-
1
-
-
22044444273
-
G59S mutation in GJB2 (connexin 26) gene in a patient with Bart-Pumphrey syndrome
-
Alexandrino F, Sartorato EL, Marques de Faria AP, Steiner CE. 2005. G59S mutation in GJB2 (connexin 26) gene in a patient with Bart-Pumphrey syndrome. Am J Med Genet Part A 136A:282-284.
-
(2005)
Am J Med Genet
, vol.136 A
, Issue.PART A
, pp. 282-284
-
-
Alexandrino, F.1
Sartorato, E.L.2
Marques de Faria, A.P.3
Steiner, C.E.4
-
2
-
-
0029974655
-
Connections with connexins: The molecular basis of direct intercellular signaling
-
Bruzzone R, White TW, Paul DL. 1996. Connections with connexins: The molecular basis of direct intercellular signaling. Eur J Biochem 238:1-27.
-
(1996)
Eur J Biochem
, vol.238
, pp. 1-27
-
-
Bruzzone, R.1
White, T.W.2
Paul, D.L.3
-
3
-
-
33644812965
-
Clinical and Genetic hoterogeneity of erythrokeratoderma variabilis
-
Common JEA
-
Common JEA, O'Toole EA, Leigh IM, Thomas A, Griffiths WAD, Venning V, Grabczynska S, Peri Z, Kansky A, Kelsell D. 2005. Clinical and Genetic hoterogeneity of erythrokeratoderma variabilis. J Invest Dermatol 125:920-927.
-
(2005)
J Invest Dermatol
, vol.125
, pp. 920-927
-
-
O'Toole, E.A.1
Leigh, I.M.2
Thomas, A.3
Griffiths, W.A.D.4
Venning, V.5
Grabczynska, S.6
Peri, Z.7
Kansky, A.8
Kelsell, D.9
-
4
-
-
22244489070
-
-
Del Castillo FJ, Rodríguez-Ballesteros M, Álvarez A, Hutchin T, Leonardi E, Oliveira CA, Azaiez H, Brownstein Z, Avenarius MR, Marlim S, Pandya A, Shahin H, Siemering KR, Weil D, Wuyts W, Aguirre LA, Martín,Y Moreno-Pelayo MA, Villamar M, Avraham KB, Dahl H-HM, Kanaan M, Nance WE, Petit C, Smith RJH, Van Camp G, Sartorato EL, Murgia A, Moreno F, Del Castillo I. 2005. 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 42:588-594.
-
Del Castillo FJ, Rodríguez-Ballesteros M, Álvarez A, Hutchin T, Leonardi E, Oliveira CA, Azaiez H, Brownstein Z, Avenarius MR, Marlim S, Pandya A, Shahin H, Siemering KR, Weil D, Wuyts W, Aguirre LA, Martín,Y Moreno-Pelayo MA, Villamar M, Avraham KB, Dahl H-HM, Kanaan M, Nance WE, Petit C, Smith RJH, Van Camp G, Sartorato EL, Murgia A, Moreno F, Del Castillo I. 2005. 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 42:588-594.
-
-
-
-
5
-
-
0034773461
-
Multiple epidermal connexins are expressed in different keratinocyte subpopulations including con-nexin 31
-
Di WL, RuggEL, Leigh IM, Kelsell DP. 2001. Multiple epidermal connexins are expressed in different keratinocyte subpopulations including con-nexin 31. J Invest Dermatol 117:958-964.
-
(2001)
J Invest Dermatol
, vol.117
, pp. 958-964
-
-
Di, W.L.1
Rugg, E.L.2
Leigh, I.M.3
Kelsell, D.P.4
-
6
-
-
2542461502
-
Large deletion of the GJB6 gene in deaf patients heterozygous for the GJB2 gene mutation: Genotypic and phenotypic analysis
-
Feldmann D, Denoyelle F, Chauvin P, Garabédian EN, Couderc R, Odent S, Joannard A, Schmerber S, Delobel B, Leman J, Journel H, Catros H, Le Maréchal C, Dollfus H, Eliot MM, Delaunoy JP, David A, Calais P, Goizet C, Duriez F, Fellman F, Hélias J, Vigneron J, Montaut B, Lewin P, Petit C, Marlin S. 2004. Large deletion of the GJB6 gene in deaf patients heterozygous for the GJB2 gene mutation: Genotypic and phenotypic analysis. Am J Med Genet 15:263-267.
