-
1
-
-
0001385507
-
Deaf mutism and goitre
-
Pendred V. Deaf mutism and goitre. Lancet 1896;2:523
-
(1896)
Lancet
, vol.2
, pp. 523
-
-
Pendred, V.1
-
3
-
-
0028453844
-
Female siblings with Pendred's syndrome
-
Nakagawa O, Ito S, Hanyu O, et al. Female siblings with Pendred's syndrome. Internal Medicine 1994;33:369-72
-
(1994)
Internal Medicine
, vol.33
, pp. 369-372
-
-
Nakagawa, O.1
Ito, S.2
Hanyu, O.3
-
4
-
-
0028086199
-
Clinical and molecular genetics studies in Pendred's syndrome
-
Billerbeck AE, Cavaliere H, Goldberg AC, Kalil J, Medeiros-Neto C. Clinical and molecular genetics studies in Pendred's syndrome. Thyroid 1994;4:279-84
-
(1994)
Thyroid
, vol.4
, pp. 279-284
-
-
Billerbeck, A.E.1
Cavaliere, H.2
Goldberg, A.C.3
Kalil, J.4
Medeiros-Neto, C.5
-
5
-
-
0027471724
-
Pendred's syndrome
-
Kabakkaya Y, Bakan E, Yigitoglu MR, Gökçe C, Dogan M. Pendred's syndrome. Annals Of Otology, Rhinology And Laryngology 1993;102:285-8
-
(1993)
Annals of Otology, Rhinology and Laryngology
, vol.102
, pp. 285-288
-
-
Kabakkaya, Y.1
Bakan, E.2
Yigitoglu, M.R.3
Gökçe, C.4
Dogan, M.5
-
7
-
-
0026480752
-
The association of thyroid dyshormonogenesis and deafness (Pendred syndrome): Experience of the Victorian Neonatal Thyroid Screening Programme
-
Coakley JC, Keir EH, Connelly JF. The association of thyroid dyshormonogenesis and deafness (Pendred syndrome): experience of the Victorian Neonatal Thyroid Screening Programme. J Paediatr Child Health 1992;28:398-401
-
(1992)
J Paediatr Child Health
, vol.28
, pp. 398-401
-
-
Coakley, J.C.1
Keir, E.H.2
Connelly, J.F.3
-
9
-
-
0023930772
-
Thyroid function in patients with Pendred's syndrome
-
Friis J, Johnsen T, Feldt-Rasmussen U, Bech K, Friis T. Thyroid function in patients with Pendred's syndrome. Journal Of Endocrinological Investigation 1988;11:97-101
-
(1988)
Journal of Endocrinological Investigation
, vol.11
, pp. 97-101
-
-
Friis, J.1
Johnsen, T.2
Feldt-Rasmussen, U.3
Bech, K.4
Friis, T.5
-
10
-
-
0023608835
-
Pendred's syndrome. Acoustic, vestibular and radiological findings in 17 unrelated patients
-
Johnsen T, Larsen C, Friis J, Hougaard-Jensen F. Pendred's syndrome. Acoustic, vestibular and radiological findings in 17 unrelated patients. Journal Of Laryngology d Otology 1987;101:1187-92
-
(1987)
Journal of Laryngology d Otology
, vol.101
, pp. 1187-1192
-
-
Johnsen, T.1
Larsen, C.2
Friis, J.3
Hougaard-Jensen, F.4
-
11
-
-
0023071616
-
Two sibs affected by Pendred's syndrome in a family with recurrent goiter
-
Della Bruna M, Mastro AA, Lonardo F, et al. Two sibs affected by Pendred's syndrome in a family with recurrent goiter. Minerva Endocrinologica 1987;12:29-32
-
(1987)
Minerva Endocrinologica
, vol.12
, pp. 29-32
-
-
Della Bruna, M.1
Mastro, A.A.2
Lonardo, F.3
-
15
-
-
0017128369
-
Increased peroxidase activity in Pendred's syndrome with hypothyroidism
-
Yamamoto M, Saito S, Sakurada T, Yoshida K, Yoshinaga K. Increased peroxidase activity in Pendred's syndrome with hypothyroidism. Tohoku Journal Of Experimental Medicine 1976;119:103-13
-
(1976)
Tohoku Journal of Experimental Medicine
, vol.119
, pp. 103-113
-
-
Yamamoto, M.1
Saito, S.2
Sakurada, T.3
Yoshida, K.4
Yoshinaga, K.5
-
16
-
-
0016365354
-
Pituitary-thyroid function in Pendred syndrome
-
Gomez-Pan A, Evered DC, Hall R. Pituitary-thyroid function in Pendred syndrome. Brit Med J 1974;2:152-153
-
(1974)
Brit Med J
, vol.2
, pp. 152-153
-
-
Gomez-Pan, A.1
Evered, D.C.2
Hall, R.3
-
19
-
-
0014651455
-
Pendred's syndrome: Report of two cases
-
Dillon MJ. Pendred's syndrome: report of two cases. Guys Hospital Reports 1969;118:523-32
-
(1969)
Guys Hospital Reports
, vol.118
, pp. 523-532
-
-
Dillon, M.J.1
-
21
-
-
0000570814
-
Deafness with sporadic goiter: Pendred syndrome
-
Batsakis JG, Nishiyama RH. Deafness with sporadic goiter: Pendred syndrome. Arch Otolaryng 1962;76:401-406
