of a proposed linkage study: A practical computer simulation approach. Am J Hum Genet 1986:39:513-527.
-
(1986)
Am J Hum Genet
, vol.39
, pp. 513-527
-
-
Boehnke, M.1
-
28
-
-
0014535660
-
The endo-coehlear potential in the shaker-1 (Sh-l/sh-1) mouse
-
Brown PG. Ruben RJ: The endo-coehlear potential in the shaker-1 (sh-l/sh-1) mouse. Acta Otolaryngol 1969:68:14-20.26.
-
(1969)
Acta Otolaryngol
, vol.68
-
-
Brown, P.G.1
Ruben, R.J.2
-
29
-
-
0023186403
-
Strial dysfunction in mice with cochleo-saccular abnormalities
-
Steel KP. Barkway C. Bock GR: Strial dysfunction in mice with cochleo-saccular abnormalities. Hear Res 1987:27:11-26.
-
(1987)
Hear Res
, vol.27
, pp. 11-26
-
-
Steel, K.P.1
Barkway, C.2
Bock, G.R.3
-
31
-
-
1842333192
-
Effect of profound deafness on cell size in the human central auditory system
-
Moore JK, Miller MR, Niparko JK, Wu BJ-C, Linthicum FH: Effect of profound deafness on cell size in the human central auditory system. Assoc Res Otolaryngol Abstr 1994:17: 144.
-
(1994)
Assoc Res Otolaryngol Abstr
, vol.17
, pp. 144
-
-
Moore, J.K.1
Miller, M.R.2
Niparko, J.K.3
Wu, B.-C.4
Linthicum, F.H.5
-
32
-
-
0019820256
-
Correlated studies of the ear and brainstem in the deaf white cat: Changes in the spiral ganglion and the medial superior olivary nucleus
-
Schwartz IR. Iliga JF: Correlated studies of the ear and brainstem in the deaf white cat: Changes in the spiral ganglion and the medial superior olivary nucleus. Acta Otolaryngol 93:9-18.
-
Acta Otolaryngol
, vol.93
, pp. 9-18
-
-
Schwartz, I.R.1
Iliga, J.F.2
-
36
-
-
0027180952
-
Genetic epidemiologic studies of carly-onsct deafness in the United Stales school age population
-
Maraita ML, Ploughman LM, Rawlings R, Remington E, Amos KS, Nance WE: Genetic epidemiologic studies of carly-onsct deafness in the United Stales school age population. Am J Med Genet 1993;46:486-491.
-
(1993)
Am J Med Genet
, vol.46
, pp. 486-491
-
-
Maraita, M.L.1
Ploughman, L.M.2
Rawlings, R.3
Remington, E.4
Amos, K.S.5
Nance, W.E.6
-
37
-
-
0026451111
-
Practical approach to diagnosis and management of hereditary hearing impairment (HHI)
-
Grundfast KM. Lalwani AK: Practical approach to diagnosis and management of hereditary hearing impairment (HHI). Ear Nose Throat J 1992:71:479-493.
-
(1992)
Ear Nose Throat J
, vol.71
, pp. 479-493
-
-
Grundfast, K.M.1
Lalwani, A.K.2
-
38
-
-
0013816054
-
Sex-linked recessive congenital deafness and the excess of males in profound childhood deafness
-
Fraser GR: Sex-linked recessive congenital deafness and the excess of males in profound childhood deafness. Ann Hum Genet 1965:29: 171-196.
-
(1965)
Ann Hum Genet
, vol.29
, pp. 171-196
-
-
Fraser, G.R.1
-
39
-
-
0028860302
-
A type VII mvsoin encoded by the mouse deafness gene shaker-1
-
Gibson F. Walsh J. Mburu P: A type VII mvsoin encoded by the mouse deafness gene shaker-1. Nature 1995:374:62-64.
-
(1995)
Nature
, vol.374
, pp. 62-64
-
-
Gibson, F.1
Walsh, J.2
Mburu, P.3
-
40
-
-
0028815440
-
Defective myosin VilA gene responsible for Usher syndrome type 1B
-
Weil D, Blanchard S, Kaplan J: Defective myosin VilA gene responsible for Usher syndrome type 1B. Nature 1995:374:60-61.
-
(1995)
Nature
, vol.374
, pp. 60-61
-
-
Weil, D.1
Blanchard, S.2
Kaplan, J.3
-
41
-
-
0028803112
-
The mouse Snell’s waltzcr deafness gene encodes an unconventional myosin required for structural integrity of inner car haircells
-
Avraham KB. Hasson T. Steel KP. Kingsley DM. Russel LB. Mooscker MS. Copeland NG. Jenkins NA: The mouse Snell’s waltzcr deafness gene encodes an unconventional myosin required for structural integrity of inner car haircells. Nat Genet 1995:11:369-375.
-
(1995)
Nat Genet
, vol.11
, pp. 369-375
-
-
Avraham, K.B.1
Hasson, T.2
Steel, K.P.3
Kingsley, D.M.4
Russel, L.B.5
Mooscker, M.S.6
Copeland, N.G.7
Jenkins, N.A.8
-
42
-
-
0028988233
-
Association between X-linkcd mixed deafness and mutations in the POU domain gene POU3F4
-
de Kok YJM. van der Maarel SM. Bitner-Glindzicz M: Association between X-linkcd mixed deafness and mutations in the POU domain gene POU3F4. Science 1995:267:685-688.
-
(1995)
Science
, vol.267
, pp. 685-688
-
-
De Kok, Y.J.M.1
Van Der Maarel, S.M.2
Bitner-Glindzicz, M.3
|