-
1
-
-
0029815337
-
Prevalence and mechanisms of hearing loss in patients with resistance to thyroid hormone
-
DOI 10.1210/jc.81.8.2768
-
Brucker- Davis F, Skarulis MC, Pikus A, Ishizawar D, Mastroianni MA, Koby M, Weintraub BD: Prevalence and mechanisms of hearing loss in patients with resistance to thyroid hormone. J Clin Endocrinol Metab 1996;81:2768-2772. (Pubitemid 26323860)
-
(1996)
Journal of Clinical Endocrinology and Metabolism
, vol.81
, Issue.8
, pp. 2768-2772
-
-
Brucker-Davis, F.1
Skarulis, M.C.2
Pikus, A.3
Ishizawar, D.4
Mastroianni, M.-A.5
Koby, M.6
Weintraub, B.D.7
-
2
-
-
50549149000
-
Deaf-mutism and goitre
-
Pendred V: Deaf- mutism and goitre. Lancet 1896;ii:532.
-
(1896)
Lancet
, vol.2
, pp. 532
-
-
Pendred, V.1
-
3
-
-
49749185875
-
Association of congenital deafness with goitre the nature of the thyroid defect
-
Morgans ME, Trotter WR: Association of congenital deafness with goitre; the nature of the thyroid defect. Lancet 1958;i:607-609.
-
(1958)
Lancet
, vol.1
, pp. 607-609
-
-
Morgans, M.E.1
Trotter, W.R.2
-
4
-
-
0031894359
-
Radiological malformations of the ear in pendred syndrome
-
DOI 10.1016/S0009-9260(98)80125-6
-
Phelps PD, Coffey RA, Trembath RC, et al: Radiological malformations of the ear in Pendred syndrome. Clin Radiol 1998; 53:268-273. (Pubitemid 28171170)
-
(1998)
Clinical Radiology
, vol.53
, Issue.4
, pp. 268-273
-
-
Phelps, P.D.1
Coffey, R.A.2
Trembath, R.C.3
Luxon, L.M.4
Grossman, A.B.5
Britton, K.E.6
Kendall-Taylor, P.7
Graham, J.M.8
Cadge, B.C.9
Stephens, S.G.D.10
Pembrey, M.E.11
Reardon, W.12
-
5
-
-
0346154518
-
Association of congenital deafness with goitre pendreds syndrome a study of 207 families
-
Fraser GR: Association of congenital deafness with goitre (Pendred syndrome) a study of 207 families. Ann Hum Genet 1965;28:201-249.
-
(1965)
Ann. Hum. Genet.
, vol.28
, pp. 201-249
-
-
Fraser, G.R.1
-
6
-
-
16944366606
-
Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)
-
Everett LA, Glaser B, Beck JC, et al: Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). Nat Genet 1997;17:411-422. (Pubitemid 27518389)
-
(1997)
Nature Genetics
, vol.17
, Issue.4
, 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
-
7
-
-
0032011145
-
A mutation in PDS causes non-syndromic recessive deafness
-
Li XC, Everett LA, Lalwani AK, Desmukh D, Friedman TB, Green ED, Wilcox ER: A mutation in PDS causes non- syndromic recessive deafness. Nat Genet 1998;18:215-217.
-
(1998)
Nat. Genet.
, vol.18
, pp. 215-217
-
-
Li, X.C.1
Everett, L.A.2
Lalwani, A.K.3
Desmukh, D.4
Friedman, T.B.5
Green, E.D.6
Wilcox, E.R.7
-
8
-
-
0033015606
-
Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations
-
DOI 10.1007/s004390050933
-
Usami S, Abe S, Weston MD, Shinkawa H, Van Camp G, Kimberling WJ: Nonsyndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations. Hum Genet 1999; 104:188-192. (Pubitemid 29123612)
-
(1999)
Human Genetics
, vol.104
, Issue.2
, pp. 188-192
-
-
Usami, S.-I.1
Abe, S.2
Weston, M.D.3
Shinkawa, H.4
Van Camp, G.5
Kimberling, W.J.6
-
9
-
-
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
-
DOI 10.1136/jmg.2004.024208
-
Pryor SP, Madeo AC, Reynolds JC, et al: 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 2005; 42:159-165. (Pubitemid 40204371)
-
(2005)
Journal of Medical Genetics
, vol.42
, Issue.2
, 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
-
10
-
-
33744496526
-
SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations
-
DOI 10.1038/sj.ejhg.5201611, PII 5201611
-
Albert S, Blons H, Jonard L, et al: SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations. Eur J Hum Genet 2006;14:773-779. (Pubitemid 43797276)
-
(2006)
European Journal of Human Genetics
, vol.14
, Issue.6
, 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..
