-
1
-
-
0027494118
-
Hearing loss
-
Joseph B. Nadol: Hearing loss. N Engl J Med 329, 1092-1102 (1993)
-
(1993)
N Engl J Med
, vol.329
, pp. 1092-1102
-
-
Nadol, J.B.1
-
2
-
-
33646706079
-
Newborn hearing screening - A silent revolution
-
DOI 10.1056/NEJMra050700
-
Cynthia C. Morton and Walter E. Nance: Newborn hearing screening - a silent revolution. N Engl J Med 354, 2151-2164 (2006) (Pubitemid 43736615)
-
(2006)
New England Journal of Medicine
, vol.354
, Issue.20
, pp. 2151-2164
-
-
Morton, C.C.1
Nance, W.E.2
-
3
-
-
0029807805
-
Genes responsible for human hereditary deafness: Symphony of a thousand
-
DOI 10.1038/ng1296-385
-
Christine Petit: Genes responsible for human hereditary deafness: symphony of a thousand. Nat Genet 14, 385-391 (1996) (Pubitemid 26414581)
-
(1996)
Nature Genetics
, vol.14
, Issue.4
, pp. 385-391
-
-
Petit, C.1
-
4
-
-
0028249690
-
A non-syndromic form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13q
-
DOI 10.1038/ng0194-24
-
Parry Guilford, Saida Ben Arab, Stephane Blanchard, Jacqueline Levilliers, Jean Weissenbach, Ali Belkahia, Christine Petit: A non-syndromic form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13q. Nat Genet 6, 24-28 (1994) (Pubitemid 24191908)
-
(1994)
Nature Genetics
, vol.6
, Issue.1
, pp. 24-28
-
-
Guilford, P.1
Arab, S.B.2
Blanchard, S.3
Levilliers, J.4
Weissenbach, J.5
Belkahia, A.6
Petit, C.7
-
6
-
-
0031007349
-
Connexin 26 mutations in hereditary non-syndromic sensorineural deafness
-
David P. Kelsell, John Dunlop, Howard P. Stevens, Nicholas J. Lench, Jianning Liang, Gareth Parry, Robert F. Mueller, Irene M. Leigh: Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. Nature 387, 80-83 (1997) (Pubitemid 27202653)
-
(1997)
Nature
, vol.387
, Issue.6628
, 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
-
7
-
-
0030768747
-
Upstream genomic sequence of the human connexin 26 gene
-
DOI 10.1016/S0378-1119(97)00365-X, PII S037811199700365X
-
David T. Kiang, Ni Jin, Zheng Jin Tu, Her H. Lin: Upstream genomic sequence of the human connexin26 gene. Gene 199, 165-171 (1997) (Pubitemid 27448215)
-
(1997)
Gene
, vol.199
, Issue.1-2
, pp. 165-171
-
-
Kiang, D.T.1
Jin, N.2
Tu, Z.-J.3
Lin, H.H.4
-
9
-
-
0030028301
-
The gap junction communication channel
-
DOI 10.1016/S0092-8674(00)81282-9
-
Nalin M. Kumar, Norton B. Gilula: The gap junction communication channel. Cell 84, 381-388 (1996) (Pubitemid 26060720)
-
(1996)
Cell
, vol.84
, Issue.3
, pp. 381-388
-
-
Kumar, N.M.1
Gilula, N.B.2
-
10
-
-
63849141447
-
Structure of the connexin 26 gap junction channel at 3.5 Å resolution
-
Shoji Maeda, So Nakagawa, Michihiro Suga, Eiki Yamashita, Atsunori Oshima, Yoshinori Fujiyoshi, Tomitake Tsukihara: Structure of the connexin 26 gap junction channel at 3.5 Å resolution. Nature 458, 597-604 (2009)
-
(2009)
Nature
, vol.458
, pp. 597-604
-
-
Maeda, S.1
Nakagawa, S.2
Suga, M.3
Yamashita, E.4
Oshima, A.5
Fujiyoshi, Y.6
Tsukihara, T.7
-
11
-
-
0006323604
-
Mapping and characterization of the basal promoter of the human connexin26 gene
-
DOI 10.1016/S0167-4781(98)00212-7, PII S0167478198002127
-
Zheng J. Tu, David T. Kiang: Mapping and characterization of the basal promoter of the human connexin26 gene. Biochim Biophys Acta 1443, 169-181 (1998) (Pubitemid 29016020)
-
(1998)
Biochimica et Biophysica Acta - Gene Structure and Expression
, vol.1443
, Issue.1-2
, pp. 169-181
-
-
Tu, Z.J.1
Kiang, D.T.2
-
12
-
-
57749121610
-
Coordinated control of connexin 26 and connexin 30 at the regulatory and functional level in the inner ear
-
Saida Ortolano, Giovanni Di Pasquale, Giulia Crispino, Fabio Anselmi, Fabio Mammano, John A. Chiorini: Coordinated control of connexin 26 and connexin 30 at the regulatory and functional level in the inner ear. Proc Natl Acad Sci USA 105, 18776-18781 (2008)
-
(2008)
Proc Natl Acad Sci USA
, vol.105
, pp. 18776-18781
-
-
Ortolano, S.1
Di Pasquale, G.2
Crispino, G.3
Anselmi, F.4
Mammano, F.5
Chiorini, J.A.6
-
13
-
-
0029118539
-
Analysis of multiple gap junction gene products in the rodent and human mammary gland
-
Ambra Pozzi, Boris Risek, David T. Kiang, Norton B. Gilula, Nalim M. Kumar: Analysis of multiple gap junction gene products in the rodent and human mammary gland. Exp Cell Res 220, 212-219 (1995)
-
(1995)
Exp Cell Res
, vol.220
, pp. 212-219
-
-
Pozzi, A.1
Risek, B.2
Kiang, D.T.3
Gilula, N.B.4
Kumar, N.M.5
-
14
-
-
0031795109
-
Expression of the gap-junction connexins 26 and 30 in the rat cochlea
-
DOI 10.1007/s004410051192
-
Jurgen Lautermann, Wouter-Jan F. ten Cate, Petra Altenhoff, Ruth Grummer, Otto Traub, H.G. Frank, Klaus Jahnke, Elke Winterhager: Expression of the gap-junction connexins 26 and 30 in the rat cochlea. Cell Tissue Res 294, 415-420 (1998) (Pubitemid 28510853)
-
(1998)
Cell and Tissue Research
, vol.294
, Issue.3
, pp. 415-420
-
-
Lautermann, J.1
Ten Cate, W.-J.F.2
Altenhoff, P.3
Grummer, R.4
Traub, O.5
Frank, H.-G.6
Jahnke, K.7
Winterhager, E.8
-
15
-
-
0037059884
-
Connexin expression in homotypic and heterotypic cell coupling in the developing cerebral cortex
-
DOI 10.1002/cne.2121
-
Kevin Bittman, David L. Becker, Federico Cicirata, John G. Parnavelas: Connexin expression in homotypic and heterotypic cell coupling in the developing cerebral cortex. J Comp Neurol 443, 201-212 (2002) (Pubitemid 34093460)
-
(2002)
Journal of Comparative Neurology
, vol.443
, Issue.3
, pp. 201-212
-
-
Bittman, K.1
Becker, D.L.2
Cicirata, F.3
Parnavelas, J.G.4
-
16
-
-
0242266904
-
Gap Junctions in the Inner Ear: Comparison of Distribution Patterns in Different Vertebrates and Assessment of Connexin Composition in Mammals
-
DOI 10.1002/cne.10916
-
Andrew Forge, David Becker, Stefano Casalotti, Jill Edwards, Nerissa Marziano, Graham Nevill: Gap junctions in the inner ear: Comparison of distribution patterns in different vertebrates and assessment of connexin composition in mammals. J Comp Neurol 467, 207-231 (2003) (Pubitemid 37363146)
-
(2003)
Journal of Comparative Neurology
, vol.467
, Issue.2
, pp. 207-231
-
-
Forge, A.1
Becker, D.2
Casalotti, S.3
Edwards, J.4
Marziano, N.5
Nevill, G.6
-
17
-
-
1842665165
-
An expression atlas of connexin genes in the mouse
-
DOI 10.1016/j.ygeno.2003.10.011, PII S0888754303003410
-
Annalisa Buniello, Donatella Montanaro, Stefano Volinia, Paolo Gasparini, Valeria Marigo: An expression atlas of connexin genes in the mouse. Genomics 83, 812-820 (2004) (Pubitemid 38469923)
-
(2004)
Genomics
, vol.83
, Issue.5
, pp. 812-820
-
-
Buniello, A.1
Montanaro, D.2
Volinia, S.3
Gasparini, P.4
Marigo, V.5
-
18
-
-
4344718408
-
Expression of connexins in human preimplantation embryos in vitro
-
Debra J. Bloor, Yvonne Wilson, Mark Kibschull, Otto Traub, Henry J Leese, Elke Winterhager, Susan J Kimber: Expression of connexins in human preimplantation embryos in vitro. Reprod Biol Endocrinol 2, 25 (2004)
-
(2004)
Reprod Biol Endocrinol
, vol.2
, pp. 25
-
-
Bloor, D.J.1
Wilson, Y.2
Kibschull, M.3
Traub, O.4
Leese, H.J.5
Winterhager, E.6
Kimber, S.J.7
-
19
-
-
0034052973
-
Presence and localization of connexins 43 and 26 in cell cultures derived from myometrial tissues from nonpregnant and pregnant women and from leiomyomas
-
H. Nadir Çiray, Xin Fu, Matts Olovsson, Goran Ahlsen, Cynthia Shuman, Bo Lindblom, Ulf Ulmsten: Presence and localization of connexins 43 and 26 in cell cultures derived from myometrial tissues from nonpregnant and pregnant women and from leiomyomas. Am J Obstet Gynecol 182, 926-930 (2000) (Pubitemid 30228469)
-
(2000)
American Journal of Obstetrics and Gynecology
, vol.182
, Issue.4
, pp. 926-930
-
-
Ciray, H.N.1
Fu, X.2
Olovsson, M.3
Ahlsen, G.4
Shuman, C.5
Lindblom, B.6
Ulmsten, U.7
-
20
-
-
0031908039
-
Expression of gap junction proteins connexin 26 and connexin 43 in normal human breast and in breast tumours
-
DOI 10.1002/(SICI)1096-9896(199801)184:1<37::AID-PATH966>3.0.CO;2-D
-
Susan Jamieson, James J. Going, Roy D'Arcy, W. David George: Expression of gap junction proteins connexin 26 and connexin 43 in normal human breast and in breast tumours. J Pathol 184, 37-43 (1998) (Pubitemid 28086151)
-
(1998)
Journal of Pathology
, vol.184
, Issue.1
, pp. 37-43
-
-
Jamieson, S.1
Going, J.J.2
D'Arcy, R.3
George, W.D.4
-
21
-
-
22144495802
-
In vivo and in vitro expression of connexins in the human corneal epithelium
-
Daniel L. Shurman, Lisa Glazewski, Anna Gumpert, James D. Zieske, Gabriele Richard: In vivo and in vitro expression of connexins in the human corneal epithelium. Inves Ophthalm Vis Sci 46, 1957-1965 (2005)
-
(2005)
Inves Ophthalm Vis Sci
, vol.46
, pp. 1957-1965
-
-
Shurman, D.L.1
Glazewski, L.2
Gumpert, A.3
Zieske, J.D.4
Richard, G.5
-
22
-
-
2442417362
-
Connexins 26, 30, and 43: Differences among spontaneous, chronic, and accelerated human wound healing
-
DOI 10.1111/j.0022-202X.2004.22529.x
-
Johanna M Brandner, Pia Houdek, Birgit Husing, Colette Kaiser, Ingrid Moll: Connexins 26, 30, and 43: differences among spontaneous, chronic, and accelerated human wound healing. J Invest Dermatol 122, 1310-1320 (2004) (Pubitemid 38651108)
-
(2004)
Journal of Investigative Dermatology
, vol.122
, Issue.5
, pp. 1310-1320
-
-
Brandner, J.M.1
Houdek, P.2
Husing, B.3
Kaiser, C.4
Moll, I.5
-
23
-
-
27144436163
-
Specific loss of connexin 26 expression in ductal sweat gland epithelium associated with the deletion mutation del(GJB6-D13S1830)
-
DOI 10.1111/j.1365-2230.2005.01878.x
-
John E.A. Common, Maria Bitner-Glindzicz, Edel A. O'Toole, Michael R. Barnes, Lucy Jenkins, Andrew Forge, David P. Kelsell: Specific loss of connexin 26 expression in ductal sweat gland epithelium associated with the deletion mutation del(GJB6-D13S1830). Clin Exp Dermatol 30, 688-693 (2005). (Pubitemid 41499830)
-
(2005)
Clinical and Experimental Dermatology
, vol.30
, Issue.6
, pp. 688-693
-
-
Common, J.E.A.1
Bitner-Glindzicz, M.2
O'Toole, E.A.3
Barnes, M.R.4
Jenkins, L.5
Forge, A.6
Kelsell, D.P.7
-
24
-
-
62949184119
-
Unique expression of connexins in the human cochlea
-
Wei Liu, Marja Boström, Anders Kinnefors, Helge Rask-Andersen: Unique expression of connexins in the human cochlea. Hear Res 250, 55-62 (2009)
-
(2009)
Hear Res
, vol.250
, pp. 55-62
-
-
Liu, W.1
Boström, M.2
Kinnefors, A.3
Rask-Andersen, H.4
-
25
-
-
0028053443
-
Gap junction systems in the rat vestibular labyrinth: Immunohistochemical and ultrastructural analysis
-
Toshihiko Kikuchi, Joe C. Adams, David L. Paul, Robert S. Kimura: Gap junction systems in the rat vestibular labyrinth: Immunohistochemical and ultrastructural analysis. Acta Otolaryngol 114, 520-528 (1994) (Pubitemid 24326766)
-
(1994)
Acta Oto-Laryngologica
, vol.114
, Issue.5
, pp. 520-528
-
-
Kikuchi, T.1
Adams, J.C.2
Paul, D.L.3
Kimura, R.S.4
-
26
-
-
0028843286
-
Gap junctions in the rat cochlea: Immunohistochemical and ultrastructural analysis
-
Toshihiko Kikuchi, Robert S. Kimura, David L. Paul, Joe C. Adams: Gap junctions in the rat cochlea: immunohistochemical and ultrastructural analysis. Anat Embryol 191, 101-118 (1995)
-
(1995)
Anat Embryol
, vol.191
, pp. 101-118
-
-
Kikuchi, T.1
Kimura, R.S.2
Paul, D.L.3
Adams, J.C.4
-
27
-
-
0034109489
-
Immunolocalization of connexin 26 in the developing mouse cochlea
-
DOI 10.1016/S0165-0173(99)00078-8, PII S0165017399000788
-
Christopher M. Frenz, Thomas R. Van De Water: Immunolocalization of connexin26 in the developing mouse cochlea. Brain Res Rev 32, 172-180 (2000) (Pubitemid 30177321)
-
(2000)
Brain Research Reviews
, vol.32
, Issue.1
, pp. 172-180
-
-
Frenz, C.M.1
Van De Water, T.R.2
-
28
-
-
0032861495
-
Expression of connexin 26 and Na,K-ATPase in the developing mouse cochlear lateral wall: Functional implications
-
DOI 10.1016/S0006-8993(99)01996-4, PII S0006899399019964
-
An-Ping Xia, Toshihiko Kikuchi, Koji Hozawa, Yukio Katori, Tomonori Takasaka: Expression of connexin26 and Na,K-ATPase in the developing mouse cochlear lateral wall: functional implications. Brain Res 846, 106-111 (1999) (Pubitemid 29486446)
-
(1999)
Brain Research
, vol.846
, Issue.1
, pp. 106-111
-
-
Xia, A.-P.1
Kikuchi, T.2
Hozawa, K.3
Katori, Y.4
Takasaka, T.5
-
29
-
-
0037046804
-
Targeted ablation of connexin26 in the inner ear epithelial gap junction network causes hearing impairment and cell death
-
DOI 10.1016/S0960-9822(02)00904-1, PII S0960982202009041
-
Martine Cohen-Salmon, Thomas Ott, Vincent Michel, Jean-Pierre Hardelin, Isabelle Perfettini, Michel Eybalin, Tao Wu, Daniel C. Marcus, Philine Wangemann, Klaus Willecke, Christine Petit: Targeted ablation of connexin26 in the inner ear epithelial gap junction network causes hearing impairment and cell death. Curr Biol 12, 1106-1111 (2002) (Pubitemid 34766932)
-
(2002)
Current Biology
, vol.12
, Issue.13
, pp. 1106-1111
-
-
Cohen-Salmon, M.1
Ott, T.2
