-
2
-
-
0029562474
-
Inherited hearing defects in mice
-
Steel KP. Inherited hearing defects in mice. Annu Rev Genet. 29:1995;675-701.
-
(1995)
Annu Rev Genet
, vol.29
, pp. 675-701
-
-
Steel, K.P.1
-
3
-
-
0028860302
-
A type VII myosin encoded by the mouse deafness gene shaker-1
-
of outstanding interest. The first gene involved in neuroepithelial deafness to be identified codes for an unconventional myosin molecule, myosin VII. This report describes the identification by positional cloning of the gene and three of its mutations in shaker-1 mutant mice.
-
Gibson F, Walsh J, Mburu P, Varela A, Brown KA, Antonio M, Beisel KW, Steel KP, Brown SDM. A type VII myosin encoded by the mouse deafness gene shaker-1. of outstanding interest Nature. 374:1995;62-64 The first gene involved in neuroepithelial deafness to be identified codes for an unconventional myosin molecule, myosin VII. This report describes the identification by positional cloning of the gene and three of its mutations in shaker-1 mutant mice.
-
(1995)
Nature
, vol.374
, pp. 62-64
-
-
Gibson, F.1
Walsh, J.2
Mburu, P.3
Varela, A.4
Brown, K.A.5
Antonio, M.6
Beisel, K.W.7
Steel, K.P.8
Brown, S.D.M.9
-
4
-
-
0028815440
-
Defective myosin VIIA gene responsible for Usher syndrome type 1B
-
of outstanding interest. Usher type 1B involves deafness, balance defects and progressive retinitis pigmentosa, and is attributable to mutations in the human myosin VII gene. The gene was identified after the mouse shaker-1 gene, which localizes to a homologous chromosomal region, was identified as encoding myosin VII.
-
Weil D, Blanchard S, Kaplan J, Guilford P, Gibson F, Walsh J, Mburu P, Varela A, Levilliers J, Weston MD, et al. Defective myosin VIIA gene responsible for Usher syndrome type 1B. of outstanding interest Nature. 374:1995;60-61 Usher type 1B involves deafness, balance defects and progressive retinitis pigmentosa, and is attributable to mutations in the human myosin VII gene. The gene was identified after the mouse shaker-1 gene, which localizes to a homologous chromosomal region, was identified as encoding myosin VII.
-
(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
Varela, A.8
Levilliers, J.9
Weston, M.D.10
-
5
-
-
0028803112
-
The mouse Snell's waltzer deafness gene encodes an unconventional myosin required for structural integrity of inner ear hair cells
-
of outstanding interest. These authors identified a gene responsible for neuroepithelial deafness, Snell's waltzer, which, like shaker-1, also remarkably turned out to encode an unconventional myosin molecule, myosin VI.
-
Avraham KB, Hasson T, Steel KP, Kingsley DM, Russell LB, Mooseker MS, Copeland NG, Jenkins NA. The mouse Snell's waltzer deafness gene encodes an unconventional myosin required for structural integrity of inner ear hair cells. of outstanding interest Nature Genet. 11:1995;369-375 These authors identified a gene responsible for neuroepithelial deafness, Snell's waltzer, which, like shaker-1, also remarkably turned out to encode an unconventional myosin molecule, myosin VI.
-
(1995)
Nature Genet
, vol.11
, pp. 369-375
-
-
Avraham, K.B.1
Hasson, T.2
Steel, K.P.3
Kingsley, D.M.4
Russell, L.B.5
Mooseker, M.S.6
Copeland, N.G.7
Jenkins, N.A.8
-
6
-
-
0028787263
-
Expression in cochlea and retina of myosin VIIa, the gene product defective in Usher syndrome type 1B
-
of outstanding interest. Myosin VIIa is shown to be expressed in sensory hair cells of the mature cochlea, but is not detected in supporting cells. Furthermore, within the retina, the greatest level of expression occurs in the pigmented retinal epithelium, suggesting this structure might be involved in the progressive retinitis pigmentosa seen in humans with Usher syndrome type 1B, who have mutations in the myosin VIIa gene.
-
Hasson T, Heintzelman MB, Santos-Sacchi J, Corey DP, Mooseker MS. Expression in cochlea and retina of myosin VIIa, the gene product defective in Usher syndrome type 1B. of outstanding interest Proc Natl Acad Sci USA. 92:1995;9815-9819 Myosin VIIa is shown to be expressed in sensory hair cells of the mature cochlea, but is not detected in supporting cells. Furthermore, within the retina, the greatest level of expression occurs in the pigmented retinal epithelium, suggesting this structure might be involved in the progressive retinitis pigmentosa seen in humans with Usher syndrome type 1B, who have mutations in the myosin VIIa gene.