-
11
-
-
34247105691
-
Evidence of a novel gene for the LAVsyndrome
-
Birkenhager R, Zimmer AJ, Maier W, Klenzner T, Aschendorff A, Schipper J: Evidence of a novel gene for the LAVsyndrome. Laryngo- Rhino- Otologie 2007;86:102-106.
-
(2007)
Laryngo-Rhino-Otologie
, vol.86
, pp. 102-106
-
-
Birkenhager, R.1
Zimmer, A.J.2
Maier, W.3
Klenzner, T.4
Aschendorff, A.5
Schipper, J.6
-
12
-
-
72749088921
-
Segregation of enlarged vestibular aqueducts in families with non-diagnostic SLC26A4 genotypes
-
Choi BY, Madeo AC, King KA, Zalewski CK, Pryor SP, Muskett JA, Nance WE, Butman JA, Brewer CC, Griffith AJ: Segregation of enlarged vestibular aqueducts in families with non- diagnostic SLC26A4 genotypes. J Med Genet 2009; 46:856-861.
-
(2009)
J. Med. Genet.
, vol.46
, pp. 856-861
-
-
Choi, B.Y.1
Madeo, A.C.2
King, K.A.3
Zalewski, C.K.4
Pryor, S.P.5
Muskett, J.A.6
Nance, W.E.7
Butman, J.A.8
Brewer, C.C.9
Griffith, A.J.10
-
13
-
-
67649523527
-
SLC26A4 mutation spectrum associated with DFNB4 deafness and pendreds syndrome in Pakistanis
-
Anwar S, Riazuddin S, Ahmed ZM, Tasneem S, Ateeq ul J, Khan SY, Griffith AJ, Friedman TB, Riazuddin S: SLC26A4 mutation spectrum associated with DFNB4 deafness and Pendred syndrome in Pakistanis. J Hum Genet 2009; 54:266-270.
-
(2009)
J. Hum. Genet.
, vol.54
, pp. 266-270
-
-
Anwar, S.1
Riazuddin, S.2
Ahmed, Z.M.3
Tasneem, S.4
Ateeq Ul, J.5
Khan, S.Y.6
Griffith, A.J.7
Friedman, T.B.8
Riazuddin, S.9
-
15
-
-
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, et al: Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness. J Med Genet 2003;40:242-248. (Pubitemid 36506436)
-
(2003)
Journal of Medical Genetics
, vol.40
, Issue.4
, 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..
-
16
-
-
0035546135
-
Fluctuant, progressive hearing loss associated with Meniere like vertigo in three patients with the Pendred syndrome
-
DOI 10.1016/S0165-5876(01)00573-0, PII S0165587601005730
-
Stinckens C, Huygen PL, Joosten FB, Van Camp G, Otten B, Cremers CW: Fluctuant, progressive hearing loss associated with Meniere like vertigo in three patients with the Pendred syndrome. Int J Pediatr Otorhinolaryngol 2001;61:207-215. (Pubitemid 32999029)
-
(2001)
International Journal of Pediatric Otorhinolaryngology
, vol.61
, Issue.3
, pp. 207-215
-
-
Stinckens, C.1
Huygen, P.L.M.2
Joosten, F.B.M.3
Van Camp, G.4
Otten, B.5
Cremers, C.W.R.J.6
-
17
-
-
0017973478
-
The large vestibular aqueduct syndrome
-
Valvassori GE, Clemis JD: The large vestibular aqueduct syndrome. Laryngoscope 1978;88:723-728.
-
(1978)
Laryngoscope
, vol.88
, pp. 723-728
-
-
Valvassori, G.E.1
Clemis, J.D.2
-
18
-
-
0032756826
-
Audiological findings in large vestibular aqueduct syndrome
-
Govaerts PJ, Casselman J, Daemers K, De Ceulaer G, Somers T, Offeciers FE: Audiological findings in large vestibular aqueduct syndrome. Int J Pediatr Otorhinolaryngol 1999;51:157-164.