-
(1962)
Arch Otolaryng
, vol.76
, pp. 401-406
-
-
Batsakis, J.G.1
Nishiyama, R.H.2
-
22
-
-
0346154518
-
Association of congenital deafness with goiter (Pendred's syndrome): A study of 207 families
-
Fraser GR. Association of congenital deafness with goiter (Pendred's 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
-
24
-
-
0029039137
-
Identification of five novel inactivating mutations in the human thyroid peroxidase gene by denaturing gradient gel electrophoresis
-
Bikker H, Vulsma T, Baas F, de Vijlder JJ. Identification of five novel inactivating mutations in the human thyroid peroxidase gene by denaturing gradient gel electrophoresis. Hum Mutat 1995;6:9-16
-
(1995)
Hum Mutat
, vol.6
, pp. 9-16
-
-
Bikker, H.1
Vulsma, T.2
Baas, F.3
De Vijlder, J.J.4
-
25
-
-
0026474438
-
Identification of a mutation in the coding sequence of the human thyroid peroxidase gene causing congenital goiter
-
Abramowicz MJ, Targovnik HM, Varela V, et al. Identification of a mutation in the coding sequence of the human thyroid peroxidase gene causing congenital goiter. J Clin Invest 1992;90:1200-4
-
(1992)
J Clin Invest
, vol.90
, pp. 1200-1204
-
-
Abramowicz, M.J.1
Targovnik, H.M.2
Varela, V.3
-
26
-
-
9244254773
-
Thyroid peroxidase: Evidence for disease gene exclusion in Pendred's syndrome
-
Gausden E, Armour JA, Coyle B, et al. Thyroid peroxidase: evidence for disease gene exclusion in Pendred's syndrome. Clin Endocrinol (Oxf) 1996;44:441-6
-
(1996)
Clin Endocrinol (Oxf)
, vol.44
, pp. 441-446
-
-
Gausden, E.1
Armour, J.A.2
Coyle, B.3
-
27
-
-
0021970929
-
Neurological signs in congenital iodine-deficiency disorder (endemic cretinism)
-
DeLong GR, Stanbury JB, Fierro-Benitez R. Neurological signs in congenital iodine-deficiency disorder (endemic cretinism). Dev Med Child Neurol 1985;27:317-24
-
(1985)
Dev Med Child Neurol
, vol.27
, pp. 317-324
-
-
DeLong, G.R.1
Stanbury, J.B.2
Fierro-Benitez, R.3
-
30
-
-
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, et al. Progressive hearing loss, hypoplasia of the cochlea and widened vestibular aqueducts are very common features in Pendred's syndrome. International Journal Of Pediatric Otorhinolaryngology 1998;45:113-23
-
(1998)
International Journal of Pediatric Otorhinolaryngology
, vol.45
, pp. 113-123
-
-
Cremers, C.W.1
Admiraal, R.J.2
Huygen, P.L.3
-
31
-
-
0031894359
-
Radiological malformations of the ear in Pendred syndrome
-
Phelps PD, Coffey RA, Trembath RC, et al. Radiological malformations of the ear in Pendred syndrome. Clinical Radiology 1998;53:268-73
-
(1998)
Clinical Radiology
, vol.53
, pp. 268-273
-
-
Phelps, P.D.1
Coffey, R.A.2
Trembath, R.C.3
-
33
-
-
0036304675
-
Pendred's syndrome with goiter and enlarged vestibular aqueducts diagnosed by PDS gene mutation
-
Ishinaga H, Shimizu T, Yuta A, Tsukamoto K, Usami S, Majima Y. Pendred's syndrome with goiter and enlarged vestibular aqueducts diagnosed by PDS gene mutation. Head Neck 2002;24:710-3
-
(2002)
Head Neck
, vol.24
, pp. 710-713
-
-
Ishinaga, H.1
Shimizu, T.2
Yuta, A.3
Tsukamoto, K.4
Usami, S.5
Majima, Y.6
-
34
-
-
0037863794
-
Neuro-otological findings in Pendred syndrome
-
Luxon LM, Cohen M, Coffey RA, et al. Neuro-otological findings in Pendred syndrome. Int J Audiol 2003;42:82-8
-
(2003)
Int J Audiol
, vol.42
, pp. 82-88
-
-
Luxon, L.M.1
Cohen, M.2
Coffey, R.A.3
-
35
-
-
8244263673
-
Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4
-
Coyle B, Coffey R, Armour JA, et al. Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4. Nat Genet 1996;12:421-3
-
(1996)
Nat Genet
, vol.12
, pp. 421-423
-
-
Coyle, B.1
Coffey, R.2
Armour, J.A.3
-
36
-
-
0029963073
-
Pendred syndrome maps to chromosome 7q21-34 and is caused by an intrinsic defect in thyroid iodine Organisation
-
