-
1
-
-
0026410464
-
Genetic epidemiology of hearing impairment
-
Morton N.E. Genetic epidemiology of hearing impairment. Ann. N. Y. Acad. Sci. 1991, 630:16-31.
-
(1991)
Ann. N. Y. Acad. Sci.
, vol.630
, pp. 16-31
-
-
Morton, N.E.1
-
2
-
-
0029807805
-
Genes responsible for human hereditary deafness: symphony of a thousand
-
Peter C. Genes responsible for human hereditary deafness: symphony of a thousand. Nat. Genet. 1996, 14:385-391.
-
(1996)
Nat. Genet.
, vol.14
, pp. 385-391
-
-
Peter, C.1
-
3
-
-
0037092599
-
Genetics, genomics and gene discovery in the auditory system
-
Morton C.C. Genetics, genomics and gene discovery in the auditory system. Hum. Mol. Genet. 2002, 11:1229-1240.
-
(2002)
Hum. Mol. Genet.
, vol.11
, pp. 1229-1240
-
-
Morton, C.C.1
-
4
-
-
17844406369
-
Nuclear and mitochondrial genes mutated in nonsyndromic impaired hearing
-
Finsterer J., Fellinger J. Nuclear and mitochondrial genes mutated in nonsyndromic impaired hearing. Int. J. Pediatr. Otorhinolaryngol. 2005, 69(5):621-647.
-
(2005)
Int. J. Pediatr. Otorhinolaryngol.
, vol.69
, Issue.5
, pp. 621-647
-
-
Finsterer, J.1
Fellinger, J.2
-
5
-
-
0036724557
-
Mutations in a novel gene, TMIE, are associated with hearing loss linked to the DFNB6 locus
-
Naz S., Giguere C.M., Kohrman D.C., Mitchem K.L., Riazuddin S., Morell R.J., et al. Mutations in a novel gene, TMIE, are associated with hearing loss linked to the DFNB6 locus. Am. J. Hum. Genet. 2002, 71:632-636.
-
(2002)
Am. J. Hum. Genet.
, vol.71
, pp. 632-636
-
-
Naz, S.1
Giguere, C.M.2
Kohrman, D.C.3
Mitchem, K.L.4
Riazuddin, S.5
Morell, R.J.6
-
6
-
-
0036667988
-
Mutation of the novel gene TMIE results in sensory cell defects in the inner ear of spinner, a mouse model of human hearing loss DFNB6
-
Mitchem K.L., Hibbard E., Beyer L.A., Bosom K., Dootz G.A., Dolan D.F., et al. Mutation of the novel gene TMIE results in sensory cell defects in the inner ear of spinner, a mouse model of human hearing loss DFNB6. Hum. Mol. Genet. 2002, 16:1887-1898.
-
(2002)
Hum. Mol. Genet.
, vol.16
, pp. 1887-1898
-
-
Mitchem, K.L.1
Hibbard, E.2
Beyer, L.A.3
Bosom, K.4
Dootz, G.A.5
Dolan, D.F.6
-
7
-
-
42149183040
-
The transmembrane inner ear (TMIE) gene contributes to vestibular and lateral line development and function in the zebrafish (Danio rerio)
-
Shen Y.C., Jeyabalan A.K., Wu K.L., Hunker K.L., Kohrman D.C., Thompson D.L., et al. The transmembrane inner ear (TMIE) gene contributes to vestibular and lateral line development and function in the zebrafish (Danio rerio). Dev. Dyn. 2008, 237(4):941-952.
-
(2008)
Dev. Dyn.
, vol.237
, Issue.4
, pp. 941-952
-
-
Shen, Y.C.1
Jeyabalan, A.K.2
Wu, K.L.3
Hunker, K.L.4
Kohrman, D.C.5
Thompson, D.L.6
-
8
-
-
44449101047
-
Expression and localization of TMIE in adult rat cochlea
-
Su M.C., Yang J.J., Chou M.Y., Hsin C.H., Su C.C., Li S.Y. Expression and localization of TMIE in adult rat cochlea. Histochem. Cell Biol. 2008, 130:119-126.
-
(2008)
Histochem. Cell Biol.
, vol.130
, pp. 119-126
-
-
Su, M.C.1
Yang, J.J.2
Chou, M.Y.3
Hsin, C.H.4
Su, C.C.5
Li, S.Y.6
-
9
-
-
33344474579
-
Novel sequence variants in the TMIE gene in families with autosomal recessive nonsyndromic hearing impairment
-
Santos R.L., El-Shanti H., Sikandar S., Lee K., Bhatti A., Yan K., et al. Novel sequence variants in the TMIE gene in families with autosomal recessive nonsyndromic hearing impairment. J. Mol. Med. 2006, 84(3):226-231.