-
(1995)
Proc Natl Acad Sci USA
, vol.92
, pp. 9815-9819
-
-
Hasson, T.1
Heintzelman, M.B.2
Santos-Sacchi, J.3
Corey, D.P.4
Mooseker, M.S.5
-
7
-
-
0013985845
-
Snell's waltzer, a new mutation affecting behaviour and the inner ear in the mouse
-
Deol MS, Green MC. Snell's waltzer, a new mutation affecting behaviour and the inner ear in the mouse. Genet Res. 8:1966;339-345.
-
(1966)
Genet Res
, vol.8
, pp. 339-345
-
-
Deol, M.S.1
Green, M.C.2
-
8
-
-
0029928791
-
Skeletal overgrowth and deafness in mice lacking fibroblast growth factor receptor 3
-
of outstanding interest. Mice with a targeted disruption of the Fgfr3 gene show a novel type of organ of Corti pathology, with immature pillar (supporting) cells and failure of the tunnel space within the organ of Corti to open normally. These defects are associated with impaired auditory responses.
-
Colvin JS, Bohne BA, Harding GW, McEwen DG, Ornitz DM. Skeletal overgrowth and deafness in mice lacking fibroblast growth factor receptor 3. of outstanding interest Nature Genet. 12:1996;390-397 Mice with a targeted disruption of the Fgfr3 gene show a novel type of organ of Corti pathology, with immature pillar (supporting) cells and failure of the tunnel space within the organ of Corti to open normally. These defects are associated with impaired auditory responses.
-
(1996)
Nature Genet
, vol.12
, pp. 390-397
-
-
Colvin, J.S.1
Bohne, B.A.2
Harding, G.W.3
McEwen, D.G.4
Ornitz, D.M.5
-
9
-
-
0027409017
-
Unique expression pattern of the FGF receptor 3 gene during mouse organogenesis
-
Peters K, Ornitz D, Werner S, Williams L. Unique expression pattern of the FGF receptor 3 gene during mouse organogenesis. Dev Biol. 155:1993;423-430.
-
(1993)
Dev Biol
, vol.155
, pp. 423-430
-
-
Peters, K.1
Ornitz, D.2
Werner, S.3
Williams, L.4
-
10
-
-
13344278032
-
Chondrodysplasia and neurological abnormalities in ATF-2-deficient mice
-
Reimold AM, Grusby MJ, Kosaras B, Fries JWU, Mori R, Maniwa S, Clauss IM, Collins T, Sidman RL, Glimcher MJ, Glimcher LH. Chondrodysplasia and neurological abnormalities in ATF-2-deficient mice. Nature. 379:1996;262-265.
-
(1996)
Nature
, vol.379
, pp. 262-265
-
-
Reimold, A.M.1
Grusby, M.J.2
Kosaras, B.3
Fries, J.W.U.4
Mori, R.5
Maniwa, S.6
Clauss, I.M.7
Collins, T.8
Sidman, R.L.9
Glimcher, M.J.10
Glimcher, L.H.11
-
11
-
-
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. 355:1992;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
-
12
-
-
0026584439
-
An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome
-
Baldwin CT, Hoth CF, Amos JA, Da-Silva EO, Milunsky A. An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome. Nature. 355:1992;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
-
13
-
-
0027204149
-
Mutations at the mouse microphthalmia locus are associated with defects in a gene encoding a novel basic-helix-loop-helix-zipper protein
-
Hodgkinson CA, Moore KJ, Nakayama A, Steingrimsson E, Copeland NG, Jenkins NA, Arnheiter H. Mutations at the mouse microphthalmia locus are associated with defects in a gene encoding a novel basic-helix-loop-helix-zipper protein. Cell. 74:1993;395-404.
-
(1993)
Cell
, vol.74
, pp. 395-404
-
-
Hodgkinson, C.A.1
Moore, K.J.2
Nakayama, A.3
Steingrimsson, E.4
Copeland, N.G.5
Jenkins, N.A.6
Arnheiter, H.7
-
14
-
-
0027386022
-
A helix-loop-helix transcription factor-like gene is located at the mi locus
-
Hughes MJ, Lingrel JB, Karkowsky JM, Anderson KP. A helix-loop-helix transcription factor-like gene is located at the mi locus. J Biol Chem. 268:1993;20687-20690.
-
(1993)
J Biol Chem
, vol.268
, pp. 20687-20690
-
-
Hughes, M.J.1
Lingrel, J.B.2
Karkowsky, J.M.3
Anderson, K.P.4
-
15
-
-
0027943189
-
Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene
-
Tassabehji M, Newton VE, Read AP. Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene. Nature Genet. 8:1994;251-255.
