-
1
-
-
34447287496
-
-
CALVO, J., RABIONET, R., GASPARINI, P., and ESTIVILL, X. (2002). Connexin and deafness homepage http://www.crg.es/deafness.
-
(2002)
Connexin and Deafness
-
-
Calvo, J.1
Rabionet, R.2
Gasparini, P.3
Estivill, X.4
-
2
-
-
0030696315
-
Two different connexin 26 mutations in an inbred kindred segregating nonsyndromic recessive deafness: Implications for genetic studies in isolated populations
-
CARRASQUILLO, M.M., ZLOTOGORA, J., BARGES, S., and HACKRAVARTI, A. (1997). Two different connexin 26 mutations in an inbred kindred segregating nonsyndromic recessive deafness: implications for genetic studies in isolated populations. Hum. Mol. Genet. 6:2163-2172.
-
(1997)
Hum. Mol. Genet.
, vol.6
, pp. 2163-2172
-
-
Carrasquillo, M.M.1
Zlotogora, J.2
Barges, S.3
Hackravarti, A.4
-
3
-
-
0037165262
-
A deletion involving the Connexin 30 gene in nonsyndromic hearing impairment
-
DEL CASTILLO, I., VILLAMAR, M., MORENO-PELAYO, M.A., DEL CASTILLO, F.J., ALVAREZ, A., TELLERIA, D., MENENDEZ, I., and MORENO, F. (2002). A deletion involving the Connexin 30 gene in nonsyndromic hearing impairment. N. Engl. J. Med. 346, 243-249.
-
(2002)
N. Engl. J. Med.
, vol.346
, pp. 243-249
-
-
Del Castillo, L.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
-
4
-
-
0033577528
-
Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin 26 gene defect: Implications for genetic counselling
-
DENOYELLE, F., MARLIN, S., WEIL, D., MOATTI, L., CHAUVIN, P., GARABEDIAN, E.N., and PETIT, C. (1999). 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)
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
-
5
-
-
0032492217
-
Connexin 26 mutations in sporadic and inherited sensorineural deafness
-
ESTIVILL, X., FORTINA, P., SURREY, S., RABIONET, R., MELCHIONDA, S., D'AGRUMA, L., MANSFIELD, E., RAPPAPORT, E., GOVEA, N., MILA, M., ZELANTE, L., and GASPARINI, P. (1998). Connexin 26 mutations in sporadic and inherited sensorineural deafness. Lancet 351, 394-398.
-
(1998)
Lancet
, vol.351
, pp. 394-398
-
-
Estivill, X.1
Fortina, P.2
Surrey, S.3
Rabionet, R.4
Melchionda, S.5
D'Agruma, L.6
Mansfield, E.7
Rappaport, E.8
Govea, N.9
Mila, M.10
Zelante, L.11
Gasparini, P.12
-
6
-
-
0028249690
-
A non-syndrome form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13q
-
GUILFORD, P., BEN ARAB, S., BLANCHARD, S., LEVILLIERS, J., WEISSENBACH, J., BELKAHIA, A., and PETIT, C. (1994). A non-syndrome form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13q. Nature Genet. 6, 24-28.
-
(1994)
Nature Genet.
, vol.6
, pp. 24-28
-
-
Guilford, P.1
Ben Arab, S.2
Blanchard, S.3
Levilliers, J.4
Weissenbach, J.5
Belkahia, A.6
Petit, C.7
-
7
-
-
0031007349
-
Connexin 26 mutations in hereditary nonsyndromic sensorineural deafness
-
KELSELL, D.P., DUNLOP, J., STEVENS, H.P., LENCH, N.J., LIANG, J.N., PARRY, G., MUELLER, R.F., and LEIGH, I.M. (1997). Connexin 26 mutations in hereditary nonsyndromic sensorineural deafness. Nature 387, 80-83.
-
(1997)
Nature
, vol.387
, pp. 80-83
-
-
Kelsell, D.P.1
Dunlop, J.2
Stevens, H.P.3
Lench, N.J.4
Liang, J.N.5
Parry, G.6
Mueller, R.F.7
Leigh, I.M.8
-
8
-
-
0034856656
-
Connexin 26 studies in patients with sensorineural hearing loss
-
KENNA, M.A., WU, B.L., COTANCHE, D.A., KORF, B.R., and REHM, H.L. (2001). Connexin 26 studies in patients with sensorineural hearing loss. Arch. Otolaryngol. Head Neck Surg. 127, 1037-1042.
