-
1
-
-
0033590712
-
Fluctuating sensorineural hearing loss associated with enlarged vestibular aqueduct maps to 7q31, the region containing the Pendred gene
-
Abe S, Usami S, Hoover DM, Cohn E, Shinkawa H, Kimberling WJ (1999) Fluctuating sensorineural hearing loss associated with enlarged vestibular aqueduct maps to 7q31, the region containing the Pendred gene. Am J Med Genet 82:322-328
-
(1999)
Am J Med Genet
, vol.82
, pp. 322-328
-
-
Abe, S.1
Usami, S.2
Hoover, D.M.3
Cohn, E.4
Shinkawa, H.5
Kimberling, W.J.6
-
2
-
-
33744496526
-
SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations
-
Albert S, Blons H, Jonard L, Feldmann D, Chauvin P, Loundon N, Sergent-Allaoui A, Houang M, Joannard A, Schmerber S, Delobel B, Leman J, Journel H, Catros H, Dollfus H, Eliot MM, David A, Calais C, Drouin-Garraud V, Obstoy MF, Tran Ba Huy P, Lacombe D, Duriez F, Francannet C, Bitoun P, Petit C, Garabedian EN, Couderc R, Marlin S, Denoyelle F (2006) SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations. Eur J Hum Genet 14:773-779
-
(2006)
Eur J Hum Genet
, vol.14
, pp. 773-779
-
-
Albert, S.1
Blons, H.2
Jonard, L.3
Feldmann, D.4
Chauvin, P.5
Loundon, N.6
Sergent-Allaoui, A.7
Houang, M.8
Joannard, A.9
Schmerber, S.10
Delobel, B.11
Leman, J.12
Journel, H.13
Catros, H.14
Dollfus, H.15
Eliot, M.M.16
David, A.17
Calais, C.18
Drouin-Garraud, V.19
Obstoy, M.F.20
Tran Ba Huy, P.21
Lacombe, D.22
Duriez, F.23
Francannet, C.24
Bitoun, P.25
Petit, C.26
Garabedian, E.N.27
Couderc, R.28
Marlin, S.29
Denoyelle, F.30
more..
-
3
-
-
34249881626
-
Temporal bone imaging in GJB2 Deafness
-
Azaiez H, Smith R (2007) Temporal bone imaging in GJB2 Deafness. Laryngoscope 117(6):1127
-
(2007)
Laryngoscope
, vol.117
, Issue.6
, pp. 1127
-
-
Azaiez, H.1
Smith, R.2
-
5
-
-
0035034863
-
Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations
-
Campbell C, Cucci RA, Prasad S, Green GE, Edeal JB, Galer CE, Karniski LP, Sheffield VC, Smith RJ (2001) Pendred syndrome, DFNB4, and PDS/ SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations. Hum Mutat 17:403-411
-
(2001)
Hum Mutat
, vol.17
, pp. 403-411
-
-
Campbell, C.1
Cucci, R.A.2
Prasad, S.3
Green, G.E.4
Edeal, J.B.5
Galer, C.E.6
Karniski, L.P.7
Sheffield, V.C.8
Smith, R.J.9
-
6
-
-
7144261720
-
Molecular analysis of the PDS gene in Pendred syndrome
-
Coyle B, Reardon W, Herbrick JA, Tsui LC, Gausden E, Lee J, Coffey R, Grueters A, Grossman A, Phelps PD, Luxon L, Kendall-Taylor P, Scherer SW, Trembath RC (1998) Molecular analysis of the PDS gene in Pendred syndrome. Hum Mol Genet 7:1105-1112
-
(1998)
Hum Mol Genet
, vol.7
, pp. 1105-1112
-
-
Coyle, B.1
Reardon, W.2
Herbrick, J.A.3
Tsui, L.C.4
Gausden, E.5
Lee, J.6
Coffey, R.7
Grueters, A.8
Grossman, A.9
Phelps, P.D.10
Luxon, L.11
Kendall-Taylor, P.12
Scherer, S.W.13
Trembath, R.C.14
-
7
-
-
0032476116
-