-
(1994)
Nature Genet
, vol.8
, pp. 251-255
-
-
Tassabehji, M.1
Newton, V.E.2
Read, A.P.3
-
16
-
-
0028972923
-
The mutational spectrum in Waardenburg syndrome
-
Tassabehji M, Newton VE, Liu X-Z, Brady A, Donnai D, Krajewska-Walasek M, Murday V, Norman A, Obersztyn E, Reardon W, et al. The mutational spectrum in Waardenburg syndrome. Hum Mol Genet. 4:1995;2131-2137.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 2131-2137
-
-
Tassabehji, M.1
Newton, V.E.2
Liu X-Z3
Brady, A.4
Donnai, D.5
Krajewska-Walasek, M.6
Murday, V.7
Norman, A.8
Obersztyn, E.9
Reardon, W.10
-
17
-
-
0028618372
-
A missense mutation of the endothelin-B receptor gene in multigenic hirschsprung's disease
-
Puffenberger EG, Hosoda K, Washington SS, Nakao K, De Wit D, Yanagisawa M, Chakravarti A. A missense mutation of the endothelin-B receptor gene in multigenic hirschsprung's disease. Cell. 79:1994;1257-1266.
-
(1994)
Cell
, vol.79
, pp. 1257-1266
-
-
Puffenberger, E.G.1
Hosoda, K.2
Washington, S.S.3
Nakao, K.4
De Wit, D.5
Yanagisawa, M.6
Chakravarti, A.7
-
18
-
-
0028862473
-
Mutation of the endothelin-receptor B gene in Waardenburg-Hirschsprung disease
-
Attié T, Till M, Pelet A, Amiel J, Edery P, Boutrand L, Munnich A, Lyonnet S. Mutation of the endothelin-receptor B gene in Waardenburg-Hirschsprung disease. Hum Mol Genet. 4:1995;2407-2409.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 2407-2409
-
-
Attié, T.1
Till, M.2
Pelet, A.3
Amiel, J.4
Edery, P.5
Boutrand, L.6
Munnich, A.7
Lyonnet, S.8
-
19
-
-
0006457459
-
Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome)
-
Edery P, Attié T, Amiel J, Pelet A, Eng C, Hofstra RMW, Martelli H, Bidaud C, Munnich A, Lyonnet S. Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome). Nature Genet. 12:1996;442-444.
-
(1996)
Nature Genet
, vol.12
, pp. 442-444
-
-
Edery, P.1
Attié, T.2
Amiel, J.3
Pelet, A.4
Eng, C.5
Hofstra, R.M.W.6
Martelli, H.7
Bidaud, C.8
Munnich, A.9
Lyonnet, S.10
-
20
-
-
0009675716
-
A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome)
-
Hofstra RMW, Osinga J, Tan-Sindhunata G, Wu Y, Kamsteeg E-J, Stulp RP, Van Ravenswaaij-Arts C, Majoor-Krakauer D, Angrist M, Chakravarti A, et al. A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome). Nature Genet. 12:1996;445-447.
-
(1996)
Nature Genet
, vol.12
, pp. 445-447
-
-
Hofstra, R.M.W.1
Osinga, J.2
Tan-Sindhunata, G.3
Wu, Y.4
Kamsteeg E-J5
Stulp, R.P.6
Van Ravenswaaij-Arts, C.7
Majoor-Krakauer, D.8
Angrist, M.9
Chakravarti, A.10
-
21
-
-
0028609612
-
Interaction of endothelin-3 with endothelin-B receptor is essential for development of epidermal melanocytes and enteric neurons
-
Baynash AG, Hosoda K, Giaid A, Richardson JA, Emoto N, Hammer RE, Yanagisawa M. Interaction of endothelin-3 with endothelin-B receptor is essential for development of epidermal melanocytes and enteric neurons. Cell. 72:1994;1277-1285.
-
(1994)
Cell
, vol.72
, pp. 1277-1285
-
-
Baynash, A.G.1
Hosoda, K.2
Giaid, A.3
Richardson, J.A.4
Emoto, N.5
Hammer, R.E.6
Yanagisawa, M.7
-
22
-
-
0028639196
-
Targeted and natural (Piebald-Lethal) mutations of endothelin-B receptor gene produce megacolon associated with spotted coat color in mice
-
Hosoda K, Hammer RE, Richardson JA, Baynash AG, Cheung JC, Giaid A, Yanagisawa M. Targeted and natural (Piebald-Lethal) mutations of endothelin-B receptor gene produce megacolon associated with spotted coat color in mice. Cell. 79:1994;1267-1276.
-
(1994)
Cell
, vol.79
, pp. 1267-1276
-
-
Hosoda, K.1
Hammer, R.E.2
Richardson, J.A.3
Baynash, A.G.4
Cheung, J.C.5
Giaid, A.6
Yanagisawa, M.7
-
23
-
-
0029084742
-
Quantitative trait loci that modify the severity of spotting in piebald mice
-
Pavan WJ, Mac S, Cheng M, Tilghman SM. Quantitative trait loci that modify the severity of spotting in piebald mice. Genome Res. 5:1995;29-41.
