-
1
-
-
0034013087
-
Prevalent connexin 26 gene (GJB2) mutations in Japanese
-
Abe S, Usami S, Shinkawa H, Kelley PM, Kimberling WJ (2000) Prevalent connexin 26 gene (GJB2) mutations in Japanese. J Med Genet 37:41-43
-
(2000)
J Med Genet
, vol.37
, pp. 41-43
-
-
Abe, S.1
Usami, S.2
Shinkawa, H.3
Kelley, P.M.4
Kimberling, W.J.5
-
2
-
-
0030696315
-
Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: Implications for genetic studies in isolated populations
-
Carrasquillo MM, Zlotogora J, Barges S, Chakravarti A (997) Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: Implications for genetic studies in isolated populations. Hum Mol Genet 6:2163-2172
-
(1997)
Hum Mol Genet
, vol.6
, pp. 2163-2172
-
-
Carrasquillo, M.M.1
Zlotogora, J.2
Barges, S.3
Chakravarti, A.4
-
3
-
-
0033600946
-
Clinical phenotype and mutations in connexin 26 (DFNB1/GJB2), the most common cause of childhood hearing loss
-
Cohn ES, Kelley PM (1999) Clinical phenotype and mutations in connexin 26 (DFNB1/GJB2), the most common cause of childhood hearing loss. Am J Med Genet 89:130-136
-
(1999)
Am J Med Genet
, vol.89
, pp. 130-136
-
-
Cohn, E.S.1
Kelley, P.M.2
-
4
-
-
9844252338
-
Prelingual deafness: High prevalence of a 30delG mutation in the connexin 26 gene
-
Denoyelle F, Weil D, Maw MA, Wilcox SA, Lench NJ, Allen-Powell DR, Osborn AH, Dahl HH, Middleton A, Houseman MJ, Dode C, Marlin S, Boulila-ElGaied A, Grati M, Ayadi H, BenArab S, Bitoun P, Lina-Granade G, Godet J, Mustapha M, Loiiselet J, El-Zir E, Aubois A, Joannard A, Petit C (1997) Prelingual deafness: High prevalence of a 30delG mutation in the connexin 26 gene. Hum Mol Genet 6:2173-2177
-
(1997)
Hum Mol Genet
, vol.6
, pp. 2173-2177
-
-
Denoyelle, F.1
Weil, D.2
Maw, M.A.3
Wilcox, S.A.4
Lench, N.J.5
Allen-Powell, D.R.6
Osborn, A.H.7
Dahl, H.H.8
Middleton, A.9
Houseman, M.J.10
Dode, C.11
Marlin, S.12
Boulila-ElGaied, A.13
Grati, M.14
Ayadi, H.15
BenArab, S.16
Bitoun, P.17
Lina-Granade, G.18
Godet, J.19
Mustapha, M.20
Loiselet, J.21
El-Zir, E.22
Aubois, A.23
Joannard, A.24
Petit, C.25
more..
-
5
-
-
0032575085
-
Connexin 26 gene linked to a dominant deafness
-
Denoyelle F, Lina-Granade G, Plauchu H, Bruzzone R, Chaib H, Levi-Acobas F, Weil D, Petit C (1998) Connexin 26 gene linked to a dominant deafness. Nature 393:319-320
-
(1998)
Nature
, vol.393
, pp. 319-320
-
-
Denoyelle, F.1
Lina-Granade, G.2
Plauchu, H.3
Bruzzone, R.4
Chaib, H.5
Levi-Acobas, F.6
Weil, D.7
Petit, C.8
-
6
-
-
0033577528
-
Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: Implications for genetic counseling
-
Denoyelle F, Marlin W, Weil D, Moatti L, Chauvin P, Garabedian EN, Petit C (1999) Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: Implications for genetic counseling. Lancet 353:1298-1303
-
(1999)
Lancet
, vol.353
, pp. 1298-1303
-
-
Denoyelle, F.1
Marlin, W.2
Weil, D.3
Moatti, L.4
Chauvin, P.5
Garabedian, E.N.6
Petit, C.7
-
7
-
-
0032492217
-
Connexin-26 mutations in sporadic and inherited sensorineural deafness
-
Estivill X, Fortina P, Surrey S, Rabionet R, Melchiondra 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
Melchiondra, S.5
D'Agruma, L.6
Mansfield, E.7
Rappaport, E.8
Govea, N.9
Mila, M.10
Zelante, L.11
Gasparini, P.12
-
8
-
-
0033597554
-
Three novel connexin26 gene mutations in autosomal recessive non-syndromic deafness
-
Fuse Y, Doi K, Hasegawa T, Sujii A, Hibino H, Kubo T (1999) Three novel connexin 26 gene mutations in autosomal recessive non-syndromic deafness. NeuroReport 10:1853-1857
-
(1999)
NeuroReport
, vol.10
, pp. 1853-1857
-
-
Fuse, Y.1
Doi, K.2
Hasegawa, T.3
Sujii, A.4
Hibino, H.5
Kubo, T.6
-
9
-
-
12644276408
-
Linkage of DFNB1 to non-syndromic neurosensory autosomal-recessive deafness in Meditarrean families
-