Progressive hearing loss, hypoplasia of the cochlea and widened vestibular aqueducts are very common features in Pendred's syndrome
-
Cremers CW, Admiraal RJ, Huygen PL, Bolder C, Everett LA, Joosten FB, Green ED, van Camp G, Otten BJ (1998) Progressive hearing loss, hypoplasia of the cochlea and widened vestibular aqueducts are very common features in Pendred's syndrome. Int J Pediatr Otorhinolaryngol 45:113-123
-
(1998)
Int J Pediatr Otorhinolaryngol
, vol.45
, pp. 113-123
-
-
Cremers, C.W.1
Admiraal, R.J.2
Huygen, P.L.3
Bolder, C.4
Everett, L.A.5
Joosten, F.B.6
Green, E.D.7
van Camp, G.8
Otten, B.J.9
-
8
-
-
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
-
del Castillo FJ, Rodriguez-Ballesteros M, Alvarez A, Hutchin T, Leonardi E, de Oliveira CA, Azaiez H, Brownstein Z, Avenarius MR, Marlin S, Pandya A, Shahin H, Siemering KR, Weil D, Wuyts W, Aguirre LA, Martin Y, Moreno-Pelayo MA, Villamar M, Avraham KB, Dahl HH, Kanaan M, Nance WE, Petit C, Smith RJ, Van Camp G, Sartorato EL, Murgia A, Moreno F, del Castillo I (2005) A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment. J Med Genet 42:588-594
-
(2005)
J Med Genet
, vol.42
, 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
Siemering, K.R.13
Weil, D.14
Wuyts, W.15
Aguirre, L.A.16
Martin, Y.17
Moreno-Pelayo, M.A.18
Villamar, M.19
Avraham, K.B.20
Dahl, H.H.21
Kanaan, M.22
Nance, W.E.23
Petit, C.24
Smith, R.J.25
Van Camp, G.26
Sartorato, E.L.27
Murgia, A.28
Moreno, F.29
del Castillo, I.30
more..
-
9
-
-
0037165262
-
A deletion involving the connexin 30 gene in nonsyndromic hearing impairment
-
del Castillo I, Villamar M, Moreno-Pelayo MA, del Castillo FJ, Alvarez A, Telleria D, Menendez I, 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, 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
-
10
-
-
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 EN, 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
-
11
-
-
16944366606
-
Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)
-
Everett LA, Glaser B, Beck JC, Idol JR, Buchs A, Heyman M, Adawi F, Hazani E, Nassir E, Baxevanis AD, Sheffield VC, Green ED (1997) Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). Nat Genet 17:411-422
-
(1997)
Nat Genet
, vol.17
, pp. 411-422
-
-
Everett, L.A.1
Glaser, B.2
Beck, J.C.3
Idol, J.R.4
Buchs, A.5
Heyman, M.6
Adawi, F.7
Hazani, E.8
Nassir, E.9
Baxevanis, A.D.10
Sheffield, V.C.11
Green, E.D.12
-
12
-
-
0033578352
-
Expression pattern of the mouse ortholog of the Pendred's syndrome gene (Pds) suggests a key role for pendrin in the inner ear
-
Everett LA, Morsli H, Wu DK, Green ED (1999) Expression pattern of the mouse ortholog of the Pendred's syndrome gene (Pds) suggests a key role for pendrin in the inner ear. Proc Natl Acad Sci USA 96:9727-9732
-
(1999)
Proc Natl Acad Sci USA
, vol.96
, pp. 9727-9732
-
-
Everett, L.A.1
Morsli, H.2
Wu, D.K.3
Green, E.D.4
-
13
-
-
0346154518
-
