-
1
-
-
85036702369
-
-
homepage Accessed May 20, 2010
-
Van Camp G, Smith RJH. Hereditary hearing loss homepage. http://hereditaryhearingloss.org. Accessed May 20, 2010.
-
-
-
Van Camp, G.1
Smith, R.J.H.2
-
2
-
-
73149115319
-
Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2
-
Liu X, Han D, Li J, et al. Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2. Am J Hum Genet 2010;86:65-71.
-
(2010)
Am J Hum Genet
, vol.86
, pp. 65-71
-
-
Liu, X.1
Han, D.2
Li, J.3
-
3
-
-
0026632820
-
Brain 4: A novel mammalian POU domain transcription factor exhibiting restricted brain-specific expression
-
Mathis JM, Simmons DM, He X, Swanson LW, Rosenfeld MG. Brain 4: a novel mammalian POU domain transcription factor exhibiting restricted brain-specific expression. EMBO J 1992;11:2551-61.
-
(1992)
EMBO J
, vol.11
, pp. 2551-2561
-
-
Mathis, J.M.1
Simmons, D.M.2
He, X.3
Swanson, L.W.4
Rosenfeld, M.G.5
-
4
-
-
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, et al. Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4. Science 1995;267:685-8.
-
(1995)
Science
, vol.267
, pp. 685-688
-
-
De Kok, Y.J.M.1
Van Der Maarel, S.M.2
Bitner-Glindzicz, M.3
-
5
-
-
29144469466
-
Deletion of and novel missense mutation in POU3F4 in 2 families segregating X-linked nonsyndromic deafness
-
Vore AP, Chang EH, Hoppe JE, et al. Deletion of and novel missense mutation in POU3F4 in 2 families segregating X-linked nonsyndromic deafness. Arch Otolaryngol Head Neck Surg 2005;131:1057-63.
-
(2005)
Arch Otolaryngol Head Neck Surg
, vol.131
, pp. 1057-1063
-
-
Vore, A.P.1
Chang, E.H.2
Hoppe, J.E.3
-
6
-
-
0033565422
-
Targeted mutagenesis of the POU-domain gene Brn4/Pou3f4 causes developmental defects in the inner ear
-
Phippard D, Lu L, Lee D, Saunders JC, Crenshaw EB III. Targeted mutagenesis of the POU-domain gene Brn4/Pou3f4 causes developmental defects in the inner ear. J Neurosci 1999;19:5980-9. (Pubitemid 29327932)
-
(1999)
Journal of Neuroscience
, vol.19
, Issue.14
, pp. 5980-5989
-
-
Phippard, D.1
Lu, L.2
Lee, D.3
Saunders, J.C.4
Crenshaw III, E.B.5
-
7
-
-
0033610073
-
Altered cochlear fibrocytes in a mouse model of DFN3 nonsyndromic deafness
-
Minowa O, Ikeda K, Sugitani Y, et al. Altered cochlear fibrocytes in a mouse model of DFN3 nonsyndromic deafness. Science 1999;285:1408-11.
-
(1999)
Science
, vol.285
, pp. 1408-1411
-
-
Minowa, O.1
Ikeda, K.2
Sugitani, Y.3
-
8
-
-
0025870974
-
X-linked deafness, stapes gushers and a distinctive defect of the inner ear
-
Phelps PD, Reardon W, Pembrey M, Bellman S, Luxom L. X-linked deafness, stapes gushers and a distinctive defect of the inner ear. Neuroradiology 1991;33:326-30.
-
(1991)
Neuroradiology
, vol.33
, pp. 326-330
-
-
Phelps, P.D.1
Reardon, W.2
Pembrey, M.3
Bellman, S.4
Luxom, L.5
-
9
-
-
0026576583
-
The basal turn of the cochlea
-
Phelps PD. The basal turn of the cochlea. Br J Radiol 1992;65:370-4.
-
(1992)
Br J Radiol
, vol.65
, pp. 370-374
-
-
Phelps, P.D.1
-
10
-
-
33746861649
-
Surgical results of cochlear implantation in malformed cochlea
-
DOI 10.1097/01.mao.0000224090.94882.b4, PII 0012949220060800000009
-
Sennaroglu L, Sarac S, Ergin T. Surgical results of cochlear implantation in malformed cochlea. Otol Neurotol 2006;27:615-23. (Pubitemid 44180472)
-
(2006)
Otology and Neurotology
, vol.27
, Issue.5
, pp. 615-623
-
-
Sennaroglu, L.1
Sarac, S.2
Ergin, T.3
-
11
-
-
66549084555
-
Novel POU3F4 mutations and clinical features of DFN3 patients with cochlear implants
-
Lee HK, Lee SH, Lee KY, et al. Novel POU3F4 mutations and clinical features of DFN3 patients with cochlear implants. Clin Genet 2009;75:572-5.