-
(2004)
Am J Med Genet
, vol.15
, pp. 263-267
-
-
Feldmann, D.1
Denoyelle, F.2
Chauvin, P.3
Garabédian, E.N.4
Couderc, R.5
Odent, S.6
Joannard, A.7
Schmerber, S.8
Delobel, B.9
Leman, J.10
Journel, H.11
Catros, H.12
Le Maréchal, C.13
Dollfus, H.14
Eliot, M.M.15
Delaunoy, J.P.16
David, A.17
Calais, P.18
Goizet, C.19
Duriez, F.20
Fellman, F.21
Hélias, J.22
Vigneron, J.23
Montaut, B.24
Lewin, P.25
Petit, C.26
Marlin, S.27
more..
-
7
-
-
24344472519
-
The GJB2 mutation R75Q can cause nonsyndromic hearing loss DFNA3 or hereditary palmoplantar keratoderma with deafness
-
Feldmann D, Denoyelle F, Blons H, Lyonnet S, Loundon N, Rouillon I, Hadja-Rabia S, Petit C, Couderc R, Garabedian E. 2005. The GJB2 mutation R75Q can cause nonsyndromic hearing loss DFNA3 or hereditary palmoplantar keratoderma with deafness. Am J Med Genet Part A 137A:225-227.
-
(2005)
Am J Med Genet
, vol.137 A
, Issue.PART A
, pp. 225-227
-
-
Feldmann, D.1
Denoyelle, F.2
Blons, H.3
Lyonnet, S.4
Loundon, N.5
Rouillon, I.6
Hadja-Rabia, S.7
Petit, C.8
Couderc, R.9
Garabedian, E.10
-
8
-
-
0033522788
-
Maternally inherited nonsyndromic hearing loss
-
Friedman R, Bykhovskaya Y, Sue C, Dimauro S, Bradley R, Fallis-Cunning-ham R, Paradise N, Pensak M, Smith R, Gordon J, Li X, Fischel-Ghodsian N. 1999. Maternally inherited nonsyndromic hearing loss. Am J Med Genet 84:369-372.
-
(1999)
Am J Med Genet
, vol.84
, pp. 369-372
-
-
Friedman, R.1
Bykhovskaya, Y.2
Sue, C.3
Dimauro, S.4
Bradley, R.5
Fallis-Cunning-ham, R.6
Paradise, N.7
Pensak, M.8
Smith, R.9
Gordon, J.10
Li, X.11
Fischel-Ghodsian, N.12
-
9
-
-
0032837376
-
Nonsense mediated mRNA decay in health and disease
-
Frischmeyer PA, Dietz HC. 1999. Nonsense mediated mRNA decay in health and disease. Hum Mol Genet 8:1893-1900.
-
(1999)
Hum Mol Genet
, vol.8
, pp. 1893-1900
-
-
Frischmeyer, P.A.1
Dietz, H.C.2
-
10
-
-
33750597137
-
V37I connexin 26 allele in patients with sensorineural heaing loss: Evidence of its pathogenicity
-
Huculak C, Bruyere H, Nelson TN, Kozak FK, Langois S. 2006. V37I connexin 26 allele in patients with sensorineural heaing loss: Evidence of its pathogenicity. Am J Med Genet Part A 140A:2394-2400.
-
(2006)
Am J Med Genet
, vol.140 A
, Issue.PART A
, pp. 2394-2400
-
-
Huculak, C.1
Bruyere, H.2
Nelson, T.N.3
Kozak, F.K.4
Langois, S.5
-
12
-
-
33645002735
-
Life cycles ofconnexins in health and disease
-
Laird DW. 2006. Life cycles ofconnexins in health and disease. Biochem J 394:527-543.
-
(2006)
Biochem J
, vol.394
, pp. 527-543
-
-
Laird, D.W.1
-
13
-
-
0034184068
-
Identification of seven novel SNPs (five nucleotide and two amino acid substitutions) in the connexin 31 (GJB3) gene
-
López-Bigas N, Rabionet R, Martinez E, Banchs I, Volpini V, Vance JM, Arbonés ML, Estivill X. 2000. Identification of seven novel SNPs (five nucleotide and two amino acid substitutions) in the connexin 31 (GJB3) gene. Hum Mutat 15:481-482.