Association of congenital deafness with goitre (Pendred's syndrome) a study of 207 Families
-
Fraser GR (1965) Association of congenital deafness with goitre (Pendred's syndrome) a study of 207 Families. Ann Hum Genet 28:201-249
-
(1965)
Ann Hum Genet
, vol.28
, pp. 201-249
-
-
Fraser, G.R.1
-
14
-
-
0037959640
-
Lack of pendrin expression leads to deafness and expansion of the endolymphatic compartment in inner ears of Foxi1 null mutant mice
-
Hulander M, Kiernan AE, Blomqvist SR, Carlsson P, Samuelsson EJ, Johansson BR, Steel KP, Enerback S (2003) Lack of pendrin expression leads to deafness and expansion of the endolymphatic compartment in inner ears of Foxi1 null mutant mice. Development 130:2013-2025
-
(2003)
Development
, vol.130
, pp. 2013-2025
-
-
Hulander, M.1
Kiernan, A.E.2
Blomqvist, S.R.3
Carlsson, P.4
Samuelsson, E.J.5
Johansson, B.R.6
Steel, K.P.7
Enerback, S.8
-
15
-
-
0024836093
-
The large vestibular aqueduct syndrome
-
discussion 1242-1243
-
Jackler RK, De La Cruz A (1989) The large vestibular aqueduct syndrome. Laryngoscope 99:1238-1242; discussion 1242-1243
-
(1989)
Laryngoscope
, vol.99
, pp. 1238-1242
-
-
Jackler, R.K.1
De La Cruz, A.2
-
16
-
-
27644451922
-
Estimation of the frequency of occult mutations for an autosomal recessive disease in the presence of genetic heterogeneity: Application to genetic hearing loss disorders
-
Kimberling WJ (2005) Estimation of the frequency of occult mutations for an autosomal recessive disease in the presence of genetic heterogeneity: application to genetic hearing loss disorders. Hum Mutat 26:462-470
-
(2005)
Hum Mutat
, vol.26
, pp. 462-470
-
-
Kimberling, W.J.1
-
17
-
-
0036635292
-
Erratum: Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment
-
Lopez-Bigas N, Melchionda S, de Cid R, Grifa A, Zelante L, Govea N, Arbones ML, Gasparini P, Estivill X (2002) Erratum: Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment. Hum Mutat 20:77-78
-
(2002)
Hum Mutat
, vol.20
, pp. 77-78
-
-
Lopez-Bigas, N.1
Melchionda, S.2
de Cid, R.3
Grifa, A.4
Zelante, L.5
Govea, N.6
Arbones, M.L.7
Gasparini, P.8
Estivill, X.9
-
18
-
-
0037390447
-
Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: Global implications for the epidemiology of deafness
-
Park HJ, Shaukat S, Liu XZ, Hahn SH, Naz S, Ghosh M, Kim HN, Moon SK, Abe S, Tukamoto K, Riazuddin S, Kabra M, Erdenetungalag R, Radnaabazar J, Khan S, Pandya A, Usami SI, Nance WE, Wilcox ER, Riazuddin S, Griffith AJ (2003) Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: Global implications for the epidemiology of deafness. J Med Genet 40:242-248
-
(2003)
J Med Genet
, vol.40
, pp. 242-248
-
-
Park, H.J.1
Shaukat, S.2
Liu, X.Z.3
Hahn, S.H.4
Naz, S.5
Ghosh, M.6
Kim, H.N.7
Moon, S.K.8
Abe, S.9
Tukamoto, K.10
Riazuddin, S.11
Kabra, M.12
Erdenetungalag, R.13
Radnaabazar, J.14
Khan, S.15
Pandya, A.16
Usami, S.I.17
Nance, W.E.18
Wilcox, E.R.19
Riazuddin, S.20
Griffith, A.J.21
more..