Michel, V.3
Hardelin, J.-P.4
Perfettini, I.5
Eybalin, M.6
Wu, T.7
Marcus, D.C.8
Wangemann, P.9
Willecke, K.10
Petit, C.11
-
30
-
-
69449102234
-
Connexin30 null and conditional connexin26 null mice display distinct pattern and time course of cellular degeneration in the cochlea
-
Yu Sun, Wenxue Tang, Qing Chang, Yunfeng Wang, Weijia Kong, Xi Lin: Connexin30 null and conditional connexin26 null mice display distinct pattern and time course of cellular degeneration in the cochlea. J Comp Neurol 516, 569-579 (2009)
-
(2009)
J Comp Neurol
, vol.516
, pp. 569-579
-
-
Sun, Y.1
Tang, W.2
Chang, Q.3
Wang, Y.4
Kong, W.5
Lin, X.6
-
31
-
-
58149354499
-
Gap junction mediated intercellular metabolite transfer in the cochlea is compromised in connexin30 null mice
-
Qing Chang, Wenxue Tang, Shoeb Ahmad, Binfei Zhou, Xi Lin: Gap junction mediated intercellular metabolite transfer in the cochlea is compromised in connexin30 null mice. PLoS ONE 3, e4088 (2008)
-
(2008)
PLoS ONE
, vol.3
-
-
Chang, Q.1
Tang, W.2
Ahmad, S.3
Zhou, B.4
Lin, X.5
-
32
-
-
12344304163
-
3 in a mutant connexin underlies recessive hereditary deafness
-
DOI 10.1038/ncb1205
-
Martina Beltramello, Valeria Piazza, Feliksas F. Bukauskas, Tullio Pozzan, Fabio Mammano: Impaired permeability to IP3 in a mutant connexin underlies recessive hereditary deafness. Nat Cell Biol 7, 63-69 (2005) (Pubitemid 40123384)
-
(2005)
Nature Cell Biology
, vol.7
, Issue.1
, pp. 63-69
-
-
Beltramello, M.1
Piazza, V.2
Bukauskas, F.F.3
Pozzan, T.4
Mammano, F.5
-
33
-
-
57749100300
-
ATP release through connexin hemichannels and gap junction transfer of second messengers propagate Ca2+ signals across the inner ear
-
Fabio Anselmi, Victor H. Hernandez, Giulia Crispino, Anke Seydel, Saida Ortolano, Stephen D. Roper, Nicoletta Kessaris, William Richardson, Gesa Rickheit, Mikhail A. Filippov, Hannah Monyer, Fabio Mammano: ATP release through connexin hemichannels and gap junction transfer of second messengers propagate Ca2+ signals across the inner ear. Proc Natl Acad Sci USA 105, 18770-18775 (2008)
-
(2008)
Proc Natl Acad Sci USA
, vol.105
, pp. 18770-18775
-
-
Anselmi, F.1
Hernandez, V.H.2
Crispino, G.3
Seydel, A.4
Ortolano, S.5
Roper, S.D.6
Kessaris, N.7
Richardson, W.8
Rickheit, G.9
Filippov, M.A.10
Monyer, H.11
Mammano, F.12
-
35
-
-
0028955296
-
Ion transport mechanisms responsible for K+ secretion and the transepithelial voltage across marginal cells of stria vascularis in vitro
-
Philine Wangemann, Jianzhong Liu, Daniel C. Marcus: Ion transport mechanisms responsible for K+ secretion and the transepithelial voltage across marginal cells of stria vascularis in vitro. Hear Res 84, 19-29 (1995)
-
(1995)
Hear Res
, vol.84
, pp. 19-29
-
-
Wangemann, P.1
Liu, J.2
Marcus, D.C.3
-
36
-
-
0033748260
-
Mechanism generating endocochlear potential: Role played by intermediate cells in stria vascularis
-
Shunji Takeuchi, Motonori Ando, Akinobu Kakigi: Mechanism generating endocochlear potential: role played by intermediate cells in stria vascularis. Biophys J 79, 2572-2582 (2000)
-
(2000)
Biophys J
, vol.79
, pp. 2572-2582
-
-
Takeuchi, S.1
Ando, M.2
Kakigi, A.3
-
37
-
-
0036086734
-
KCNJ10 (kir4.1) potassium channel knockout abolishes endocochlear potential
-
Daniel C. Marcus, Tao Wu, Philine Wangemann, Paulo Kofuji: KCNJ10 (Kir4.1) potassium channel knockout abolishes endocochlear potential. Am J Physiol Cell Physiol 282, C403-407 (2002) (Pubitemid 34663200)
-
(2002)
American Journal of Physiology - Cell Physiology
, vol.282
, Issue.2
-
-
Marcus, D.C.1
Wu, T.2
Wangemann, P.3
Kofuji, P.4
-
38
-
-
35248873008
-
Functional significance of channels and transporters expressed in the inner ear and kidney
-
DOI 10.1152/ajpcell.00024.2007
-
Florian Lang, Volker Vallon, Marlies Knipper, Philine Wangemann: Functional significance of channels and transporters expressed in the inner ear and kidney. Am J Physiol Cell Physiol 293, C1187-C1208 (2007) (Pubitemid 47558943)
-
(2007)
American Journal of Physiology - Cell Physiology
, vol.293
, Issue.4
-
-
Lang, F.1
Vallon, V.2
Knipper, M.3
Wangemann, P.4
-
40
-
-
0742323558
-
Nonsense-mediated mRNA decay: Splicing, translation and mRNP dynamics
-
DOI 10.1038/nrm1310
-
Lynne E. Maquat: Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics. Nat Rev Mol Cell Biol 5, 89-99 (2004) (Pubitemid 38160252)
-
(2004)
Nature Reviews Molecular Cell Biology
, vol.5
, Issue.2
, pp. 89-99
-
-
Maquat, L.E.1
-
41
-
-
33746224027
-
Applying nonsense-mediated mRNA decay research to the clinic: progress and challenges
-
DOI 10.1016/j.molmed.2006.05.005, PII S1471491406001122
-
Holly A. Kuzmiak, Lynne E. Maquat: Applying nonsense-mediated mRNA decay research to the clinic: progress and challenges. Trends Mol Med 12, 306-316 (2006) (Pubitemid 44094291)
-
(2006)
Trends in Molecular Medicine
, vol.12
, Issue.7
, pp. 306-316
-
-
Kuzmiak, H.A.1
Maquat, L.E.2
-
42
-
-
0036730525
-
Functional study of GJB2 in hereditary hearing loss
-
Yun Hoon Choung, Sung-Kyun Moon, Hong-Joon Park: Functional Study of GJB2 in Hereditary Hearing Loss. Laryngoscope 112, 1667-1671 (2002) (Pubitemid 34977575)
-
(2002)
Laryngoscope
, vol.112
, Issue.9
, pp. 1667-1671
-
-
Choung, Y.H.1
Moon, S.-K.2
Park, H.-J.3
-
43
-
-
0034106939
-
Analysis of connexin intracellular transport and assembly
-
DOI 10.1006/meth.1999.0933
-
Judy K. VanSlyke, Linda S. Musil: Analysis of connexin intracellular transport and assembly. Methods 20, 156-164 (2000) (Pubitemid 30130808)
-
(2000)
Methods
, vol.20
, Issue.2
, pp. 156-164
-
-
Vanslyke, J.K.1
Musil, L.S.2
-
44
-
-
47949085809
-
Advantages and limitations of commonly used methods to assay the molecular permeability of gap junctional intercellular communication
-
Muriel Abbaci, Muriel Barberi-Heyob, Walter Blondel, François Guillemin, Jacques Didelon: Advantages and limitations of commonly used methods to assay the molecular permeability of gap junctional intercellular communication. BioTechniques 45, 33-62 (2008)
-
(2008)
BioTechniques
, vol.45
, pp. 33-62
-
-
Abbaci, M.1
Barberi-Heyob, M.2
Blondel, W.3
Guillemin, F.4
Didelon, J.5
-
45
-
-
0032514477
-
Connexin mutations in deafness
-
Thomas W White, Michael R. Deans, David P. Kelsell, David L. Paul: Connexin mutations in deafness. Nature 394, 630-631 (1998)
-
(1998)
Nature
, vol.394
, pp. 630-631
-
-
White, T.W.1
Deans, M.R.2
Kelsell, D.P.3
Paul, D.L.4
-
46
-
-
0033838433
-
Autosomal recessive nonsyndromic neurosensory deafness at DFNB1 not associated with the compound-heterozygous GJB2 (connexin 26) genotype M34T/167delT
-
DOI 10.1086/303045
-
Andrew J. Griffith, Aqeel A. Chowdhry, Kiyoto Kurima, Linda J. Hood, Bronya Keats, Charles I. Berlin, Robert J. Morell, Thomas B. Friedman: Autosomal recessive nonsyndromic neurosensory deafness at DFNB1 not associated with the compound-heterozygous GJB2 (connexin 26) genotype M34T/167delT. Am J Hum Genet 67, 745-749 (2000) (Pubitemid 30659604)
-
(2000)
American Journal of Human Genetics
, vol.67
, Issue.3
, pp. 745-749
-
-
Griffith, A.J.1
Chowdhry, A.A.2
Kurima, K.3
Hood, L.J.4
Keats, B.5
Berlin, C.I.6
Morell, R.J.7
Friedman, T.B.8
-
47
-
-
0032715472
-
Properties of connexin26 gap junctional proteins derived from mutations associated with non-syndromal hereditary deafness
-
Patricia E.M. Martin, Sharon L. Coleman, Stefano O. Casalotti, Andrew Forge, W. Howard Evans: Properties of connexin26 gap junctional proteins derived from mutations associated with non-syndromal hereditary deafness. Hum Mol Genet 8, 2369-2376 (1999)
-
(1999)
Hum Mol Genet
, vol.8
, pp. 2369-2376
-
-
Martin, P.E.M.1
Coleman, S.L.2
Casalotti, S.O.3
Forge, A.4
Evans, W.H.5
-
48
-
-
0036384216
-
Hearing loss: Frequency and functional studies of the most common connexin26 alleles
-
Paola D'Andrea, Valentina Veronesi, Massimiliano Bicego, Salvatore Melchionda, Leopoldo Zelante, Enzo Di Iorio, Roberto Bruzzone, Paolo Gasparini: Hearing loss: frequency and functional studies of the most common connexin26 alleles. Biochem Biophys Res Com 296, 685-691 (2002)
-
(2002)
Biochem Biophys Res Com
, vol.296
, pp. 685-691
-
-
D'andrea, P.1
Veronesi, V.2
Bicego, M.3
Melchionda, S.4
Zelante, L.5
Di Iorio, E.6
Bruzzone, R.7
Gasparini, P.8
-
49
-
-
0036705666
-
Human connexin26 (GJB2) deafness mutations affect the function of gap junction channels at different levels of protein expresion
-
DOI 10.1007/s00439-002-0750-2
-
Eva Thonnissen, Raquel Rabionet, Maria Lourdes Arbones, Xavier Estivill, Klaus Willecke, Thomas Ott: Human connexin26 (GJB2) deafness mutations affect the function of gap junction channels at different levels of protein expression. Hum Genet 111, 190-197 (2002) (Pubitemid 36075038)
-
(2002)
Human Genetics
, vol.111
, Issue.2
, pp. 190-197
-
-
Thonnissen, E.1
Rabionet, R.2
Arbones, M.L.3
Estivill, X.4
Willecke, K.5
Ott, T.6
-
50
-
-
4644303598
-
Aberrant gating, but a normal expression pattern, underlies the recessive phenotype of the deafness mutant Connexin26 M34T
-
Ingrid M. Skerrett, Wei-Li Di, Eileen M. Kasperek, David P. Kelsell, Bruce J. Nicholson: Aberrant gating, but a normal expression pattern, underlies the recessive phenotype of the deafness mutant Connexin26 M34T. FASEB J 18, 860-862 (2004)
-
(2004)
FASEB J
, vol.18
, pp. 860-862
-
-
Skerrett, I.M.1
Di, W.-L.2
Kasperek, E.M.3
Kelsell, D.P.4
Nicholson, B.J.5
-
51
-
-
0037413825
-
Loss-of-function and residual channel activity of connexin26 mutations associated with non-syndromic deafness
-
DOI 10.1016/S0014-5793(02)03755-9, PII S0014579302037559
-
Roberto Bruzzone, Valentina Veronesi, Danielle Gomès, Massimiliano Bicego, Nathalie Duval, Sandrine Marlin, Christine Petit, Paola D'Andrea, Thomas W. White: Loss-of-function and residual channel activity of connexin26 mutations associated with non-syndromic deafness. FEBS Lett 533, 79-88 (2003) (Pubitemid 36206386)
-
(2003)
FEBS Letters
, vol.533
, Issue.1-3
, pp. 79-88
-
-
Bruzzone, R.1
Veronesi, V.2
Gomes, D.3
Bicego, M.4
Duval, N.5
Marlin, S.6
Petit, C.7
D'Andrea, P.8
White, T.W.9
-
52
-
-
0031949442
-
Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss
-
DOI 10.1086/301807
-
Philip M. Kelley, Djuana J. Harris, Brett C. Comer, James W. Askew, Thomas W. Fowler, Shelley D. Smith, William J. Kimberling: Novel mutations in the connexin 26 Gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss. Am J Hum Genet 62, 792-799 (1998) (Pubitemid 28194320)
-
(1998)
American Journal of Human Genetics
, vol.62
, Issue.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
-
53
-
-
0030696315
-
Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: Implications for genetic studies in isolated populations
-
DOI 10.1093/hmg/6.12.2163
-
Minerva M. Carrasquillo, Joel Zlotogora, Saleh Barges, Aravinda Chakravarti: 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) (Pubitemid 27477960)
-
(1997)
Human Molecular Genetics
, vol.6
, Issue.12
, pp. 2163-2172
-
-
Carrasquillo, M.M.1
Zlotogora, J.2
Barges, S.3
Chakravarti, A.4
-
54
-
-
77951636202
-
Connexin-26 mutations in deafness and skin disease
-
Jack R. Lee, Thomas W. White: Connexin-26 mutations in deafness and skin disease. Expert Rev Mol Med 11, e35 (2009)
-
(2009)
Expert Rev Mol Med
, vol.11
-
-
Lee, J.R.1
White, T.W.2
-
55
-
-
0034536288
-
Genetic testing for hereditary hearing loss: Connexin 26 (GJB2) allele variants and two novel deafness-causing mutations (R32C and 645-648delTAGA)
-
DOI 10.1002/1098-1004(200012)16:6<502::AID-HUMU7>3.0.CO;2-4
-
Sai Prasad, Robert A. Cucci, Glenn E. Green, Richard J.H. Smith: Genetic Testing for Hereditary Hearing Loss: Connexin 26 (GJB2) Allele Variants and Two Novel Deafness-Causing Mutations (R32C and 645-648delTAGA). Hum Mutat 16, 502-508 (2000) (Pubitemid 32001299)
-
(2000)
Human Mutation
, vol.16
, Issue.6
, pp. 502-508
-
-
Prasad, S.1
Cucci, R.A.2
Green, G.E.3
Smith, R.J.H.4
-
56
-
-
9844252338
-
Prelingual deafness: High prevalence of a 30delG mutation in the connexin 26 gene
-
DOI 10.1093/hmg/6.12.2173
-
Françoise Denoyelle, Dominique Weil, Marion A. Maw, Stephen A. Wilcox, Nicholas J. Lench, Denise R. Allen-Powell, Amelia H. Osborn, Hans-Henrik M. Dahl, Anna Middleton, Mark J. Houseman, Catherine Dode, Sandrine Marlin, Amel Boulila-ElGaied, Mohammed Grati, Hammadi Ayadi, Saida BenArab, Pierre Bitoun, Genevieve Lina-Granade, Jacqueline Godet, Mirna Mustapha, Jacques Loiselet, Élie El-Zir, Anne Aubois, Alain Joannard, Jacqueline Levilliers, Érea-Noel Garabedian, Robert F. Mueller, R. J. McKinlay Gardner, Christine Petit: Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene. Hum Mol Genet 6, 2173-2177 (1997) (Pubitemid 27477961)
-
(1997)
Human Molecular Genetics
, vol.6
, Issue.12
, 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
McKinlay Gardner, R.J.28
Petit, C.29
more..