-
(1999)
Int. J. Pediatr. Otorhinolaryngol.
, vol.51
, pp. 157-164
-
-
Govaerts, P.J.1
Casselman, J.2
Daemers, K.3
De Ceulaer, G.4
Somers, T.5
Offeciers, F.E.6
-
19
-
-
0033864004
-
Air-bone gap and resonant frequency in large vestibular aqueduct syndrome
-
Nakashima T, Ueda H, Furuhashi A, Sato E, Asahi K, Naganawa S, Beppu R: Air- bone gap and resonant frequency in large vestibular aqueduct syndrome. Am J Otol 2000;21:671-674.
-
(2000)
Am. J. Otol.
, vol.21
, pp. 671-674
-
-
Nakashima, T.1
Ueda, H.2
Furuhashi, A.3
Sato, E.4
Asahi, K.5
Naganawa, S.6
Beppu, R.7
-
20
-
-
5644233801
-
Audiometric findings in children with a large vestibular aqueduct
-
DOI 10.1001/archotol.130.10.1169
-
Arjmand EM, Webber A: Audiometric findings in children with a large vestibular aqueduct. Arch Otolaryngol Head Neck Surg 2004;130:1169-1174. (Pubitemid 39371961)
-
(2004)
Archives of Otolaryngology - Head and Neck Surgery
, vol.130
, Issue.10
, pp. 1169-1174
-
-
Arjmand, E.M.1
Webber, A.2
-
21
-
-
34447521956
-
Clinical investigation and mechanism of air-bone gaps in large vestibular aqueduct syndrome
-
Merchant SN, Nakajima HH, Halpin C, Nadol JB Jr, Lee DJ, Innis WP, Curtin H, Rosowski JJ: Clinical investigation and mechanism of air- bone gaps in large vestibular aqueduct syndrome. Ann Otol Rhinol Laryngol 2007;116:532-541. (Pubitemid 47080814)
-
(2007)
Annals of Otology, Rhinology and Laryngology
, vol.116
, Issue.7
, pp. 532-541
-
-
Merchant, S.N.1
Nakajima, H.H.2
Halpin, C.3
Nadol Jr., J.B.4
Lee, D.J.5
Innis, W.P.6
Curtin, H.7
Rosowski, J.J.8
-
22
-
-
76249085928
-
SLC26A4 genotype but not cochlear radiologic structure is correlated with hearing loss in ears with an enlarged vestibular aqueduct
-
King KA, Choi BY, Zalewski C, et al: SLC26A4 genotype, but not cochlear radiologic structure, is correlated with hearing loss in ears with an enlarged vestibular aqueduct. Laryngoscope 2010;120:384-389.
-
(2010)
Laryngoscope
, vol.120
, pp. 384-389
-
-
King, K.A.1
Choi, B.Y.2
Zalewski, C.3
-
23
-
-
56149098099
-
Delineating the hearing loss in children with enlarged vestibular aqueduct
-
Zhou G, Gopen Q, Kenna MA: Delineating the hearing loss in children with enlarged vestibular aqueduct. Laryngoscope 2008;118:2062-2066.
-
(2008)
Laryngoscope
, vol.118
, pp. 2062-2066
-
-
Zhou, G.1
Gopen, Q.2
Kenna, M.A.3
-
25
-
-
74049164250
-
Efficient molecular genetic diagnosis of enlarged vestibular aqueducts in East Asians
-
Choi BY, Stewart AK, Nishimura KK, et al: Efficient molecular genetic diagnosis of enlarged vestibular aqueducts in East Asians. Genet Testing Mol Biomarkers 2009;13:679-687.
