Cite

1. Cohen MM, Gorlin RJ. Epidemiology, etiology and genetic patterns. In: Gorlin RJ, Toriello HV, Cohen MM, Eds. Hereditary Hearing Loss and Its Syndromes. Oxford: Academic Press. 1995: 9-21.Search in Google Scholar

2. Schrijver I. Hereditary non-syndromic sensorineural hearing loss. Transforming silence to sound. J Molec Diagn. 2004; 6(4): 275-284.10.1016/S1525-1578(10)60522-3Search in Google Scholar

3. Petit C. From deafness genes to hearing mechanisms: harmony and counterpoint. Trends Mol Med. 2006; 12(2): 57-64.10.1016/j.molmed.2005.12.006Search in Google Scholar

4. Mese G, Londin E, Mui R, Brink PR, White TW. Altered gating properties of functional Cx26 mutants associated with recessive non-syndromic hearing loss. Hum Genet. 2004; 115(3): 191-199.10.1007/s00439-004-1142-6Search in Google Scholar

5. Rabionet R, Zelante L, Lopez-Bigas N, et al. Molecular basis of childhood deafness resulting from mutations in the GJB2 (Connexin 26) gene. Hum Genet. 2000; 106(1): 40-44.Search in Google Scholar

6. Kennenson A, Van Naarden Brown K, Boyle C. GJB2 (Connexin 26) variants and nonsyndromic sensorineural hearing loss: A HuGE review. Genet Med. 2002; 4(4): 258-274.10.1097/00125817-200207000-00004Search in Google Scholar

7. Zelante I, Gasparini P, Estivill X, et al. Connexin 26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans. Hum Mol Genet. 1997; 6(9): 1605-1609.10.1093/hmg/6.9.1605Search in Google Scholar

8. Morell RJ, Kim HJ, Hood LJ, et al. Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness. N Engl J Med. 1998; 339(21): 1500-1505.10.1056/NEJM199811193392103Search in Google Scholar

9. Abe S, Kelly PM, Kimberling WJ, Usami SI. Connexin 26 gene (GJB2) mutation modulates the severity of hearing loss associated with the 1555A>G mitochondrial mutation. Am J Med Genet. 2001; 103(4): 334-338.10.1002/1096-8628(20011101)103:4<334::AID-AJMG1574>3.0.CO;2-FSearch in Google Scholar

10. Sukarova Stefanovska E, Momirovska A, Cakar M, Efremov GD. GJB2 mutations in non syndromic hearing loss in the Republic of Macedonia. Balkan J Med Genet. 2009; 12(2): 11-17.10.2478/v10034-010-0004-xSearch in Google Scholar

11. Del Castillo I, Villamar M, Moreno-Pelayo MA, etal. A deletion involving the connexion 30 gene in nonsyndromic hearing impairment. N Engl J Med. 2002; 346(4): 243-249.10.1056/NEJMoa012052Search in Google Scholar

12. Del Castillo I, Moreno-Pelayo MA, Del Castillo FJ, et al. Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multi-center study. Am J Hum Genet. 2003; 73(6): 1452-1458.10.1086/380205Search in Google Scholar

13. Maniglia LP, Bruna Moreira CL, Menezes da Silva MA, Piatto VB, Maniglia JV. Screening of the mitochondrial A1555G mutation in patients with sensorineural hearing loss. Rev Bras Otorinolaryngol. 2008; 74(5): 731-736.10.1590/S0034-72992008000500015Search in Google Scholar

14. Bardien S, Human H, Harris T, et al. A rapid method for detection of five known mutations associated with aminoglycoside-induced deafness. BMC Med Genet. 2009; 10: 2.10.1186/1471-2350-10-2263092019144107Search in Google Scholar

ISSN:
1311-0160
Language:
English
Publication timeframe:
2 times per year
Journal Subjects:
Medicine, Basic Medical Science, other