1. |
Yang M, Tan H, Yang Q, et al. Association of hsp70 polymorphisms with risk of noise-induced hearing loss in Chinese automobile workers. Cell Stress Chaperones 2006; 11: 233-9.
|
2. |
Konings A, Van Laer L, Michel S, et al. Variations in HSP70 genes associated with noise-induced hearing loss in two independent populations. Eur J Hum Genet 2008; 17: 329-35.
|
3. |
Jackler RK, Luxford WM, House WF. Congenital malforma- tions of the inner ear: a classification based on embryo- genesis. Laryngoscope 1987; 97: 2-14.
|
4. |
Chen J, Streit A. Induction of the inner ear: stepwise specification of otic fate from multipotent progenitors. Hear Res 2013; 297: 3-12.
|
5. |
Bilgin H, Kasemsuwan L, Schachern PA, et al. Temporal bone study of Down's syndrome. Arch Otolaryngol Head Neck Surg 1996; 122: 271-5.
|
6. |
Shah RK, Blevins NH, Karmody CS. Mid-frequency sensorineural hearing loss: aetiology and prognosis. J Laryngol Otol 2005; 119: 529-33.
|
7. |
Bayazit YA, Yilmaz M. An overview of hereditary hearing loss. ORL J Otorhinolaryngol Relat Spec 2006; 68:57-63.
|
8. |
Reddy MV, Sathyanarayana VV, Sailakshmi V, et al. An epidemiological study on children with syndromic hearing loss. Indian J Otolaryngol Head Neck Surg 2004; 56: 208-12.
|
9. |
Smith RJH, Van Camp G. Nonsyndromic hearing loss and deafness, DFNB1. In Pagon RA, Adam MP, Ardinger HH, et al, eds. GeneReviews [Internet]. Seattle: University of Washington, Seattle14.
|
10 |
Petersen MB, Willems PJ. Non-syndromic, autosomal- recessive deafness. Clin Genet 2006; 69: 371-92.
|
11 |
Zelante L, Gasparini P, Estivill X, et al. Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans. Hum Mol Genet 1997; 6: 1605-9.
|
12 |
Estivill X, Fortina P, Surrey S, et al. Connexin-26 mutations in sporadic and inherited sensorineural dea- fness. Lancet 1998; 351: 394-8.
|
13 |
Kelley PM, Harris DJ, Comer BC, et al. Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss. Am J Hum Genet 1998; 62: 792-9.
|
14 |
Friedman TB, Schultz JM, Ahmed ZM, et al. Usher syndrome: hearing loss with vision loss. Adv Otorhino- laryngol 2011; 70: 56-65.
|
15 |
Blanco-Kelly F, Jaijo T, Aller E, et al. Clinical aspects of Usher syndrome and the USH2A gene in a cohort of 433 patients. JAMA Ophthalmol 2015; 133: 157-64.
|
16 |
Yazdanpanahi N, Tabatabaiefar MA, Bagheri N, et al. The role and spectrum of SLC26A4 mutations in Iranian patients with autosomal recessive hereditary deafness. Int J Audiol 2015; 54: 124-30.
|
17 |
Yang WP, Levesque PC, Little WA, et al. KvLQT1, a voltage-gated potassium channel responsible for human cardiac arrhythmias. Proc Natl Acad Sci U S A 1997; 94: 4017-21.
|
18 |
Al-Aama JY, Al-Ghamdi S, Bdier AY, et al. De novo mutation in the KCNQ1 gene causal to Jervell and Lange-Nielsen syndrome. Clin Genet 2014; 86: 492-5.
|
19 |
Scholtz AW, Fish JH 3rd, Kammen-Jolly K, et al. Goldendar's syndrome: congenital hearing deficit of conductive or sensorineural origin? Temporal bone histopathologic study. Otol Neurotol 2001; 22: 501-5.
|
20 |
Chafai Elalaoui S, Cherkaoui Jaouad I, Rifai L, et al. Autosomal dominant microtia. Eur J Med Genet 2010; 53: 100-3.
|
21 |
Robertson NG, Lu L, Heller S, et al. Mutations in a novel cochlear gene cause DNFA9, a human nonsyndromic deafness with vestibular dysfunction. Nat Genet 1998; 20: 299-303.
|
22 |
Otręba M, Miliński M, Buszman E, et al. Hereditary hypomelanocytoses: the role of PAX3, SOX10, MITF, SNAI2, KIT, EDN3 and EDNRB genes. Postepy Hig Med Dosw (Online) 2013; 67: 1109-18.
|
23 |
Vervoort VS, Smith RJ, O’Brien J, et al. Genomic rearrangements of EYA1 account for a large fraction of families with BOR syndrome. Eur J Hum Genet 2002; 10: 757-66.
|
24 |
Ruf RG, Xu PX, Silvius D, et al. SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1- DNA complexes. Proc Natl Acad Sci U S A 2004; 101: 8090-5.
|
25 |
Hoskins BE, Cramer CH, Silvius D, et al. Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome. Am J Hum Genet 2007; 80: 800-4.
|