-
19
-
-
0942287860
-
Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations
-
Prasad S, Kolln KA, Cucci RA, Trembath RC, Van Camp G, Smith RJ (2004) Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations. Am J Med Genet A 124:1-9
-
(2004)
Am J Med Genet A
, vol.124
, pp. 1-9
-
-
Prasad, S.1
Kolln, K.A.2
Cucci, R.A.3
Trembath, R.C.4
Van Camp, G.5
Smith, R.J.6
-
21
-
-
33845508247
-
Temporal bone imaging in GJB2 deafness
-
Propst EJ, Blaser S, Stockley TL, Harrison RV, Gordon KA, Papsin BC (2006) Temporal bone imaging in GJB2 deafness. Laryngoscope 116:2178-2186
-
(2006)
Laryngoscope
, vol.116
, 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
-
22
-
-
13444254030
-
SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): Evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities
-
Pryor SP, Madeo AC, Reynolds JC, Sarlis NJ, Arnos KS, Nance WE, Yang Y, Zalewski CK, Brewer CC, Butman JA, Griffith AJ (2005) SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): Evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities. J Med Genet 42:159-165
-
(2005)
J Med Genet
, vol.42
, pp. 159-165
-
-
Pryor, S.P.1
Madeo, A.C.2
Reynolds, J.C.3
Sarlis, N.J.4
Arnos, K.S.5
Nance, W.E.6
Yang, Y.7
Zalewski, C.K.8
Brewer, C.C.9
Butman, J.A.10
Griffith, A.J.11
-
23
-
-
0030815949
-
Pendred syndrome - 100 years of underascertainment?
-
Reardon W, Coffey R, Phelps PD, Luxon LM, Stephens D, Kendall-Taylor P, Britton KE, Grossman A, Trembath R (1997) Pendred syndrome - 100 years of underascertainment? QJM 90:443-447
-
(1997)
QJM
, vol.90
, pp. 443-447
-
-
Reardon, W.1
Coffey, R.2
Phelps, P.D.3
Luxon, L.M.4
Stephens, D.5
Kendall-Taylor, P.6
Britton, K.E.7
Grossman, A.8
Trembath, R.9
-
24
-
-
0033964071
-
Enlarged vestibular aqueduct: A radiological marker of pendred syndrome, and mutation of the PDS gene
-
Reardon W, OMahoney CF, Trembath R, Jan H, Phelps PD (2000) Enlarged vestibular aqueduct: A radiological marker of pendred syndrome, and mutation of the PDS gene. QJM 93:99-104
-
(2000)
QJM
, vol.93
, pp. 99-104
-
-
Reardon, W.1
OMahoney, C.F.2
Trembath, R.3
Jan, H.4
Phelps, P.D.5
-
25
-
-
0033956476
-
Human pendrin expressed in Xenopus laevis oocytes mediates chloride/ formate exchange
-
Scott DA, Karniski LP (2000) Human pendrin expressed in Xenopus laevis oocytes mediates chloride/formate exchange. Am J Physiol Cell Physiol 278:C207-C211
-
(2000)
Am J Physiol Cell Physiol
, vol.278
-
-
Scott, D.A.1
Karniski, L.P.2
-
26
-
-
0032901865
-
The Pendred syndrome gene encodes a chloride-iodide transport protein
-
Scott DA, Wang R, Kreman TM, Sheffield VC, Karniski LP (1999) The Pendred syndrome gene encodes a chloride-iodide transport protein. Nat Genet 21:440-443
-
(1999)
Nat Genet
, vol.21
, pp. 440-443
-
-
Scott, D.A.1
Wang, R.2
Kreman, T.M.3
Sheffield, V.C.4
Karniski, L.P.5
-
27
-
-
0034235222
-
Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4)
-
Scott DA, Wang R, Kreman TM, Andrews M, McDonald JM, Bishop JR, Smith RJ, Karniski LP, Sheffield VC (2000) Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4). Hum Mol Genet 9:1709-1715
-
(2000)
Hum Mol Genet
, vol.9
, pp. 1709-1715
-
-
Scott, D.A.1
Wang, R.2
Kreman, T.M.3
Andrews, M.4
McDonald, J.M.5