-
(2000)
Hum Mutat
, vol.15
, pp. 481-482
-
-
López-Bigas, N.1
Rabionet, R.2
Martinez, E.3
Banchs, I.4
Volpini, V.5
Vance, J.M.6
Arbonés, M.L.7
Estivill, X.8
-
14
-
-
0043133727
-
Mutation analysis ofconnexin 31 (GJB3) in sporadic nonsyndromic hearing impairment
-
Mhatre AN, Weld E, Lalwani AK. 2003. Mutation analysis ofconnexin 31 (GJB3) in sporadic nonsyndromic hearing impairment. Clin Genet 63:154-159.
-
(2003)
Clin Genet
, vol.63
, pp. 154-159
-
-
Mhatre, A.N.1
Weld, E.2
Lalwani, A.K.3
-
15
-
-
34447262338
-
Molecular genetics study of deafness in Brazil: 8-year experience
-
Oliveira CA, Alexandrino F, Christiani TV, Steiner CE, Cunha JLR, Maciel Guerra AT, Sartorato EL. 2007. Molecular genetics study of deafness in Brazil: 8-year experience. Am J Med Genet Part A 143A:1574-579.
-
(2007)
Am J Med Genet
, vol.143 A
, Issue.PART A
, pp. 1574-1579
-
-
Oliveira, C.A.1
Alexandrino, F.2
Christiani, T.V.3
Steiner, C.E.4
Cunha, J.L.R.5
Maciel Guerra, A.T.6
Sartorato, E.L.7
-
16
-
-
0031785706
-
Mutated connexin 43 proteins inhibit rat glioma cell growth suppression mediated by wild-type connexin 43 in a dominant-negative manner
-
Omori Y, Yamasaki H. 1998. Mutated connexin 43 proteins inhibit rat glioma cell growth suppression mediated by wild-type connexin 43 in a dominant-negative manner. Int J Cancer 78:446-53.
-
(1998)
Int J Cancer
, vol.78
, pp. 446-453
-
-
Omori, Y.1
Yamasaki, H.2
-
17
-
-
0033850250
-
Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins
-
Rabionet R, Gasparini P, Estivill X. 2000. Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins. Hum Mutat 16:190-202.
-
(2000)
Hum Mutat
, vol.16
, pp. 190-202
-
-
Rabionet, R.1
Gasparini, P.2
Estivill, X.3
-
18
-
-
0035226626
-
Connexin disorders of the skin
-
Richard G. 2001. Connexin disorders of the skin. Adv Dermatol 17:243-277.
-
(2001)
Adv Dermatol
, vol.17
, pp. 243-277
-
-
Richard, G.1
-
19
-
-
0031722150
-
Functional defects ofC×g from a heterozygous missense mutation in a family with dominant deaf mutism and palmoplantar keratoderma
-
Richard G, White TW, Smith LE, Bailey RA, Compton JG, Paul DL, Bale SJ. 1998. Functional defects ofC×g from a heterozygous missense mutation in a family with dominant deaf mutism and palmoplantar keratoderma. Hum Genet 103:393-399.
-
(1998)
Hum Genet
, vol.103
, pp. 393-399
-
-
Richard, G.1
White, T.W.2
Smith, L.E.3
Bailey, R.A.4
Compton, J.G.5
Paul, D.L.6
Bale, S.J.7
-
20
-
-
18344395853
-
Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis- deafness syndrome
-
Richard G, Rouan F, Willoughby CE, Brown N, Chung P, Ryynä, Jabs EW, Bale SJ, DiGiovanna JJ, Uitto J, Russell L. 2002. Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis- deafness syndrome. Am J Hum Genet 70:1341-1348.