-
57
-
-
0034096496
-
High frequency hearing loss correlated with mutations in the GJB2 gene
-
Stephen A. Wilcox, Kerryn Saunders, Amelia H. Osborn, Angela Arnold, Julia Wunderlich, Therese Kelly, Veronica Collins, Leah J. Wilcox, R.J. McKinlay Gardner, Maria Kamarinos, Barbara Cone-Wesson, Robert Williamson, Hans-Henrik M. Dahl: High frequency hearing loss correlated with mutations in the GJB2 gene. Hum Genet 106, 399-405 (2000) (Pubitemid 30237506)
-
(2000)
Human Genetics
, vol.106
, Issue.4
, pp. 399-405
-
-
Wilcox, S.A.1
Saunders, K.2
Osborn, A.H.3
Arnold, A.4
Wunderlich, J.5
Kelly, T.6
Collins, V.7
Wilcox, L.J.8
McKinlay Gardner, R.J.9
Kamarinos, M.10
Cone-Wesson, B.11
Williamson, R.12
Dahl, H.-H.M.13
-
58
-
-
0034098926
-
Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene
-
DOI 10.1007/s004390051007
-
Raquel Rabionet, Leopoldo Zelante, Nuria Lopez-Bigas, Leonardo D'Agruma, Salvatore Melchionda, Gabriella Restagno, Maria Lourdes Arbones, Paolo Gasparini, Xavier Estivill: Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene. Hum Genet 106, 40-44 (2000) (Pubitemid 30156392)
-
(2000)
Human Genetics
, vol.106
, Issue.1
, pp. 40-44
-
-
Rabionet, R.1
Zelante, L.2
Lopez-Bigas, N.3
D'Agruma, L.4
Melchionda, S.5
Restagno, G.6
Arbones, M.L.7
Gasparini, P.8
Estivill, X.9
-
59
-
-
0035232752
-
Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana
-
Christoph Hamelmann, Geoffrey K. Amedofu, Katrin Albrecht, Birgit Muntau, Annette Gelhaus, George W. Brobby, and Rolf D. Horstmann: Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana. Hum Mutat 18, 84-85 (2001)
-
(2001)
Hum Mutat
, 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
-
60
-
-
0033812813
-
Connexin26 mutations associated with nonsyndromic hearing loss
-
Hong-Joon Park, Si Houn Hahn, Young-Myoung Chun, Keehyun Park, Hee-Nam Kim: Connexin26 mutations associated with nonsyndromic hearing loss. Laryngoscope 110: 1535-1538 (2000)
-
(2000)
Laryngoscope
, vol.110
, pp. 1535-1538
-
-
Park, H.-J.1
Hahn, S.H.2
Chun, Y.-M.3
Park, K.4
Kim, H.-N.5
-
61
-
-
0033577528
-
Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: Implications for genetic counselling
-
DOI 10.1016/S0140-6736(98)11071-1
-
Françoise Denoyelle, Sandrine Marlin, Dominique Weil, Lucien Moatti, Pierre Chauvin, Éréa-Noël Garabédian, Christine Petit: Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling. Lancet 353, 1298-1303 (1999) (Pubitemid 29178779)
-
(1999)
Lancet
, vol.353
, Issue.9161
, pp. 1298-1303
-
-
Denoyelle, F.1
Mariin, S.2
Weil, D.3
Moatti, L.4
Chauvin, P.5
Garabedian, E.-N.6
Petit, C.7
-
62
-
-
0032727332
-
Cx26 deafness: Mutation analysis and clinical variability
-
Alessandra Murgia, Eva Orzan, Roberta Polli, Maddalena Martella, Cinzia Vinanzi, Emanuela Leonardi, Edoardo Arslan, Franco Zacchello: Cx26 deafness: mutation analysis and clinical variability. J Med Genet 36, 829-832 (1999) (Pubitemid 29520572)
-
(1999)
Journal of Medical Genetics
, vol.36
, Issue.11
, pp. 829-832
-
-
Murgia, A.1
Orzan, E.2
Polli, R.3
Martella, M.4
Vinanzi, G.5
Leonardi, E.6
Arslan, E.7
Zacchello, F.8
-
63
-
-
7144228618
-
Identification of mutations in the Connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss
-
DOI 10.1002/(SICI)1098-1004(1998)11:5<387::AID-HUMU6>3.0.CO;2-8
-
Daryl A. Scott, Michelle L. Kraft, Rivka Carmi, Arabandi Ramesh, Khalil Elbedour, Yael Yairi, C.R. Srikumari Srisailapathy , Sally S. Rosengren, Alexander F. Markham, Robert F. Mueller, Nicholas J. Lench, Guy Van Camp, Richard J.H. Smith, Val C. Sheffield: Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss. Hum Mutat 11, 387-394 (1998) (Pubitemid 28196639)
-
(1998)
Human Mutation
, vol.11
, Issue.5
, pp. 387-394
-
-
Scott, D.A.1
Kraft, M.L.2
Carmi, R.3
Ramesh, A.4
Elbedour, K.5
Yairi, Y.6
Srikumari Srisailapathy, C.R.7
Rosengren, S.S.8
Markham, A.F.9
Mueller, R.F.10
Lench, N.J.11
Van Camp, G.12
Smith, R.J.H.13
Sheffield, V.C.14
-
64
-
-
0033597554
-
Three novel connexin26 gene mutations in autosomal recessive nonsyndromic deafness
-
Yuka Fuse, Katsumi Doi, Taro Hasegawa, Ayako Sugii, Hiroshi Hibino and Takeshi Kubo: Three novel connexin26 gene mutations in autosomal recessive nonsyndromic deafness. NeuroReport 10, 1853-1857 (1999) (Pubitemid 29331737)
-
(1999)
NeuroReport
, vol.10
, Issue.9
, pp. 1853-1857
-
-
Fuse, Y.1
Doi, K.2
Hasegawa, T.3
Sugii, A.4
Hibino, H.5
Kubo, T.6
-
65
-
-
0032492217
-
Connexin-26 mutations in sporadic and inherited sensorineural deafness
-
DOI 10.1016/S0140-6736(97)11124-2
-
Xavier Estivill, Paolo Fortina, Saul Surrey, Raquel Rabionet, Salvatore Melchionda, Leonardo D'Agruma, Elaine Mansfield, Eric Rappaport, Nancy Govea, Montse Mila, Leopoldo Zelante, Paolo Gasparini: Connexin-26 mutations in sporadic and inherited sensorineural deafness. Lancet 351, 394-398 (1998) (Pubitemid 28064162)
-
(1998)
Lancet
, vol.351
, Issue.9100
, 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
-
66
-
-
0034892519
-
Recurrent mutations in the deafness gene GJB2 (connexin 26) in British Asian families [2]
-
Sarah Rickard, David P. Kelsell, Tony Sirimana, Kaukab Rajput, Breege MacArdle, Maria Bitner-Glindzicz: Recurrent mutations in the deafness gene GJB2 (connexin 26) in British Asian families. J Med Genet 38, 530-533 (2001) (Pubitemid 32751582)
-
(2001)
Journal of Medical Genetics
, vol.38
, Issue.8
, pp. 530-533
-
-
Rickard, S.1
Kelsell, D.P.2
Sirimana, T.3
Rajput, K.4
MacArdle, B.5
Bitner-Glindzicz, M.6
-
67
-
-
0034677194
-
Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese population
-
DOI 10.1002/(SICI)1096-8628(20000117)90:2<141::AID-AJMG10>3.0.CO;2- G
-
Takayuki Kudo, Katsuhisa Ikeda, Shigeo Kure, Yoichi Matsubara, Takeshi Oshima, Ken-ichi Watanabe, Tetsuaki Kawase, Kuniaki Narisawa, Tomonori Takasaka: Novel Mutations in the Connexin 26 Gene (GJB2) Responsible for Childhood Deafness in the Japanese Population. Am J Med Genet 90, 141-145 (2000) (Pubitemid 30030567)
-
(2000)
American Journal of Medical Genetics
, vol.90
, Issue.2
, pp. 141-145
-
-
Kudo, T.1
Ikeda, K.2
Kure, S.3
Matsubara, Y.4
Oshima, T.5
Watanabe, K.-I.6
Kawase, T.7
Narisawa, K.8
Takasaka, T.9
-
68
-
-
0033575109
-
Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness
-
DOI 10.1001/jama.281.23.2211
-
Glenn E. Green, Daryl A. Scott, Joshua M. McDonald, George G. Woodworth, Val C. Sheffield, Richard J.H. Smith: Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness. JAMA 281, 2211-2216 (1999) (Pubitemid 29275704)
-
(1999)
Journal of the American Medical Association
, vol.281
, Issue.23
, 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
-
69
-
-
0036524027
-
Genetics of congenital deafness in the Palestinian population: Multiple connexin 26 alleles with shared origins in the Middle East
-
DOI 10.1007/s00439-001-0674-2
-
Hashem Shahin, Tom Walsh, Tama Sobe, Eric Lynch, Mary-Claire King, Karen B. Avraham, Moien Kanaan: 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) (Pubitemid 36067450)
-
(2002)
Human Genetics
, vol.110
, Issue.3
, 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
-
70
-
-
33646159552
-
High prevalence of the IVS 1 + 1 G to A/GJB2 mutation among Czech hearing impaired patients with monoallelic mutation in the coding region of GJB2
-
Pavel Seeman, Iva Sakmaryová: High prevalence of the IVS 1 + 1 G to A/GJB2 mutation among Czech hearing impaired patients with monoallelic mutation in the coding region of GJB2. Clin Genet 69, 410-413 (2006)
-
(2006)
Clin Genet
, vol.69
, pp. 410-413
-
-
Seeman, P.1
Sakmaryová, I.2
-
71
-
-
35848958382
-
M34T and V37I mutations in GJB2 associated hearing impairment: Evidence for pathogenicity and reduced penetrance
-
DOI 10.1002/ajmg.a.31982
-
Agnieszka Pollak, Agata Skórka, Malgorzata Mueller-Malesinska, Grazyna Kostrzewa, Bartlomiej Kisiel, Jaroslaw Waligóra, Pawel Krajewski, Monika Oldak, Lech Korniszewski, Henryk Skarzynski, Rafal Ploski: M34T and V37I mutations in GJB2 associated hearing impairment: evidence for pathogenicity and reduced penetrance. Am J Med Genet 143A, 2534-2543 (2007) (Pubitemid 350058165)
-
(2007)
American Journal of Medical Genetics, Part A
, vol.143
, Issue.21
, pp. 2534-2543
-
-
Pollak, A.1
Skorka, A.2
Mueller-Malesinska, M.3
Kostrzewa, G.4
Kisiel, B.5
Waligora, J.6
Krajewski, P.7
Oldak, M.8
Korniszewski, L.9
Skarzynski, H.10
Ploski, R.11
-
72
-
-
33947640972
-
The c.IVS1+1G>A mutation inthe GJB2 gene is prevalent and large deletions involving the GJB6 gene are not present in the Turkish population
-
Asli Sirmaci, Duygu Akcayoz-Duman, Mustafa Tekin: The c.IVS1+1G
-
(2006)
Journal of Genetics
, vol.85
, Issue.3
, pp. 213-216
-
-
Sirmaci, A.1
Akcayoz-Duman, D.2
Tekin, M.3
-
73
-
-
2942737398
-
The frequency of GJB2 mutations and the δ (GJB6-D13S1830) deletion as a cause of autosomal recessive non-syndromic deafness in the Kurdish population [3]
-
DOI 10.1111/j.1399-0004.2004.00262.x
-
Nejat Mahdieh, Carla Nishimura, K Ali-Madadi, Yasser Riazalhosseini, H. Yazdan, Sanaz Arzhangi, Khadijeh Jalalvand, Ahmad Ebrahimi, S. Kazemi, Richard J.H. Smith, Hossein Najmabadi: The frequency of GJB2 mutations and the del(GJB6-D13S1830) deletion as a cause of autosomal recessive non-syndromic deafness in the Kurdish population. Clin Genet 65, 506-508 (2004) (Pubitemid 38786876)
-
(2004)
Clinical Genetics
, vol.65
, Issue.6
, pp. 506-508
-
-
Mahdieh, N.1
Nishimura, C.2
Ali-Madadi, K.3
Riazalhosseini, Y.4
Yazdan, H.5
Arzhangi, S.6
Jalalvand, K.7
Ebrahimi, A.8
Kazemi, S.9
Smith, R.J.H.10
Najmabadi, H.11
-
74
-
-
36348942860
-
A novel hearing loss-related mutation occurring in the GJB2 basal promoter
-
DOI 10.1136/jmg.2007.050682
-
Tiago D. Matos, Helena Caria, Helena Simoes-Teixeira, Trond Aasen, Regina Nickel, Daniel J. Jagger, Assunçao O'Neill, David P. Kelsell, Graça Fialho: A novel hearingloss-related mutation occurring in the GJB2 basal promoter. J Med Genet 44, 721-725 (2007) (Pubitemid 350155460)
-
(2007)
Journal of Medical Genetics
, vol.44
, Issue.11
, pp. 721-725
-
-
Matos, T.D.1
Caria, H.2
Simoes-Teixeira, H.3
Aasen, T.4
Nickel, R.5
Jagger, D.J.6
O'Neill, A.7
Kelsell, D.P.8
Fialho, G.9
-
75
-
-
51849123641
-
GJB2 and hearing impairment: Promoter defects do not explain the excess of monoallelic mutations
-
Agnieszka Pollak, Malgorzata Mueller-Malesinska, Agata Skorka, Grazyna Kostrzewa, Monika Oldak, Lech Korniszewski, Henryk Skarzynski, Rafal Ploski: GJB2 and hearing impairment: promoter defects do not explain the excess of monoallelic mutations. J Med Genet 45, 607-608 (2008)
-
(2008)
J Med Genet
, vol.45
, pp. 607-608
-
-
Pollak, A.1
Mueller-Malesinska, M.2
Skorka, A.3
Kostrzewa, G.4
Oldak, M.5
Korniszewski, L.6
Skarzynski, H.7
Ploski, R.8
-
76
-
-
67650725656
-
A new large deletion in the DFNB1 locus causes nonsyndromic hearing loss
-
Delphine Feldmann, Cedric Le Marechal, Laurence Jonard, Patrick Thierry, Cecile Czajka, Remy Couderc, Claude Ferec, Françoise Denoyelle, Sandrine Marlin, Florence Fellmann: A new large deletion in the DFNB1 locus causes nonsyndromic hearing loss. Eur J Med Genet 52, 195-200 (2009)
-
(2009)
Eur J Med Genet
, vol.52
, pp. 195-200
-
-
Feldmann, D.1
Le Marechal, C.2
Jonard, L.3
Thierry, P.4
Czajka, C.5
Couderc, R.6
Ferec, C.7
Denoyelle, F.8
Marlin, S.9
Fellmann, F.10
-
77
-
-
17044396386
-
Gene structure and promoter analysis of the human GJB6 gene encoding connexin30
-
Guilherme M. Essenfelder, Gaelle Larderet, Gilles Waksman, Jerome Lamartine: Gene structure and promoter analysis of the human GJB6 gene encoding connexin30. Gene 350, 33-40 (2005)
-
(2005)
Gene
, vol.350
, pp. 33-40
-
-
Essenfelder, G.M.1
Larderet, G.2
Waksman, G.3
Lamartine, J.4
-
78
-
-
0035513485
-
A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in nonsyndromic deafness: A novel founder mutation in Ashkenazi jews
-
Israela Lerer, Michal Sagi, Ziva Ben-Neriah, Tieling Wang, Haya Levi, Dvorah Abeliovich: A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in nonsyndromic deafness: a novel founder mutation in Ashkenazi jews. Hum Mutat 18, 460 (2001)
-
(2001)
Hum Mutat
, vol.18
, pp. 460
-
-
Lerer, I.1
Sagi, M.2
Ben-Neriah, Z.3
Wang, T.4
Levi, H.5
Abeliovich, D.6
-
79
-
-
0037165262
-
A deletion involving the connexin 30 gene in nonsyndromic hearing impairment
-
DOI 10.1056/NEJMoa012052
-
Ignacio del Castillo, Manuela Villamar, Miguel A. Moreno-Pelayo, Francisco J. del Castillo, Araceli Alvarez, Dolores Telleria, Ibis Menendez, Felipe Moreno: A deletion involving the connexin 30 gene in nonsyndromic hearing impairment. N Engl J Med 346, 243-249 (2002) (Pubitemid 34438863)
-
(2002)
New England Journal of Medicine
, vol.346
, Issue.4
, pp. 243-249
-
-
Del Castillo, I.1
Villamar, M.2
Moreno-Pelayo, M.A.3
Del Castillo, F.J.4
Alvarez, A.5
Telleria, D.6
Menendez, I.7
Moreno, F.8
-
80
-
-
85047699401
-
A large deletion including most of GJB6 in recessive non syndromic deafness: A digenic effect?
-
DOI 10.1038/sj/ejhg/5200762
-
Nathalie Pallares-Ruiz, Patricia Blanchet, Michel Mondain, Mireille Claustres, Anne-Françoise Roux: A large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect? Eur J Hum Genet 10, 72-76 (2002) (Pubitemid 34229053)
-
(2002)
European Journal of Human Genetics
, vol.10
, Issue.1
, pp. 72-76
-
-
Pallares-Ruiz, N.1
Blanchet, P.2
Mondain, M.3
Claustres, M.4
Roux, A.-F.5
-
81
-
-
9144251659
-
Prevalence and Evolutionary Origins of the del(GJB6-D13S1830) Mutation in the DFNB1 Locus in Hearing-Impaired Subjects: A Multicenter Study
-
DOI 10.1086/380205
-
Ignacio del Castillo, Miguel A. Moreno-Pelayo, Francisco J. del Castillo, Zippora Brownstein, Sandrine Marlin, Quint Adina, David J. Cockburn, Arti Pandya, Kirby R. Siemering, G. Parker Chamberlin, Ester Ballana, Wim Wuyts, Andrea T. Maciel-Guerra, Araceli Alvarez, Manuela Villamar, Mordechai Shohat, Dvorah Abeliovich, Hans-Henrik M. Dahl, Xavier Estivill, Paolo Gasparini, Tim Hutchin, Walter E. Nance, Edi L. Sartorato, Richard J.H. Smith, Guy Van Camp, Karen B. Avraham, Christine Petit, Felipe Moreno: Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing impaired subjects: a multicenter study. Am J Hum Genet 73, 1452-1458 (2003) (Pubitemid 38037436)
-
(2003)
American Journal of Human Genetics
, vol.73
, Issue.6
, pp. 1452-1458
-
-
Del Castillo, I.1
Moreno-Pelayo, M.A.2
Del Castillo, F.J.3
Brownstein, Z.4
Marlin, S.5
Adina, Q.6
Cockburn, D.J.7
Pandya, A.8
Siemering, K.R.9
Chamberlin, G.P.10
Ballana, E.11
Wuyts, W.12
Maciel-Guerra, A.T.13
Alvarez, A.14
Villamar, M.15
Shohat, M.16
Abeliovich, D.17
Dahl, H.-H.M.18
Estivill, X.19
Gasparini, P.20
Hutchin, T.21
Nance, W.E.22
Sartorato, E.L.23
Smith, R.J.H.24
Van Camp, G.25
Avraham, K.B.26
Petit, C.27
Moreno, F.28
more..
-
82
-
-
22244489070
-
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
-
DOI 10.1136/jmg.2004.028324
-
Francisco J. del Castillo, Montserrat Rodriguez-Ballesteros, Araceli Alvarez, Tim Hutchin, Leonardi E, Camila A. de Oliveira, Hela Azaiez, Zippora Brownstein, Mathew R. Avenarius, Sandrine Marlin, Arti Pandya, Hashem Shahin, Kirby R. Siemering, Dominique Weil, Wim Wuyts, Luis A. Aguirre, Yolanda Martin, Miguel A. Moreno-Pelayo, Manuela Villamar, Karen B. Avraham, Hans-Henrik M. Dahl, Moien Kanaan, Walter E. Nance, Christine Petit, Richard J.H. Smith, Guy Van Camp, Edi L. Sartorato, Alessandra Murgia, Felipe Moreno, Ignacio del Castillo: 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 nonsyndromic hearing impairment. J Med Genet 42, 588-594 (2005) (Pubitemid 40993836)
-
(2005)
Journal of Medical Genetics
, vol.42
, Issue.7
, pp. 588-594
-
-
Del Castillo, F.J.1
Rodriguez-Ballesteros, M.2
Alvarez, A.3
Hutchin, T.4
Leonardi, E.5
De Oliveira, C.A.6
Azaiez, H.7
Brownstein, Z.8
Avenarius, M.R.9
Marlin, S.10
Pandya, A.11
Shahin, H.12
Siemering13
Weil, D.14
Wuyts, W.15
Aguirre, L.A.16
Marlin, Y.17
Moreno-Pelayo, M.A.18
Villamar, M.19
Avraham, K.B.20
Dahl, H.-H.M.21
Kanaan, M.22
Nance, W.E.23
Petit, C.24
Smith, R.J.H.25
Van Camp, G.26
Sartorato, E.L.27
Murgia, A.28
Moreno, F.29
Del Castillo, I.30
more..
