GJB2 Mutations in Non Syndromic Hearing Loss in the Republic of Macedonia
By: E Stefanovska, A Momirovska, M Cakar and G Efremov
Open Access
|Feb 2010References
- Van Camp G, Willems PJ, Smith RJH. Nonsyndromic hearing impairment: unparalleled heterogeneity.1997; 60(4): 758-764.
- OMIM - Online Mendelian Inheritance in Man (
- Van Camp G, Smith RJH. Hereditary Hearing Loss Homepage (
- Zelante I, Gasparini P, Estivill X, Melchionda S, D'Arguma L, Govea N, Mila M, Monica MDS, Lutfi J, Shohat M, Mansfield E, Delgrosso K, Rappaport E, Surrey S, Fortina P. Connexin 26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans.1997; 6(9): 1605-1609.
- Kennerson A, Van Naarden Brown K, Boyle C. GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: A HuGE review.2002; 4(4): 258-274.
- Kelley PM, Abe S, Askew JW, Smith SD, Usami S, Kimberling WJ. Human connexin 30 (GJB6), a candidate gene for non-syndromic hearing loss: Molecular cloning, tissue-specific expression, and assignment to chromosome 13q12.1999; 62(2): 172-176.
- del Castillio I, Villamar M, Moreno-Pelayo MA, del Catillio FJ, Alvarez A, Telleria D, Menendez I, Moreno F. A deletion involving the connexin 30 gene in nonsyndromic hearing impairment.2002; 346(4): 243-249.
- Efremov GD, Dimovski A, Efremov DG, Plaseska D, Jankovic L, Petreska L, Sukarova E, Koceva S. Recombinant DNA technology, A Laboratory Mannual. Skopje: ICGEB, MASA, 1992.
- Storm K, Willocx S, Flothmann K, van Camp G. Determination of the carrier frequency of the common GJB2 (connexin-26) 35delG mutation in the Belgian population using an easy and reliable screening method.1999; 14(3): 263-266.
- Stinckens C, Kremer H, Van Wijk E, Hoefsloot LH, Huygen PL, Standaert L, Fryns JP, Cremers CW. Longitudinal phenotypic analysis in patients with connexin 26 (GJB2) (DFNB1) and Connexin 30 (GJB6) mutations.2004; 113(7): 587-593.
- Kelsell DP, Dunlop J, Stevens HP, Lench NJ, Liang JN, Parry G, Mueller RF, Leigh IM. Connexin 26 mutations in hereditary non-syndromic sensory-neural deafness.1997; 387(6628): 80-83.
- Minarik G, Ferak V, Ferakova E, Ficek A, Polakova H, Kadasi L. High frequency of GJB2 mutation W24X among Slovak Romany (Gypsy) patients with non-syndromic hearing loss (NSHL).2003; 22(4): 549-556.
- Alvarez A, del Castillio I, Villamar M, Aguirre LA, Gonzalez-Neira A, Lopez-Nevot A, Moreno-Pelayo MA, Moreno F. High prevalence of the W24X mutation in the gene encoding connexin-26 (GJB2) in Spanish Romani (Gypsies) with autosomal recesive non-syndromic hearing loss.2005; 137A(3): 255-258.
DOI: https://doi.org/10.2478/v10034-010-0004-x | Journal eISSN: 2199-5761 (formerly 1311-0160) | Journal ISSN: 1311-0160
Language: English
Page range: 11 - 16
Published on: Feb 19, 2010
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Keywords:
Related subjects:
© 2010 E Stefanovska, A Momirovska, M Cakar, G Efremov, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons License.