-
1
-
-
0031612929
-
Recommendations for a nomenclature system for human gene mutations
-
Nomenclature Working Group
-
S.E., Recommendations for a nomenclature system for human gene mutations. Nomenclature Working Group, Hum. Mutat. 11 (1998) 1-3.
-
(1998)
Hum. Mutat.
, vol.11
, pp. 1-3
-
-
E., S.1
-
2
-
-
0032961829
-
Central visual, acoustic, and motor pathway involvement in a Charcot-Marie-Tooth family with an Asn205Ser mutation in the connexin 32 gene [in process citation]
-
Bahr M., Andres F., Timmerman V., Nelis M.E., Van Broeckhoven C., Dichgans J. Central visual, acoustic, and motor pathway involvement in a Charcot-Marie-Tooth family with an Asn205Ser mutation in the connexin 32 gene [in process citation]. J. Neurol. Neurosurg. Psychiatry. 66:1999;202-206.
-
(1999)
J. Neurol. Neurosurg. Psychiatry
, vol.66
, pp. 202-206
-
-
Bahr, M.1
Andres, F.2
Timmerman, V.3
Nelis, M.E.4
Van Broeckhoven, C.5
Dichgans, J.6
-
3
-
-
0032546033
-
Connexin 26 R143W mutation associated with recessive non-syndromic sensorineural deafness in Africa [letter]
-
Brobby G.W., Muller-Myhsok B., Horstmann R.D. Connexin 26 R143W mutation associated with recessive non-syndromic sensorineural deafness in Africa [letter]. N. Engl. J. Med. 338:1998;548-550.
-
(1998)
N. Engl. J. Med.
, vol.338
, pp. 548-550
-
-
Brobby, G.W.1
Muller-Myhsok, B.2
Horstmann, R.D.3
-
4
-
-
0029974655
-
Connections with connexins: The molecular basis of direct intercellular signaling
-
Bruzzone R., White T.W., Paul D.L. Connections with connexins: the molecular basis of direct intercellular signaling. Eur. J. Biochem. 238:1996;1-27.
-
(1996)
Eur. J. Biochem.
, vol.238
, pp. 1-27
-
-
Bruzzone, R.1
White, T.W.2
Paul, D.L.3
-
5
-
-
0030696315
-
Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: Implications for genetic studies in isolated populations
-
Carrasquillo M.M., Zlotogora J., Barges S., Chakravarti A. Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: implications for genetic studies in isolated populations. Hum. Mol. Genet. 6:1997;2163-2172.
-
(1997)
Hum. Mol. Genet.
, vol.6
, pp. 2163-2172
-
-
Carrasquillo, M.M.1
Zlotogora, J.2
Barges, S.3
Chakravarti, A.4
-
6
-
-
0033037643
-
Clinical studies of families with hearing loss attributable to mutations in the connexin 26 gene (GJB2/DFNB1)
-
Cohn E.S., Kelley P.M., Fowler T.W., Gorga M.P., Lefkowitz D.M., Kuehn H.J., Schaefer G.B., Gobar L.S., Hahn F.J., Harris D.J., Kimberling W.J. Clinical studies of families with hearing loss attributable to mutations in the connexin 26 gene (GJB2/DFNB1). Pediatrics. 103:1999;546-550.
-
(1999)
Pediatrics
, vol.103
, 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
-
7
-
-
0032575085
-
Connexin 26 gene linked to a dominant deafness [letter]
-
Denoyelle F., Lina-Granade G., Plauchu H., Bruzzone R., Chaib H., Levi-Acobas F., Weil D., Petit C. Connexin 26 gene linked to a dominant deafness [letter]. Nature. 393:1998;319-320.
-
(1998)
Nature
, vol.393
, pp. 319-320
-
-
Denoyelle, F.1
Lina-Granade, G.2
Plauchu, H.3
Bruzzone, R.4
Chaib, H.5
Levi-Acobas, F.6
Weil, D.7
Petit, C.8
-
8
-
-
0033577528
-
Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin 26 gene defect: Implications for genetic counselling [in process citation]
-
Denoyelle F., Marlin S., Weil D., Moatti L., Chauvin P., Garabedian E.N., Petit C. Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin 26 gene defect: implications for genetic counselling [in process citation]. Lancet. 353:1999;1298-1303.