-
83
-
-
0029954685
-
Molecular cloning and functional expression of mouse connexin-30, a gap junction gene highly expressed in adult brain and skin
-
DOI 10.1074/jbc.271.30.17903
-
Edgar Dahl, Dieter Manthey, Ye Chen, Hans-Jürgen Schwarz, Young Sook Chang, Peter A. Lalley, Bruce J. Nicholson, Klaus Willecke: Molecular cloning and functional expression of mouse connexin-30, a gap junction gene highly expressed in adult brain and skin. J Biol Chem 271, 17903-17910 (1996) (Pubitemid 26250770)
-
(1996)
Journal of Biological Chemistry
, vol.271
, Issue.30
, pp. 17903-17910
-
-
Dahl, E.1
Manthey, D.2
Chen, Y.3
Schwarz, H.-J.4
Chang, Y.S.5
Lalley, P.A.6
Nicholson, B.J.7
Willecke, K.8
-
84
-
-
0032846415
-
Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus [2]
-
DOI 10.1038/12612
-
Anna Grifa, Carsten A. Wagner, Lucrezia D'Ambrosio, Salvatore Melchionda, Francesco Bernardi, Nuria Lopez-Bigas, Raquel Rabionet, Mariona Arbones, Matteo Della Monica, Xavier Estivill, Leopoldo Zelante, Florian Lang, Paolo Gasparini: Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus. Nat Genet 23, 16-18 (1999) (Pubitemid 29418780)
-
(1999)
Nature Genetics
, vol.23
, Issue.1
, pp. 16-18
-
-
Grifa, A.1
A Wagner, C.2
D'Ambrosio, L.3
Melchionda, S.4
Bernardi, F.5
Lopez-Bigas, N.6
Rabionet, R.7
Arbones, M.8
Della Monica, M.9
Estivill, X.10
Zelante, L.11
Lang, F.12
Gasparini, P.13
-
85
-
-
12244300886
-
Connexin30 (Gjb6)-deficiency causes severe hearing impairment and lack of endocochlear potential
-
DOI 10.1093/hmg/ddg001
-
Barbara Teubner, Vincent Michel, Jorg Pesch, Jurgen Lautermann, Martine Cohen-Salmon, Goran Sohl, Klaus Jahnke, Elke Winterhager, Claus Herberhold, Jean-Pierre Hardelin, Christine Petit, Klaus Willecke: Connexin30 (Gjb6)-deficiency causes severe hearing impairment and lack of endocochlear potential. Hum Mol Genet 12, 13-21 (2003) (Pubitemid 36097711)
-
(2003)
Human Molecular Genetics
, vol.12
, Issue.1
, pp. 13-21
-
-
Teubner, B.1
Michel, V.2
Pesch, J.3
Lautermann, J.4
Cohen-Salmon, M.5
Sohl, G.6
Jahnke, K.7
Winterhager, E.8
Herberhold, C.9
Hardelin, J.-P.10
Petit, C.11
Willecke, K.12
-
86
-
-
0042123872
-
Molecular mechanism of a frequent genetic form of deafness [8]
-
DOI 10.1056/NEJMc030327
-
Vincent Michel, Jean-Pierre Hardelin, Christine Petit. Molecular mechanism of a frequent genetic form of deafness. N Engl J Med 349, 716-717 (2003) (Pubitemid 36976012)
-
(2003)
New England Journal of Medicine
, vol.349
, Issue.7
, pp. 716-717
-
-
Michel, V.1
Hardelin, J.-P.2
Petit, C.3
-
87
-
-
28144444402
-
GJB2 mutations and degree of hearing loss: A multicenter study
-
DOI 10.1086/497996
-
Rikkert L. Snoeckx, Patrick L.M. Huygen, Delphine Feldmann, Sandrine Marlin, Françoise Denoyelle, Jaroslaw Waligora, Malgorzata Mueller-Malesinska, Agneszka Pollak, Rafal Ploski, Alessandra Murgia, Eva Orzan, Pierangela Castorina, Umberto Ambrosetti, Ewa Nowakowska-Szyrwinska, Jerzy Bal, Wojciech Wiszniewski, Andreas R. Janecke, Doris Nekahm-Heis, Pavel Seeman, Olga Bendova, Margaret A. Kenna, Anna Frangulov, Heidi L. Rehm, Mustafa Tekin, Armagan Incesulu, Hans-Henrik M. Dahl, Desirée du Sart, Lucy Jenkins, Deirdre Lucas, Maria Bitner-Glindzicz, Karen B. Avraham, Zippora Brownstein, Ignacio del Castillo, Felipe Moreno, Nikolaus Blin, Markus Pfister, Istvan Sziklai, Timea Toth, Philip M Kelley, Edward S. Cohn, Lionel Van Maldergem, Pascale Hilbert, Anne-Françoise Roux, Michel Mondain, Lies H. Hoefsloot, Cor WRJ Cremers, Tuija Löppönen, Heikki Löppönen, Agnete Parving, Karen Gronskov, Iris Schrijver, Joseph Roberson, Francesca Gualandi, Alessandro Martini, Geneviève Lina-Granade, Nathalie Pallares-Ruiz, Céu Correia, Graça Fialho, Kim Cryns, Nele Hilgert, Paul Van de Heyning, Carla J Nishimura, Richard J.H. Smith, Guy Van Camp: GJB2 mutations and degree of hearing loss: a multi-center study. Am J Hum Genet 77, 945-957 (2005) (Pubitemid 41698516)
-
(2005)
American Journal of Human Genetics
, vol.77
, Issue.6
, pp. 945-957
-
-
Snoeckx, R.L.1
Huygen, P.L.M.2
Feldmann, D.3
Marlin, S.4
Denoyelle, F.5
Waligora, J.6
Mueller-Malesinska, M.7
Pollak, A.8
Ploski, R.9
Murgia, A.10
Orzan, E.11
Castorina, P.12
Ambrosetti, U.13
Nowakowska-Szyrwinska, E.14
Bal, J.15
Wiszniewski, W.16
Janecke, A.R.17
Nekahm-Heis, D.18
Seeman, P.19
Bendova, O.20
Kenna, M.A.21
Frangulov, A.22
Rehm, H.L.23
Tekin, M.24
Incesulu, A.25
Dahl, H.-H.M.26
Du Sart, D.27
Jenkins, L.28
Lucas, D.29
Bitner-Glindzicz, M.30
Avraham, K.B.31
Brownstein, Z.32
Del Castillo, I.33
Moreno, F.34
Blin, N.35
Pfister, M.36
Sziklai, I.37
Toth, T.38
Kelley, P.M.39
Cohn, E.S.40
Van Maldergem, L.41
Hilbert, P.42
Roux, A.-F.43
Mondain, M.44
Hoefsloot, L.H.45
Cremers, C.W.R.J.46
Lopponen, T.47
Lopponen, H.48
Parving, A.49
Gronskov, K.50
Schrijver, I.51
Roberson, J.52
Gualandi, F.53
Martini, A.54
Lina-Granade, G.55
Pallares-Ruiz, N.56
Correia, C.57
Fialho, G.58
Cryns, K.59
Hilgert, N.60
Van De Heyning, P.61
Nishimura, C.J.62
Smith, R.J.H.63
Van Camp, G.64
more..
-
88
-
-
70349312353
-
The digenic hypothesis unraveled: The GJB6 del(GJB6-D13S1830) mutation causes allele-specific loss of GJB2 expression in cis
-
Juan Rodriguez-Paris, Iris Schrijver: The digenic hypothesis unraveled: the GJB6 del(GJB6-D13S1830) mutation causes allele-specific loss of GJB2 expression in cis. Biochem Biophys Res Commun 389, 354-359 (2009)
-
(2009)
Biochem Biophys Res Commun
, vol.389
, pp. 354-359
-
-
Rodriguez-Paris, J.1
Schrijver, I.2
-
89
-
-
33745274810
-
Expression of GJB2 and GJB6 is reduced in a novel DFNB1 allele
-
DOI 10.1086/505333
-
Ellen Wilch, Mei Zhu, Kirk B. Burkhart, Martha Regier, Jill L. Elfenbein, Rachel A. Fisher, Karen H. Friderici: Expression of GJB2 and GJB6 is reduced in a novel DFNB1 allele. Am J Hum Genet 79, 174-179 (2006) (Pubitemid 43927390)
-
(2006)
American Journal of Human Genetics
, vol.79
, Issue.1
, pp. 174-179
-
-
Wilch, E.1
Zhu, M.2
Burkhart, K.B.3
Regier, M.4
Elfenbein, J.L.5
Fisher, R.A.6
Friderici, K.H.7
-
90
-
-
77952717704
-
A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expression
-
Ellen Wilch, Hela Azaiez, Rachel A. Fisher, Jill Elfenbein, Alessandra Murgia, Ralf Birkenhäger, Hanno Bolz, Sueli M. Da Silva-Costa, Ignacio del Castillo, Thomas Haaf, Lies Hoefsloot, Hannie Kremer, Christian Kubisch, Cédric Le Maréchal, Arti Pandya, Edi L. Sartorato, Eberhard Schneider, Guy Van Camp, Wim Wuyts, Richard J.H. Smith, Karen H. Friderici: A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expression. Clin Genet 78, 267-274 (2010)
-
(2010)
Clin Genet
, vol.78
, pp. 267-274
-
-
Wilch, E.1
Azaiez, H.2
Fisher, R.A.3
Elfenbein, J.4
Murgia, A.5
Birkenhäger, R.6
Bolz, H.7
Da Silva-Costa, S.M.8
Del Castillo, I.9
Haaf, T.10
Hoefsloot, L.11
Kremer, H.12
Kubisch, C.13
Le Maréchal, C.14
Pandya, A.15
Sartorato, E.L.16
Schneider, E.17
Van Camp, G.18
Wuyts, W.19
Smith, R.J.H.20
Friderici, K.H.21
more..
-
91
-
-
9844245885
-
Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans
-
DOI 10.1093/hmg/6.9.1605
-
Leopoldo Zelante, Paolo Gasparini, Xavier Estivill, Salvatore Melchionda, Leonardo D'Agruma, Nancy Govea, Monserrat Milá, Matteo Della Monica, Jaber Lutfi, Mordechai Shohat, Elaine Mansfield, Kathleen Delgrosso, Eric Rappaport, Saul Surrey, Paolo Fortina: Connexin26 mutations associated with the most common form of nonsyndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans. Hum Mol Genet 6, 1605-1609 (1997) (Pubitemid 27397040)
-
(1997)
Human Molecular Genetics
, vol.6
, Issue.9
, 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
-
92
-
-
0036516906
-
Connexin 26 preverbal hearing impairment: Mutation prevalence and heterozygosity in a selected population
-
Eva Orzan, Alessandra Murgia, Roberta Polli, Maddalena Martella, Alberto Mazza, Franco Zacchello, Gregorio Babighian: Connexin 26 preverbal hearing impairment: mutation prevalence and heterozygosity in a selected population. Int J Audiol 41, 120-124 (2002) (Pubitemid 37390985)
-
(2002)
International Journal of Audiology
, vol.41
, Issue.2
, pp. 120-124
-
-
Orzan, E.1
Murgia, A.2
Polli, R.3
Martella, M.4
Mazza, A.5
Zacchello, F.6
Babighian, G.7
-
93
-
-
18544388829
-
Connexin 26 mutations in cases of sensorineural deafness in eastern Austria
-
Klemens Frei, Karoly Szuhai, Trevor Lucas, Klara Weipoltshammer, Christian Schofer, Reinhard Ramsebner, Wolf-Dieter Baumgartner, Anton K Raap, Reginald Bittner, Franz J. Wachtler, Karin Kirschhofer: Connexin 26 mutations in cases of sensorineural deafness in eastern Austria. Eur J Hum Genet 10, 427-432 (2002)
-
(2002)
Eur J Hum Genet
, vol.10
, pp. 427-432
-
-
Frei, K.1
Szuhai, K.2
Lucas, T.3
Weipoltshammer, K.4
Schofer, C.5
Ramsebner, R.6
Baumgartner, W.-D.7
Raap, A.K.8
Bittner, R.9
Wachtler, F.J.10
Kirschhofer, K.11
-
94
-
-
0037009264
-
Prevalence of GJB2 mutations in prelingual deafness in the Greek population
-
Andreas Pampanos, John Economides, Vassiliki Iliadou, Polyxeni Neou, Paulos Leotsakos, Nikolaos Voyiatzis, Nikolaos Eleftheriades, Michael Tsakanikos, Thalia Antoniadi, Angeliki Hatzaki, Irene Konstantopoulou, Drakoulis Yannoukakos, Karen Gronskov, Karen Brondum-Nielsen, Maria Grigoriadou, Jolanda Gyftodimou, Theophilos Iliades, Antonios Skevas, Michael B. Petersen: Prevalence of GJB2 mutations in prelingual deafness in the Greek population. Int J Pediatr Otorhinolaryngol 65, 101-108 (2002)
-
(2002)
Int J Pediatr Otorhinolaryngol
, vol.65
, pp. 101-108
-
-
Pampanos, A.1
Economides, J.2
Iliadou, V.3
Neou, P.4
Leotsakos, P.5
Voyiatzis, N.6
Eleftheriades, N.7
Tsakanikos, M.8
Antoniadi, T.9
Hatzaki, A.10
Konstantopoulou, I.11
Yannoukakos, D.12
Gronskov, K.13
Brondum-Nielsen, K.14
Grigoriadou, M.15
Gyftodimou, J.16
Iliades, T.17
Skevas, A.18
Petersen, M.B.19
-
95
-
-
2542482799
-
Molecular epidemiology of DFNB1 deafness in France
-
Anne-Françoise Roux, Nathalie Pallares-Ruiz, Anne Vielle, Valerie Faugere, Carine Templin, Dorothee Leprevost, Françoise Artieres, Genevieve Lina, Nicolas Molinari, Patricia Blanchet, Michel Mondain, Mireille Claustres: Molecular epidemiology of DFNB1 deafness in France. BMC Med Genet 5, 5 (2004)
-
(2004)
BMC Med Genet
, vol.5
, pp. 5
-
-
Roux, A.-F.1
Pallares-Ruiz, N.2
Vielle, A.3
Faugere, V.4
Templin, C.5
Leprevost, D.6
Artieres, F.7
Lina, G.8
Molinari, N.9
Blanchet, P.10
Mondain, M.11
Claustres, M.12
-
96
-
-
4344627625
-
Spectrum and frequencies of mutations in the GJB2 (Cx26) gene among 156 Czech patients with pre-lingual deafness
-
DOI 10.1111/j.1399-0004.2004.00283.x
-
Pavel Seeman, M Malikova, D Raskova, O Bendova, D Groh, M Kubalkova, I Sakmaryova, E Seemanova, Z Kabelka: Spectrum and frequencies of mutations in the GJB2 (Cx26) gene among 156 Czech patients with prelingual deafness. Clin Genet 66, 152-157 (2004) (Pubitemid 39117523)
-
(2004)
Clinical Genetics
, vol.66
, Issue.2
, pp. 152-157
-
-
Seeman, P.1
Malikova, M.2
Raskova, D.3
Bendova, O.4
Groh, D.5
Kubalkova, M.6
Sakmaryova, I.7
Seemanova, E.8
Kabelka, Z.9
-
97
-
-
21244432046
-
GJB2 and GJB6 mutations: Genotypic and phenotypic correlations in a large cohort of hearing-impaired patients
-
DOI 10.1001/archotol.131.6.481
-
Sandrine Marlin, Delphine Feldmann, Helene Blons, Natalie Loundon, Isabelle Rouillon, Sebastien Albert, Pierre Chauvin, Erea-Noel Garabedian, Remy Couderc, Sylvie Odent, Alain Joannard, Sebastien Schmerber, Bruno Delobel, Jacques Leman, Hubert Journel, Helene Catros, Cedric Lemarechal, Helene Dollfus, Marie-Madeleine Eliot, Jean-Louis Delaunoy, Albert David, Catherine Calais, Valerie Drouin-Garraud, Marie-Françoise Obstoy, Cyril Goizet, Françoise Duriez, Florence Fellmann, Jocelyne Helias, Jacqueline Vigneron, Bettina Montaut, Dominique Matin-Coignard, Laurence Faivre, Clarisse Baumann, Patricia Lewin, Christine Petit, Françoise Denoyelle: GJB2 and GJB6 mutations: Genotypic and phenotypic correlations in a large cohort of hearingimpaired patients. Arch Otolaryngol Head Neck Surg 131, 481-487 (2005) (Pubitemid 40989603)
-
(2005)
Archives of Otolaryngology - Head and Neck Surgery
, vol.131
, Issue.6
, pp. 481-487
-
-
Marlin, S.1
Feldmann, D.2
Blons, H.3
Loundon, N.4
Rouillon, I.5
Albert, S.6
Chauvin, P.7
Garabedian, E.-N.8
Couderc, R.9
Odent, S.10
Joannard, A.11
Schmerber, S.12
Delobel, B.13
Leman, J.14
Journel, H.15
Catros, H.16
Lemarechal, C.17
Dollfus, H.18
Eliot, M.-M.19
Delaunoy, J.-L.20
David, A.21
Calais, C.22
Drouin-Garraud, V.23
Obstoy, M.-F.24
Goizet, C.25
Duriez, F.26
Fellmann, F.27
Helias, J.28
Vigneron, J.29
Montaut, B.30
Matin-Coignard, D.31
Faivre, L.32
Baumann, C.33
Lewin, P.34
Petit, C.35
Denoyelle, F.36
more..