-
(2009)
Genet. Testing Mol. Biomarkers
, vol.13
, pp. 679-687
-
-
Choi, B.Y.1
Stewart, A.K.2
Nishimura, K.K.3
-
26
-
-
33750685044
-
Long-term follow-up of hearing loss in children and young adults with enlarged vestibular aqueducts: Relationship to radiologic findings and Pendred syndrome diagnosis
-
DOI 10.1097/01.mlg.0000240908.88759.fe, PII 0000553720061100000017
-
Colvin IB, Beale T, Harrop- Griffiths K: Long- term follow- up of hearing loss in children and young adults with enlarged vestibular aqueducts: relationship to radiologic findings and Pendred syndrome diagnosis. Laryngoscope 2006;116:2027-2036. (Pubitemid 44704386)
-
(2006)
Laryngoscope
, vol.116
, Issue.11
, pp. 2027-2036
-
-
Colvin, I.B.1
Beale, T.2
Harrop-Griffiths, K.3
-
27
-
-
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: Pendred syndrome - 100 years of underascertainment? Q J Med 1997;90:443-447. (Pubitemid 27331601)
-
(1997)
QJM - Monthly Journal of the Association of Physicians
, vol.90
, Issue.7
, 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
-
28
-
-
67651095755
-
Evaluation of the thyroid in patients with hearing loss and enlarged vestibular aqueducts
-
Madeo AC, Manichaikul A, Reynolds JC, Sarlis NJ, Pryor SP, Shawker TH, Griffith AJ: Evaluation of the thyroid in patients with hearing loss and enlarged vestibular aqueducts. Arch Otolaryngol Head Neck Surg 2009;135:670-676.
-
(2009)
Arch. Otolaryngol. Head Neck Surg.
, vol.135
, pp. 670-676
-
-
Madeo, A.C.1
Manichaikul, A.2
Reynolds, J.C.3
Sarlis, N.J.4
Pryor, S.P.5
Shawker, T.H.6
Griffith, A.J.7
-
29
-
-
0032773714
-
Prevalence, age of onset, and natural history of thyroid disease in Pendred syndrome
-
Reardon W, Coffey R, Chowdhury T, Grossman A, Jan H, Britton K, Kendall- Taylor P, Trembath R: Prevalence, age of onset, and natural history of thyroid disease in Pendred syndrome. J Med Genet 1999;36:595-598. (Pubitemid 29368898)
-
(1999)
Journal of Medical Genetics
, vol.36
, Issue.8
, pp. 595-598
-
-
Reardon, W.1
Coffey, R.2
Chowdhury, T.3
Grossman, A.4
Jan, H.5
Britton, K.6
Kendall-Taylor, P.7
Trembath, R.8
-
30
-
-
0023608835
-
Pendred's syndrome. Acoustic, vestibular and radiological findings in 17 unrelated patients
-
Johnsen T, Larsen C, Friis J, Hougaard- Jensen F: Pendred syndrome: acoustic, vestibular and radiological findings in 17 unrelated patients. J Laryngol Otol 1987;101:1187-1192. (Pubitemid 18049468)
-
(1987)
Journal of Laryngology and Otology
, vol.101
, Issue.11
, pp. 1187-1192
-
-
Johnsen, T.1
Larsen, C.2
Friis, J.3
Hougaard-Jensen, F.H.4
-
31
-
-
63749096761
-
Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: Genotype-phenotype correlation or coincidental polymorphisms
-
Choi BY, Stewart AK, Madeo AC, et al: Hypo- functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype- phenotype correlation or coincidental polymorphisms? Hum Mutat 2009;30:599-608.
-
(2009)
Hum. Mutat.
, vol.30
, pp. 599-608
-
-
Choi, B.Y.1
Stewart, A.K.2
Madeo, A.C.3
-
32
-
-
0032901865
-
The Pendred syndrome gene encodes a chloride-iodide transport protein
-
DOI 10.1038/7783
-
Scott DA, Wang R, Kreman TM, Sheffield VC, Karniski LP: The Pendred syndrome gene encodes a chlorideiodide transport protein. Nat Genet 1999;21:440-443. (Pubitemid 29159585)
-
(1999)
Nature Genetics
, vol.21
, Issue.4
, pp. 440-443
-
-
Scott, D.A.1
Wang, R.2
Kreman, T.M.3
Sheffield, V.C.4
Karniski, L.P.5
-
34
-
-
0035957363
-
Pendrin, encoded by the pendred syndrome gene, resides in the apical region of renal intercalated cells and mediates bicarbonate secretion
-
DOI 10.1073/pnas.071516798
-
