-
2
-
-
77951713725
-
A novel mutation adjacent to the Bth mouse mutation in the TMC1 gene makes this mouse an excellent model of human deafness at the DFNA36 locus
-
Yang T, Kahrizi K, Bazazzadeghan N, Meyer N, Najmabadi, Smith RJ. A novel mutation adjacent to the Bth mouse mutation in the TMC1 gene makes this mouse an excellent model of human deafness at the DFNA36 locus. Clin Genet 2010;77:395-8.
-
(2010)
Clin Genet
, vol.77
, pp. 395-398
-
-
Yang, T.1
Kahrizi, K.2
Bazazzadeghan, N.3
Meyer, N.4
Najmabadi5
Smith, R.J.6
-
3
-
-
63349110148
-
Mutations in TMC1 contribute significantly to nonsyndromic autosomal recessive sensorineural hearing loss: A report of five novel mutations
-
Sirmaci A, Duman D, Oztürkmen-Akay H, et al. Mutations in TMC1 contribute significantly to nonsyndromic autosomal recessive sensorineural hearing loss: a report of five novel mutations. Int J Pediatr Otorhinolaryngol 2009;73:699-705.
-
(2009)
Int J Pediatr Otorhinolaryngol
, vol.73
, pp. 699-705
-
-
Sirmaci, A.1
Duman, D.2
Oztürkmen-Akay, H.3
-
4
-
-
33344464081
-
Novel sequence variants in the TMC1 gene in Pakistani families with autosomal recessive hearing impairment
-
Santos RL, Wajid M, Khan MN, et al. Novel sequence variants in the TMC1 gene in Pakistani families with autosomal recessive hearing impairment. Hum Mutat 2005;26:396.
-
(2005)
Hum Mutat
, vol.26
, pp. 396
-
-
Santos, R.L.1
Wajid, M.2
Khan, M.N.3
-
5
-
-
44849098718
-
TMC1 but not TMC2 is responsible for autosomal recessive nonsyndromic hearing impairment in Tunisian families
-
Tlili A, Rebeh IB, Aifa-Hmani M, et al. TMC1 but not TMC2 is responsible for autosomal recessive nonsyndromic hearing impairment in Tunisian families. Audiol Neurootol 2008;13:213-8.
-
(2008)
Audiol Neurootol
, vol.13
, pp. 213-218
-
-
Tlili, A.1
Rebeh, I.B.2
Aifa-Hmani, M.3
-
6
-
-
33644877948
-
Novel TMC1 structural and splice variants associated with congenital nonsyndromic deafness in a Sudanese pedigree
-
Meyer CG, Gasmelseed NM, Mergani A, et al. Novel TMC1 structural and splice variants associated with congenital nonsyndromic deafness in a Sudanese pedigree. Hum Mutat 2005;25:100.
-
(2005)
Hum Mutat
, vol.25
, pp. 100
-
-
Meyer, C.G.1
Gasmelseed, N.M.2
Mergani, A.3
-
7
-
-
36248940280
-
Identities, frequencies and origins of TMC1 mutations causing DFNB7/B11 deafness in Pakistan
-
DOI 10.1111/j.1399-0004.2007.00895.x
-
Kitajiri SI, McNamara R, Makishima T, et al. Identities, frequencies, and origins of TMC1 mutations causing DFNB7/B11 deafness in Pakistan. Clin Genet 2007;72:546-50. (Pubitemid 350131061)
-
(2007)
Clinical Genetics
, vol.72
, Issue.6
, pp. 546-550
-
-
Kitajiri, A.-I.1
McNamara, R.2
Makishima, T.3
Husnain, T.4
Zafar, A.U.5
Kittles, R.A.6
Ahmed, Z.M.7
Friedman, T.B.8
Riazuddin, S.9
Griffith, A.J.10
-
8
-
-
33646139585
-
Four novel TMC1 (DFNB7/DFNB11) mutations in Turkish patients with congenital autosomal recessive nonsyndromic hearing loss
-
Kalay E, Karaguzel A, Caylan R, et al. Four novel TMC1 (DFNB7/DFNB11) mutations in Turkish patients with congenital autosomal recessive nonsyndromic hearing loss. Hum Mutat 2005;26:591.
-
(2005)
Hum Mutat
, vol.26
, pp. 591
-
-
Kalay, E.1
Karaguzel, A.2
Caylan, R.3
-
9
-
-
0036510053
-
Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function
-
Kurima K, Peters LM, Yang Y, et al. Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function. Nat Genet 2002;30:277-84.
-
(2002)
Nat Genet
, vol.30
, pp. 277-284
-
-
Kurima, K.1
Peters, L.M.2
Yang, Y.3
-
10
-
-
49549121850
-
Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11
-
Hilgert N, Alasti F, Dieltjens N, et al. Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11. Clin Genet 2008;74:223-32.