-
(2009)
Clin Genet
, vol.75
, pp. 572-575
-
-
Lee, H.K.1
Lee, S.H.2
Lee, K.Y.3
-
12
-
-
70749137672
-
Phenotype and genotype in females with POU3F4 mutations
-
Marlin S, Moizard MP, David A, et al. Phenotype and genotype in females with POU3F4 mutations. Clin Genet 2009;76:558-63.
-
(2009)
Clin Genet
, vol.76
, pp. 558-563
-
-
Marlin, S.1
Moizard, M.P.2
David, A.3
-
13
-
-
44349135326
-
The Six-Sound Test
-
Estabrooks W, Birkenshaw-Fleming L, eds. Washington, DC: AG Bell Association for the Deaf and Hard of Hearing
-
Ling D. The Six-Sound Test. In: Estabrooks W, Birkenshaw-Fleming L, eds. Songs for listening! Songs for life! Washington, DC: AG Bell Association for the Deaf and Hard of Hearing, 2003:227-9.
-
(2003)
Songs for Listening! Songs for Life!
, pp. 227-229
-
-
Ling, D.1
-
16
-
-
72949103708
-
Clinical and molecular characterizations of novel POU3F4 mutations reveal that DFN3 is due to null function of POU3F4 protein
-
Lee HK, Song MH, Kang M, et al. Clinical and molecular characterizations of novel POU3F4 mutations reveal that DFN3 is due to null function of POU3F4 protein. Physiol Genomics 2009;39:195-201.
-
(2009)
Physiol Genomics
, vol.39
, pp. 195-201
-
-
Lee, H.K.1
Song, M.H.2
Kang, M.3
-
17
-
-
10144238527
-
Identification of a hot spot for microdeletions in patients with X-linked deafness type 3 (DFN3) 900 kb proximal to the DFN3 gene POU3F4
-
de Kok YJ, Vossenaar ER, Cremers CW, et al. Identification of a hot spot for microdeletions in patients with X-linked deafness type 3 (DFN3) 900 kb proximal to the DFN3 gene POU3F4. Hum Mol Genet 1996;5:1229-35.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1229-1235
-
-
De Kok, Y.J.1
Vossenaar, E.R.2
Cremers, C.W.3
-
18
-
-
0033821529
-
Sensorineural hearing loss and Mondini dysplasia caused by a deletion at locus DFN3
-
Arellano B, Ramírez Camacho R, García Berrocal JR, Villamar M, del Castillo I, Moreno F. Sensorineural hearing loss and Mondini dysplasia caused by a deletion at locus DFN3. Arch Otolaryngol Head Neck Surg 2000;126:1065-9.