-
(1995)
Genome Res
, vol.5
, pp. 29-41
-
-
Pavan, W.J.1
Mac, S.2
Cheng, M.3
Tilghman, S.M.4
-
24
-
-
0030070052
-
Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome
-
of special interest. A formidable effort is described in positional cloning of a dominant gene causing conductive hearing impairment in Treacher Collins syndrome, without the help of any mouse model and with the complication of extremely variable penetrance.
-
Dixon J, Edwards SJ, Gladwin AJ, Dixon MJ, Loftus SK, Bonner CA, Koprivnikar K, Wasmuth JJ. Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. of special interest Nature Genet. 12:1996;130-136 A formidable effort is described in positional cloning of a dominant gene causing conductive hearing impairment in Treacher Collins syndrome, without the help of any mouse model and with the complication of extremely variable penetrance.
-
(1996)
Nature Genet
, vol.12
, pp. 130-136
-
-
Dixon, J.1
Edwards, S.J.2
Gladwin, A.J.3
Dixon, M.J.4
Loftus, S.K.5
Bonner, C.A.6
Koprivnikar, K.7
Wasmuth, J.J.8
-
25
-
-
0028988233
-
Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4
-
of special interest. Identification of an X-linked gene causing mixed deafness, using a candidate gene approach following delineation of the candidate region by deletion mapping. Interestingly, some of the deletions do not cover the gene, and are thought to affect gene expression by position effects.
-
De Kok YJ, Van der Maarel SM, Bitner-Glindzicz M, Huber I, Monaco AP, Malcolm S, Pembrey ME, Ropers HH, Cremers FP. Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4. of special interest Science. 267:1995;685-688 Identification of an X-linked gene causing mixed deafness, using a candidate gene approach following delineation of the candidate region by deletion mapping. Interestingly, some of the deletions do not cover the gene, and are thought to affect gene expression by position effects.
-
(1995)
Science
, vol.267
, pp. 685-688
-
-
De Kok, Y.J.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
Ropers, H.H.8
Cremers, F.P.9
-
26
-
-
0000991395
-
The abnormalities of the inner ear in kreisler mice
-
Deol MS. The abnormalities of the inner ear in kreisler mice. J Embryol Exp Morphol. 12:1994;475-490.
-
(1994)
J Embryol Exp Morphol
, vol.12
, pp. 475-490
-
-
Deol, M.S.1
-
27
-
-
0028600585
-
The mouse segmentation gene kr encodes a novel basic domain-leucine zipper transcription factor
-
Cordes SP, Barsh GS. The mouse segmentation gene kr encodes a novel basic domain-leucine zipper transcription factor. Cell. 79:1994;1025-1034.
-
(1994)
Cell
, vol.79
, pp. 1025-1034
-
-
Cordes, S.P.1
Barsh, G.S.2
-
28
-
-
0027500633
-
Mice homozygous for a targeted disruption of the proto-oncogene int-2 have developmental defects in the tail and inner ear
-
Mansour SL, Goddard JM, Capecchi MR. Mice homozygous for a targeted disruption of the proto-oncogene int-2 have developmental defects in the tail and inner ear. Development. 117:1993;13-28.
-
(1993)
Development
, vol.117
, pp. 13-28
-
-
Mansour, S.L.1
Goddard, J.M.2
Capecchi, M.R.3
-
29
-
-
0026599290
-
Developmental defects of the ear, cranial nerves and hindbrain resulting from targeted disruption of the mouse homeobox gene Hox-1.6
-
Chisaka O, Musci TS, Capecchi MR. Developmental defects of the ear, cranial nerves and hindbrain resulting from targeted disruption of the mouse homeobox gene Hox-1.6. Nature. 355:1992;516-520.
-
(1992)
Nature
, vol.355
, pp. 516-520
-
-
Chisaka, O.1
Musci, T.S.2
Capecchi, M.R.3
-
30
-
-
0025864268
-
Disruption of the Hox-1.6 homeobox gene results in defects in a region corresponding to its rostral domain of expression
-
Lufkin T, Dierich A, LeMeur M, Mark M, Chambon P. Disruption of the Hox-1.6 homeobox gene results in defects in a region corresponding to its rostral domain of expression. Cell. 66:1991;1105-1119.
-
(1991)
Cell
, vol.66
, pp. 1105-1119
-
-
Lufkin, T.1
Dierich, A.2
LeMeur, M.3
Mark, M.4
Chambon, P.5
-
31
-
-
0026695288
-
The gene for an inherited form of deafness maps to chromosome 5q31
-
Leon PE, Raventos H, Lynch E, Morrow J, King M-C. The gene for an inherited form of deafness maps to chromosome 5q31. Proc Natl Acad Sci USA. 89:1992;5181-5184.