-
98
-
-
60749110729
-
Hearing loss features in GJB2 biallelic mutations and GJB2/GJB6 digenic inheritance in a large Italian cohort
-
Elona Cama, Salvatore Melchionda, Teresa Palladino, Massimo Carella, Rosamaria Santarelli, Elisabetta Genovese, Filippo Benettazzo, Leopoldo Zelante, Edoardo Arslan: Hearing loss features in GJB2 biallelic mutations and GJB2/GJB6 digenic inheritance in a large Italian cohort. Int J Audiol 48, 12-17 (2009)
-
(2009)
Int J Audiol
, vol.48
, pp. 12-17
-
-
Cama, E.1
Melchionda, S.2
Palladino, T.3
Carella, M.4
Santarelli, R.5
Genovese, E.6
Benettazzo, F.7
Zelante, L.8
Arslan, E.9
-
99
-
-
77949453020
-
GJB2 mutations and genotypephenotype correlation in 335 patients from Germany with nonsyndromic sensorineural hearing loss: Evidence for additional recessive mutations not detected by current methods
-
Oliver Bartsch, A. Vatter, Ulrich Zechner, Nicolai Kohlschmidt, C. Wetzig, A. Baumgart, S. Nospes, Thomas Haaf, Annerose Keilmann: GJB2 mutations and genotypephenotype correlation in 335 patients from Germany with nonsyndromic sensorineural hearing loss: evidence for additional recessive mutations not detected by current methods. Audiol Neurotol 15:375-382 (2010)
-
(2010)
Audiol Neurotol
, vol.15
, pp. 375-382
-
-
Bartsch, O.1
Vatter, A.2
Zechner, U.3
Kohlschmidt, N.4
Wetzig, C.5
Baumgart, A.6
Nospes, S.7
Haaf, T.8
Keilmann, A.9
-
100
-
-
0034019466
-
The prevalence and expression of inherited connexin 26 mutations associated with nonsyndromic hearing loss in the Israeli population
-
DOI 10.1007/s004390051009
-
Tama Sobe, Sarah Vreugde, Hashem Shahin, Mira Berlin, Noa Davis, Moien Kanaan, Yuval Yaron, Avi Orr-Urtreger, Moshe Frydman, Mordechai Shohat, Karen B. Avraham: The prevalence and expression of inherited connexin 26 mutations associated with nonsyndromic hearing loss in the Israeli population. Hum Genet 106, 50-57 (2000) (Pubitemid 30156394)
-
(2000)
Human Genetics
, vol.106
, Issue.1
, pp. 50-57
-
-
Sobe, T.1
Vreugde, S.2
Shahin, H.3
Berlin, M.4
Davis, N.5
Kanaan, M.6
Yaron, Y.7
Orr-Urtreger, A.8
Frydman, M.9
Shohat, M.10
Avraham, K.B.11
-
101
-
-
0043133524
-
Frequencies of gap- and tight-junction mutations in Turkish families with autosomal-recessive non-syndromic hearing loss
-
DOI 10.1034/j.1399-0004.2003.00101.x
-
Oya Uyguner, Melike Emiroglu, Abdullah Üzümcü, Gunter Hafiz, A. Ghanbari, Nermin Baserer, Memnune Yuksel-Apak, Bernd Wollnik: Frequencies of gap- and tight-junction mutations in Turkish families with autosomal-recessive non-syndromic hearing loss. Clin Genet 64, 65-69 (2003) (Pubitemid 36949951)
-
(2003)
Clinical Genetics
, vol.64
, Issue.1
, pp. 65-69
-
-
Uyguner, O.1
Emiroglu, M.2
Uzumcu, A.3
Hafiz, G.4
Ghanbari, A.5
Baserer, N.6
Yuksel-Apak, M.7
Wollnik, B.8
-
102
-
-
0035489776
-
Autosomal recessive non-syndromic hearing loss in the Lebanese population: Prevalence of the 30delG mutation and report of two novel mutations in the connexin 26 (GJB2) gene
-
Myrna Mustapha, Nabiha Salem, Valerie Delague, Eliane Chouery, Michella Ghassibeh, Myriam Rai, Jacques Loiselet, Christine Petit, Andre Megarbane: Autosomal recessive non-syndromic hearing loss in the Lebanese population: prevalence of the 30delG mutation and report of two novel mutations in the connexin 26 (GJB2) gene. J Med Genet 38, e36 (2001)
-
(2001)
J Med Genet
, vol.38
-
-
Mustapha, M.1
Salem, N.2
Delague, V.3
Chouery, E.4
Ghassibeh, M.5
Rai, M.6
Loiselet, J.7
Petit, C.8
Megarbane, A.9
-
103
-
-
77950095765
-
GJB2 and GJB6 genes: Molecular study and identification of novel GJB2 mutations in the hearing-impaired Argentinean population
-
Viviana Dalamon, Vanesa Lotersztein, Agustina Beheran, Marcela Lipovsek, Fernando Diamante, Norma Pallares, Liliana Francipane, Gustavo Frechtel, Bibiana Paoli, Enrique Mansilla, Vicente Diamante, Ana B. Elgoyhen: GJB2 and GJB6 genes: molecular study and identification of novel GJB2 mutations in the hearing-impaired Argentinean population. Audiol Neurotol 15, 194-202 (2010)
-
(2010)
Audiol Neurotol
, vol.15
, pp. 194-202
-
-
Dalamon, V.1
Lotersztein, V.2
Beheran, A.3
Lipovsek, M.4
Diamante, F.5
Pallares, N.6
Francipane, L.7
Frechtel, G.8
Paoli, B.9
Mansilla, E.10
Diamante, V.11
Elgoyhen, A.B.12
-
104
-
-
0034856656
-
Connexin 26 studies in patients with sensorineural hearing loss
-
Margaret A. Kenna, Bai-Lin Wu, Douglas A. Cotanche, Bruce R. Korf, Heidi L. Rehm: Connexin 26 studies in patients with sensorineural hearing loss. Arch Otolaryngol Head Neck Surg 127, 1037-1042 (2001) (Pubitemid 32848178)
-
(2001)
Archives of Otolaryngology - Head and Neck Surgery
, vol.127
, Issue.9
, pp. 1037-1042
-
-
Kenna, M.A.1
Wu, B.-L.2
Cotanche, D.A.3
Korf, B.R.4
Rehm, H.L.5
-
105
-
-
0042090621
-
Genotypic and phenotypic correlations of DFNB1-related hearing impairment in the Midwestern United States
-
DOI 10.1001/archotol.129.8.836
-
Lynne H.Y. Lim, John K. Bradshaw, Yingshi Guo, Valentina Pilipenko, Colm Madden, David Ingala, Mehdi Keddache, Daniel I. Choo, Richard Wenstrup, John H. Greinwald: Genotypic and phenotypic correlations of DFNB1-related hearing impairment in the Midwestern United States. Arch Otolaryngol Head Neck Surg 129, 836-840 (2003) (Pubitemid 36966427)
-
(2003)
Archives of Otolaryngology - Head and Neck Surgery
, vol.129
, Issue.8
, pp. 836-840
-
-
Lim, L.H.Y.1
Bradshaw, J.K.2
Guo, Y.3
Pilipenko, V.4
Madden, C.5
Ingala, D.6
Keddache, M.7
Choo, D.I.8
Wenstrup, R.9
Greinwald Jr., J.H.10
-
106
-
-
10744224474
-
Frequency and distribution of GJB2 (connexin 26) and GJBG (connexin 30) mutations in a large North American repository of deaf probands
-
DOI 10.1097/01.GIM.0000078026.01140.68
-
Arti Pandya, Kathleen S. Arnos, Xia J. Xia, Katherine O. Welch, Susan H. Blanton, Thomas B. Friedman, Guillermina Garcia-Sanchez, Xiu Z. Liu, Robert Morell, Walter E. Nance: Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands. Genet Med 5, 295-303 (2003) (Pubitemid 36998687)
-
(2003)
Genetics in Medicine
, vol.5
, Issue.4
, pp. 295-303
-
-
Pandya, A.1
Arnos, K.S.2
Xia, X.J.3
Welch, K.O.4
Blanton, S.H.5
Friedman, T.B.6
Garcia Sanchez, G.7
Liu, X.Z.8
Morell, R.9
Nance, W.E.10
-
107
-
-
5044238154
-
GJB2: The spectrum of deafness-causing allele variants and their phenotype
-
DOI 10.1002/humu.20084
-
Hela Azaiez, G. Parker Chamberlin, Stephanie M. Fischer, Chelsea L. Welp, Sai D. Prasad, R. Thomas Taggart, Ignacio del Castillo, Guy Van Camp, Richard J. H. Smith: GJB2: The spectrum of deafness-causing allele variants and their phenotype. Hum Mutat 24, 305-311 (2004) (Pubitemid 39336636)
-
(2004)
Human Mutation
, vol.24
, Issue.4
, pp. 305-311
-
-
Azaiez, H.1
Chamberlin, G.P.2
Fischer, S.M.3
Welp, C.L.4
Prasad, S.D.5
Taggart, R.T.6
Del Castillo, I.7
Van Camp, G.8
Smith, R.J.H.9
-
108
-
-
0036590216
-
Deafness resulting from mutations in the GJB2 (connexin 26) gene in Brazilian patients
-
DOI 10.1034/j.1399-0004.2002.610506.x
-
Camila A. Oliveira, Andrea T. Maciel-Guerra, Edi L. Sartorato. Deafness resulting from mutations in the GJB2 (connexin 26) gene in Brazilian patients. Clin Genet 61, 354-358 (2002). (Pubitemid 36372665)
-
(2002)
Clinical Genetics
, vol.61
, Issue.5
, pp. 354-358
-
-
Oliveira, C.A.1
Maciel-Guerra, A.T.2
Sartorato, E.L.3
-
109
-
-
64849085254
-
Prevalence of GJB2 (Connexin-26) and GJB6 (Connexin-30) mutations in a cohort of 300 Brazilian hearing-impaired individuals: Implications for diagnosis and genetic counseling
-
Ana C. Batissoco, Ronaldo S. Abreu-Silva, Maria Cristina C. Braga, Karina Lezirovitz, Valter Della-Rosa, Tabith Alfredo, Paulo A. Otto, Regina C. Mingroni-Netto: Prevalence of GJB2 (Connexin-26) and GJB6 (Connexin-30) mutations in a cohort of 300 Brazilian hearing-impaired individuals: implications for diagnosis and genetic counseling. Ear Hear 30, 1-7 (2009)
-
(2009)
Ear Hear
, vol.30
, pp. 1-7
-
-
Batissoco, A.C.1
Abreu-Silva, R.S.2
Braga, M.C.C.3
Lezirovitz, K.4
Della-Rosa, V.5
Alfredo, T.6
Otto, P.A.7
Mingroni-Netto, R.C.8
-
110
-
-
65649116240
-
GJB2 mutation spectrum in 2063 Chinese patients with nonsyndromic hearing impairment
-
Pu Dai, Fei Yu, Bing Han, Xuezhong Liu, Guojian Wang, Qi Li, Yongyi Yuan, Xin Liu, Deliang Huang, Dongyang Kang, Xin Zhang, Huijun Yuan, Kun Yao, Jinsheng Hao, Jia He, Yong He, Youqin Wang, Qing Ye, Youjun Yu, Hongyan Lin, Lijia Liu, Wei Deng, Xiuhui Zhu, Yiwen You, Jinghong Cui, Nongsheng Hou, Xuehai Xu, Jin Zhang, Liang Tang, Rendong Song, Yongjun Lin, Shuanzhu Sun, Ruining Zhang, Hao Wu, Yuebing Ma, Shanxiang Zhu, Bai-lin Wu, Dongyi Han, Lee-Jun C Wong: GJB2 mutation spectrum in 2063 Chinese patients with nonsyndromic hearing impairment. J Translat Med 7, 26 (2009)
-
(2009)
J Translat Med
, vol.7
, pp. 26
-
-
Dai, P.1
Yu, F.2
Han, B.3
Liu, X.4
Wang, G.5
Li, Q.6
Yuan, Y.7
Liu, X.8
Huang, D.9
Kang, D.10
Zhang, X.11
Yuan, H.12
Yao, K.13
Hao, J.14
He, J.15
He, Y.16
Wang, Y.17
Ye, Q.18
Yu, Y.19
Lin, H.20
Liu, L.21
Deng, W.22
Zhu, X.23
You, Y.24
Cui, J.25
Hou, N.26
Xu, X.27
Zhang, J.28
Tang, L.29
Song, R.30
Lin, Y.31
Sun, S.32
Zhang, R.33
Wu, H.34
Ma, Y.35
Zhu, S.36
Wu, B.-L.37
Han, D.38
Wong, L.-J.C.39
more..
-
111
-
-
78149278754
-
A large cohort study of GJB2 mutations in Japanese hearing loss patients
-
Keita Tsukada, Shinya Nishio, Shin-ichi Usami and the Deafness Gene Study Consortium: A large cohort study of GJB2 mutations in Japanese hearing loss patients. Clin Genet 78, 464-470 (2010)
-
(2010)
Clin Genet
, vol.78
, pp. 464-470
-
-
Tsukada, K.1
Nishio, S.2
Usami, S.-I.3
-
112
-
-
0035920607
-
Prevalence and nature of connexin 26 mutations in children with non-syndromic deafness
-
Hans-Henrik M. Dahl, Kerryn Saunders, Therese M. Kelly, Amelia H. Osborn, Stephen Wilcox, Barbara Cone-Wesson, Julia L. Wunderlich, Desiree Du Sart, Maria Kamarinos, R.J. McKinlay Gardner, Shirley Dennehy, Robert Williamson, Neil Vallance, Patricia Mutton: Prevalence and nature of connexin 26 mutations in children with nonsyndromic deafness. Med J Australia 175, 191-194 (2001) (Pubitemid 32791338)
-
(2001)
Medical Journal of Australia
, vol.175
, Issue.4
, pp. 191-194
-
-
Dahl, H.-H.M.1
Saunders, K.2
Kelly, T.M.3
Osborn, A.H.4
Wilcox, S.5
Cone-Wesson, B.6
Wunderlich, J.L.7
Du Sart, D.8
Kamarinos, M.9
McKinlay Gardner, R.J.10
Dennehy, S.11
Williamson, R.12
Vallance, N.13
Mutton, P.14
-
113
-
-
20044375751
-
GJB2 mutations: Passage through Iran
-
DOI 10.1002/ajmg.a.30576
-
Hossein Najmabadi, Carla Nishimura, Kimia Kahrizi, Yasser Riazalhosseini, Mahdi Malekpour, Ahmad Daneshi, Mohammad Farhadi, Marzieh Mohseni, Nejat Mahdieh, Ahmad Ebrahimi, Niloofar Bazazzadegan, Anoosh Naghavi, Matthew Avenarius, Sanaz Arzhangi, Richard J.H. Smith: GJB2 mutations: passage through Iran. Am J Med Genet 133A, 132-137 (2005) (Pubitemid 40279778)
-
(2005)
American Journal of Medical Genetics
, vol.133 A
, Issue.2
, pp. 132-137
-
-
Najmabadi, H.1
Nishimura, C.2
Kahrizi, K.3
Riazalhosseini, Y.4
Malekpour, M.5
Daneshi, A.6
Farhadi, M.7
Mohseni, M.8
Mahdieh, N.9
Ebrahimi, A.10
Bazazzadegan, N.11
Naghavi, A.12
Avenarius, M.13
Arzhangi, S.14
Smith, R.J.H.15
-
114
-
-
0041321501
-
Screening of families with autosomal recessive non-syndromic hearing impairment (ARNSHI) for mutations in GJB2 gene: Indian scenario
-
Manjula Maheshwari, R. Vijaya, Manju Ghosh, Shivaram Shastri, Madhulika Kabra, P.S.N. Menon: Screening of families with autosomal recessive nonsyndromic hearing impairment (ARNSHI) for mutations in GJB2 gene: Indian scenario. Am J Med Genet 120A, 180-184 (2003) (Pubitemid 37063794)
-
(2003)
American Journal of Medical Genetics
, vol.120 A
, Issue.2
, pp. 180-184
-
-
Maheshwari, M.1
Vijaya, R.2
Ghosh, M.3
Shastri, S.4
Kabra, M.5
Menon, P.S.N.6
-
115
-
-
0043280848
-
Contribution of connexin26 (GJB2) mutations and founder effect to non-syndromic hearing loss in India
-
M. RamShankar, S. Girirajan, O. Dagan, H.M. Ravi Shankar, Rajeev Jalvi, Raghunath R. Rangasayee, Karen B. Avraham, Anuranjan Anand: Contribution of connexin26 (GJB2) mutations and founder effect to non-syndromic hearing loss in India. J Med Genet 40, e68 (2003)
-
(2003)
J Med Genet
, vol.40
-
-
Ramshankar, M.1
Girirajan, S.2
Dagan, O.3
Ravi Shankar, H.M.4
Jalvi, R.5
Rangasayee, R.R.6
Avraham, K.B.7
Anand, A.8
-
116
-
-
12744269573
-
Low prevalence of connexin 26 (GJB2) variants in Pakistani families with autosomal recessive non-syndromic hearing impairment
-
Regie Lyn P. Santos, Muhammad Wajid, Thanh L. Pham, J. Hussan, Ghazanfar Ali, Wasim Ahmad, Suzanne M. Leal: Low prevalence of connexin 26 (GJB2) variants in Pakistani families with autosomal recessive non-syndromic hearing impairment. Clin Genet 67, 61-68 (2005)
-
(2005)
Clin Genet
, vol.67
, pp. 61-68
-
-
Santos, R.L.P.1
Wajid, M.2
Pham, T.L.3
Hussan, J.4
Ali, G.5
Ahmad, W.6
Leal, S.M.7
-
117
-
-
77951908830
-
GJB2 Mutations in Mongolia: Complex alleles, low frequency, and reduced fitness of the deaf
-
Mustafa Tekin, Xia-Juan Xia, Radnaabazar Erdenetungalag, Filiz B. Cengiz,
-
(2010)
Ann Hum Genet
, vol.74
, pp. 155-164
-
-
Tekin, M.1
Xia, X.-J.2
Erdenetungalag, R.3
Cengiz, F.B.4
White, T.W.5
Radnaabazar, J.6
Dangaasuren, B.7
Tastan, H.8
Nance, W.E.9
Pandya, A.10
-
118
-
-
20044386157
-
GJB2 (connexin 26) mutations are not a major cause of hearing loss in the Indonesian population
-
DOI 10.1002/ajmg.a.30726
-
Rikkert L. Snoeckx, Bulantrisna Djelantik, Lut Van Laer, Paul Van de Heyning, Guy Van Camp: GJB2 (connexin 26) mutations are not a major cause of hearing loss in the Indonesian population. Am J Med Genet 135A, 126-129 (2005) (Pubitemid 40769960)
-
(2005)
American Journal of Medical Genetics
, vol.135 A
, Issue.2
, pp. 126-129
-
-
Snoeckx, R.L.1
Djelantik, B.2
Van Laer, L.3
Van De Heyning, P.4
Van Camp, G.5
-
119
-
-
0035650583
-
Absence of deafness-associated connexin-26 (GJB2) gene mutations in the Omani population
-
Mehmet Simsek, Nadia Al-Wardy, Aisha Al-Khayat, Muralitharan Shanmugakonar, Talal Al-Bulushi, Mazin Al-Khabory, Sheikha Al-Mujeni, Samia Al-Harthi: Absence of deafness-associated connexin-26 (GJB2) gene mutations in the Omani population. Hum Mutat 18, 545-546 (2001)
-
(2001)
Hum Mutat
, vol.18
, pp. 545-546
-
-
Simsek, M.1
Al-Wardy, N.2
Al-Khayat, A.3
Shanmugakonar, M.4
Al-Bulushi, T.5
Al-Khabory, M.6
Al-Mujeni, S.7
Al-Harthi, S.8
-
120
-
-
17544402026
-
High carrier frequency of the 35delG deafness mutation in European populations
-
DOI 10.1038/sj.ejhg.5200406
-
Paolo Gasparini, Raquel Rabionet, Guido Barbujani, Salvatore Melchionda, Michael Petersen, Karen Brondum-Nielsen, Andres Metspalu, Eneli Oitmaa, Marina Pisano, Paolo Fortina, Leopoldo Zelante, Xavier Estivill and the Genetic Analysis Consortium of GJB2 35delG: High carrier frequency of the 35delG deafness mutation in European populations. Eur J Hum Genet 8, 19-23 (2000) (Pubitemid 30113791)
-
(2000)
European Journal of Human Genetics
, vol.8
, Issue.1
, 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
-
121
-
-
3643059295
-
Mutations in the connexin 26 gene (GJB2) among Ashkenazi jews with nonsyndromic recessive deafness
-
DOI 10.1056/NEJM199811193392103
-
Robert J. Morell, Hung J. Kim, Linda J. Hood, Leah Goforth, Karen Friderici, Rachel Fisher, Guy Van Camp, Charles I. Berlin, Carole Oddoux, Harry Ostrer, Bronya Keats, Thomas B. Friedman: Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness. N Engl J Med 339, 1500-1505 (1998) (Pubitemid 28543498)
-
(1998)
New England Journal of Medicine
, vol.339
, Issue.21
, 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
San Agustin, T.13
Dumon, J.14
-
122
-
-
0034881345
-
A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment
-
Lut Van Laer, Paul Coucke, Robert F. Mueller, Goele Caethoven, Kris Flothmann, Sai D. Prasad, G. Parker Chamberlin, Mark Houseman, Graham R. Taylor, C.M. Van de Heyning, Erik Fransen, J. Rowland, Robert A. Cucci, Richard J.H. Smith, Guy Van Camp: A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment. J Med Genet 38, 515-518 (2001) (Pubitemid 32751579)
-
(2001)
Journal of Medical Genetics
, vol.38
, Issue.8
, 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.H.14
Van Camp, G.15
-
123
-
-
0038270170
-
Connexin 26 35delG does not represent a mutational hotspot
-
Caryn R. Rothrock, Alessandra Murgia, Edi L. Sartorato, Emanuela Leonardi, Sainan Wei, Sarah L. Lebeis, Laura E. Yu, Jill L. Elfenbein, Rachel A. Fisher, Karen H. Friderici: Connexin 26 35delG does not represent a mutational hotspot. Hum Genet 113, 18-23 (2003) (Pubitemid 36869034)
-
(2003)
Human Genetics
, vol.113
, Issue.1
, pp. 18-23
-
-
Rothrock, C.R.1
Murgia, A.2
Sartorato, E.L.3
Leonardi, E.4
Wei, S.5
Lebeis, S.L.6
Yu, L.E.7
Elfenbein, J.L.8
Fisher, R.A.9
Friderici, K.H.10
-
124
-
-
22244457367
-
Analysis of GJB2 mutation: Evidence for a Mediterranean ancestor for the 35delG mutation [4]
-
DOI 10.1111/j.1399-0004.2005.00474.x
-
Hanen Belguith, S. Hajji, N Salem, Ilhem Charfeddine, Imed Lahmar, Mohamed Ben Amor, K. Ouldim, Eliane Chouery, Nabil Driss, Mohammed Drira, André Mégarbané, Ahmed Rebai, A. Sefiani, Saber Masmoudi, Hammadi Ayadi: Analysis of GJB2 mutation: evidence for a Mediterranean ancestor for the 35delG mutation. Clin Genet 68, 188-189 (2005) (Pubitemid 40990634)
-
(2005)
Clinical Genetics
, vol.68
, Issue.2
, pp. 188-189
-
-
Belguith, H.1
Hajji, S.2
Salem, N.3
Charfeddine, I.4
Lahmar, I.5
Amor, M.B.6
Ouldim, K.7
Chouery, E.8
Driss, N.9
Drira, M.10
Megarbane, A.11
Rebai, A.12
Sefiani, A.13
Masmoudi, S.14
Ayadi, H.15
-
125
-
-
56049122218
-
Strong linkage disequilibrium for the frequent GJB2 35delG mutation in the Greek population
-
Haris Kokotas, Lut Van Laer, Maria Grigoriadou, Vassiliki Iliadou, John Economides, Stella Pomoni, Andreas Pampanos, Nikos Eleftheriades, Elisabeth Ferekidou, Stavros Korres, Aglaia Giannoulia-Karantana, Guy Van Camp, Michael B. Petersen: Strong linkage disequilibrium for the frequent GJB2 35delG mutation in the Greek population. Am J Med Genet 146A, 2879-2884 (2008)
-
(2008)
Am J Med Genet
, vol.146 A
, pp. 2879-2884
-
-
Kokotas, H.1
Van Laer, L.2
Grigoriadou, M.3
Iliadou, V.4
Economides, J.5
Pomoni, S.6
Pampanos, A.7
Eleftheriades, N.8
Ferekidou, E.9
Korres, S.10
Giannoulia-Karantana, A.11
Van Camp, G.12
Petersen, M.B.13
-
126
-
-
56049085790
-
The analysis of three markers flanking GJB2 gene suggests a single origin of the most common 35delG mutation in the Moroccan population
-
Omar Abidi, Redouane Boulouiz, Halima Nahili, Laila Imken, Hassan Rouba, Abdelaziz Chafik, Abdelhamid Barakat: The analysis of three markers flanking GJB2 gene suggests a single origin of the most common 35delG mutation in the Moroccan population. Biochem Biophys Res Commun 377, 971-974 (2008)
-
(2008)
Biochem Biophys Res Commun
, vol.377
, pp. 971-974
-
-
Abidi, O.1
Boulouiz, R.2
Nahili, H.3
Imken, L.4
Rouba, H.5
Chafik, A.6
Barakat, A.7
-
127
-
-
17844395222
-
The 35delG mutation in the connexin 26 gene (GJB2) associated with congenital deafness: European carrier frequencies and evidence for its origin in ancient Greece
-
DOI 10.1089/gte.2005.9.20
-
Gerard Lucotte, Florent Dieterlen: The 35delG mutation in the connexin 26 gene (GJB2) associated with congenital deafness: European carrier frequencies and evidence for its origin in ancient Greece. Genet Test 9, 20-25 (2005) (Pubitemid 40586425)
-
(2005)
Genetic Testing
, vol.9
, Issue.1
, pp. 20-25
-
-
Lucotte, G.1
Dieterlen, F.2
-
128
-
-
77950979971
-
Hypothesizing an ancient Greek origin of the GJB2 35delG mutation: Can science meet history?