-
(1999)
Lancet
, vol.353
, pp. 1298-1303
-
-
Denoyelle, F.1
Marlin, S.2
Weil, D.3
Moatti, L.4
Chauvin, P.5
Garabedian, E.N.6
Petit, C.7
-
9
-
-
9844252338
-
Prelingual deafness: High prevalence of a 30delG mutation in the connexin 26 gene
-
Denoyelle F., Weil D., Maw M.A., Wilcox S.A., Lench N.J., Allen-Powell D.R., Osborn A.H., Dahl H.H., Middleton A., Houseman M.J., Dode C., Marlin S., Boulila-ElGaied A., Grati M., Ayadi H., BenArab S., Bitoun P., Lina-Granade G., Godet J., Mustapha M., Loiselet J., El-Zir E., Aubois A., Joannard A., Petit C. Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene. Hum. Mol. Genet. 6:1997;2173-2177.
-
(1997)
Hum. Mol. Genet.
, vol.6
, pp. 2173-2177
-
-
Denoyelle, F.1
Weil, D.2
Maw, M.A.3
Wilcox, S.A.4
Lench, N.J.5
Allen-Powell, D.R.6
Osborn, A.H.7
Dahl, H.H.8
Middleton, A.9
Houseman, M.J.10
Dode, C.11
Marlin, S.12
Boulila-Elgaied, A.13
Grati, M.14
Ayadi, H.15
Benarab, S.16
Bitoun, P.17
Lina-Granade, G.18
Godet, J.19
Mustapha, M.20
Loiselet, J.21
El-Zir, E.22
Aubois, A.23
Joannard, A.24
Petit, C.25
more..
-
10
-
-
0032492217
-
Connexin 26 mutations in sporadic and inherited sensorineural deafness
-
Estivill X., Fortina P., Surrey S., Rabionet R., Melchionda S., D'Agruma L., Mansfield E., Rappaport E., Govea N., Mila M., Zelante L., Gasparini P. Connexin 26 mutations in sporadic and inherited sensorineural deafness. Lancet. 351:1998;394-398.
-
(1998)
Lancet
, vol.351
, pp. 394-398
-
-
Estivill, X.1
Fortina, P.2
Surrey, S.3
Rabionet, R.4
Melchionda, S.5
D'Agruma, L.6
Mansfield, E.7
Rappaport, E.8
Govea, N.9
Mila, M.10
Zelante, L.11
Gasparini, P.12
-
11
-
-
0032559798
-
Transplacental uptake of glucose is decreased in embryonic- lethal connexin 26-deficient mice
-
Gabriel H.D., Jung D., Butzler C., Temme A., Traub O., Winterhager E., Willecke K. Transplacental uptake of glucose is decreased in embryonic- lethal connexin 26-deficient mice. J. Cell Biol. 140:1998;1453-1461.
-
(1998)
J. Cell Biol.
, vol.140
, 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
-
12
-
-
0033575109
-
Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness
-
Green G.E., Scott D.A., McDonald J.M., Woodworth G.G., Sheffield V.C., Smith R.J. Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness. JAMA. 281:1999;2211-2216.
-
(1999)
JAMA
, vol.281
, pp. 2211-2216
-
-
Green, G.E.1
Scott, D.A.2
McDonald, J.M.3
Woodworth, G.G.4
Sheffield, V.C.5
Smith, R.J.6
-
13
-
-
0031949442
-
Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss
-
Kelley P.M., Harris D.J., Comer B.C., Askew J.W., Fowler T., Smith S.D., Kimberling W.J. Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss. Am. J. Hum. Genet. 62:1998;792-799.
-
(1998)
Am. J. Hum. Genet.
, vol.62
, 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
-
14
-
-
0031007349
-
Connexin 26 mutations in hereditary non-syndromic sensorineural deafness
-
Kelsell D.P., Dunlop J., Stevens H.P., Lench N.J., Liang J.N., Parry G., Mueller R.F., Leigh I.M. Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. Nature. 387:1997;80-83.
