-
1
-
-
11444266011
-
A combined allele-specific PCR and RFLP assay to detect the 35delG mutation in the Connexin 26 gene
-
Baris I, Koksal V, Etlik O (2004) A combined allele-specific PCR and RFLP assay to detect the 35delG mutation in the Connexin 26 gene. Genet Test 8:384-386.
-
(2004)
Genet Test
, vol.8
, pp. 384-386
-
-
Baris, I.1
Koksal, V.2
Etlik, O.3
-
2
-
-
12144287717
-
A genotype-phenotype correlation for GJB2 (connexin 26) deafness
-
Cryns K, Orzan E, Murgia A, Huygen PL, Moreno F, del Castillo I, Chamberlin GP, Azaiez H, Prasad S, Cucci RA, Leonardi E, Snoeckx RL, Govaerts PJ, Van de Heyning PH, Van de Heyning CM, Smith RJ, Van Camp G (2004) A genotype-phenotype correlation for GJB2 (connexin 26) deafness. J Med Genet 41:147-154.
-
(2004)
J Med Genet
, vol.41
, pp. 147-154
-
-
Cryns, K.1
Orzan, E.2
Murgia, A.3
Huygen, P.L.4
Moreno, F.5
del Castillo, I.6
Chamberlin, G.P.7
Azaiez, H.8
Prasad, S.9
Cucci, R.A.10
Leonardi, E.11
Snoeckx, R.L.12
Govaerts, P.J.13
Van de Heyning, P.H.14
Van de Heyning, C.M.15
Smith, R.J.16
Van Camp, G.17
-
3
-
-
0034973378
-
Nonradioactive detection of the common Connexin 26 167delT and 35delG mutations and frequencies among Ashkenazi Jews
-
Dong J, Katz DR, Eng CM, Kornreich R, Desnick RJ (2001) Nonradioactive detection of the common Connexin 26 167delT and 35delG mutations and frequencies among Ashkenazi Jews. Mol Genet Metab 73:160-163.
-
(2001)
Mol Genet Metab
, vol.73
, pp. 160-163
-
-
Dong, J.1
Katz, D.R.2
Eng, C.M.3
Kornreich, R.4
Desnick, R.J.5
-
4
-
-
0032492217
-
Connexin-26 mutations in sporadic and inherited sensorineural deafness
-
Estivill X, Fortina P, Surrey S, Rabionet R, Melchionda S, D'Agruma L, Mansfield E, Rappaport E, Govea N, Mila M, Zelante L, Gasparini P (1998) Connexin-26 mutations in sporadic and inherited sensorineural deafness. Lancet 351:394-398.
-
(1998)
Lancet
, vol.351
, pp. 394-398
-
-
Estivill, X.1
Fortina, P.2
Surrey, S.3
Rabionet, R.4
Melchionda, S.5
D'Agruma, L.6
Mansfield, E.7
Rappaport, E.8
Govea, N.9
Mila, M.10
Zelante, L.11
Gasparini, P.12
-
6
-
-
0343527349
-
Connexins, hearing and deafness: Clinical aspects of mutations in the connexin 26 gene
-
Lefebvre PP, Van De Water TR (2000) Connexins, hearing and deafness: clinical aspects of mutations in the connexin 26 gene. Brain Res Brain Res Rev 32:159-162.
-
(2000)
Brain Res Brain Res Rev
, vol.32
, pp. 159-162
-
-
Lefebvre, P.P.1
Van De Water, T.R.2
-
7
-
-
0034961001
-
Assessment of denaturing high-performance liquid chromatography (DHPLC) in screening for mutations in connexin 26 (GJB2)
-
Lin D, Goldstein JA, Mhatre AN, Lustig LR, Pfister M, Lalwani AK (2001) Assessment of denaturing high-performance liquid chromatography (DHPLC) in screening for mutations in connexin 26 (GJB2). Hum Mutat 18:42-51.
-
(2001)
Hum Mutat
, vol.18
, pp. 42-51
-
-
Lin, D.1
Goldstein, J.A.2
Mhatre, A.N.3
Lustig, L.R.4
Pfister, M.5
Lalwani, A.K.6
-
8
-
-
0032727332
-
Cx26 deafness: Mutation analysis and clinical variability
-
Murgia A, Orzan E, Polli R, Martella M, Vinanzi C, Leonardi E, Arslan E, Zacchello F (1999) Cx26 deafness: mutation analysis and clinical variability. J Med Genet 36:829-832.
-
(1999)
J Med Genet
, vol.36
, pp. 829-832
-
-
Murgia, A.1
Orzan, E.2
Polli, R.3
Martella, M.4
Vinanzi, C.5
Leonardi, E.6
Arslan, E.7
Zacchello, F.8
-
9
-
-
28144444402
-
GJB2 mutations and degree of hearing loss: A multicenter study
-
Snoeckx RL, Huygen PL, Feldmann D, Marlin S, Denoyelle F, Waligora J, Mueller-Malesinska M, et al. (2005) GJB2 mutations and degree of hearing loss: a multicenter study. Am J Hum Genet 77:945-957.
-
(2005)
Am J Hum Genet
, vol.77
, pp. 945-957
-
-
Snoeckx, R.L.1
Huygen, P.L.2
Feldmann, D.3
Marlin, S.4
Denoyelle, F.5
Waligora, J.6
Mueller-Malesinska, M.7
-
10
-
-
0032840844
-
Determination of the carrier frequency of the common GJB2 (connexin-26) 35delG mutation in the Belgian population using an easy and reliable screening method
-
Storm K, Willocx S, Flothmann K, Van Camp G (1999) Determination of the carrier frequency of the common GJB2 (connexin-26) 35delG mutation in the Belgian population using an easy and reliable screening method. Hum Mutat 14:263-266.
-
(1999)
Hum Mutat
, vol.14
, pp. 263-266
-
-
Storm, K.1
Willocx, S.2
Flothmann, K.3
Van Camp, G.4
-
11
-
-
0034881345
-
A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment
-
Van Laer L, Coucke P, Mueller RF, Caethoven G, Flothmann K, Prasad SD, Chamberlin GP, Houseman M, Taylor GR, Van de Heyning CM, Fransen E, Rowland J, Cucci RA, Smith RJ, Van Camp G (2001) A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment. J Med Genet 38:515-518.
-
(2001)
J Med Genet
, vol.38
, pp. 515-518
-
-
Van Laer, L.1
Coucke, P.2
Mueller, R.F.3
Caethoven, G.4
Flothmann, K.5
Prasad, S.D.6
Chamberlin, G.P.7
Houseman, M.8
Taylor, G.R.9
Van de Heyning, C.M.10
Fransen, E.11
Rowland, J.12
Cucci, R.A.13
Smith, R.J.14
Van Camp, G.15
-
12
-
-
0042694853
-
Use of a multiplex PCR/sequencing strategy to detect both connexin 30 (GJB6) 342 kb deletion and connexin 26 (GJB2) mutations in cases of childhood deafness
-
Wu BL, Kenna M, Lip V, Irons M, Platt O (2003) Use of a multiplex PCR/sequencing strategy to detect both connexin 30 (GJB6) 342 kb deletion and connexin 26 (GJB2) mutations in cases of childhood deafness. Am J Med Genet A 121:102-108.
-
(2003)
Am J Med Genet A
, vol.121
, pp. 102-108
-
-
Wu, B.L.1
Kenna, M.2
Lip, V.3
Irons, M.4
Platt, O.5
|