-
(2000)
Arch Otolaryngol Head Neck Surg
, vol.126
, pp. 1065-1069
-
-
Arellano, B.1
Ramírez Camacho, R.2
García Berrocal, J.R.3
Villamar, M.4
Del Castillo, I.5
Moreno, F.6
-
19
-
-
0028789040
-
A duplication/paracentric inversion associated with familial X-linked deafness (DFN3) suggests the presence of a regulatory element more than 400 kb upstream of the POU3F4 gene
-
de Kok YJ, Merkx GF, van der Maarel SM, et al. A duplication/paracentric inversion associated with familial X-linked deafness (DFN3) suggests the presence of a regulatory element more than 400 kb upstream of the POU3F4 gene. Hum Mol Genet 1995;4:2145-50.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 2145-2150
-
-
De Kok, Y.J.1
Merkx, G.F.2
Van Der Maarel, S.M.3
-
21
-
-
0031662883
-
A new mutation in the POU3F4 gene in a Japanese family with X-linked mixed deafness (DFN3)
-
DOI 10.1097/00005537-199810000-00022
-
Hagiwara H, Tamagawa Y, Kitamura K, Kodera K. A new mutation in the POU3F4 gene in a Japanese family with Xlinked mixed deafness (DFN3). Laryngoscope 1998;108:1544-7. (Pubitemid 28465255)
-
(1998)
Laryngoscope
, vol.108
, Issue.10
, pp. 1544-1547
-
-
Hagiwara, H.1
Tamagawa, Y.2
Kitamura, K.3
Kodera, K.4
-
22
-
-
8244223172
-
Molecular analysis of the POU3F4 gene in patients with clinical and radiographic evidence of X-linked mixed deafness with perilymphatic gusher
-
Friedman RA, Bykhovskaya Y, Tu G, et al. Molecular analysis of the POU3F4 gene in patients with clinical and radiographic evidence of X-linked mixed deafness with perilymphatic gusher. Ann Otol Rhinol Laryngol 1997;106:320-5. (Pubitemid 27175022)
-
(1997)
Annals of Otology, Rhinology and Laryngology
, vol.106
, Issue.4
, pp. 320-325
-
-
Bykhovskaya, Y.1
Wilson, D.F.2
Friedman, R.A.3
Tu, G.4
Farnes, L.S.5
Talbot, J.M.6
Fischel-Ghodsian, N.7
-
23
-
-
0029162426
-
Further mutations in Brain 4 (POU3F4) clarify the phenotype in the X-linked deafness, DFN3
-
Bitner-Glindzicz M, Turnpenny P, Höglund P, et al. Further mutations in Brain 4 (POU3F4) clarify the phenotype in the X-linked deafness, DFN3. Hum Mol Genet 1995;4:1467-9.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1467-1469
-
-
Bitner-Glindzicz, M.1
Turnpenny, P.2
Höglund, P.3
-
24
-
-
33745247186
-
A novel mutation of POU3F4 causes congenital profound sensorineural hearing loss in a large Chinese family
-
Wang QJ, Li QZ, Rao SQ, et al. A novel mutation of POU3F4 causes congenital profound sensorineural hearing loss in a large Chinese family. Laryngoscope 2006;116:944-50.
-
(2006)
Laryngoscope
, vol.116
, pp. 944-950
-
-
Wang, Q.J.1
Li, Q.Z.2
Rao, S.Q.3
-
25
-
-
0030768852
-
The molecular basis of X-linked deafness type 3 (DFN3) in two sporadic cases: Identification of a somatic mosaicism for a POU3F4 missense mutation
-
de Kok YJ, Cremers CW, Ropers HH, Cremers FP. The molecular basis of X-linked deafness type 3 (DFN3) in two sporadic cases: identification of a somatic mosaicism for a POU3F4 missense mutation. Hum Mutat 1997;10:207-11.
-
(1997)
Hum Mutat
, vol.10
, pp. 207-211
-
-
De Kok, Y.J.1
Cremers, C.W.2
Ropers, H.H.3
Cremers, F.P.4
-
26
-
-
0028388730
-
The brain-specific POU-box gene Brn4 is a sex-linked transcription factor located on the human and mouse X chromosomes
-
Douville PJ, Atanasoski S, Tobler A, Fontana A, Schwab ME. The brain-specific POU-box gene Brn4 is a sex-linked transcription factor located on the human and mouse X chromosomes. Mamm Genome 1994;5:180-2. (Pubitemid 2077957)
-
(1994)
Mammalian Genome
, vol.5
, Issue.3
, pp. 180-182
-
-
Douville, P.J.1
Atanasoski, S.2
Tobler, A.3
Fontana, A.4
Schwab, M.E.5
-
27
-
-
35848964818
-
Molecular characterization of a novel X-linked syndrome involving developmental delay and deafness
-
Hildebrand MS, de Silva MG, Tan TY, et al. Molecular characterization of a novel X-linked syndrome involving developmental delay and deafness. Am J Med Genet A 2007;143A:2564-75.
-
(2007)
Am J Med Genet A
, vol.143 A
, pp. 2564-2575
-
-
Hildebrand, M.S.1
De Silva, M.G.2
Tan, T.Y.3
-
28
-
-
0028935319
-
A new X-linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22
-
Tranebjærg L, Schwartz C, Eriksen H, et al. A new X-linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22. J Med Genet 1995;32:257-63.
-
(1995)
J Med Genet
, vol.32
, pp. 257-263
-
-
Tranebjærg, L.1
Schwartz, C.2
Eriksen, H.3
|