-
(1997)
Nature
, vol.387
, pp. 80-83
-
-
Kelsell, D.P.1
Dunlop, J.2
Stevens, H.P.3
Lench, N.J.4
Liang, J.N.5
Parry, G.6
Mueller, R.F.7
Leigh, I.M.8
-
15
-
-
0028843286
-
Gap junctions in the rat cochlea: Immunohistochemical and ultrastructural analysis
-
Kikuchi T., Kimura R.S., Paul D.L., Adams J.C. Gap junctions in the rat cochlea: immunohistochemical and ultrastructural analysis. Anat. Embryol. (Berlin). 191:1995;101-118.
-
(1995)
Anat. Embryol. (Berlin)
, vol.191
, pp. 101-118
-
-
Kikuchi, T.1
Kimura, R.S.2
Paul, D.L.3
Adams, J.C.4
-
16
-
-
0025762012
-
Gene deletions causing human genetic disease: Mechanisms of mutagenesis and the role of the local DNA sequence environment
-
Krawczak M., Cooper D.N. Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment. Hum. Genet. 86:1991;425-441.
-
(1991)
Hum. Genet.
, vol.86
, pp. 425-441
-
-
Krawczak, M.1
Cooper, D.N.2
-
17
-
-
0031795109
-
Expression of the gap junction connexins 26 and 30 in the rat cochlea
-
Lautermann J., ten Cate W.F., Altenhoff P. Jr., Traub O., Frank H., Jahnke K., Winterhager E. Expression of the gap junction connexins 26 and 30 in the rat cochlea. Cell Tissue Res. 294:1998;415-420.
-
(1998)
Cell Tissue Res.
, vol.294
, pp. 415-420
-
-
Lautermann, J.1
Ten Cate, W.F.2
Altenhoff P., Jr.3
Traub, O.4
Frank, H.5
Jahnke, K.6
Winterhager, E.7
-
18
-
-
0342816236
-
-
The Association for Research in Otolaryngology Abstract
-
J. Lautermann, W.F. ten Cate, P. Altenhoff, K. Jahnke, E. Winterhager, Developmental expression of connexins 26 and 30 in the cochlea, The Association for Research in Otolaryngology (1999), Abstract.
-
(1999)
Developmental Expression of Connexins 26 and 30 in the Cochlea
-
-
Lautermann, J.1
Ten Cate, W.F.2
Altenhoff, P.3
Jahnke, K.4
Winterhager, E.5
-
19
-
-
0026646956
-
Transcriptional downregulation of gap junction proteins blocks junctional communication in human mammary tumor cell lines
-
Lee S.W., Tomasetto C., Paul D., Keyomarsi K., Sager R. Transcriptional downregulation of gap junction proteins blocks junctional communication in human mammary tumor cell lines. J. Cell Biol. 118:1992;1213-1221.
-
(1992)
J. Cell Biol.
, vol.118
, pp. 1213-1221
-
-
Lee, S.W.1
Tomasetto, C.2
Paul, D.3
Keyomarsi, K.4
Sager, R.5
-
20
-
-
0031982160
-
A Moroccan family with autosomal recessive sensorineural hearing loss caused by a mutation in the gap junction protein gene connexin 26 (GJB2)
-
Lench N.J., Markham A.F., Mueller R.F., Kelsell D.P., Smith R.J., Willems P.J., Schatteman I., Capon H., Van De Heyning P.J., van Camp G. A Moroccan family with autosomal recessive sensorineural hearing loss caused by a mutation in the gap junction protein gene connexin 26 (GJB2). J. Med. Genet. 35:1998;151-152.
-
(1998)
J. Med. Genet.
, vol.35
, pp. 151-152
-
-
Lench, N.J.1
Markham, A.F.2
Mueller, R.F.3
Kelsell, D.P.4
Smith, R.J.5
Willems, P.J.6
Schatteman, I.7
Capon, H.8
Van De Heyning, P.J.9
Van Camp, G.10
-
21
-
-
3643059295
-
Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with non-syndromic recessive deafness
-
Morell R.J., Kim H.J., Hood L.J., Goforth L., Friderici K., Fisher R., van Camp G., Berlin C.I., Oddoux C., Ostrer H., Keats B., Friedman T.B. Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with non-syndromic recessive deafness. N. Engl. J. Med. 339:1998;1500-1505.