-
(2006)
J. Mol. Med.
, vol.84
, Issue.3
, pp. 226-231
-
-
Santos, R.L.1
El-Shanti, H.2
Sikandar, S.3
Lee, K.4
Bhatti, A.5
Yan, K.6
-
10
-
-
0028862795
-
An Autosomal recessive nonsyndromic from of sensorineural hearing loss maps to 3p-DFNB6
-
Fukushima K., Ramesh A., Srisailapathy C.R.S., Ni L., Wayne S., O'Neill M.E., et al. An Autosomal recessive nonsyndromic from of sensorineural hearing loss maps to 3p-DFNB6. Gen. Res. 1995, 5:305-308.
-
(1995)
Gen. 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
-
11
-
-
0029886532
-
Parametric and nonparametric linkage analysis: a unified multipoint approach
-
Kruglyak L., Daly M.J., Reeve-Daly M.P., Lander E.S. Parametric and nonparametric linkage analysis: a unified multipoint approach. Am. J. Hum. Genet. 1996, 58:1347-1363.
-
(1996)
Am. J. Hum. Genet.
, vol.58
, pp. 1347-1363
-
-
Kruglyak, L.1
Daly, M.J.2
Reeve-Daly, M.P.3
Lander, E.S.4
-
12
-
-
0042121237
-
Multiple sequence alignment with the Clustal series of programs
-
Chenna R., Sugawara H., Koike T., Lopez R., Gibson T.J., Higgins D.G., et al. Multiple sequence alignment with the Clustal series of programs. Nucleic Acids Res. 2003, 31:3497-3500.
-
(2003)
Nucleic Acids Res.
, vol.31
, pp. 3497-3500
-
-
Chenna, R.1
Sugawara, H.2
Koike, T.3
Lopez, R.4
Gibson, T.J.5
Higgins, D.G.6
-
13
-
-
0031860393
-
Databases on transcriptional regulation: TRANSFAC, TRRD, and COMPEL
-
Heinemeyer T., Wingender E., Reuter I., Hermjakob H., Kel A.E., Kel O.V., Ignatieva E.V., Ananko E.A., Podkolodnaya O.A., Kolpakov F.A., Podkolodny N.L., Kolchanov N.A. Databases on transcriptional regulation: TRANSFAC, TRRD, and COMPEL. Nucleic Acids Res. 1998, 26:364-370.
-
(1998)
Nucleic Acids Res.
, vol.26
, pp. 364-370
-
-
Heinemeyer, T.1
Wingender, E.2
Reuter, I.3
Hermjakob, H.4
Kel, A.E.5
Kel, O.V.6
Ignatieva, E.V.7
Ananko, E.A.8
Podkolodnaya, O.A.9
Kolpakov, F.A.10
Podkolodny, N.L.11
Kolchanov, N.A.12
-
14
-
-
34147189019
-
Identification of mutations in members of connexin gene family as a cause of nonsyndromic deafness in Taiwan
-
Yang J.J., Huang S.H., Chou K.H., Liao P.J., Su C.C., Li S.Y. Identification of mutations in members of connexin gene family as a cause of nonsyndromic deafness in Taiwan. Audiol. Neurootol. 2007, 12:198-208.
-
(2007)
Audiol. Neurootol.
, vol.12
, pp. 198-208
-
-
Yang, J.J.1
Huang, S.H.2
Chou, K.H.3
Liao, P.J.4
Su, C.C.5
Li, S.Y.6
-
15
-
-
33845715168
-
Identification of novel mutations in the KCNQ4 gene of patients with nonsyndromic deafness from Taiwan
-
Su C.C., Yang J.J., Shieh J.C., Su M.C., Li S.Y. Identification of novel mutations in the KCNQ4 gene of patients with nonsyndromic deafness from Taiwan. Audiol. Neurootol. 2007, 12:20-26.
-
(2007)
Audiol. Neurootol.
, vol.12
, pp. 20-26
-
-
Su, C.C.1
Yang, J.J.2
Shieh, J.C.3
Su, M.C.4
Li, S.Y.5
-
16
-
-
67349180244
-
Identification of novel variants in the Myosin VIIA gene of patients with non-syndromic hearing loss from Taiwan
-
Su M.C., Yang J.J., Su C.C., Chou M.Y., Li S.Y. Identification of novel variants in the Myosin VIIA gene of patients with non-syndromic hearing loss from Taiwan. Int. J. Pediatr. Otorhinolaryngol. 2009, 73:811-815.