-
Haris Kokotas, Maria Grigoriadou, Manuela Villamar, Aglaia Giannoulia-Karantana, Ignacio del Castillo, Michael B. Petersen. Hypothesizing an ancient Greek origin of the GJB2 35delG mutation: can science meet history? Genet Test Mol Biomarkers 14, 183-187 (2010)
-
(2010)
Genet Test Mol Biomarkers
, vol.14
, pp. 183-187
-
-
Kokotas, H.1
Grigoriadou, M.2
Villamar, M.3
Giannoulia-Karantana, A.4
Del Castillo, I.5
Petersen, M.B.6
-
129
-
-
0034013087
-
Prevalent connexin 26 gene (GJB2) mutations in Japanese
-
Satoko Abe, Shin-ichi Usami, Hideichi Shinkawa, Philip M Kelley, William J Kimberling: Prevalent connexin 26 gene (GJB2) mutations in Japanese. J Med Genet 37, 41-43 (2000) (Pubitemid 30245873)
-
(2000)
Journal of Medical Genetics
, vol.37
, Issue.1
, pp. 41-43
-
-
Abe, S.1
Usami, S.-I.2
Shinkawa, H.3
Kelley, P.M.4
Kimberling, W.J.5
-
130
-
-
0038237455
-
GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation
-
Akihiro Ohtsuka, Isamu Yuge, Shinobu Kimura, Atsushi Namba, Satoko Abe, Lut Van Laer, Guy Van Camp, Shin-ichi Usami: GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation. Hum Genet 112, 329-333 (2003) (Pubitemid 36869059)
-
(2003)
Human Genetics
, vol.112
, Issue.4
, pp. 329-333
-
-
Ohtsuka, A.1
Yuge, I.2
Kimura, S.3
Namba, A.4
Abe, S.5
Van Laer, L.6
Van Camp, G.7
Usami, S.-I.8
-
131
-
-
0036821083
-
The prevalence of connexin 26 (GJB2) mutations in the Chinese population
-
DOI 10.1007/s00439-002-0811-6
-
Xue Z. Liu, Xia J. Xia, Xiao M. Ke, Xiao M. Ouyang, Li L. Du, Yu H. Liu, Simon Angeli, Fred F. Telischi, Walter E. Nance, Thomas Balkany, Li R. Xu: The prevalence of connexin 26 (GJB2) mutations in the Chinese population. Hum Genet 111, 394-397 (2002) (Pubitemid 36075066)
-
(2002)
Human Genetics
, vol.111
, Issue.4-5
, pp. 394-397
-
-
Liu, X.Z.1
Xia, X.J.2
Ke, X.M.3
Ouyang, X.M.4
Du, L.L.5
Liu, Y.H.6
Angeli, S.7
Telischi, F.F.8
Nance, W.E.9
Balkany, T.10
Xu, L.R.11
-
132
-
-
10744230689
-
Evidence of a founder effect for the 235delC mutation of GJB2 (connexin 26) in east Asians
-
DOI 10.1007/s00439-003-1018-1
-
Denise Yan, Hong-Joon Park, Xiao M. Ouyang, Arti Pandya, Katsumi Doi, Raadnabazar Erdenetungalag, Li L. Du, Naoki Matsushiro, Walter E. Nance, Andrew J. Griffith, Xue Z. Liu: Evidence of a founder effect for the 235delC mutation of GJB2 (connexin 26) in east Asians. Hum Genet 114, 44-50 (2003) (Pubitemid 38165535)
-
(2003)
Human Genetics
, vol.114
, Issue.1
, pp. 44-50
-
-
Yan, D.1
Park, H.-J.2
Ouyang, X.M.3
Pandya, A.4
Doi, K.5
Erdenetungalag, R.6
Du, L.L.7
Matsushiro, N.8
Nance, W.E.9
Griffith, A.J.10
Liu, X.Z.11
-
133
-
-
0032546033
-
Connexin 26 R143W mutation associated with recessive nonsyndromic sensorineural deafness in Africa [4]
-
DOI 10.1056/NEJM199802193380812
-
George W. Brobby, Bertram Muller-Myhsok, Rolf D. Horstmann: Connexin 26 R143W mutation associated with recessive nonsyndromic sensorineural deafness in Africa. N Engl J Med 338, 548-550 (1998) (Pubitemid 28103143)
-
(1998)
New England Journal of Medicine
, vol.338
, Issue.8
, pp. 548-550
-
-
Brobby, G.W.1
Muller-Myhsok, B.2
Horstmann, R.D.3
-
134
-
-
0036887084
-
Selection for deafness?
-
Christian G. Meyer, Geoffrey K. Amedofu, Johanna M. Brandner, Dieter Pohland, Christian Timmann, Rolf D. Horstmann: Selection for deafness? Nat Med 8, 1332-1333 (2002)
-
(2002)
Nat Med
, vol.8
, pp. 1332-1333
-
-
Meyer, C.G.1
Amedofu, G.K.2
Brandner, J.M.3
Pohland, D.4
Timmann, C.5
Horstmann, R.D.6
-
135
-
-
36249011407
-
A deafness-associated mutant human connexin 26 improves the epithelial barrier in vitro
-
DOI 10.1007/s00232-007-9025-0
-
Y.K. Stella Man, Caroline Trolove, Daniel Tattersall, Anna C. Thomas, Annie Papakonstantinopoulou, Drashnika Patel, Claire Scott, Jiehan Chong, Daniel J. Jagger, Edel A. O'Toole, Harshad Navsaria, Michael A. Curtis, David P. Kelsell: A deafness associated mutant human connexin 26 improves the epithelial barrier in vitro. J Membr Biol 218, 29-37 (2007) (Pubitemid 350132115)
-
(2007)
Journal of Membrane Biology
, vol.218
, Issue.1-3
, pp. 29-37
-
-
Man, Y.K.S.1
Trolove, C.2
Tattersall, D.3
Thomas, A.C.4
Papakonstantinopoulou, A.5
Patel, D.6
Scott, C.7
Chong, J.8
Jagger, D.J.9
O'Toole, E.A.10
Navsaria, H.11
Curtis, M.A.12
Kelsell, D.P.13
-
136
-
-
1442329625
-
Low frequency of deafness-associated GJB2 variants in Kenya and Sudan and novel GJB2 variants
-
Nagla M.A. Gasmelseed, Martin Schmidt, Mubarak M.A. Magzoub, Muthure Macharia, Osman M. Elmustafa, Benson Ototo, Enno Winkler, Gerd Ruge, Rolf D. Horstmann, Christian G. Meyer: Low frequency of deafness-associated GJB2 variants in Kenya and Sudan and novel GJB2 variants. Hum Mutat 23, 206-207 (2004)
-
(2004)
Hum Mutat
, vol.23
, pp. 206-207
-
-
Gasmelseed, N.M.A.1
Schmidt, M.2
Magzoub, M.M.A.3
MacHaria, M.4
Elmustafa, O.M.5
Ototo, B.6
Winkler, E.7
Ruge, G.8
Horstmann, R.D.9
Meyer, C.G.10
-
137
-
-
0033615567
-
High frequency of the deafness-associated 167delT mutation in the connexin 26 (GJB2) gene in Israeli Ashkenazim [2]
-
DOI 10.1002/(SICI)1096-8628(19991029)86:5<499::AID-AJMG19>3.0.CO;2- O
-
Tama Sobe, Porat Erlich, Asher Berry, Michael Korostichevsky, Sarah Vreugde, Karen B. Avraham, Batsheva Bonne-Tamir, Mordechai Shohat: High frequency of the deafness-associated 167delT mutation in the connexin 26 (GJB2) gene in Israeli Ashkenazim. Am J Med Genet 86, 499-500 (1999) (Pubitemid 29503207)
-
(1999)
American Journal of Medical Genetics
, vol.86
, Issue.5
, 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
-
138
-
-
0034614011
-
Contribution of connexin 26 mutations to nonsyndromic deafness in Ashkenazi patients and the variable phenotypic effect of the mutation 167delT
-
Israela Lerer, Michal Sagi, Esther Malamud, Haya Levi, Annick Raas-Rothschild, Dvorah Abeliovich: 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)
-
(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
-
139
-
-
0034973378
-
Nonradioactive detection of the common Connexin 26 167delT and 35delG mutations and frequencies among Ashkenazi Jews
-
DOI 10.1006/mgme.2001.3182
-
Jianli Dong, David R. Katz, Christine M. Eng, Ruth Kornreich, Robert J. Desnick: Nonradioactive detection of the common connexin 26 167delT and 35delG mutations and frequencies among Ashkenazi Jews. Mol Genet Metab 73, 160-163 (2001) (Pubitemid 32550153)
-
(2001)
Molecular Genetics and Metabolism
, vol.73
, Issue.2
, pp. 160-163
-
-
Dong, J.1
Katz, D.R.2
Eng, C.M.3
Kornreich, R.4
Desnick, R.J.5
-
140
-
-
1542286154
-
High frequency of GJB2 mutation W24X among Slovak Romany (Gypsy) patients with non-syndromic hearing loss (NSHL)
-
Gabriel Minarik, Vladimir Ferak, Eva Ferakova, Andrej Ficek, Helena Polakova, Ludevit Kadasi: High frequency of GJB2 mutation W24X among Slovak Romany (Gypsy) patients with non-syndromic hearing loss (NSHL). Gen Physiol Biophys 22, 549-556 (2003) (Pubitemid 38324672)
-
(2003)
General Physiology and Biophysics
, vol.22
, Issue.4
, pp. 549-556
-
-
Minarik, G.1
Ferak, V.2
Ferakova, E.3
Ficek, A.4
Polakova, H.5
Kadasi, L.6
-
141
-
-
24344462548
-
High prevalence of the W24X mutation in the gene encoding connexin-26 (GJB2) in Spanish Romani (gypsies) with autosomal recessive non-syndromic hearing loss
-
DOI 10.1002/ajmg.a.30884
-
Araceli Alvarez, Ignacio del Castillo, Manuela Villamar, Luis A. Aguirre, Anna Gonzalez-Neira, Alicia Lopez-Nevot, Miguel A. Moreno-Pelayo, Felipe Moreno: High prevalence of the W24X mutation in the gene encoding connexin-26 (GJB2) in Spanish Romani (Gypsies) with autosomal recessive nonsyndromic hearing loss. Am J Med Genet 137A, 255-258 (2005) (Pubitemid 41262656)
-
(2005)
American Journal of Medical Genetics
, vol.137 A
, Issue.3
, pp. 255-258
-
-
Alvarez, A.1
Del Castillo, I.2
Villamar, M.3
Aguirre, L.A.4
Gonzalez-Neira, A.5
Lopez-Nevot, A.6
Moreno-Pelayo, M.A.7
Moreno, F.8
-
142
-
-
38149043590
-
Carrier rates of the ancestral Indian W24X mutation in GJB2 in the general Gypsy population and individual subisolates
-
Sonja Bouwer, Dora Angelicheva, David Chandler, Pavel Seeman, Ivailo Tournev, Luba Kalaydjieva: Carrier rates of the ancestral Indian W24X mutation in GJB2 in the general Gypsy population and individual subisolates. Genet Test 11, 455-458 (2007)
-
(2007)
Genet Test
, vol.11
, pp. 455-458
-
-
Bouwer, S.1
Angelicheva, D.2
Chandler, D.3
Seeman, P.4
Tournev, I.5
Kalaydjieva, L.6
-
143
-
-
0033037643
-
Clinical studies of families with hearing loss attributable to mutations in the connexin 26 gene (GJB2/DFNB1)
-
DOI 10.1542/peds.103.3.546
-
Edward S. Cohn, Philip M. Kelley, Thomas W. Fowler, Michael P. Gorga, David M. Lefkowitz, Harold J. Kuehn, G. Bradley Schaefer, Lisa S. Gobar, Francis J. Hahn, Djuana J. Harris, William J. Kimberling: Clinical studies of families with hearing loss attributable to mutations in the connexin 26 gene (GJB2/DFNB1). Pediatrics 103, 546-550 (1999) (Pubitemid 29274498)
-
(1999)
Pediatrics
, vol.103
, Issue.3
, pp. 546-550
-
-
Cohn, E.S.1
Kelley, P.M.2
Fowler, T.W.3
Gorga, M.P.4
Lefkowitz, D.M.5
Kuehn, H.J.6
Schaefer, G.B.7
Gobar, L.S.8
Hahn, F.J.9
Harris, D.J.10
Kimberling, W.J.11
-
144
-
-
12144287717
-
A genotype-phenotype correlation for GJB2 (connexin 26) deafness
-
Kim Cryns, Eva Orzan, Alessandra Murgia, Patrick L.M. Huygen, Felipe Moreno, Ignacio del Castillo, G. Parker Chamberlin, Hela Azaiez, Sai D. Prasad, Robert A. Cucci, Emanuela Leonardi, Rikkert L Snoeckx, Paul J Govaerts, Paul H. Van de Heyning, C.M. Van de Heyning, Richard J.H. Smith, Guy Van Camp: A genotype-phenotype correlation for GJB2 (connexin 26) deafness. J Med Genet 41, 147-154 (2004) (Pubitemid 38337439)
-
(2004)
Journal of Medical Genetics
, vol.41
, Issue.3
, pp. 147-154
-
-
Cryns, K.1
Orzan, E.2
Murgia, A.3
Huygen, P.L.M.4
Moreno, F.5
Del Castillo, I.6
Parker Chamberlin, G.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.H.16
Van Camp, G.17
-
145
-
-
21444440089
-
Audiological features of GJB2 (Connexin 26) deafness
-
DOI 10.1097/00003446-200506000-00011
-
Xue Z. Liu, Arti Pandya, Simon Angeli, Fred F. Telischi, Kathleen S. Arnos, Walter E. Nance, Thomas Balkany: Audiological features of GJB2 (connexin 26) deafness. Ear Hear 26:361-369 (2005) (Pubitemid 40917432)
-
(2005)
Ear and Hearing
, vol.26
, Issue.3
, pp. 361-369
-
-
Liu, X.Z.1
Pandya, A.2
Angeli, S.3
Telischi, F.F.4
Arnos, K.S.5
Nance, W.E.6
Balkany, T.7
-
146
-
-
20144386649
-
Clinical features of patients with GJB2 (connexin 26) mutations: Severity of hearing loss is correlated with genotypes and protein expression patterns
-
DOI 10.1007/s10038-004-0223-7
-
Tomohiro Oguchi, Akihiro Ohtsuka, Shigenari Hashimoto, Aki Oshima, Satoko Abe, Yumiko Kobayashi, Kyoko Nagai, Tatsuo Matsunaga, Satoshi Iwasaki, Takashi Nakagawa, Shin-ichi Usami: Clinical features of patients with GJB2 (connexin 26) mutations: severity of hearing loss is correlated with genotypes and protein expression patterns. J Hum Genet 50:76-83 (2005) (Pubitemid 40468853)
-
(2005)
Journal of Human Genetics
, vol.50
, Issue.2
, pp. 76-83
-
-
Oguchi, T.1
Ohtsuka, A.2
Hashimoto, S.3
Oshima, A.4
Abe, S.5
Kobayashi, Y.6
Nagai, K.7
Matsunaga, T.8
Iwasaki, S.9
Nakagawa, T.10
Usami, S.-I.11
-
147
-
-
19944432265
-
Hearing impairment in Dutch patients with connexin 26 (GJB2) and connexin 30 (GJB6) mutations
-
DOI 10.1016/j.ijporl.2004.08.015, PII S0165587604002885
-