-
(1992)
Proc Natl Acad Sci USA
, vol.89
, pp. 5181-5184
-
-
Leon, P.E.1
Raventos, H.2
Lynch, E.3
Morrow, J.4
King M-C5
-
32
-
-
0028101878
-
Linkage of autosomal dominant hearing loss to the short arm of chromosome 1 in two families
-
Coucke P, Van Camp G, Djoyodiharjo B, Smith SD, Frants RR, Padberg GW, Darby JK, Huizing EH, Cremers WRJ, Kimberling WJ, et al. Linkage of autosomal dominant hearing loss to the short arm of chromosome 1 in two families. N Engl J Med. 331:1994;425-431.
-
(1994)
N Engl J Med
, vol.331
, pp. 425-431
-
-
Coucke, P.1
Van Camp, G.2
Djoyodiharjo, B.3
Smith, S.D.4
Frants, R.R.5
Padberg, G.W.6
Darby, J.K.7
Huizing, E.H.8
Cremers, W.R.J.9
Kimberling, W.J.10
-
33
-
-
0028555358
-
A gene responsible for a dominant form of neurosensory non-syndromic deafness maps to the NSRD1 recessive deafness gene interval
-
Chaib H, Lina-Granade G, Guilford P, Plauchu H, Levilliers J, Morgon A, Petit C. A gene responsible for a dominant form of neurosensory non-syndromic deafness maps to the NSRD1 recessive deafness gene interval. Hum Mol Genet. 3:1994;2219-2222.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 2219-2222
-
-
Chaib, H.1
Lina-Granade, G.2
Guilford, P.3
Plauchu, H.4
Levilliers, J.5
Morgon, A.6
Petit, C.7
-
34
-
-
0029031729
-
Linkage of a gene for dominant non-syndromic 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-syndromic deafness to chromosome 19. Hum Mol Genet. 4:1995;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.J.H.8
-
35
-
-
0028803173
-
Localization of a locus for non-syndromic hearing loss (DFNA5) to chromosome 7p
-
Van Camp G, Coucke P, Balemans W, Van Velzen D, Van der Bilt C, Smith RJH, Fukushima K, Padberg G, Frants RR, Van de Heyning P, et al. Localization of a locus for non-syndromic hearing loss (DFNA5) to chromosome 7p. Hum Mol Genet. 4:1995;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 der Bilt, C.5
Smith, R.J.H.6
Fukushima, K.7
Padberg, G.8
Frants, R.R.9
Van de Heyning, P.10
-
36
-
-
0028892097
-
A gene for autosomal dominant nonsyndromic hereditary hearing impairment maps to 4p16.3
-
Lesperance 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 4p16.3. Hum Mol Genet. 4:1995;1967-1972.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1967-1972
-
-
Lesperance, 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
-
37
-
-
8944247751
-
A gene for non-syndromic autosomal dominant progressive postlingual sensorineural hearing loss maps to chromosome 14q12-13
-
Manolis EN, Yandavi N, Nadol JB, Eavey RD, McKenna M, Rosenbaum S, Khetarpal U, Halpin C, Merchant SN, Duyk GM, et al. A gene for non-syndromic autosomal dominant progressive postlingual sensorineural hearing loss maps to chromosome 14q12-13. Hum Mol Genet. 5:1996;1047-1050.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1047-1050
-
-
Manolis, E.N.1
Yandavi, N.2
Nadol, J.B.3
Eavey, R.D.4
McKenna, M.5
Rosenbaum, S.6
Khetarpal, U.7
Halpin, C.8
Merchant, S.N.9
Duyk, G.M.10
-
38
-
-
15844390727
-
A gene for autosomal dominant late-onset progressive non-syndromic hearing loss, DFNA10, maps to chromosome 6
-
O'Neill ME, Marietta J, Nishimura D, Wayne S, Van Camp G, Van Laer L, Negrini C, Wilcox ER, Chen A, Fukushima K, et al. A gene for autosomal dominant late-onset progressive non-syndromic hearing loss, DFNA10, maps to chromosome 6. Hum Mol Genet. 5:1996;853-856.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 853-856
-
-
O'Neill, M.E.1
Marietta, J.2
Nishimura, D.3
Wayne, S.4
Van Camp, G.5
Van Laer, L.6
Negrini, C.7
Wilcox, E.R.8
Chen, A.9
Fukushima, K.10
-
39
-
-
0029898545
-
A gene for a dominant form of non-syndromic sensorineural deafness (DFNA11) maps within the region containing the DFNB2 recessive deafness gene
-
Tamagawa Y, Kitamura K, Ishida T, Ishikawa K, Tanaka H, Tsuji S, Nishizawa M. A gene for a dominant form of non-syndromic sensorineural deafness (DFNA11) maps within the region containing the DFNB2 recessive deafness gene. Hum Mol Genet. 5:1996;849-852.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 849-852
-
-
Tamagawa, Y.1
Kitamura, K.2
Ishida, T.3
Ishikawa, K.4
Tanaka, H.5
Tsuji, S.6
Nishizawa, M.7
-
40
-
-
0028249690
-
A non-syndromic form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13q
-
Guilford P, Arab SB, Blanchard S, Levilliers J, Weissenbach J, Belkahia A, Petit C. A non-syndromic form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13q. Nature Genet. 6:1994;24-28.