-
(1998)
N. Engl. J. Med.
, vol.339
, pp. 1500-1505
-
-
Morell, R.J.1
Kim, H.J.2
Hood, L.J.3
Goforth, L.4
Friderici, K.5
Fisher, R.6
Van Camp, G.7
Berlin, C.I.8
Oddoux, C.9
Ostrer, H.10
Keats, B.11
Friedman, T.B.12
-
22
-
-
0342442129
-
Non-syndromal sensorineural hearing impairment/deafness: Genotype-phenotype studies in autosomal recessive families, sibs and sporadically affected individuals analysed for connexin 26 mutations
-
Abstr.
-
Mueller R.F., Nehammer A., Middleton A., Houseman M.J., Lench N.J. Non-syndromal sensorineural hearing impairment/deafness: genotype-phenotype studies in autosomal recessive families, sibs and sporadically affected individuals analysed for connexin 26 mutations. Am. J. Hum. Genet. 63:1998;A375. Abstr.
-
(1998)
Am. J. Hum. Genet.
, vol.63
, pp. 375
-
-
Mueller, R.F.1
Nehammer, A.2
Middleton, A.3
Houseman, M.J.4
Lench, N.J.5
-
23
-
-
0343747420
-
Genotype-phenotype correlations in Cx26 deafness
-
Abstr.
-
Murgia A., Polli R., Leonardi E., Martella M., Vinanzi C., Orzan E. Genotype-phenotype correlations in Cx26 deafness. Am. J. Hum. Genet. 63:1998;A376. Abstr.
-
(1998)
Am. J. Hum. Genet.
, vol.63
, pp. 376
-
-
Murgia, A.1
Polli, R.2
Leonardi, E.3
Martella, M.4
Vinanzi, C.5
Orzan, E.6
-
24
-
-
0343311754
-
Mutations in the connexin 26 gene (GJB2) in Italian and Spanish patients with congenital deafness
-
Abstr.
-
Rabionet R., Melchionda S., D'Agruma L., Zelante L., Gasparini P., Estivill S. Mutations in the connexin 26 gene (GJB2) in Italian and Spanish patients with congenital deafness. Am. J. Hum. Genet. 63:1998;A381. Abstr.
-
(1998)
Am. J. Hum. Genet.
, vol.63
, pp. 381
-
-
Rabionet, R.1
Melchionda, S.2
D'Agruma, L.3
Zelante, L.4
Gasparini, P.5
Estivill, S.6
-
25
-
-
0031796918
-
Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis [in process citation]
-
Richard G., Smith L.E., Bailey R.A., Itin P., Hohl D., Epstein E.H.J., DiGiovanna J.J., Compton J.G., Bale S.J. Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis [in process citation]. Nat. Genet. 20:1998;366-369.
-
(1998)
Nat. Genet.
, vol.20
, pp. 366-369
-
-
Richard, G.1
Smith, L.E.2
Bailey, R.A.3
Itin, P.4
Hohl, D.5
Epstein, E.H.J.6
Digiovanna, J.J.7
Compton, J.G.8
Bale, S.J.9
-
26
-
-
0031722150
-
Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf mutism and palmoplantar keratoderma
-
Richard G., White T.W., Smith L.E., Bailey R.A., Compton J.G., Paul D.L., Bale S.J. Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf mutism and palmoplantar keratoderma. Hum. Genet. 103:1998;393-399.
-
(1998)
Hum. Genet.
, vol.103
, pp. 393-399
-
-
Richard, G.1
White, T.W.2
Smith, L.E.3
Bailey, R.A.4
Compton, J.G.5
Paul, D.L.6
Bale, S.J.7
-
27
-
-
7144228618
-
Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss
-
Scott D.A., Kraft M.L., Carmi R., Ramesh A., Elbedour K., Yairi Y., Srisailapathy C.R., Rosengren S.S., Markham A.F., Mueller R.F., Lench N.J., van Camp G., Smith R.J., Sheffield V.C. Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss. Hum. Mutat. 11:1998;387-394.
-
(1998)
Hum. Mutat.
, vol.11
, pp. 387-394
-
-
Scott, D.A.1
Kraft, M.L.2
Carmi, R.3
Ramesh, A.4
Elbedour, K.5
Yairi, Y.6
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.13
Sheffield, V.C.14
-
28
-
-
0031933645
-
Connexin mutations and hearing loss [letter]
-
Scott D.A., Kraft M.L., Stone E.M., Sheffield V.C., Smith R.J. Connexin mutations and hearing loss [letter]. Nature. 391:1998;32.