Gasparini P, Estivill X, Volpini V, Totaro A, Castellvi-Bel S, Govea N, Mila M, Della Monica M, Ventruto V, De Benedetto M, Stanziale P, Zelante L, Mansfield ES, Sandkuijl L, Surrey S, Fortina P (1997) Linkage of DFNB1 to non-syndromic neurosensory autosomal-recessive deafness in Meditarrean families. Eur J Hum Genet 5:83-88
-
(1997)
Eur J Hum Genet
, vol.5
, pp. 83-88
-
-
Gasparini, P.1
Estivill, X.2
Volpini, V.3
Totaro, A.4
Castellvi-Bel, S.5
Govea, N.6
Mila, M.7
Della Monica, M.8
Ventruto, V.9
De Benedetto, M.10
Stanziale, P.11
Zelante, L.12
Mansfield, E.S.13
Sandkuijl, L.14
Surrey, S.15
Fortina, P.16
-
10
-
-
0033575109
-
Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness
-
Green GE, Scott DA, McDonald JM, Woodworth GG, Sheffield VC, Smith RJ (1999) Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness. JAMA 281:2211-2216
-
(1999)
JAMA
, vol.281
, pp. 2211-2216
-
-
Green, G.E.1
Scott, D.A.2
McDonald, J.M.3
Woodworth, G.G.4
Sheffield, V.C.5
Smith, R.J.6
-
12
-
-
0031949442
-
Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss
-
Kelley PM, Harris DJ, Comer BC, Askew JW, Fowler T, Smith SD, Kimberling WJ (1998) Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss. Am J Hum Genet 4:792-799
-
(1998)
Am J Hum Genet
, vol.4
, pp. 792-799
-
-
Kelley, P.M.1
Harris, D.J.2
Comer, B.C.3
Askew, J.W.4
Fowler, T.5
Smith, S.D.6
Kimberling, W.J.7
-
13
-
-
0031007349
-
Connexin 26 mutations in hereditary non-syndromic sensorineural deafness
-
Kelsell DP, Dunlop J, Stevens HP, Lench NJ, Liang JN, Parry G, Mueller RF, Leigh IM (1997) Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. Nature 387:80-83
-
(1997)
Nature
, vol.387
, pp. 80-83
-
-
Kelsell, D.P.1
Dunlop, J.2
Stevens, H.P.3
Lench, N.J.4
Liang, J.N.5
Parry, G.6
Mueller, R.F.7
Leigh, I.M.8
-
14
-
-
0034022965
-
Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family
-
Kelsell DP, Wilgoss AL, Richard G, Stevens HP, Munro CS, Leigh IM (2000) Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family. Eur J Hum Genet 8:141-144
-
(2000)
Eur J Hum Genet
, vol.8
, pp. 141-144
-
-
Kelsell, D.P.1
Wilgoss, A.L.2
Richard, G.3
Stevens, H.P.4
Munro, C.S.5
Leigh, I.M.6
-
15
-
-
0028843286
-
Gap junctions in the rat cochlea: Immunohistochemical and ultrastructural analysis
-
Kikuchi T, Kimura RS, Paul DL, Adams JC (1995) Gap junctions in the rat cochlea: Immunohistochemical and ultrastructural analysis. Anat Embryol 191:101-118
-
(1995)
Anat Embryol
, vol.191
, pp. 101-118
-
-
Kikuchi, T.1
Kimura, R.S.2
Paul, D.L.3
Adams, J.C.4
-
17
-
-
0032715880
-
Developmental expression patterns of connexin 26 and -30 in the rat cochlea
-
Lautermann J, Frank HG, Jahnke K, Traub O, Winterhager E (1999) Developmental expression patterns of connexin 26 and -30 in the rat cochlea. Dev Genet 25:306-311
-
(1999)
Dev Genet
, vol.25
, pp. 306-311
-
-
Lautermann, J.1
Frank, H.G.2
Jahnke, K.3
Traub, O.4
Winterhager, E.5
-
18
-
-
0034614011
-
Contribution of connexin 26 mutations to nonsyndromic deafness in Ashkenazi patients and the variable phenotypic effect of the mutation 167delT
-
Lerer I, Sagi M, Malamud E, Levi H, Raas-Rothschild A, Abeliovich D (2000) Contribution of connexin 26 mutations to nonsyndromic deafness in Ashkenazi patients and the variable phenotypic effect of the mutation 167delT. Am J Med Genet 95:53-56
-
(2000)
Am J Med Genet
, vol.95
, pp. 53-56
-
-
Lerer, I.1
Sagi, M.2
Malamud, E.3
Levi, H.4
Raas-Rothschild, A.5
Abeliovich, D.6
-
19
-
-
0032790899
-
A missense mutation in connexin 26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families
-
Maestrini E, Korge BP, Ocana-Sierra J, Calzolari E, Cambiaghi S, Scudder PM, Hovnanian A, Monaco AP, Munro CS (1999) A missense mutation in connexin 26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families. Hum Mol Genet 7:1237-1243
-
(1999)