Regie Lyn P. Santos, Yurii S. Aulchenko, Patrick L.M. Huygen, Kim P. van der Donk, Ilse J. de Wijs, Martijn H. Kemperman, Ronald J.C. Admiraal, Hannie Kremer, Lies H. Hoefsloot, Cor W.R.J. Cremers: Hearing impairment in Dutch patients with connexin 26 (GJB2) and connexin 30 (GJB6) mutations. Int J Pediatr Otorhinolaryngol 69, 165-174 (2005) (Pubitemid 40126743)
-
(2005)
International Journal of Pediatric Otorhinolaryngology
, vol.69
, Issue.2
, pp. 165-174
-
-
Santos, R.L.P.1
Aulchenko, Y.S.2
Huygen, P.L.M.3
Van Der Donk, K.P.4
De Wijs, I.J.5
Kemperman, M.H.6
Admiraal, R.J.C.7
Kremer, H.8
Hoefsloot, L.H.9
Cremers, C.W.R.J.10
-
148
-
-
33747881938
-
Effects of GJB2 genotypes on the audiological phenotype: Variability is present for all genotypes
-
DOI 10.1016/j.ijporl.2006.03.015, PII S016558760600108X
-
Burcu O. Hismi, Suna T. Yilmaz, Armagan Incesulu, Mustafa Tekin: Effects of GJB2 genotypes on the audiological phenotype: variability is present for all genotypes. Int J Pediatr Otorhinolaryngol 70, 1687-1694 (2006) (Pubitemid 44291441)
-
(2006)
International Journal of Pediatric Otorhinolaryngology
, vol.70
, Issue.10
, pp. 1687-1694
-
-
Hismi, B.O.1
Yilmaz, S.T.2
Incesulu, A.3
Tekin, M.4
-
149
-
-
56149120893
-
Phenotype/genotype correlations in a DFNB1 cohort with ethnical diversity
-
Simon I. Angeli: Phenotype/genotype correlations in a DFNB1 cohort with ethnical diversity. Laryngoscope 118, 2014-2023 (2008)
-
(2008)
Laryngoscope
, vol.118
, pp. 2014-2023
-
-
Angeli, S.I.1
-
150
-
-
67650085890
-
Analysis of the GJB2 and GJB6 genes in Italian patients with nonsyndromic hearing loss: Frequencies, novel mutations, genotypes, and degree of hearing loss
-
Paola Primignani, Luca Trotta, Pierangela Castorina, Faustina Lalatta, Francesca Sironi, Chiara Radaelli, Dario Degiorgio, Cristina Curcio, Maurizio Travi, Umberto Ambrosetti, Antonio Cesarani, Livia Garavelli, Patrizia Formigoni, Donatella Milani, Alessandra Murri, Domenico Cuda, Domenico A. Coviello: Analysis of the GJB2 and GJB6 genes in Italian patients with nonsyndromic hearing loss: frequencies, novel mutations, genotypes, and degree of hearing loss. Genet Test Mol Biomarkers 13, 209-217 (2009)
-
(2009)
Genet Test Mol Biomarkers
, vol.13
, pp. 209-217
-
-
Primignani, P.1
Trotta, L.2
Castorina, P.3
Lalatta, F.4
Sironi, F.5
Radaelli, C.6
Degiorgio, D.7
Curcio, C.8
Travi, M.9
Ambrosetti, U.10
Cesarani, A.11
Garavelli, L.12
Formigoni, P.13
Milani, D.14
Murri, A.15
Cuda, D.16
Coviello, D.A.17
-
151
-
-
74949118436
-
Audiologic phenotype and progression in GJB2 (Connexin 26) hearing loss
-
Margaret A. Kenna, Henry A. Feldman, Marilyn W. Neault, Anna Frangulov, Bai-Lin Wu, Brian Fligor, Heidi L. Rehm: Audiologic phenotype and progression in GJB2 (Connexin 26) hearing loss. Arch Otolaryngol Head Neck Surg 136, 81-87 (2010)
-
(2010)
Arch Otolaryngol Head Neck Surg
, vol.136
, pp. 81-87
-
-
Kenna, M.A.1
Feldman, H.A.2
Neault, M.W.3
Frangulov, A.4
Wu, B.-L.5
Fligor, B.6
Rehm, H.L.7
-
152
-
-
33750630301
-
Does universal newborn hearing screening identify all children with GJB2 (connexin 26) deafness? Penetrance of GJB2 deafness
-
DOI 10.1097/01.aud.0000240492.78561.d3, PII 0000344620061200000011
-
Virginia W. Norris, Kathleen S. Arnos, Wendy D. Hanks, Xia Xia, Walter E. Nance, Arti Pandya: Does universal newborn hearing screening identify all children with GJB2 (Connexin 26) deafness? Penetrance of GJB2 deafness. Ear Hear 27, 732-741 (2006) (Pubitemid 44691233)
-
(2006)
Ear and Hearing
, vol.27
, Issue.6
, pp. 732-741
-
-
Norris, V.W.1
Arnos, K.S.2
Hanks, W.D.3
Xia, X.4
Nance, W.E.5
Pandya, A.6
-
153
-
-
33846311141
-
Connexin 26 deafness is not always congenital
-
DOI 10.1016/j.ijporl.2006.12.002, PII S0165587606004988
-
Eva Orzan, Alessandra Murgia: Connexin 26 deafness is not always congenital. Int J Pediatr Otorhinolaryngol 71, 501-507 (2007) (Pubitemid 46123589)
-
(2007)
International Journal of Pediatric Otorhinolaryngology
, vol.71
, Issue.3
, pp. 501-507
-
-
Orzan, E.1
Murgia, A.2
-
154
-
-
38149012080
-
Is hearing loss due to mutations in the Connexin 26 gene progressive?
-
Deepika Gopalarao, William J. Kimberling, Walt Jesteadt, Philip M. Kelley, Kathryn L. Beauchaine, Edward S. Cohn: Is hearing loss due to mutations in the Connexin 26 gene progressive? Int J Audiol 47, 11-20 (2008)
-
(2008)
Int J Audiol
, vol.47
, pp. 11-20
-
-
Gopalarao, D.1
Kimberling, W.J.2
Jesteadt, W.3
Kelley, P.M.4
Beauchaine, K.L.5
Cohn, E.S.6
-
155
-
-
52949084653
-
Sudden hearing loss in a family with GJB2 related progressive deafness
-
Haris Kokotas, Maria Theodosiou, George Korres, Maria Grigoriadou, Elisabeth Ferekidou, Aglaia Giannoulia-Karantana, Michael B. Petersen, Stavros Korres: Sudden hearing loss in a family with GJB2 related progressive deafness. Int J Pediatr Otorhinolaryngol 72, 1735-1740 (2008)
-
(2008)
Int J Pediatr Otorhinolaryngol
, vol.72
, pp. 1735-1740
-
-
Kokotas, H.1
Theodosiou, M.2
Korres, G.3
Grigoriadou, M.4
Ferekidou, E.5
Giannoulia-Karantana, A.6
Petersen, M.B.7
Korres, S.8
-
156
-
-
0034884213
-
Connexin 26 gene mutations in congenitally deaf children
-
Sandrine Marlin, Éréa-Noël Garabédian, Gilles Roger, Lucien Moatti, Nicole Matha, Patricia Lewin, Christine Petit, Françoise Denoyelle: Connexin 26 gene mutations in congenitally deaf children. Arch Otolaryngol Head Neck Surg 127, 927-933 (2001)
-
(2001)
Arch Otolaryngol Head Neck Surg
, vol.127
, pp. 927-933
-
-
Marlin, S.1
Garabédian, E.-N.2
Roger, G.3
Moatti, L.4
Matha, N.5
Lewin, P.6
Petit, C.7
Denoyelle, F.8
-
157
-
-
11144357197
-
Clinical evidence of the nonpathogenic nature of the M34T variant in the connexin 26 gene
-
DOI 10.1038/sj.ejhg.5201147
-
Delphine Feldmann, Françoise Denoyelle, Natalie Loundon, Dominique Weil, Erea-Noel Garabedian, Remy Couderc, Alain Joannard, Sebastien Schmerber, Bruno Delobel, Jacques Leman, Hubert Journel, Helene Catros, Claude Ferrec, Valerie Drouin-Garraud, Marie-Françoise Obstoy, Lucien Moati, Christine Petit, Sandrine Marlin: Clinical evidence of the nonpathogenic nature of the M34T variant in the connexin 26 gene. Eur J Hum Genet 12, 279-284 (2004) (Pubitemid 38519341)
-
(2004)
European Journal of Human Genetics
, vol.12
, Issue.4
, pp. 279-284
-
-
Feldmann, D.1
Denoyelle, F.2
Loundon, N.3
Weil, D.4
Garabedian, E.-N.5
Couderc, R.6
Joannard, A.7
Schmerber, S.8
Delobel, B.9
Leman, J.10
Journel, H.11
Catros, H.12
Ferrec, C.13
Drouin-Garraud, V.14
Obstoy, M.-F.15
Moati, L.16
Petit, C.17
Marlin, S.18
-
158
-
-
0034503365
-
The M34T allele variant of Connexin 26
-
DOI 10.1089/109065700750065063
-
Robert A. Cucci, Sai Prasad, Philip M. Kelley, Glenn E. Green, Katrien Storm, Sandra Willocx, Edward S. Cohn, Guy Van Camp, Richard J.H. Smith: The M34T allele variant of connexin 26. Genet Test 4, 335-344 (2000) (Pubitemid 32115323)
-
(2000)
Genetic Testing
, vol.4
, Issue.4
, pp. 335-344
-
-
Cucci, R.A.1
Prasad, S.2
Kelley, P.M.3
Green, G.E.4
Storm, K.5
Willocx, S.6
Cohn, E.S.7
Van Camp, G.8
Smith, R.J.H.9
-
159
-
-
0035138369
-
Genetic analysis of the connexin-26 M34T variant: Identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss
-
Mark J Houseman, Lucy A Ellis, Alistair Pagnamenta,Wei-Li Di, Sarah Rickard, Amelia H Osborn, Hans-Henrik M Dahl, Graham R Taylor, Maria Bitner-Glindzicz, William Reardon, Robert F Mueller, David P Kelsell: Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss. J Med Genet 38, 20-25 (2001) (Pubitemid 32102318)
-
(2001)
Journal of Medical Genetics
, vol.38
, Issue.1
, pp. 20-25
-
-
Houseman, M.J.1
Ellis, L.A.2
Pagnamenta, A.3
Di, W.-L.4
Rickard, S.5
Osborn, A.H.6
Dahl, H.-H.M.7
Taylor, G.R.8
Bitner-Glindzicz, M.9
Reardon, W.10
Mueller, R.F.11
Kelsell, D.P.12
-
160
-
-
33750597137
-
V37I connexin 26 allele in patients with sensorineural hearing loss: Evidence of its pathogenicity
-
DOI 10.1002/ajmg.a.31486
-
C. Huculak, Helene Bruyere, Tanya N. Nelson, Frederick K. Kozak, Sylvie Langlois: V37I connexin 26 allele in patients with sensorineural hearing loss: evidence of its pathogenicity. Am J Med Genet 140A, 2394-2400 (2006) (Pubitemid 44684934)
-
(2006)
American Journal of Medical Genetics, Part A
, vol.140
, Issue.22
, pp. 2394-2400
-
-
Huculak, C.1
Bruyere, H.2
Nelson, T.N.3
Kozak, F.K.4
Laaglois, S.5
-
161
-
-
33751203865
-
Two patients with the V37I/235delC genotype: Are radiographic cochlear anomalies part of the phenotype?
-
DOI 10.1016/j.ijporl.2006.07.015, PII S0165587606002448
-
Iris Schrijver, Kay W. Chang: Two patients with the V37I/235delC genotype: Are radiographic cochlear anomalies part of the phenotype? Int J Pediatr Otorhinolaryngol 70, 2109-2113 (2006) (Pubitemid 44781039)
-
(2006)
International Journal of Pediatric Otorhinolaryngology
, vol.70
, Issue.12
, pp. 2109-2113
-
-
Schrijver, I.1
Chang, K.W.2
-
162
-
-
33751255682
-
The contribution of GJB2 mutations to slight or mild hearing loss in Australian elementary school children
-
DOI 10.1136/jmg.2006.042051
-
Hans-Henrik M. Dahl, Sherryn Tobin, Zeffie Poulakis, Field W. Rickards, X Xu, Lynn Gillam, Joanne Williams, Kerryn Saunders, Barbara Cone-Wesson, Melissa Wake: The contribution of GJB2 mutations to slight or mild hearing loss in Australian elementary school children. J Med Genet 43, 850-855 (2006) (Pubitemid 44787110)
-
(2006)
Journal of Medical Genetics
, vol.43
, Issue.11
, pp. 850-855
-
-
Dahl, H.-H.M.1
Tobin, S.E.2
Poulakis, Z.3
Rickards, F.W.4
Xu, X.5
Gillam, L.6
Williams, J.7
Saunders, K.8
Cone-Wesson, B.9
Wake, M.10
-
163
-
-
62849118980
-
Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene
-
Nele Hilgert, Matthew J. Huentelman, Ashley Q. Thorburn, Erik Fransen, Nele Dieltjens, Malgorzata Mueller-Malesinska, Agnieszka Pollak, Agata Skorka, Jaroslaw Waligora, Rafal Ploski, Pierangela Castorina, Paola Primignani, Umberto Ambrosetti, Alessandra Murgia, Eva Orzan, Arti Pandya, Kathleen Arnos, Virginia Norris, Pavel Seeman, Petr Janousek, Delphine Feldmann, Sandrine Marlin, Françoise Denoyelle, Carla J Nishimura, Andreas Janecke, Doris Nekahm-Heis, Alessandro Martini, Elena Mennucci, Timea Toth, Istvan Sziklai, Ignacio del Castillo, Felipe Moreno, Michael B. Petersen, Vasiliki Iliadou, Mustafa Tekin, Armagan Incesulu, Ewa Nowakowska, Jerzy Bal, Paul Van de Heyning, Anne-Françoise Roux, Catherine Blanchet, Cyril Goizet, Guenaelle Lancelot, Graça Fialho, Helena Caria, Xue Zhong Liu, Ouyang Xiaomei, Paul Govaerts, Karen Gronskov, Karianne Hostmark, Klemens Frei, Ingeborg Dhooge, Stephen Vlaeminck, Erdmute Kunstmann, Lut Van Laer, Richard J.H. Smith, Guy Van Camp: Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene. Eur J Hum Genet 17, 517-524 (2009)
-
(2009)
Eur J Hum Genet
, vol.17
, pp. 517-524
-
-
Hilgert, N.1
Huentelman, M.J.2
Thorburn, A.Q.3
Fransen, E.4
Dieltjens, N.5
Mueller-Malesinska, M.6
Pollak, A.7
Skorka, A.8
Waligora, J.9
Ploski, R.10
Castorina, P.11
Primignani, P.12
Ambrosetti, U.13
Murgia, A.14
Orzan, E.15
Pandya, A.16
Arnos, K.17
Norris, V.18
Seeman, P.19
Janousek, P.20
Feldmann, D.21
Marlin, S.22
Denoyelle, F.23
Nishimura, C.J.24
Janecke, A.25
Nekahm-Heis, D.26
Martini, A.27
Mennucci, E.28
Toth, T.29
Sziklai, I.30
Del Castillo, I.31
Moreno, F.32
Petersen, M.B.33
Iliadou, V.34
Tekin, M.35
Incesulu, A.36
Nowakowska, E.37
Bal, J.38
Van De Heyning, P.39
Roux, A.-F.40
Blanchet, C.41
Goizet, C.42
Lancelot, G.43
Fialho, G.44
Caria, H.45
Liu, X.Z.46
Xiaomei, O.47
Govaerts, P.48
Gronskov, K.49
Hostmark, K.50
Frei, K.51
Dhooge, I.52
Vlaeminck, S.53
Kunstmann, E.54
Van Laer, L.55
Smith, R.J.H.56
Van Camp, G.57
more..