-
(2008)
Clin Genet
, vol.74
, pp. 223-232
-
-
Hilgert, N.1
Alasti, F.2
Dieltjens, N.3
-
11
-
-
59349118706
-
Forty-six genes causing nonsyndromic hearing impairment: Which ones should be analyzed in DNA diagnostics?
-
Hilgert N, Smith RJ, Van Camp G. Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics? Mutat Res 2009;681:189-96.
-
(2009)
Mutat Res
, vol.681
, pp. 189-196
-
-
Hilgert, N.1
Smith, R.J.2
Van Camp, G.3
-
12
-
-
33846682263
-
A novel mutation at the DFNA36 hearing loss locus reveals a critical function and potential genotype - Phenotype correlation for amino acid-572 of TMC1
-
DOI 10.1111/j.1399-0004.2007.00739.x
-
Kitajiri S, Makishima T, Friedman TB, Griffith AJ. A novel mutation at the DFNA36 hearing loss locus reveals a critical function and potential genotype-phenotype correlation for amino acid-572 of TMC1. Clin Genet 2007;71:148-52. (Pubitemid 46189218)
-
(2007)
Clinical Genetics
, vol.71
, Issue.2
, pp. 148-152
-
-
Kitajiri, S.1
Makishima, T.2
Friedman, T.B.3
Griffith, A.J.4
-
13
-
-
63149141393
-
Amino acid 572 in TMC1: Hot spot or critical functional residue for dominant mutations causing hearing impairment
-
Hilgert N, Monahan K, Kurima K, et al. Amino acid 572 in TMC1: hot spot or critical functional residue for dominant mutations causing hearing impairment. J Hum Genet 2009;54:188-90.
-
(2009)
J Hum Genet
, vol.54
, pp. 188-190
-
-
Hilgert, N.1
Monahan, K.2
Kurima, K.3
-
14
-
-
0036509711
-
Beethoven, a mouse model for dominant, progressive hearing loss DFNA36
-
Vreugde S, Erven A, Kros CJ, et al. Beethoven, a mouse model for dominant, progressive hearing loss DFNA36. Nat Genet 2002;30:257-8.
-
(2002)
Nat Genet
, vol.30
, pp. 257-258
-
-
Vreugde, S.1
Erven, A.2
Kros, C.J.3
-
15
-
-
33746217842
-
Tmc1 is necessary for normal functional maturation and survival of inner and outer hair cells in the mouse cochlea
-
DOI 10.1113/jphysiol.2005.095661
-
Marcotti W, Erven A, Johnson SL, Steel KP, Kros CJ. Tmc1 is necessary for normal functional maturation and survival of inner and outer hair cells in the mouse cochlea. J Physiol 2006;574:677-98. (Pubitemid 44089067)
-
(2006)
Journal of Physiology
, vol.574
, Issue.3
, pp. 677-698
-
-
Marcotti, W.1
Erven, A.2
Johnson, S.L.3
Steel, K.P.4
Kros, C.J.5
-
16
-
-
0024427198
-
A simple and efficient non-organic procedure for the isolation of genomic DNA from blood
-
Grimberg J, Nawoschik S, Belluscio L, McKee R, Turck A, Eisenberg A. A simple and efficient non-organic procedure for the isolation of genomic DNA from blood. Nucleic Acids Res 1989;17:8390. (Pubitemid 19267198)
-
(1989)
Nucleic Acids Research
, vol.17
, Issue.20
, pp. 8390
-
-
Grimberg, J.1
Nawoschik, S.2
Belluscio, L.3
McKee, R.4
Turck, A.5
Eisenberg, A.6
-
17
-
-
67650739409
-
Generating linkage mapping files from Affymetrix SNP chip data
-
Bahlo M, Bromhead CJ. Generating linkage mapping files from Affymetrix SNP chip data. Bioinformatics 2009;25:1961-2.
-
(2009)
Bioinformatics
, vol.25
, pp. 1961-1962
-
-
Bahlo, M.1
Bromhead, C.J.2
-
18
-
-
0030766420
-
A novel locus for autosomal dominant nonsyndromic hearing loss, DFNA13, maps to chromosome 6p
-
Brown MR, Tomek MS, Van Laer L, et al. A novel locus for autosomal dominant nonsyndromic hearing loss, DFNA13, maps to chromosome 6p. Am J Hum Genet 1997;61:924-7.
-
(1997)
Am J Hum Genet
, vol.61
, pp. 924-927
-
-
Brown, M.R.1
Tomek, M.S.2
Van Laer, L.3
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