Royaux IE, Wall SM, Karniski LP, Everett LA, Suzuki K, Knepper MA, Green ED: Pendrin, encoded by the Pendred syndrome gene, resides in the apical region of renal intercalated cells and mediates bicarbonate secretion. Proc Natl Acad Sci USA 2001;98:4221-4226. (Pubitemid 32249925)
-
(2001)
Proceedings of the National Academy of Sciences of the United States of America
, vol.98
, Issue.7
, pp. 4221-4226
-
-
Royaux, I.E.1
Wall, S.M.2
Karniski, L.P.3
Everett, L.A.4
Suzuki, K.5
Knepper, M.A.6
Green, E.D.7
-
35
-
-
1842581804
-
Functional characterization of pendrin in a polarized cell system: Evidence for pendrin-mediated apical iodide efflux
-
DOI 10.1074/jbc.M313648200
-
Gillam MP, Sidhaye AR, Lee EJ, Rutishauser J, Stephan CW, Kopp P: Functional characterization of pendrin in a polarized cell system: evidence for pendrin- mediated apical iodide efflux. J Biol Chem 2004;279:13004-13010. (Pubitemid 38445877)
-
(2004)
Journal of Biological Chemistry
, vol.279
, Issue.13
, pp. 13004-13010
-
-
Gillam, M.P.1
Sidhaye, A.R.2
Lee, E.J.3
Rutishauser, J.4
Stephan, C.W.5
Kopp, P.6
-
36
-
-
0141729459
-
Localization and functional studies of pendrin in the mouse inner ear provide insight about the etiology of deafness in Pendred syndrome
-
DOI 10.1007/s10162-002-3052-4
-
Royaux IE, Belyantseva IA, Wu T, Kachar B, Everett LA, Marcus DC, Green ED: Localization and functional studies of pendrin in the mouse inner ear provide insight about the etiology of deafness in pendred syndrome. J Assoc Res Otolaryngol 2003;4:394-404. (Pubitemid 37187818)
-
(2003)
JARO - Journal of the Association for Research in Otolaryngology
, vol.4
, Issue.3
, pp. 394-404
-
-
Royaux, I.E.1
Belyantseva, I.A.2
Wu, T.3
Kachar, B.4
Everett, L.A.5
Marcus, D.C.6
Green, E.D.7
-
37
-
-
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, Hoogstraten- Miller SL, Kachar B, Wu DK, Green ED: Targeted disruption of mouse PDS provides insight about the inner- ear defects encountered in Pendred syndrome. Hum Mol Genet 2001;10:153-161. (Pubitemid 32098125)
-
(2001)
Human Molecular Genetics
, vol.10
, Issue.2
, 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
Hoogstraten-Miller, S.L.7
Kachar, B.8
Wu, D.K.9
Green, E.D.10
-
38
-
-
33846973634
-
Macrophage invasion contributes to degeneration of stria vascularis in pendred syndrome mouse model
-
Jabba SV, Oelke A, Singh R, Maganti RJ, Fleming S, Wall SM, Everett LA, Green ED, Wangemann P: Macrophage invasion contributes to degeneration of stria vascularis in Pendred syndrome mouse model. BMC Med 2006;4:37.
-
(2006)
BMC Med.
, vol.4
, pp. 37
-
-
Jabba, S.V.1
Oelke, A.2
Singh, R.3
Maganti, R.J.4
Fleming, S.5
Wall, S.M.6
Everett, L.A.7
Green, E.D.8
Wangemann, P.9
-
39
-
-
34247860643
-
2+ reabsorption in a Pendred syndrome mouse model
-
DOI 10.1152/ajprenal.00487.2006
-
Wangemann P, Nakaya K, Wu T, Maganti RJ, Itza EM, Sanneman JD, Harbidge DG, Billings S, Marcus DC: Loss of cochlear HCO3 - secretion causes deafness via endolymphatic acidification and inhibition of Ca2+ reabsorption in a Pendred syndrome mouse model. Am J Physiol Renal Physiol 2007;292:F1345-F1353. (Pubitemid 46701861)
-
(2007)
American Journal of Physiology - Renal Physiology
, vol.292
, Issue.5
-
-
Wangemann, P.1
Nakaya, K.2
Wu, T.3
Maganti, R.J.4
Itza, E.M.5
Sanneman, J.D.6
Harbidge, D.G.7
Billings, S.8
Marcus, D.C.9
-
40
-
-
38349028899
-
Free radical stress-mediated loss of Kcnj10 protein expression in stria vascularis contributes to deafness in pendred syndrome mouse model
-
Singh R, Wangemann P: Free radical stress- mediated loss of Kcnj10 protein expression in stria vascularis contributes to deafness in Pendred syndrome mouse model. Am J Physiol Renal Physiol 2008; 294:F139-F148.