-
(1998)
Nature
, vol.391
, pp. 32
-
-
Scott, D.A.1
Kraft, M.L.2
Stone, E.M.3
Sheffield, V.C.4
Smith, R.J.5
-
29
-
-
0342381264
-
Screening for connexin 26 mutations in U.S. individuals with non-syndromic hearing loss
-
Abstr.
-
Scott D.A., McDonald J.M., Kraft M.L., Carmi R., Elbedour K., Stone E.M., Sheffield V.C., Smith R.J. Screening for connexin 26 mutations in U.S. individuals with non-syndromic hearing loss. Am. J. Hum. Genet. 63:1998;A384. Abstr.
-
(1998)
Am. J. Hum. Genet.
, vol.63
, pp. 384
-
-
Scott, D.A.1
McDonald, J.M.2
Kraft, M.L.3
Carmi, R.4
Elbedour, K.5
Stone, E.M.6
Sheffield, V.C.7
Smith, R.J.8
-
30
-
-
0343686430
-
Prevalent mutations in connexin 26 gene in sporadic and recessive non-syndromic deafness in Japanese population
-
Abstract
-
S. Usami, S. Abe, H. Shinkawa, M.D. Weston, P.M. Kelley, W.J. Kimberling, Prevalent mutations in connexin 26 gene in sporadic and recessive non-syndromic deafness in Japanese population, Abstracts for the Association for Research in Otolaryngology (1999), Abstract.
-
(1999)
Abstracts for the Association for Research in Otolaryngology
-
-
Usami, S.1
Abe, S.2
Shinkawa, H.3
Weston, M.D.4
Kelley, P.M.5
Kimberling, W.J.6
-
32
-
-
0033002783
-
Genetic diseases and gene knockouts reveal diverse connexin functions
-
White T.W., Paul D.L. Genetic diseases and gene knockouts reveal diverse connexin functions. Annu. Rev. Physiol. 61:1999;283-310.
-
(1999)
Annu. Rev. Physiol.
, vol.61
, pp. 283-310
-
-
White, T.W.1
Paul, D.L.2
-
33
-
-
17344373747
-
Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment
-
Xia J.H., Liu C.Y., Tang B.S., Pan Q., Huang L., Dai H.P., Zhang B.R., Xie W., Hu D.X., Zheng D., Shi X.L., Wang D.A., Xia K., Yu K.P., Liao X.D., Feng Y., Yang Y.F., Xiao J.Y., Xie D.H., Huang J.Z. Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment. Nat. Genet. 20:1998;370-373.
-
(1998)
Nat. Genet.
, vol.20
, pp. 370-373
-
-
Xia, J.H.1
Liu, C.Y.2
Tang, B.S.3
Pan, Q.4
Huang, L.5
Dai, H.P.6
Zhang, B.R.7
Xie, W.8
Hu, D.X.9
Zheng, D.10
Shi, X.L.11
Wang, D.A.12
Xia, K.13
Yu, K.P.14
Liao, X.D.15
Feng, Y.16
Yang, Y.F.17
Xiao, J.Y.18
Xie, D.H.19
Huang, J.Z.20
more..
-
34
-
-
9844245885
-
Connexin 26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans
-
Zelante L., Gasparini P., Estivill X., Melchionda S., D'Agruma L., Govea N., Mila M., Monica M.D., Lutfi J., Shohat M., Mansfield E., Delgrosso K., Rappaport E., Surrey S., Fortina P. Connexin 26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans. Hum. Mol. Genet. 6:1997;1605-1609.
-
(1997)
Hum. Mol. Genet.
, vol.6
, pp. 1605-1609
-
-
Zelante, L.1
Gasparini, P.2
Estivill, X.3
Melchionda, S.4
D'Agruma, L.5
Govea, N.6
Mila, M.7
Monica, M.D.8
Lutfi, J.9
Shohat, M.10
Mansfield, E.11
Delgrosso, K.12
Rappaport, E.13
Surrey, S.14
Fortina, P.15
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