-
(1994)
Nature Genet
, vol.6
, pp. 24-28
-
-
Guilford, P.1
Arab, S.B.2
Blanchard, S.3
Levilliers, J.4
Weissenbach, J.5
Belkahia, A.6
Petit, C.7
-
41
-
-
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, Petit C. A human gene responsible for neurosensory, non-syndromic recessive deafness is a candidate homologue of the mouse sh-1 gene. Hum Mol Genet. 3:1994;989-993.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 989-993
-
-
Guilford, P.1
Ayadi, H.2
Blanchard, S.3
Chaib, H.4
Le Paslier, D.5
Weissenbach, J.6
Drira, M.7
Petit, C.8
-
42
-
-
0028836920
-
A gene for congenital, recessive deafness DFNB3 maps to the pericentromeric region of chromosome 17
-
Friedman TB, Liang Y, Weber JL, Hinnant JT, Barber TD, Winata S, Arhya IN, Asher JH Jr. A gene for congenital, recessive deafness DFNB3 maps to the pericentromeric region of chromosome 17. Nature Genet. 9:1995;86-91.
-
(1995)
Nature Genet
, vol.9
, pp. 86-91
-
-
Friedman, T.B.1
Liang, Y.2
Weber, J.L.3
Hinnant, J.T.4
Barber, T.D.5
Winata, S.6
Arhya, I.N.7
Asher J.H., Jr.8
-
43
-
-
0029145428
-
Linkage of congenital, recessive deafness (DFNB4) to chromosome 7q31 and evidence for genetic heterogeneity in the Middle Eastern Druze population
-
Baldwin CT, Farrer LA, Weiss S, De Stefano AL, Adair R, Franklyn B, Kidd KK, Korostishevsky M, Bonn-Tamir B. Linkage of congenital, recessive deafness (DFNB4) to chromosome 7q31 and evidence for genetic heterogeneity in the Middle Eastern Druze population. Hum Mol Genet. 4:1995;1637-1642.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1637-1642
-
-
Baldwin, C.T.1
Farrer, L.A.2
Weiss, S.3
De Stefano, A.L.4
Adair, R.5
Franklyn, B.6
Kidd, K.K.7
Korostishevsky, M.8
Bonn-Tamir, B.9
-
44
-
-
0029086703
-
Consanguineous nuclear families used to identify a new locus for recessive non-syndromic hearing loss on 14q
-
Fukushima K, Arabandi R, Srisailapathy CRS, Ni L, Chen A, O'Neill M, Van Camp G, Coucke P, Smith SD, Kenyon JB, et al. Consanguineous nuclear families used to identify a new locus for recessive non-syndromic hearing loss on 14q. Hum Mol Genet. 4:1995;1643-1648.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1643-1648
-
-
Fukushima, K.1
Arabandi, R.2
Srisailapathy, C.R.S.3
Ni, L.4
Chen, A.5
O'Neill, M.6
Van Camp, G.7
Coucke, P.8
Smith, S.D.9
Kenyon, J.B.10
-
45
-
-
0028862795
-
An autosomal recessive non-syndromic form of sensorineural hearing loss maps to 3p-DFNB6
-
Fukushima K, Ramesh A, Srisailapathy CRS, Ni L, Wayne S, O'Neill ME, Van Camp G, Coucke P, Jain P, Wilcox ER, et al. An autosomal recessive non-syndromic form of sensorineural hearing loss maps to 3p-DFNB6. Genome Res. 5:1995;305-308.