-
(2008)
Am. J. Physiol. Renal. Physiol.
, vol.294
-
-
Singh, R.1
Wangemann, P.2
-
41
-
-
70350705957
-
Developmental delays consistent with cochlear hypothyroidism contribute to failure to develop hearing in mice lacking Slc26a4/pendrin expression
-
Wangemann P, Kim HM, Billings S, Nakaya K, Li X, Singh R, Sharlin DS, Forrest D, Marcus DC, Fong P: Developmental delays consistent with cochlear hypothyroidism contribute to failure to develop hearing in mice lacking Slc26a4/pendrin expression. Am J Physiol Renal Physiol 2009;297: F1435-F1447.
-
(2009)
Am. J. Physiol. Renal. Physiol.
, vol.297
-
-
Wangemann, P.1
Kim, H.M.2
Billings, S.3
Nakaya, K.4
Li, X.5
Singh, R.6
Sharlin, D.S.7
Forrest, D.8
Marcus, D.C.9
Fong, P.10
-
42
-
-
68849086394
-
Distinct and novel SLC26A4/Pendrin mutations in Chinese and US patients with nonsyndromic hearing loss
-
Dai P, Stewart AK, Chebib F, et al: Distinct and novel SLC26A4/Pendrin mutations in Chinese and US patients with nonsyndromic hearing loss. Physiol Genom 2009;38:281-290.
-
(2009)
Physiol. Genom.
, vol.38
, pp. 281-290
-
-
Dai, P.1
Stewart, A.K.2
Chebib, F.3
-
43
-
-
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
-
DOI 10.1038/sj.ejhg.5201073
-
Tsukamoto K, Suzuki H, Harada D, Namba A, Abe S, Usami S: 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 2003; 11:916-922. (Pubitemid 38072157)
-
(2003)
European Journal of Human Genetics
, vol.11
, Issue.12
, pp. 916-922
-
-
Tsukamoto, K.1
Suzuki, H.2
Harada, D.3
Namba, A.4
Abe, S.5
Usami, S.-I.6
-
44
-
-
84984550566
-
Prevalent SLC26A4 mutations in patients with enlarged vestibular aqueduct and/or mondini dysplasia: A unique spectrum of mutations in Taiwan including a frequent founder mutation
-
Wu CC, Yeh TH, Chen PJ, Hsu CJ: Prevalent SLC26A4 mutations in patients with enlarged vestibular aqueduct and/or Mondini dysplasia: a unique spectrum of mutations in Taiwan, including a frequent founder mutation. Laryngoscope 2005;115:1060-1064.
-
(2005)
Laryngoscope
, vol.115
, pp. 1060-1064
-
-
Wu, C.C.1
Yeh, T.H.2
Chen, P.J.3
Hsu, C.J.4
-
45
-
-
14244250194
-
Genetic basis of hearing loss associated with enlarged vestibular aqueducts in Koreans
-
Park HJ, Lee SJ, Jin HS, et al: Genetic basis of hearing loss associated with enlarged vestibular aqueducts in Koreans. Clin Genet 2005;67:160-165.
-
(2005)
Clin. Genet.
, vol.67
, pp. 160-165
-
-
Park, H.J.1
Lee, S.J.2
Jin, H.S.3
-
46
-
-
55849085776
-
SLC26A4 c.919-2A>G varies among Chinese ethnic groups as a cause of hearing loss
-
Dai P, Li Q, Huang D, et al: SLC26A4 c.919- 2A>G varies among Chinese ethnic groups as a cause of hearing loss. Genet Med 2008;10:586-592.
-
(2008)
Genet. Med.
, vol.10
, pp. 586-592
-
-
Dai, P.1
Li, Q.2
Huang, D.3
-
47
-
-
36349009217
-
Genotype-phenotype correlations for SLC26A4-related deafness
-
Azaiez H, Yang T, Prasad S, Sorensen JL, Nishimura CJ, Kimberling WJ, Smith RJ: Genotype- phenotype correlations for SLC26A4- related deafness. Hum Genet 2007;122:451-457.
-
(2007)
Hum. Genet.
, vol.122
, pp. 451-457
-
-
Azaiez, H.1
Yang, T.2
Prasad, S.3
Sorensen, J.L.4
Nishimura, C.J.5
Kimberling, W.J.6
Smith, R.J.7
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