-
(2002)
Am J Hum Genet
, vol.70
, pp. 1341-1348
-
-
Richard, G.1
Rouan, F.2
Willoughby, C.E.3
Brown, N.4
Chung, P.5
Ryynä6
Jabs, E.W.7
Bale, S.J.8
DiGiovanna, J.J.9
Uitto, J.10
Russell, L.11
-
21
-
-
0037378471
-
Genetic heterogeinity in erythrokeratodermia variabilis: Novel mutations in the connexin gene GJB4 (C×nd genotype-phenotype correlations
-
Richard G, Brown K, Rouan F, An Der Schroeff JG, Bijlsma E, Eichenfield LF, et al. 2003. Genetic heterogeinity in erythrokeratodermia variabilis: Novel mutations in the connexin gene GJB4 (C×nd genotype-phenotype correlations. J Invest Dermatol 120:601-609.
-
(2003)
J Invest Dermatol
, vol.120
, pp. 601-609
-
-
Richard, G.1
Brown, K.2
Rouan, F.3
An Der Schroeff, J.G.4
Bijlsma, E.5
Eichenfield, L.F.6
-
22
-
-
0037728362
-
Divergent effects of two sequence variants of GJB3 gene (G12D and R32W) on the function of connexin 31 in vitro
-
Rouan F, Lo CW, Fertala A, Wahl M, Jost M, Robeck U, Uitto J, Richard G. 2003. Divergent effects of two sequence variants of GJB3 gene (G12D and R32W) on the function of connexin 31 in vitro. Exp Dermatol 12:191-197.
-
(2003)
Exp Dermatol
, vol.12
, pp. 191-197
-
-
Rouan, F.1
Lo, C.W.2
Fertala, A.3
Wahl, M.4
Jost, M.5
Robeck, U.6
Uitto, J.7
Richard, G.8
-
23
-
-
0027993625
-
Topography ofmammalian connexins in human skin
-
Salomon D, Masgrau E, Vischer S, Ullrich S, Dupont E, Sappino P, Saurat JH, Meda P. 1994. Topography ofmammalian connexins in human skin. J Invest Dermatol 103:240-247.
-
(1994)
J Invest Dermatol
, vol.103
, pp. 240-247
-
-
Salomon, D.1
Masgrau, E.2
Vischer, S.3
Ullrich, S.4
Dupont, E.5
Sappino, P.6
Saurat, J.H.7
Meda, P.8
-
24
-
-
34147185848
-
Mutations in GJB2, GJB6 and mitochondrial DNA are rare in african american and caribbean hispanic individuals with hearing impairment
-
Samanich J, Lowes C, Burk R, Shanske S, Lu J, Shanske A, Morrow BE. 2007. Mutations in GJB2, GJB6 and mitochondrial DNA are rare in african american and caribbean hispanic individuals with hearing impairment. Am J Med Genet Part A 143A:830-838.
-
(2007)
Am J Med Genet
, vol.143 A
, Issue.PART A
, pp. 830-838
-
-
Samanich, J.1
Lowes, C.2
Burk, R.3
Shanske, S.4
Lu, J.5
Shanske, A.6
Morrow, B.E.7
-
25
-
-
0036821529
-
The novel R75Q mutation in the GJB2 gene causes autosomal dominant hearing loss and palmoplantar keratoderma in a Turkish family
-
Uyguner O, Tukel T, Baykal C, Eris H, Emiroglu M, Hafiz G, et al. 2002. The novel R75Q mutation in the GJB2 gene causes autosomal dominant hearing loss and palmoplantar keratoderma in a Turkish family. Clin Genet 62:306-309.
-
(2002)
Clin Genet
, vol.62
, pp. 306-309
-
-
Uyguner, O.1
Tukel, T.2
Baykal, C.3
Eris, H.4
Emiroglu, M.5
Hafiz, G.6
-
26
-
-
0035985057
-
Structural and functional diversity of connexin genes in the mouse and human genome
-
Willecke K, Eiberger J, Degen J, Eckardt D, Romualdi A, Guldenagel M, Deutsch U, Sohl G. 2002. Structural and functional diversity of connexin genes in the mouse and human genome. Biol Chem 383: 725-737.
-
(2002)
Biol Chem
, vol.383
, pp. 725-737
-
-
Willecke, K.1
Eiberger, J.2
Degen, J.3
Eckardt, D.4
Romualdi, A.5
Guldenagel, M.6
Deutsch, U.7
Sohl, G.8
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