-
1
-
-
0032476116
-
Progressive hearing loss, hypoplasia of the cochlea and widened vestibular aqueducts are very common features in Pendred's syndrome
-
Cremers CWRJ, Admiraal RJC, Huygen PLM, Bolder C, Everett LA, Joosten FBM, 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.R.J.1
Admiraal, R.J.C.2
Huygen, P.L.M.3
Bolder, C.4
Everett, L.A.5
Joosten, F.B.M.6
Green, E.D.7
Van Camp, G.8
Otten, B.J.9
-
2
-
-
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 (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
-
3
-
-
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
-
4
-
-
49749185875
-
Association of congenital deafness with goiter: The nature of the thyroid defect
-
Morgans ME, Trotter WR (1958) Association of congenital deafness with goiter: the nature of the thyroid defect. Lancet 1:607-609
-
(1958)
Lancet
, vol.1
, pp. 607-609
-
-
Morgans, M.E.1
Trotter, W.R.2
-
5
-
-
0033578352
-
Expression pattern of the mouse ortholog of the Pendred's syndrome gene (Pds) suggests a key role for pendrin in the inner ear
-
USA
-
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
, vol.96
, pp. 9727-9732
-
-
Everett, L.A.1
Morsli, H.2
Wu, D.K.3
Green, E.D.4
-
6
-
-
0035862723
-
Targeted disruption of mouse Pds provides insight about the inner-ear defects encountered in Pendred syndrome
-
Everett LA, Belyantseva IA, Noben-Trauth K, Cantos R, Chen A, Thakkar SI, Hooqstraten-Miller SL, Kachar B, Wu DK, Green ED (2001) Targeted disruption of mouse Pds provides insight about the inner-ear defects encountered in Pendred syndrome. Hum Mol Genet 10:153-161
-
(2001)
Hum Mol Genet
, vol.10
, pp. 153-161
-
-
Everett, L.A.1
Belyantseva, I.A.2
Noben-Trauth, K.3
Cantos, R.4
Chen, A.5
Thakkar, S.I.6
Hooqstraten-Miller, S.L.7
Kachar, B.8
Wu, D.K.9
Green, E.D.10
-
7
-
-
0035214470
-
Phenotypes associated with replacement of His by Arg in the Pendred syndrome gene
-
Sato E, Nakashima T, Miura Y, Furuhashi A, Nakayama A, Mori N, Murakami H, Naganawa S, Tadokoro M (2001) Phenotypes associated with replacement of His by Arg in the Pendred syndrome gene. Eur J Endocrinol 145:697-703
-
(2001)
Eur J Endocrinol
, vol.145
, pp. 697-703
-
-
Sato, E.1
Nakashima, T.2
Miura, Y.3
Furuhashi, A.4
Nakayama, A.5
Mori, N.6
Murakami, H.7
Naganawa, S.8
Tadokoro, M.9
-
8
-
-
0028856092
-
Advanced techniques in magnetic resonance imaging in the evaluation of the large endolymphatic duct and sac syndrome
-
Harnsberger HR, Dahlen RT, Shelton C, Gray SD, Parkin JL (1995) Advanced techniques in magnetic resonance imaging in the evaluation of the large endolymphatic duct and sac syndrome. Laryngoscope 105:1037-1042
-
(1995)
Laryngoscope
, vol.105
, pp. 1037-1042
-
-
Harnsberger, H.R.1
Dahlen, R.T.2
Shelton, C.3
Gray, S.D.4
Parkin, J.L.5
-
9
-
-
0034900228
-
Long-term audiological feature in Pendred syndrome caused by PDS mutation
-
Iwasaki S, Usami S, Abe S, Isoda H, Watanabe T, Hoshino T (2001) Long-term audiological feature in Pendred syndrome caused by PDS mutation. Arch Otolaryngol Head Neck Surg 127:705-708
-
(2001)
Arch Otolaryngol Head Neck Surg
, vol.127
, pp. 705-708
-
-
Iwasaki, S.1
Usami, S.2
Abe, S.3
Isoda, H.4
Watanabe, T.5
Hoshino, T.6
-
10
-
-
0028022157
-
Fluctuating and/or progressive sensorineural hearing loss in children
-
Brookhouser PE, Worthington DW, Kelly WJ (1994) Fluctuating and/or progressive sensorineural hearing loss in children. Laryngoscope 104:958-964
-
(1994)
Laryngoscope
, vol.104
, pp. 958-964
-
-
Brookhouser, P.E.1
Worthington, D.W.2
Kelly, W.J.3
-
11
-
-
0033772575
-
MR imaging of the enlarged endolymphatic duct and sac syndrome by use of a 3D-fast asymmetric spin-echo sequence: Volume and signal-intensity measurement of the endolymphatic duct and sac and area measurement of the cochlea modiolus
-
Naganawa S, Koshikawa T, Iwayama E, Fukatsu H, Ishiguchi T, Ishigaki T, Ikeda M, Nakashima T, Ichinose N (2000) MR imaging of the enlarged endolymphatic duct and sac syndrome by use of a 3D-fast asymmetric spin-echo sequence: volume and signal-intensity measurement of the endolymphatic duct and sac and area measurement of the cochlea modiolus. Am J Neuroradiol 21:1664-1669
-
(2000)
Am J Neuroradiol
, vol.21
, pp. 1664-1669
-
-
Naganawa, S.1
Koshikawa, T.2
Iwayama, E.3
Fukatsu, H.4
Ishiguchi, T.5
Ishigaki, T.6
Ikeda, M.7
Nakashima, T.8
Ichinose, N.9
-
12
-
-