-
(2009)
Int. J. Pediatr. Otorhinolaryngol.
, vol.73
, pp. 811-815
-
-
Su, M.C.1
Yang, J.J.2
Su, C.C.3
Chou, M.Y.4
Li, S.Y.5
-
17
-
-
0028245437
-
Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci
-
Kajiwara K., Berson E.L., Dryja T.P. Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci. Science 1994, 264:1604-1608.
-
(1994)
Science
, vol.264
, pp. 1604-1608
-
-
Kajiwara, K.1
Berson, E.L.2
Dryja, T.P.3
-
18
-
-
0035929273
-
Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder
-
Katsanis N., Beales P.L., Woods M.O., Lewis R.A., Green J.S., Parfrey P.S., et al. Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder. Science 2001, 293:2256-2259.
-
(2001)
Science
, vol.293
, pp. 2256-2259
-
-
Katsanis, N.1
Beales, P.L.2
Woods, M.O.3
Lewis, R.A.4
Green, J.S.5
Parfrey, P.S.6
-
19
-
-
0033361767
-
Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschsprung disease
-
Auricchio A., Griseri P., Carpentieri M.L., Betsos N., Staiano A., Tozzi A., et al. Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschsprung disease. Am. J. Hum. Genet. 1999, 64:1216-1221.
-
(1999)
Am. J. Hum. Genet.
, vol.64
, pp. 1216-1221
-
-
Auricchio, A.1
Griseri, P.2
Carpentieri, M.L.3
Betsos, N.4
Staiano, A.5
Tozzi, A.6
-
20
-
-
0030979154
-
Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA)
-
Morell R., Spritz R.A., Ho L., Pierpont J., Guo W., Friedman T.B., et al. Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA). Hum. Mol. Genet. 1997, 6:659-664.
-
(1997)
Hum. Mol. Genet.
, vol.6
, pp. 659-664
-
-
Morell, R.1
Spritz, R.A.2
Ho, L.3
Pierpont, J.4
Guo, W.5
Friedman, T.B.6
-
21
-
-
0035513485
-
A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in nonsyndromic deafness: a novel founder mutation in Ashkenazi Jews
-
Lerer I., Sagi M., Ben-Neriah Z., Wang T., Levi H., Abeliovich D. A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in nonsyndromic deafness: a novel founder mutation in Ashkenazi Jews. Hum. Mutat. 2001, 18:460.
-
(2001)
Hum. Mutat.
, vol.18
, pp. 460
-
-
Lerer, I.1
Sagi, M.2
Ben-Neriah, Z.3
Wang, T.4
Levi, H.5
Abeliovich, D.6
-
22
-
-
27744563384
-
Expression patterns of connexin 29 (GJE1) in mouse and rat cochlea
-
Yang J.J., Liao P.J., Su C.C., Li S.Y. Expression patterns of connexin 29 (GJE1) in mouse and rat cochlea. Biochem. Biophys. Res. Commun. 2005, 338:723-728.
-
(2005)
Biochem. Biophys. Res. Commun.
, vol.338
, pp. 723-728
-
-
Yang, J.J.1
Liao, P.J.2
Su, C.C.3
Li, S.Y.4
-
23
-
-
76249086098
-
A novel mutation in the connexin 29 gene may contribute to nonsyndromic hearing loss
-
Hong H.M., Yang J.J., Su C.C., Chang J.Y., Li T.C., Li S.Y. A novel mutation in the connexin 29 gene may contribute to nonsyndromic hearing loss. Hum. Genet. 2010, 127:191-199.
-
(2010)
Hum. Genet.
, vol.127
, pp. 191-199
-
-
Hong, H.M.1
Yang, J.J.2
Su, C.C.3
Chang, J.Y.4
Li, T.C.5
Li, S.Y.6
-
24
-
-
0032577261
-
Protein phosphorylation: technologies for the identification of phosphoamino acids
-
Yan J.X., Packer N.H., Gooley A.A., Williams K.L. Protein phosphorylation: technologies for the identification of phosphoamino acids. J. Chromatogr. A 1998, 808:23-41.
-
(1998)
J. Chromatogr. A
, vol.808
, pp. 23-41
-
-
Yan, J.X.1
Packer, N.H.2
Gooley, A.A.3
Williams, K.L.4
|