-
1
-
-
0034013087
-
Prevalent connexin 26 gene (GJB2) mutations in Japanese
-
Abe S, Usami S-I, 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.-I.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 (1997) 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 H-HM, 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, Loiselet J, El-Zir E, Aubois A, Joannard A, Levilliers J, Garabedian E-N, Mueller RF, Gardner RJM, 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.M.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
Levilliers, J.25
Garabedian, E.-N.26
Mueller, R.F.27
Gardner, R.J.M.28
Petit, C.29
more..
-
5
-
-
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
-
-
0033597554
-
Three novel connexin26 gene mutations in autosomal recessive non-syndromic deafness
-
Fuse Y, Doi K, Hasegawa T, Sugii A, Hibina H, Kubo T (1999) Three novel connexin26 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
Sugii, A.4
Hibina, H.5
Kubo, T.6
-
7
-
-
17544402026
-
High carrier frequency of the 35delG deafness mutation in European populations. Genetic Analysis Consortium of GJB2 35delG
-
Gasparini P, Rabionet R, Barbujani G, Melchionda S, Petersen M, Brondum-Nielsen K, Metspalu A, Oitmaa E, Pisano M, Fortina P, Zelante L, Estivill X (2000) High carrier frequency of the 35delG deafness mutation in European populations. Genetic Analysis Consortium of GJB2 35delG. Eur J Hum Genet 8: 19-23
-
(2000)
Eur J Hum Genet
, vol.8
, pp. 19-23
-
-
Gasparini, P.1
Rabionet, R.2
Barbujani, G.3
Melchionda, S.4
Petersen, M.5
Brondum-Nielsen, K.6
Metspalu, A.7
Oitmaa, E.8
Pisano, M.9
Fortina, P.10
Zelante, L.11
Estivill, X.12
-
8
-
-
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 RJH (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.H.6
-
9
-
-
0035232752
-
Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana
-
Hamelmann C, Amedofu GK, Albrecht K, Muntau B, Gelhaus A, Brobby GW, Horstmann RD (2001) Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana. Hum Mut 18:84-85
-
(2001)
Hum Mut
, vol.18
, pp. 84-85
-
-
Hamelmann, C.1
Amedofu, G.K.2
Albrecht, K.3
Muntau, B.4
Gelhaus, A.5
Brobby, G.W.6
Horstmann, R.D.7
-
10
-
-
2042437650
-
Initial sequencing and analysis of the human genome
-
International Human Genome Sequencing Consortium (2001) Initial sequencing and analysis of the human genome. Nature 409:860-921
-
(2001)
Nature
, vol.409
, pp. 860-921
-
-
-
11
-
-
0030768747
-
Upstream genomic sequence of the human connexin26 gene
-
Kiang DT, Jin N, Tu ZJ, Lin HH (1997) Upstream genomic sequence of the human connexin26 gene. Gene 199:165-171
-
(1997)
Gene
, vol.199
, pp. 165-171
-
-
Kiang, D.T.1
Jin, N.2
Tu, Z.J.3
Lin, H.H.4
-
12
-
-
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
-
13
-
-
0025762012
-
Gene deletions causing human genetic disease: Mechanisms of mutagenesis and the role of the local DNA sequence environment
-
Krawczak M, Cooper DN (1991) Gene deletions causing human genetic disease: Mechanisms of mutagenesis and the role of the local DNA sequence environment. Hum Genet 86:425-441
-
(1991)
Hum Genet
, vol.86
, pp. 425-441
-
-
Krawczak, M.1
Cooper, D.N.2
-
14
-
-
0034677194
-
Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese population
-
Kudo T, Ikeda K, Kure S, Matsubara Y, Oshima T, Watanabe K, Kawase T, Narisawa K, Takasaka T (2000) Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese population. Am J Med Genet 90:141-145
-
(2000)
Am J Med Genet
, vol.90
, pp. 141-145
-
-
Kudo, T.1
Ikeda, K.2
Kure, S.3
Matsubara, Y.4
Oshima, T.5
Watanabe, K.6
Kawase, T.7
Narisawa, K.8
Takasaka, T.9
-
15
-
-
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 TBz (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
-
16
-
-
0034609284
-
Relation between choice of partner and high frequency of connexin-26 deafness
-
Nance WE, Liu XZ, Pandya A (2000) Relation between choice of partner and high frequency of connexin-26 deafness Lancet 356:500-501
-
(2000)
Lancet
, vol.356
, pp. 500-501
-
-
Nance, W.E.1
Liu, X.Z.2
Pandya, A.3
-
17
-
-
0036524027
-
Genetics of congenital deafness in the Palestinian population: Multiple connexin 26 alleles with shared origins in the Middle East
-
Shahin H, Walsh T, Sobe T, Lynch E, King M-C, Avraham KB, Kanaan M (2002) Genetics of congenital deafness in the Palestinian population: Multiple connexin 26 alleles with shared origins in the Middle East. Hum Genet 110:284-289
-
(2002)
Hum Genet
, vol.110
, pp. 284-289
-
-
Shahin, H.1
Walsh, T.2
Sobe, T.3
Lynch, E.4
King, M.-C.5
Avraham, K.B.6
Kanaan, M.7
-
18
-
-
0035000818
-
Connexin 26 (GJB2) mutations in the Turkish population: Implications for the origin and high frequency of the 35delG mutation in Caucasians
-
Tekin M, Akar N, Cin S, Blanton SH, Xia XJ, Liu X-Z, Nance WE, Pandya A (2001) Connexin 26 (GJB2) mutations in the Turkish population: Implications for the origin and high frequency of the 35delG mutation in Caucasians. Hum Genet 108:385-389
-
(2001)
Hum Genet
, vol.108
, pp. 385-389
-
-
Tekin, M.1
Akar, N.2
Cin, S.3
Blanton, S.H.4
Xia, X.J.5
Liu, X.-Z.6
Nance, W.E.7
Pandya, A.8
-
19
-
-
0034881345
-
A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment
-
Van Laer L, Couckel 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 RJH, 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
Couckel, 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.H.14
Van Camp, G.15
-
20
-
-
0034116117
-
A simple PCR test to detect the common 35delG mutation in the connexin 26 gene
-
Wilcox SA, Osborn AH, Dahl H-HM (2000) A simple PCR test to detect the common 35delG mutation in the connexin 26 gene Mol Diagn 5:75-78
-
(2000)
Mol Diagn
, vol.5
, pp. 75-78
-
-
Wilcox, S.A.1
Osborn, A.H.2
Dahl, H.-H.M.3
-
21
-
-
9844245885
-
Connexin 26 mutations associated with the most common form 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, Della Monica M, Lutfi J, Shohat M, Mansfield E, Delgrosso K, Rappaport E, Surrey S, Fortina P (1997) Connexin 26 mutations associated with the most common form 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
Della Monica, M.8
Lutfi, J.9
Shohat, M.10
Mansfield, E.11
Delgrosso, K.12
Rappaport, E.13
Surrey, S.14
Fortina, P.15
-
22
-
-
0024787405
-
Sequence and tissue distribution of a second protein of hepatic gap junctions, Cx26, as deduced from its cDNA
-
Zhang J-T, Nicholson BJ (1989) Sequence and tissue distribution of a second protein of hepatic gap junctions, Cx26, as deduced from its cDNA. J Cell Biol 109:3391-3401
-
(1989)
J Cell Biol
, vol.109
, pp. 3391-3401
-
-
Zhang, J.-T.1
Nicholson, B.J.2
|