Bishop, J.R.6
Smith, R.J.7
Karniski, L.P.8
Sheffield, V.C.9
-
28
-
-
1642547003
-
Vestibular-evoked myogenic potentials in three patients with large vestibular aqueduct
-
Sheykholeslami K, Schmerber S, Habiby Kermany M, Kaga K (2004) Vestibular-evoked myogenic potentials in three patients with large vestibular aqueduct. Hear Res 190:161-168
-
(2004)
Hear Res
, vol.190
, pp. 161-168
-
-
Sheykholeslami, K.1
Schmerber, S.2
Habiby Kermany, M.3
Kaga, K.4
-
29
-
-
14744282666
-
Sensorineural hearing loss in children
-
Smith RJ, Bale JF Jr, White KR (2005) Sensorineural hearing loss in children. Lancet 365:879-890
-
(2005)
Lancet
, vol.365
, pp. 879-890
-
-
Smith, R.J.1
Bale Jr., J.F.2
White, K.R.3
-
30
-
-
0346025681
-
Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: A unique spectrum of mutations in Japanese
-
Tsukamoto K, Suzuki H, Harada D, Namba A, Abe S, Usami S (2003) Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: A unique spectrum of mutations in Japanese. Eur J Hum Genet 11:916-922
-
(2003)
Eur J Hum Genet
, vol.11
, pp. 916-922
-
-
Tsukamoto, K.1
Suzuki, H.2
Harada, D.3
Namba, A.4
Abe, S.5
Usami, S.6
-
31
-
-
0017973478
-
The large vestibular aqueduct syndrome
-
Valvassori GE, Clemis JD (1978) The large vestibular aqueduct syndrome. Laryngoscope 88:723-728
-
(1978)
Laryngoscope
, vol.88
, pp. 723-728
-
-
Valvassori, G.E.1
Clemis, J.D.2
-
32
-
-
7144253130
-
Two frequent missense mutations in Pendred syndrome
-
Van Hauwe P, Everett LA, Coucke P, Scott DA, Kraft ML, Ris-Stalpers C, Bolder C, Otten B, de Vijlder JJ, Dietrich NL, Ramesh A, Srisailapathy SC, Parving A, Cremers CW, Willems PJ, Smith RJ, Green ED, Van Camp G (1998) Two frequent missense mutations in Pendred syndrome. Hum Mol Genet 7:1099-1104
-
(1998)
Hum Mol Genet
, vol.7
, pp. 1099-1104
-
-
Van Hauwe, P.1
Everett, L.A.2
Coucke, P.3
Scott, D.A.4
Kraft, M.L.5
Ris-Stalpers, C.6
Bolder, C.7
Otten, B.8
de Vijlder, J.J.9
Dietrich, N.L.10
Ramesh, A.11
Srisailapathy, S.C.12
Parving, A.13
Cremers, C.W.14
Willems, P.J.15
Smith, R.J.16
Green, E.D.17
Van Camp, G.18
-
33
-
-
33645563398
-
Outcomes of clinical examination and genetic testing of 500 individuals with hearing loss evaluated through a genetics of hearing loss clinic
-
Yaeger D, McCallum J, Lewis K, Soslow L, Shah U, Potsic W, Stolle C, Krantz ID (2006) Outcomes of clinical examination and genetic testing of 500 individuals with hearing loss evaluated through a genetics of hearing loss clinic. Am J Med Genet A 140:827-836
-
(2006)
Am J Med Genet A
, vol.140
, pp. 827-836
-
-
Yaeger, D.1
McCallum, J.2
Lewis, K.3
Soslow, L.4
Shah, U.5
Potsic, W.6
Stolle, C.7
Krantz, I.D.8
-
34
-
-
34250803246
-
Transcriptional control of SLC26A4 is involved in Pendred syndrome and non-syndromic enlargement of vestibular aqueduct (DFNB4)
-
Yang T, Vidarsson H, Rodrigo-Blomqvist S, Rosengren SS, Enerbäck S, Smith RJH (2007) Transcriptional control of SLC26A4 is involved in Pendred syndrome and non-syndromic enlargement of vestibular aqueduct (DFNB4). Am J Hum Genet 80(6):1055-1063
-
(2007)
Am J Hum Genet
, vol.80
, Issue.6
, pp. 1055-1063
-
-
Yang, T.1
Vidarsson, H.2
Rodrigo-Blomqvist, S.3
Rosengren, S.S.4
Enerbäck, S.5
Smith, R.J.H.6
|