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Volumn 86, Issue 4, 2007, Pages 299-313

Non-syndromic hereditary hearing impairment;Nicht-syndromale hereditäre schwerhörigkeiten

Author keywords

Connexin 26 (GJB2); Deafness; DFNA; DFNB; Gene identification and characterisation; Mutation analysis; Non syndromic hearing impairment

Indexed keywords

CONNEXIN 26; GAP JUNCTION PROTEIN;

EID: 34247602924     PISSN: 09358943     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2007-966309     Document Type: Review
Times cited : (18)

References (14)
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  • 3
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    • Mazzoli M, van Camp G, Newton V, Giarbini N, Declau F, Paving A. Recommendations for the Description of Genetic and Audiological data for Families with Nonsyndromic Hereditary Hearing Impairment. Audiological Medicine 2004; 1: 148-150
    • Mazzoli M, van Camp G, Newton V, Giarbini N, Declau F, Paving A. Recommendations for the Description of Genetic and Audiological data for Families with Nonsyndromic Hereditary Hearing Impairment. Audiological Medicine 2004; 1: 148-150
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    • Wain HM, Lush MJ, Ducluzeau F, Khodiyar VK, Povey S. Gen new: the Human Gene Nomenclature Database, 2004 updates. Nucleic Acids Res 2004; 32 (Database issue): D255-257
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    • Wong KK, Tsang YT, Shen J, Cheng RS, Chang YM, Man TK, Lau CC. Allelic imbalance analysis by high-density single-nucleotide polymorphic allele (SNP) array with whole genome amplified DNA. Nucleic Acids Res 2004; 17, 32 (9): e69
    • Wong KK, Tsang YT, Shen J, Cheng RS, Chang YM, Man TK, Lau CC. Allelic imbalance analysis by high-density single-nucleotide polymorphic allele (SNP) array with whole genome amplified DNA. Nucleic Acids Res 2004; 17, 32 (9): e69
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    • Del Castillo FJ, Rodriguez-Ballesteros M, Alvarez A, Hutchin T, Leonardi E, de Oliveira CA, Azaiez H, Brownstein Z, Avenarius MR, Marlin S, Pandya A, Shahin H, Siemering KR, Weil D, Wuyts W, Aguirre LA, Martin Y, Moreno-Pelayo MA, Villamar M, Avraham KB, Dahl HH, Kanaan M, Nance WE, Petit C, Smith RJ, van Camp G, Sartorato EL, Murgia A, Moreno F, del Castillo I. A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment. J Med Genet 2005; 42 (7): 588-594
    • Del Castillo FJ, Rodriguez-Ballesteros M, Alvarez A, Hutchin T, Leonardi E, de Oliveira CA, Azaiez H, Brownstein Z, Avenarius MR, Marlin S, Pandya A, Shahin H, Siemering KR, Weil D, Wuyts W, Aguirre LA, Martin Y, Moreno-Pelayo MA, Villamar M, Avraham KB, Dahl HH, Kanaan M, Nance WE, Petit C, Smith RJ, van Camp G, Sartorato EL, Murgia A, Moreno F, del Castillo I. A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment. J Med Genet 2005; 42 (7): 588-594
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    • Snoeckx RL, Huygen PL, Feldmann D, Marlin S, Denoyelle F, Waligora J, Mueller-Malesinska M, Pollak A, Ploski R, Murgia A, Orzan E, Castorina P, Ambrosetti U, Nowakowska-Szyrwinska E, Bal J, Wiszniewski W, Janecke AR, Nekahm-Heis D, Seeman P, Bendova O, Kenna MA, Frangulov A, Rehm HL, Tekin M, Incesulu A, Dahl HH, du Sort D, Jenkins L, Lucas D, Bitner-Glindzicz M, Avraham KB, Brownstein Z, del Castillo I, Moreno F, Blin N, Pfister M, Sziklai I, Toth T, Kelley PM, Cohn ES, van Maldergem L, Hilbert P, Roux AF, Mondain M, Hoefsloot LH, Cremers ON, Lopponen T, Lopponen H, Parving A, Gronskov K, Schrijver I, Roberson J, Gualandi F, Martini A, Lina-Granade G, Pallares-Ruiz N, Correia C, Fialho G, Cryns K, Hilgert N, van de Heyning P, Nishimura CJ, Smith RJ, van Camp G. GJB2 mutations and degree of hearing loss: a multicenter study. Am J Hum Genet 2005; 77 6, 945-957
    • Snoeckx RL, Huygen PL, Feldmann D, Marlin S, Denoyelle F, Waligora J, Mueller-Malesinska M, Pollak A, Ploski R, Murgia A, Orzan E, Castorina P, Ambrosetti U, Nowakowska-Szyrwinska E, Bal J, Wiszniewski W, Janecke AR, Nekahm-Heis D, Seeman P, Bendova O, Kenna MA, Frangulov A, Rehm HL, Tekin M, Incesulu A, Dahl HH, du Sort D, Jenkins L, Lucas D, Bitner-Glindzicz M, Avraham KB, Brownstein Z, del Castillo I, Moreno F, Blin N, Pfister M, Sziklai I, Toth T, Kelley PM, Cohn ES, van Maldergem L, Hilbert P, Roux AF, Mondain M, Hoefsloot LH, Cremers ON, Lopponen T, Lopponen H, Parving A, Gronskov K, Schrijver I, Roberson J, Gualandi F, Martini A, Lina-Granade G, Pallares-Ruiz N, Correia C, Fialho G, Cryns K, Hilgert N, van de Heyning P, Nishimura CJ, Smith RJ, van Camp G. GJB2 mutations and degree of hearing loss: a multicenter study. Am J Hum Genet 2005; 77 (6): 945-957


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