Hum Mol Genet
, vol.7
, pp. 1237-1243
-
-
Maestrini, E.1
Korge, B.P.2
Ocana-Sierra, J.3
Calzolari, E.4
Cambiaghi, S.5
Scudder, P.M.6
Hovnanian, A.7
Monaco, A.P.8
Munro, C.S.9
-
20
-
-
3643059295
-
Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness
-
Morell RJ, Kim HJ, Hood LJ, Goforth L, Friderici K, Fisher R, Van Camp G, Berlin CI, Oddoux C, Ostrer H, Keats B, Friedman TB (1998) Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness. N Engl J Med 339:1500-1505
-
(1998)
N Engl J Med
, vol.339
, pp. 1500-1505
-
-
Morell, R.J.1
Kim, H.J.2
Hood, L.J.3
Goforth, L.4
Friderici, K.5
Fisher, R.6
Van Camp, G.7
Berlin, C.I.8
Oddoux, C.9
Ostrer, H.10
Keats, B.11
Friedman, T.B.12
-
21
-
-
0027494118
-
Hearing loss
-
Nadol JB Jr (1993) Hearing loss. N Engl J Med 329:1092-1102
-
(1993)
N Engl J Med
, vol.329
, pp. 1092-1102
-
-
Nadol J.B., Jr.1
-
23
-
-
0012381328
-
Evidence that connexin 26 35delG does not represent a mutational hotspot
-
Rothrock CR, Murgia A, Leonardi E, Sartorato E, Bean L, Fisher R, Elfenbein J, Friderici K (2001) Evidence that connexin 26 35delG does not represent a mutational hotspot. Am J Hum Genet 69 (Suppl):495
-
(2001)
Am J Hum Genet
, vol.69
, Issue.SUPPL.
, pp. 495
-
-
Rothrock, C.R.1
Murgia, A.2
Leonardi, E.3
Sartorato, E.4
Bean, L.5
Fisher, R.6
Elfenbein, J.7
Friderici, K.8
-
24
-
-
0012466555
-
The prevalence of connexin 26 mutations among the Palestinian deaf population
-
M.Sc. Thesis, Tel Aviv University
-
Shahin H (2000) The prevalence of connexin 26 mutations among the Palestinian deaf population. M.Sc. Thesis, Tel Aviv University
-
(2000)
-
-
Shahin, H.1
-
25
-
-
0033615567
-
High frequency of the deafness-associated 167TdelT mutation in the connexin 26 (GJB2) gene in Israeli Ashkenazim
-
Sobe T, Erlich P, Berry A, Korostichevsky M, Vreugde S, Avraham KB, Bonne-Tamir B, Shohat M (1999) High frequency of the deafness-associated 167TdelT mutation in the connexin 26 (GJB2) gene in Israeli Ashkenazim. Am J Med Genet 86:499-500
-
(1999)
Am J Med Genet
, vol.86
, pp. 499-500
-
-
Sobe, T.1
Erlich, P.2
Berry, A.3
Korostichevsky, M.4
Vreugde, S.5
Avraham, K.B.6
Bonne-Tamir, B.7
Shohat, M.8
-
26
-
-
0034019466
-
The prevalence of expression of inherited connexin 26 mutations associated with nonsyndromic hearing loss in the Israeli population
-
Sobe T, Vreugde S, Shahin H, Davis N, Berlin M, Kanaan M, Yaron Y, Orr-Urtreger A, Frydman M, Shohat M, Avraham KB (2000) The prevalence of expression of inherited connexin 26 mutations associated with nonsyndromic hearing loss in the Israeli population. Hum Genet 106:50-57
-
(2000)
Hum Genet
, vol.106
, pp. 50-57
-
-
Sobe, T.1
Vreugde, S.2
Shahin, H.3
Davis, N.4
Berlin, M.5
Kanaan, M.6
Yaron, Y.7
Orr-Urtreger, A.8
Frydman, M.9
Shohat, M.10
Avraham, K.B.11
-
27
-
-
0012470840
-
-
Van Camp G, Smith RJH (2001) Hereditary hearing loss homepage, http://dnalab-www.uia.ac.be/dnalab/hhh.html
-
(2001)
-
-
Van Camp, G.1
Smith, R.J.H.2
-
28
-
-
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
-
29
-
-
9844245885
-
Connexin 26 mutations associated with the most common from of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans
-
Zelante L, Gasparini P, Estivill X, Melchionda S, D'Agruma L, Govea N, Mila M, Monica MD, Lufti J, Shohat M, Mansfield E, Delgrosso K, Rappaport E, Surrey S, Fortina P (1997) Connexin 26 mutations associated with the most common from of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans. Hum Mol Genet 6:1605-1609
-
(1997)
Hum Mol Genet
, vol.6
, pp. 1605-1609
-
-
Zelante, L.1
Gasparini, P.2
Estivill, X.3
Melchionda, S.4
D'Agruma, L.5
Govea, N.6
Mila, M.7
Monica, M.D.8
Lufti, J.9
Shohat, M.10
Mansfield, E.11
Delgrosso, K.12
Rappaport, E.13
Surrey, S.14
Fortina, P.15
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