-
(2001)
Arch. Otolaryngol. Head Neck Surg
, vol.127
, pp. 1037-1042
-
-
Kenna, M.A.1
Wu, B.L.2
Cotanche, D.A.3
Korf, B.R.4
Rehm, H.L.5
-
9
-
-
0035513485
-
A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in nonsyndromic deafness: A novel founder mutation in Ashkenazi Jews
-
LERER, I., SAGI, M., BEN-NERIAH, Z., WANG, T., LEVI, H., and ABELIOVICH, D. (2001). 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)
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
-
10
-
-
0036821083
-
The prevalence of connexin 26 (GJB2) mutations in the Chinese population
-
LIU, X.Z., XIA, X.J., KE, X.M., OUYANG, X.M., DU, L.L., LIU, Y.H., ANGELI, S., TELISCHI, F.F., NANCE, W.E., BALKANY, T., and XU, L.R. (2002). The prevalence of connexin 26 (GJB2) mutations in the Chinese population. Hum. Genet. 111, 394-397.
-
(2002)
Hum. Genet.
, vol.111
, 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
-
11
-
-
0034884213
-
Connexin 26 gene mutations in congenitally deaf children: Pitfalls for genetic counselling
-
MARLIN, S., GARABEDIAN, E.N., ROGER, G., MOATTI, L., MATHA, N., LEWIN, P., PETIT, C., and DENOYELLE, F. (2001). Connexin 26 gene mutations in congenitally deaf children: pitfalls for genetic counselling. Arch Otolaryngol Head Neck Surg. 127, 941-942.
-
(2001)
Arch Otolaryngol Head Neck Surg
, vol.127
, pp. 941-942
-
-
Marlin, S.1
Garabedian, E.N.2
Roger, G.3
Moatti, L.4
Matha, N.5
Lewin, P.6
Petit, C.7
Denoyelle, F.8
-
12
-
-
0034510897
-
Connexin-26 gene analysis in hearing-impaired newborns
-
MILUNSKY, J.M., MAHER, T.A., YOSUNKAYA, E., and VOHR, B.R. (2000). Connexin-26 gene analysis in hearing-impaired newborns. Genet. Test. 4, 345-349.
-
(2000)
Genet. Test.
, vol.4
, pp. 345-349
-
-
Milunsky, J.M.1
Maher, T.A.2
Yosunkaya, E.3
Vohr, B.R.4
-
13
-
-
85047699401
-
A large deletion including most of GJB6 in recessive non syndromic deafness: A digenic effect?
-
PALLARES-RUIZ, N., BLANCHET, P., MONDAIN, M., CLAUSTRES, M., and ROUX, A. (2002). A large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect? Eur. J. Hum. Genet. 10, 72-76.
-
(2002)
Eur. J. Hum. Genet.
, vol.10
, pp. 72-76
-
-
Pallares-Ruiz, N.1
Blanchet, P.2
Mondain, M.3
Claustres, M.4
Roux, A.5
-
14
-
-
0036247733
-
Connexin mutations in hearing loss, dematological and neurological disorders
-
RABIONET, R., LOPEZ-BIGAS, N., ARBONES, M.L., and ESTIVILL, X. (2002). Connexin mutations in hearing loss, dematological and neurological disorders. Trends Mol. Med. 8, 205-212.
-
(2002)
Trends Mol. Med.
, vol.8
, pp. 205-212
-
-
Rabionet, R.1
Lopez-Bigas, N.2
Arbones, M.L.3
Estivill, X.4
-
15
-
-
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., and SHEFFIELD, V.C. (1998). Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss. Hum. Mutat. 11, 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
-
16
-
-
12244300886
-
Connexin 30 (Gjb6)-deficiency causes severe hearing impairment and lack of endocochlear potential
-
TEUBNER, B., MICHEL, V., PESCH, J., LAUTERMANN, J., COHEN-SALMON, M., SOHL, G., JAHNKE, K., WINTERHAGER, E., HERBERHOLD, C., HARDELIN, J.P., PETIT, C., and WILLECKE, K. (2003). Connexin 30 (Gjb6)-deficiency causes severe hearing impairment and lack of endocochlear potential. Hum. Mol. Genet. 12, 13-21.
-
(2003)
Hum. Mol. Genet.
, vol.12
, 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
-
17
-
-
9844245885
-
Connexin26 mutations associated with the most common form of nonsyndromic 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., and FORTINA, P. (1997). Connexin26 mutations associated with the most common form of nonsyndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans. Hum. Mol. Genet. 6, 1605-1609.
-
(1997)
Hum. Mol. Genet.
, vol.6
, pp. 1605-1609
-
-
Zelante, L.1
Gasparini, P.2
Estivill, X.3
Melchionda, S.4
D'Agruma, L.5
Govea, N.6
Mila, M.7
Monica, M.D.8
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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