-
164
-
-
9644287853
-
A diagnostic paradigm for childhood idiopathic sensorineural hearing loss
-
DOI 10.1016/j.otohns.2004.06.707, PII S0194599804014500
-
Diego A. Preciado, Lynne H.Y. Lim, Aliza P. Cohen, Colm Madden, David Myer, Chris Ngo, John K. Bradshaw, Louise Lawson, Daniel I. Choo, John H. Greinwald: A diagnostic paradigm for childhood idiopathic sensorineural hearing loss. Otolaryngol Head Neck Surg 131, 804-809 (2004) (Pubitemid 39575932)
-
(2004)
Otolaryngology - Head and Neck Surgery
, vol.131
, Issue.6
, pp. 804-809
-
-
Preciado, D.A.1
Lim, L.H.Y.2
Cohen, A.P.3
Madden, C.4
Myer, D.5
Ngo, C.6
Bradshaw, J.K.7
Lawson, L.8
Choo, D.I.9
Greinwald Jr., J.H.10
-
165
-
-
34249900730
-
In reference to temporal bone imaging in GJB2 deafness [1]
-
DOI 10.1097/MLG.0b013e3180421718, PII 0000553720070600000035
-
Hela Azaiez, Richard J.H. Smith: In reference to temporal bone imaging in GJB2 deafness. Laryngoscope 117: 1127 (2007) (Pubitemid 46869859)
-
(2007)
Laryngoscope
, vol.117
, Issue.6
, pp. 1127
-
-
Azaiez, H.1
Smith, R.J.H.2
-
166
-
-
64849090763
-
Audiologic and temporal bone imaging findings in patients with sensorineural hearing loss and GJB2 Mutations
-
Kenneth H. Lee, Daniel A. Larson, Gordon Shott; Brian Rasmussen; Aliza P. Cohen, Corning Benton, Mark Halsted, Daniel Choo, Jareen Meinzen-Derr, John H. Greinwald: Audiologic and temporal bone imaging findings in patients with sensorineural hearing loss and GJB2 Mutations. Laryngoscope, 119, 554-558 (2009)
-
(2009)
Laryngoscope
, vol.119
, pp. 554-558
-
-
Lee, K.H.1
Larson, D.A.2
Shott, G.3
Rasmussen, B.4
Cohen, A.P.5
Benton, C.6
Halsted, M.7
Choo, D.8
Meinzen-Derr, J.9
Greinwald, J.H.10
-
167
-
-
33845508247
-
Temporal bone imaging in GJB2 deafness
-
DOI 10.1097/01.mlg.0000244389.68568.a7, PII 0000553720061200000015
-
Evan J. Propst, Susan Blaser, Tracy L. Stockley, Robert V. Harrison, Karen A. Gordon, Blake C. Papsin: Temporal bone imaging in GJB2 deafness. Laryngoscope, 116, 2178-2186 (2006) (Pubitemid 44912315)
-
(2006)
Laryngoscope
, vol.116
, Issue.12
, pp. 2178-2186
-
-
Propst, E.J.1
Blaser, S.2
Stockley, T.L.3
Harrison, R.V.4
Gordon, K.A.5
Papsin, B.C.6
-
168
-
-
34249900730
-
In reference to temporal bone imaging in GJB2 deafness [2]
-
DOI 10.1097/MLG.0b013e3180421729, PII 0000553720070600000036
-
Evan J. Propst, Robert V. Harrison, Karen A. Gordon, Blake C. Papsin, Susan Blaser, Tracy L. Stockley: In reply to "In reference to temporal bone imaging in GJB2 deafness". Laryngoscope 117: 1127-1129 (2007) (Pubitemid 46869860)
-
(2007)
Laryngoscope
, vol.117
, Issue.6
, pp. 1127-1129
-
-
Propst, E.J.1
Harrison, R.V.2
Gordon, K.A.3
Papsin, B.C.4
Blaser, S.5
Stockley, T.L.6
-
169
-
-
0033981041
-
Temporal bone histopathology in connexin 26-related hearing loss
-
Andrew I. Jun, Wyman T. McGuirt, Raul Hinojosa, Glenn E. Green, Nathan Fischel-Ghodsian, Richard J.H. Smith: Temporal bone histopathology in connexin 26- related hearing loss. Laryngoscope 110, 269-275 (2000) (Pubitemid 30090860)
-
(2000)
Laryngoscope
, vol.110
, Issue.2
, pp. 269-275
-
-
Jun, A.I.1
McGuirt, W.T.2
Hinojosa, R.3
Green, G.E.4
Fischel-Ghodsian, N.5
Smith, R.J.H.6
-
170
-
-
23044507046
-
Vestibular dysfunction of patients with mutations of connexin 26
-
DOI 10.1097/00001756-200508010-00009
-
Ingo Todt, Hans C. Hennies, Dietmar Basta, Arne Ernst: Vestibular dysfucntion of patients with mutations of connexin 26. NeuroReport 16, 1179-1181 (2005) (Pubitemid 41058464)
-
(2005)
NeuroReport
, vol.16
, Issue.11
, pp. 1179-1181
-
-
Todt, I.1
Hennies, H.C.2
Basta, D.3
Ernst, A.4
-
171
-
-
77956045862
-
Vestibular function of patients with profound deafness related to GJB2 mutation
-
Misato Kasai, Chieri Hayashi, Takashi Iizuka, Ayako Inoshita, Kazusaku Kamiya, Hiroko Okada, Yukinori Nakajima, Kimitaka Kaga, Katsuhisa Ikeda: Vestibular function of patients with profound deafness related to GJB2 mutation. Acta Oto-Laryngologica 130, 990-995 (2010)
-
(2010)
Acta Oto-Laryngologica
, vol.130
, pp. 990-995
-
-
Kasai, M.1
Hayashi, C.2
Iizuka, T.3
Inoshita, A.4
Kamiya, K.5
Okada, H.6
Nakajima, Y.7
Kaga, K.8
Ikeda, K.9
-
172
-
-
0036154590
-
The effects of a connexin 26 mutation - 35delG - On oto-acoustic emissions and brainstem evoked potentials: Homozygotes and carriers
-
DOI 10.1016/S0378-5955(01)00386-0, PII S0378595501003860
-
Batya Engel-Yeger, Suliman Zaaroura, Joel Zlotogora, Stavit Shalev, Yasir Hujeirat, Minerva Carrasquillo, Saleh Barges, Hillel Pratt: The effects of a connexin 26 mutation - 35delG - on oto-acoustic emissions and brainstem evoked potentials: homozygotes and carriers. Hear Res 163, 93-100 (2002) (Pubitemid 34098845)
-
(2002)
Hearing Research
, vol.163
, Issue.1-2
, pp. 93-100
-
-
Engel-Yeger, B.1
Zaaroura, S.2
Zlotogora, J.3
Shalev, S.4
Hujeirat, Y.5
Carrasquillo, M.6
Barges, S.7
Pratt, H.8
-
173
-
-
0037229109
-
Otoacoustic emissions and brainstem evoked potentials in compound carriers of connexin 26 mutations
-
Batya Engel-Yeger, Suliman Zaaroura, Joel Zlotogora, Stavit Shalev, Yasir Hujeirat, Minerva Carrasquillo, B. Saleh, Hillel Pratt: Otoacoustic emissions and brainstem evoked potentials in compound carriers of connexin 26 mutations. Hear Res 175, 140-151 (2003)
-
(2003)
Hear Res
, vol.175
, pp. 140-151
-
-
Engel-Yeger, B.1
Zaaroura, S.2
Zlotogora, J.3
Shalev, S.4
Hujeirat, Y.5
Carrasquillo, M.6
Saleh, B.7
Pratt, H.8
-
174
-
-
28844498743
-
Audiometric evaluation of carriers of the connexin 26 mutation 35delG
-
DOI 10.1007/s00405-005-0918-1
-
Annamaria Franze, Antonella Caravelli, Francesca Di Leva, Elio Marciano, Gennaro Auletta, Federica D'Aulos, Claudio Saulino, Laura Esposito, Massimo Carella, Paolo Gasparini: Audiometric evaluation of carriers of the connexin 26 mutation 35delG. Eur Arch Otorhinolaryngol 262, 921-924 (2005) (Pubitemid 41779885)
-
(2005)
European Archives of Oto-Rhino-Laryngology
, vol.262
, Issue.11
, pp. 921-924
-
-
Franze, A.1
Caravelli, A.2
Di Leva, F.3
Marciano, E.4
Auletta, G.5
D'Aulos, F.6
Saulino, C.7
Esposito, L.8
Carella, M.9
Gasparini, P.10
-
175
-
-
18344375054
-
Performance of cochlear implant recipients with GJB2-related deafness
-
DOI 10.1002/ajmg.10330
-
Glenn E. Green, Daryl A. Scott, Joshua M. McDonald, Holly F.B. Teagle, Bruce J. Tomblin, Linda J. Spencer, George G. Woodworth, John F. Knutson, Bruce J. Gantz, Val C. Sheffield, Richard J.H. Smith: Performance of cochlear implant recipients with GJB2-related deafness. Am J Med Genet 109, 167-170 (2002) (Pubitemid 34438658)
-
(2002)
American Journal of Medical Genetics
, vol.109
, Issue.3
, pp. 167-170
-
-
Green, G.E.1
Scott, D.A.2
McDonald, J.M.3
Teagle, H.F.B.4
Tomblin, B.J.5
Spencer, L.J.6
Woodworth, G.G.7
Knutson, J.F.8
Gantz, B.J.9
Sheffield, V.C.10
Smith, R.J.H.11
-
176
-
-
0347951342
-
The Effect of GJB2 Allele Variants on Performance after Cochlear Implantation
-
DOI 10.1097/00005537-200312000-00015
-
Paul W. Bauer, Ann E. Geers, Christine Brenner, Jean S. Moog, Richard J. H. Smith: The effect of GJB2 allele variants on performance after cochlear implantation. Laryngoscope 113, 2135-2140 (2003) (Pubitemid 38063835)
-
(2003)
Laryngoscope
, vol.113
, Issue.12
, pp. 2135-2140
-
-
Bauer, P.W.1
Geers, A.E.2
Brenner, C.3
Moog, J.S.4
Smith, R.J.H.5
-
177
-
-
3843139559
-
Cochlear implantation for children with GJB2-related deafness
-
DOI 10.1097/00005537-200408000-00019
-
Robert D. Cullen, Craig A. Buchman, Carolyn J. Brown, Ben J. Copeland, Carlton Zdanski, Harold C. Pillsbury, Carol G. Shores: Cochlear implantation for children with GJB2-related deafness. Laryngoscope 114, 1415-1419 (2004) (Pubitemid 39045514)
-
(2004)
Laryngoscope
, vol.114
, Issue.8
, pp. 1415-1419
-
-
Cullen, R.D.1
Buchman, C.A.2
Brown, C.J.3
Copeland, B.J.4
Zdanski, C.5
Pillsbury III, H.C.6
Shores, C.G.7
-
178
-
-
33646690747
-
Connexin-associated deafness and speech perception outcome of cochlear implantation
-
DOI 10.1001/archotol.132.5.495
-
Riki Taitelbaum-Swead, Zippora Brownstein, Chava Muchnik, Liat Kishon-Rabin, Jona Kronenberg, Lela Megirov, Moshe Frydman, Minka Hildesheimer, Karen B. Avraham: Connexin-associated deafness and speech perception outcome of cochlear implantation. Arch Otolaryngol Head Neck Surg 132, 495-500 (2006) (Pubitemid 43742566)
-
(2006)
Archives of Otolaryngology - Head and Neck Surgery
, vol.132
, Issue.5
, pp. 495-500
-
-
Taitelbaum-Swead, R.1
Brownstein, Z.2
Muchnik, C.3
Kishon-Rabin, L.4
Kronenberg, J.5
Megirov, L.6
Frydman, M.7
Hildesheimer, M.8
Avraham, K.B.9
-
179
-
-
0032559798
-
Transplacental uptake of glucose is decreased in embryonic lethal connexin26-deficient mice
-
DOI 10.1083/jcb.140.6.1453
-
Heinz-Dieter Gabriel, Dirk Jung, Christoph Bützler, Achim Temme, Otto Traub, Elke Winterhager, Klaus Willecke: Transplacental uptake of glucose is decreased in embryonic lethal connexin26-deficient mice. J Cell Biol 140, 1453-1461 (1998) (Pubitemid 28152993)
-
(1998)
Journal of Cell Biology
, vol.140
, Issue.6
, pp. 1453-1461
-
-
Gabriel, H.-D.1
Jung, D.2
Butzler, C.3
Temme, A.4
Traub, O.5
Winterhager, E.6
Willecke, K.7
-
180
-
-
67349148585
-
Targeted connexin26 ablation arrests postnatal development of the organ of Corti
-
Yunfeng Wang, Qing Chang, Wenxue Tang, Yu Sun, Binfei Zhou, Huawei Li, Xi Lin: Targeted connexin26 ablation arrests postnatal development of the organ of Corti. Biochem Biophys Res Comm 385, 33-37 (2009)
-
(2009)
Biochem Biophys Res Comm
, vol.385
, pp. 33-37
-
-
Wang, Y.1
Chang, Q.2
Tang, W.3
Sun, Y.4
Zhou, B.5
Li, H.6
Lin, X.7
-
181
-
-
0037315293
-
Functional analysis of connexin-26 mutants associated with hereditary recessive deafness
-
DOI 10.1046/j.1471-4159.2003.01555.x
-
Hung-Li Wang, Wen-Teng Chang, Allen H. Li, Tu-Hsueh Yeh, Ching-Yi Wu, Mei-Shin Chen, Pei-Chen Huang: Functional analysis of connexin-26 mutants associated with hereditary recessive deafness. J Neurochem 84, 735-742 (2003) (Pubitemid 36176932)
-
(2003)
Journal of Neurochemistry
, vol.84
, Issue.4
, pp. 735-742
-
-
Wang, H.-L.1
Chang, W.-T.2
Li, A.H.3
Yeh, T.-H.4
Wu, C.-Y.5
Chen, M.-S.6
Huang, P.-C.7
-
182
-
-
4344715863
-
Altered gating properties of functional Cx26 mutants associated with recessive non-syndromic hearing loss
-
Gülistan Mese, Eric Londin, Rickie Mui, Peter R. Brink, Thomas W. White: Altered gating properties of functional Cx26 mutants associated with recessive nonsyndromic hearing loss. Hum Genet 115, 191-199 (2004) (Pubitemid 39162199)
-
(2004)
Human Genetics
, vol.115
, Issue.3
, pp. 191-199
-
-
Mese, G.1
Londin, E.2
Mui, R.3
Brink, P.R.4
White, T.W.5
-
183
-
-
0348010573
-
A novel connexin 26 mutation associated with autosomal recessive sensorineural deafness
-
DOI 10.1159/000074186
-
Klemens Frei, Trevor Lucas, Reinhard Ramsebner, Christian Schofer, Wolf-Dieter Baumgartner, Klara Weipoltshammer, Nihan Erginel-Unaltuna, Franz J. Wachtler, Karin Kirschhofer: A novel connexin 26 mutation associated with autosomal recessive sensorineural deafness. Audiol Neurootol 9, 47-50 (2004) (Pubitemid 37548245)
-
(2004)
Audiology and Neuro-Otology
, vol.9
, Issue.1
, pp. 47-50
-
-
Frei, K.1
Lucas, T.2
Ramsebner, R.3
Schofer, C.4
Baumgartner, W.-D.5
Weipoltshammer, K.6
Erginel-Unaltuna, N.7
Wachtler, F.J.8
Kirschhofer, K.9
-
184
-
-
62849103884
-
Functional consequences of novel connexin 26 mutations associated with hereditary hearing loss
-
Ram Shankar Mani, Aparna Ganapathy, Rajeev Jalvi, C.R. Srikumari Srisailapathy, Vikas Malhotra, Shelly Chadha, Arun Agarwal, Arabandi Ramesh, Raghunath R. Rangasayee, Anuranjan Anand: Functional consequences of novel connexin 26 mutations associated with hereditary hearing loss. Eur J Hum Genet 17, 502-509 (2009)
-
(2009)
Eur J Hum Genet
, vol.17
, pp. 502-509
-
-
Mani, R.S.1
Ganapathy, A.2
Jalvi, R.3
Srikumari Srisailapathy, C.R.4
Malhotra, V.5
Chadha, S.6
Agarwal, A.7
Ramesh, A.8
Rangasayee, R.R.9
Anand, A.10
-
185
-
-
35248883792
-
Deficient membrane integration of the novel p.N14D GJB2 mutant associated with non-syndromic hearing impairment
-
MIB #935 online
-
Birgit Haack, Kathrin Schmalisch, Monica Palmada, Christoph Bohmer, Nicolai Kohlschmidt, Annerose Keilmann, Ulrich Zechner, Annette Limberger, Stefan Beckert, Hans-Peter Zenner, Florian Lang, Susan Kupka: Deficient membrane integration of the novel p.N14D GJB2 mutant associated with non-syndromic hearing impairment. Hum Mutat 27, 1158-1159 MIB #935 online (2006)
-
(2006)
Hum Mutat
, vol.27
, pp. 1158-1159
-
-
Haack, B.1
Schmalisch, K.2
Palmada, M.3
Bohmer, C.4
Kohlschmidt, N.5
Keilmann, A.6
Zechner, U.7
Limberger, A.8
Beckert, S.9
Zenner, H.-P.10
Lang, F.11
Kupka, S.12
-
186
-
-
14044263546
-
GJB2 mutations in keratitis-ichthyosis-deafness syndrome including its fatal form
-
DOI 10.1002/ajmg.a.30515
-
Andreas R. Janecke, Hans Christian Hennies, Barbara Gunther, Gabriele Gansl, Josef Smolle, Elisabeth M. Messmer, Gerd Utermann, Olaf Rittinger: GJB2 mutations in Keratitis-Ichthyosis-Deafness syndrome including its fatal form. Am J Med Genet 133A, 128-131 (2005) (Pubitemid 40279777)
-
(2005)
American Journal of Medical Genetics
, vol.133 A
, Issue.2
, pp. 128-131
-
-
Janecke, A.R.1
Hennies, H.C.2
Gunther, B.3
Gansl, G.4
Smolle, J.5
Messmer, E.M.6
Utermann, G.7
Rittinger, O.8
-
187
-
-
33746817088
-
Cochleosaccular dysplasia associated with a connexin 26 mutation in keratitis-ichthyosis-deafness syndrome
-
DOI 10.1097/01.mlg.0000224549.75161.ca, PII 0000553720060800000016
-
Andrew J. Griffith, Yandan Yang, Shannon P. Pryor, Hong-Joon Park, Ethylin Wang Jabs, Joseph B. Nadol, Laura J. Russell, Daniel I. Wasserman, Gabriela Richard, Joe C. Adams, Saumil N. Merchant: Cochleosaccular dysplasia associated with a connexin 26 mutation in Keratitis-Ichthyosis-Deafness Syndrome. Laryngoscope 116, 1404-1408 (2006) (Pubitemid 44181455)
-
(2006)
Laryngoscope
, vol.116
, Issue.8
, pp. 1404-1408
-
-
Griffith, A.J.1
Yang, Y.2
Pryor, S.P.3
Park, H.-J.4
Jabs, E.W.5
Nadol, J.B.6
Russell, L.J.7
Wasserman, D.I.8
Richard, G.9
Adams, J.C.10
Merchant, S.N.11
-
188
-
-
33845505914
-
A novel mechanism for connexin 26 mutation linked deafness: Cell death caused by leaky gap junction hemichannels
-
DOI 10.1097/01.mlg.0000241944.77192.d2, PII 0000553720061200000018
-
Benjamin C. Stong, Qing Chang, Shoeb Ahmad, Xi Lin: A xnovel mechanism for connexin 26 mutation linked deafness: cell death caused by leaky gap junction hemichannels. Laryngoscope 116, 2205-2210 (2006) (Pubitemid 44912318)
-
(2006)
Laryngoscope
, vol.116
, Issue.12
, pp. 2205-2210
-
-
Stong, B.C.1
Chang, Q.2
Ahmad, S.3
Lin, X.4
-
189
-
-
34250807258
-
Aberrant hemichannel properties of Cx26 mutations causing skin disease and deafness
-
DOI 10.1152/ajpcell.00626.2006
-
Dwan A. Gerido, Adam M. DeRosa, Gabriela Richard, Thomas W. White: Aberrant hemichannel properties of Cx26 mutations causing skin disease and deafness. Am J Physiol Cell Physiol 293, C337-C345 (2007) (Pubitemid 47105012)
-
(2007)
American Journal of Physiology - Cell Physiology
, vol.293
, Issue.1
-
-
Gerido, D.A.1
DeRosa, A.M.2
Richard, G.3
White, T.W.4
-
191
-
-
78649566009
-
Prevalence of the GJB2 IVS1+1G>A mutation in Chinese hearing loss patients with monoallelic pathogenic mutation in the coding region of GJB2
-
Yongyi Yuan, Fei Yu, Guojian Wang, Shasha Huang, Ruili Yu, Xin Zhang, Deliang Huang, Dongyi Han, Pu Dai: Prevalence of the GJB2 IVS1+1G>A mutation in Chinese hearing loss patients with monoallelic pathogenic mutation in the coding region of GJB2. J Transl Med 8, 127 (2010)
-
(2010)
J Transl Med
, vol.8
, pp. 127
-
-
Yuan, Y.1
Yu, F.2
Wang, G.3
Huang, S.4
Yu, R.5
Zhang, X.6
Huang, D.7
Han, D.8
Dai, P.9
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