-
(1995)
Genome Res
, vol.5
, pp. 305-308
-
-
Fukushima, K.1
Ramesh, A.2
Srisailapathy, C.R.S.3
Ni, L.4
Wayne, S.5
O'Neill, M.E.6
Van Camp, G.7
Coucke, P.8
Jain, P.9
Wilcox, E.R.10
-
46
-
-
0028837681
-
A human recessive neurosensory nonsyndromic hearing impairment locus is a potential homologue of the murine deafness (dn) locus
-
Jain PK, Fukushima K, Deshmukh D, Arabandi R, Thomas E, Kumar S, Lalwani AK, Ploplis B, Skarka H, Srisailapathy CRS, et al. A human recessive neurosensory nonsyndromic hearing impairment locus is a potential homologue of the murine deafness (dn) locus. Hum Mol Genet. 4:1995;2391-2394.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 2391-2394
-
-
Jain, P.K.1
Fukushima, K.2
Deshmukh, D.3
Arabandi, R.4
Thomas, E.5
Kumar, S.6
Lalwani, A.K.7
Ploplis, B.8
Skarka, H.9
Srisailapathy, C.R.S.10
-
47
-
-
0030070163
-
Autosomal recessive non-syndromic deafness locus (DFNB8) maps on chromosome 21q22 in large consanguineous kindred from Pakistan
-
Veske A, Oehlmann R, Younus F, Mohyuddin A, Muller-Myhsok B, Qasim Mehdi S, Gal A. Autosomal recessive non-syndromic deafness locus (DFNB8) maps on chromosome 21q22 in large consanguineous kindred from Pakistan. Hum Mol Genet. 5:1996;165-168.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 165-168
-
-
Veske, A.1
Oehlmann, R.2
Younus, F.3
Mohyuddin, A.4
Muller-Myhsok, B.5
Qasim Mehdi, S.6
Gal, A.7
-
48
-
-
0030047197
-
A gene responsible for a sensorineural nonsyndromic recessive deafness maps to chromosome 2p22-23
-
Chaib H, Place C, Salem N, Chardenoux S, Vincent C, Weissenbach J, El-Zir E, Loiselet J, Petit C. A gene responsible for a sensorineural nonsyndromic recessive deafness maps to chromosome 2p22-23. Hum Mol Genet. 5:1996;155-158.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 155-158
-
-
Chaib, H.1
Place, C.2
Salem, N.3
Chardenoux, S.4
Vincent, C.5
Weissenbach, J.6
El-Zir, E.7
Loiselet, J.8
Petit, C.9
-
49
-
-
0029883986
-
Linkage of congenital recessive deafness (gene DFNB10) to chromosome 21q22.3
-
Bonné-Tamir B, De Stefano AL, Briggs CE, Adair R, Franklyn B, Weiss S, Korostishevsky M, Frydman M, Baldwin CT, Farrer LA. Linkage of congenital recessive deafness (gene DFNB10) to chromosome 21q22.3. Am J Hum Genet. 58:1996;1254-1259.
-
(1996)
Am J Hum Genet
, vol.58
, pp. 1254-1259
-
-
Bonné-Tamir, B.1
De Stefano, A.L.2
Briggs, C.E.3
Adair, R.4
Franklyn, B.5
Weiss, S.6
Korostishevsky, M.7
Frydman, M.8
Baldwin, C.T.9
Farrer, L.A.10
-
50
-
-
0030054738
-
Mapping of DFNB12, a gene for a non-syndromal autosomal recessive deafness, to chromosome 10q21-22
-
Chaib H, Place C, Salem N, Dode D, Chardenoux S, Weissenbach J, El-Zir E, Loiselet J, Petit C. Mapping of DFNB12, a gene for a non-syndromal autosomal recessive deafness, to chromosome 10q21-22. Hum Mol Genet. 5:1996;1061-1064.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1061-1064
-
-
Chaib, H.1
Place, C.2
Salem, N.3
Dode, D.4
Chardenoux, S.5
Weissenbach, J.6
El-Zir, E.7
Loiselet, J.8
Petit, C.9
-
51
-
-
0028935319
-
A new X-linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22
-
Tranebjaerg L, Schwartz C, Eriksen H, Andreasson S, Ponjavic V, Dahl A, Stevenson RE, May M, Arena F, Barker D, et al. A new X-linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22. J Med Genet. 32:1995;257-263.
-
(1995)
J Med Genet
, vol.32
, pp. 257-263
-
-
Tranebjaerg, L.1
Schwartz, C.2
Eriksen, H.3
Andreasson, S.4
Ponjavic, V.5
Dahl, A.6
Stevenson, R.E.7
May, M.8
Arena, F.9
Barker, D.10
-
52
-
-
0027941201
-
A new nonsyndromic X-linked sensorineural hearing impairment linked to Xp21.2.LLL
-
Lalwani AK, Brister JR, Fex J, Grundfast KM, Pikus AT, Ploplis B, San Agustin T, Sharka H, Wilcox ER. A new nonsyndromic X-linked sensorineural hearing impairment linked to Xp21.2.LLL. Am H Hum Genet. 55:1994;685-694.
-
(1994)
Am H Hum Genet
, vol.55
, pp. 685-694
-
-
Lalwani, A.K.1
Brister, J.R.2
Fex, J.3
Grundfast, K.M.4
Pikus, A.T.5
Ploplis, B.6
San Agustin, T.7
Sharka, H.8
Wilcox, E.R.9
-
53
-
-
0027226069
-
Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness
-
Prezant TR, Agapian JV, Bohlman MC, Bu X, Oztas S, Qui WQ, Arnos KS, Cortopassi GA, Jaber L, Rotter JJ, et al. Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness. Nature Genet. 4:1993;289-294.