18244415920
-
The gene for Pendred syndrome is located between D7S 501 and D7S 692 in a 1.7-cM region on chromosome 7q
-
Coucke P, Van Camp G, Demirhan O, Kabakkaya Y, Balemans W, Van Hauwe P, Van Aqtmael T, Smith RJ, Parving A, Bolder CH, Cremers CW, Willems PJ (1997) The gene for Pendred syndrome is located between D7S 501 and D7S 692 in a 1.7-cM region on chromosome 7q. Genomics 40:48-54
-
(1997)
Genomics
, vol.40
, pp. 48-54
-
-
Coucke, P.1
Van Camp, G.2
Demirhan, O.3
Kabakkaya, Y.4
Balemans, W.5
Van Hauwe, P.6
Van Aqtmael, T.7
Smith, R.J.8
Parving, A.9
Bolder, C.H.10
Cremers, C.W.11
Willems, P.J.12
-
13
-
-
0017164127
-
Het syndroom van Pendred. Een autosomaal recessief syndroom met doofheid en een synthesestoornis in de schildklier. T
-
Cremers CWRJ (1976) Het syndroom van Pendred. Een autosomaal recessief syndroom met doofheid en een synthesestoornis in de schildklier. T. Kindergeneesk 44:89-99
-
(1976)
Kindergeneesk
, vol.44
, pp. 89-99
-
-
Cremers, C.W.R.J.1
-
14
-
-
7144253130
-
Two frequent missense mutations in Pendred syndrome
-
Hauwe PV, 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
-
-
Hauwe, P.V.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
-
15
-
-
0033015606
-
Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations
-
Usami S, Abe S, Weston MD, Shinkawa H, Camp GV, Kimberling WJ (1999) Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations. Hum Genet 104:188-192
-
(1999)
Hum Genet
, vol.104
, pp. 188-192
-
-
Usami, S.1
Abe, S.2
Weston, M.D.3
Shinkawa, H.4
Camp, G.V.5
Kimberling, W.J.6
-
16
-
-
0034157691
-
Mutations of the Pendred syndrome gene (PDS) in patients with large vestibular aqueduct
-
Kitamura K, Takahashi K, Noguchi Y, Kuroishikawa Y, Tamagawa Y, Ishikawa K, Ichimura K, Hagiwara H (2000) Mutations of the Pendred syndrome gene (PDS) in patients with large vestibular aqueduct. Acta Otolaryngol 120:137-141
-
(2000)
Acta Otolaryngol
, vol.120
, pp. 137-141
-
-
Kitamura, K.1
Takahashi, K.2
Noguchi, Y.3
Kuroishikawa, Y.4
Tamagawa, Y.5
Ishikawa, K.6
Ichimura, K.7
Hagiwara, H.8
-
17
-
-
26444560134
-
Evaluation of the distribution and movement of iodine in the environment
-
Muramatsu Y, Ohmomo Y (1988) Evaluation of the distribution and movement of iodine in the environment. Hoshasenkagaku (in Japanese) 31:199-203
-
(1988)
Hoshasenkagaku (in Japanese)
, vol.31
, pp. 199-203
-
-
Muramatsu, Y.1
Ohmomo, Y.2
-
20
-
-
1242333551
-
Serial MR imaging studies in enlarged endolymphatic duct and sac syndrome
-
Naganawa S, Koshikawa T, Fukatsu H, Ishigaki T, Nakashima T (2002) Serial MR imaging studies in enlarged endolymphatic duct and sac syndrome. Eur Radiol [Suppl] 12:114-117
-
(2002)
Eur Radiol [Suppl]
, vol.12
, pp. 114-117
-
-
Naganawa, S.1
Koshikawa, T.2
Fukatsu, H.3
Ishigaki, T.4
Nakashima, T.5
-
21
-
-
0038636912
-
Enlarged vestibular aqueduct syndrome in the pediatric population
-
Madden C, Halsted M, Benton C, Greinwald J, Choo D (2003) Enlarged vestibular aqueduct syndrome in the pediatric population. Otol Neurotol 24:625-632
-
(2003)
Otol Neurotol
, vol.24
, pp. 625-632
-
-
Madden, C.1
Halsted, M.2
Benton, C.3
Greinwald, J.4
Choo, D.5
-
22
-
-
0024836093
-
The large vestibular aqueduct syndrome
-
Jackler RK, De La Cruz A (1989) The large vestibular aqueduct syndrome. Laryngoscope 99:1238-1243
-
(1989)
Laryngoscope
, vol.99
, pp. 1238-1243
-
-
Jackler, R.K.1
De La Cruz, A.2
-
23
-
-
0028962606
-
Sensorineural hearing loss in patients with large vestibular aqueduct
-
Okamura T, Takahashi H, Honjo I, Takagi A, Mitamura K (1995) Sensorineural hearing loss in patients with large vestibular aqueduct. Laryngoscope 105:289-294
-
(1995)
Laryngoscope
, vol.105
, pp. 289-294
-
-
Okamura, T.1
Takahashi, H.2
Honjo, I.3
Takagi, A.4
Mitamura, K.5
-
24
-
-
0032743858
-
MR imaging of the cochlea modiolus: Area measurement in healthy subjects and in patients with a large endolymphatic duct and sac
-
Naganawa S, Ito T, Iwayama E, Fukatsu H, Ishigaki T, Nakashima T, Ichinose N (1999) MR imaging of the cochlea modiolus: area measurement in healthy subjects and in patients with a large endolymphatic duct and sac. Radiology 231:819-823
-
(1999)
Radiology
, vol.231
, pp. 819-823
-
-
Naganawa, S.1
Ito, T.2
Iwayama, E.3
Fukatsu, H.4
Ishigaki, T.5
Nakashima, T.6
Ichinose, N.7
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