-
(1993)
Nature Genet
, vol.4
, pp. 289-294
-
-
Prezant, T.R.1
Agapian, J.V.2
Bohlman, M.C.3
Bu, X.4
Oztas, S.5
Qui, W.Q.6
Arnos, K.S.7
Cortopassi, G.A.8
Jaber, L.9
Rotter, J.J.10
-
54
-
-
0028288558
-
A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness
-
Reid FM, Vernham GA, Jacobs HT. A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness. Hum Mutat. 3:1994;243-247.
-
(1994)
Hum Mutat
, vol.3
, pp. 243-247
-
-
Reid, F.M.1
Vernham, G.A.2
Jacobs, H.T.3
-
55
-
-
0029119782
-
Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNA Ser(UCN) gene
-
Tiranti V, Charlot P, Carelli F, Toscano A, Soliveri P, Girlanda P, Carrara F, Fratta GM, Reid FM, Mariotti C, Zeviani M. Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNA Ser(UCN) gene. Hum Mol Genet. 4:1995;1421-1427.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1421-1427
-
-
Tiranti, V.1
Charlot, P.2
Carelli, F.3
Toscano, A.4
Soliveri, P.5
Girlanda, P.6
Carrara, F.7
Fratta, G.M.8
Reid, F.M.9
Mariotti, C.10
Zeviani, M.11
-
56
-
-
8244263673
-
Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4
-
Coyle B, Coffey R, Armour JAL, Gausden E, Hochberg Z, Grossman A, Britton K, Pembrey M, Reardon W, Trembath R. Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4. Nature Genet. 12:1996;421-423.
-
(1996)
Nature Genet
, vol.12
, pp. 421-423
-
-
Coyle, B.1
Coffey, R.2
Armour, J.A.L.3
Gausden, E.4
Hochberg, Z.5
Grossman, A.6
Britton, K.7
Pembrey, M.8
Reardon, W.9
Trembath, R.10
-
57
-
-
0029963073
-
Pendred syndrome maps to chromosome 7q21-34 and is caused by an intrinsic defect in thyroid iodine organification
-
Sheffield VC, Kraiem Z, Beck JC, Nishimura D, Stone EM, Salameh M, Sadeh O, Glaser B. Pendred syndrome maps to chromosome 7q21-34 and is caused by an intrinsic defect in thyroid iodine organification. Nature Genet. 12:1996;424-426.
-
(1996)
Nature Genet
, vol.12
, pp. 424-426
-
-
Sheffield, V.C.1
Kraiem, Z.2
Beck, J.C.3
Nishimura, D.4
Stone, E.M.5
Salameh, M.6
Sadeh, O.7
Glaser, B.8
-
58
-
-
0028944149
-
Molecular cloning and characterisation of an inner ear-specific structural protein
-
Davis JG, Oberholtzer JC, Burns FR, Greene MI. Molecular cloning and characterisation of an inner ear-specific structural protein. Science. 267:1995;1031-1034.
-
(1995)
Science
, vol.267
, pp. 1031-1034
-
-
Davis, J.G.1
Oberholtzer, J.C.2
Burns, F.R.3
Greene, M.I.4
-
59
-
-
0028171296
-
α9: An acetylcholine receptor with novel pharmacological properties expressed in rat cochlear hair cells
-
Elgoyhen AB, Johnson DS, Boulter J, Vetter DE, Heinemann S. α9: an acetylcholine receptor with novel pharmacological properties expressed in rat cochlear hair cells. Cell. 79:1994;705-715.
-
(1994)
Cell
, vol.79
, pp. 705-715
-
-
Elgoyhen, A.B.1
Johnson, D.S.2
Boulter, J.3
Vetter, D.E.4
Heinemann, S.5
-
60
-
-
0027960895
-
Molecular cloning of a myosin 1 isozyme that may mediate adaptation by hair cells of the bullfrog's internal ear
-
Metcalf A, Chelliah Y, Hudspeth AJ. Molecular cloning of a myosin 1 isozyme that may mediate adaptation by hair cells of the bullfrog's internal ear. Proc Natl Acad Sci USA. 91:1994;11821-11825.
-
(1994)
Proc Natl Acad Sci USA
, vol.91
, pp. 11821-11825
-
-
Metcalf, A.1
Chelliah, Y.2
Hudspeth, A.J.3
-
61
-
-
0003154314
-
Molecular cloning of myosins from the bullfrog saccular macula: A candidate for the hair-cell adaptation motor
-
Solc CF, Derfler BH, Duyk GM, Corey DP. Molecular cloning of myosins from the bullfrog saccular macula: a candidate for the hair-cell adaptation motor. Aud Neurosci. 1:1994;63-75.
-
(1994)
Aud Neurosci
, vol.1
, pp. 63-75
-
-
Solc, C.F.1
Derfler, B.H.2
Duyk, G.M.3
Corey, D.P.4
|