Sheffield VC, Kraiem Z, Beck JC, et al. Pendred syndrome maps to chromosome 7q21-34 and is caused by an intrinsic defect in thyroid iodine Organisation. Nat Genet 1996;12:424-6
-
(1996)
Nat Genet
, vol.12
, pp. 424-426
-
-
Sheffield, V.C.1
Kraiem, Z.2
Beck, J.C.3
-
37
-
-
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;17:411-22
-
(1997)
Nat Genet
, vol.17
, pp. 411-422
-
-
Everett, L.A.1
Glaser, B.2
Beck, J.C.3
-
38
-
-
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. Fluctuating sensorineural hearing loss associated with enlarged vestibular aqueduct maps to 7q31, the region containing the Pendred gene. American Journal Of Medical Genetics 1999;82:322-8
-
(1999)
American Journal of Medical Genetics
, 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
-
39
-
-
0034157691
-
Mutations of the Pendred syndrome gene (PDS) in patients with large vestibular aqueduct
-
Kitamura K, Takahashi K, Noguchi Y, et al. Mutations of the Pendred syndrome gene (PDS) in patients with large vestibular aqueduct. Acta Otolaryngol 2000;120:137-41
-
(2000)
Acta Otolaryngol
, vol.120
, pp. 137-141
-
-
Kitamura, K.1
Takahashi, K.2
Noguchi, Y.3
-
40
-
-
0036369151
-
Pendred syndrome redefined. Report of a new family with fluctuating and progressive hearing loss
-
Stinckens C, Huygen PL, Van Camp C, Cremers CW. Pendred syndrome redefined. Report of a new family with fluctuating and progressive hearing loss. Adv Otorhinolaryngol 2002;61:131-41
-
(2002)
Adv Otorhinolaryngol
, vol.61
, pp. 131-141
-
-
Stinckens, C.1
Huygen, P.L.2
Van Camp, C.3
Cremers, C.W.4
-
41
-
-
0035546135
-
Fluctuant, progressive hearing loss associated with Meniere like vertigo in three patients with the Pendred syndrome
-
Stinckens C, Huygen PL, Joosten FB, Van Camp C, 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;61:207-15
-
(2001)
Int J Pediatr Otorhinolaryngol
, vol.61
, pp. 207-215
-
-
Stinckens, C.1
Huygen, P.L.2
Joosten, F.B.3
Van Camp, C.4
Otten, B.5
Cremers, C.W.6
-
42
-
-
0032901865
-
The Pendred syndrome gene encodes a chloride-iodide transport protein
-
Scott DA, Wang R, Kreman TM, Sheffield VC, Karniski LP. The Pendred syndrome gene encodes a chloride-iodide transport protein. Nat Genet 1999;21:440-3
-
(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
-
43
-
-
0033306085
-
Sulfate transport is not impaired in Pendred syndrome thyrocytes
-
Kraiem Z, Heinrich R, Sadeh O, et al. Sulfate transport is not impaired in Pendred syndrome thyrocytes. J Clin Endocrinol Metab 1999;84:2574-6
-
(1999)
J Clin Endocrinol Metab
, vol.84
, pp. 2574-2576
-
-
Kraiem, Z.1
Heinrich, R.2
Sadeh, O.3
-
44
-
-
0036324859
-
Pendrin is an iodide-specific apical porter responsible for iodide efflux from thyroid cells
-
Yoshida A, Taniguchi S, Hisatome I, et al. Pendrin is an iodide-specific apical porter responsible for iodide efflux from thyroid cells. J Clin Endocrinol Metab 2002;87:3356-61
-
(2002)
J Clin Endocrinol Metab
, vol.87
, pp. 3356-3361
-
-
Yoshida, A.1
Taniguchi, S.2
Hisatome, I.3
-
45
-
-
0035957363
-
Pendrin, encoded by the Pendred syndrome gene, resides in the apical region of renal intercalated cells and mediates bicarbonate secretion
-
Royaux IE, Wall SM, Karniski LP, et al. 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;98:4221-6
-
(2001)
Proc Natl Acad Sci USA
, vol.98
, pp. 4221-4226
-
-
Royaux, I.E.1
Wall, S.M.2
Karniski, L.P.3
-
46
-
-
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. 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 U S A 1999;96:9727-32
-
(1999)
Proc Natl Acad Sci U S A
, vol.96
, pp. 9727-9732
-
-
Everett, L.A.1
Morsli, H.2
Wu, D.K.3
Green, E.D.4
-
47
-
-
0032011145
-
A mutation in PDS causes non-syndromic recessive deafness
-
Li XC, Everett LA, Lalwani AK, et al. A mutation in PDS causes non-syndromic recessive deafness. Nat Genet 1998;18:215-7
-
(1998)
Nat Genet
, vol.18
, pp. 215-217
-
-
Li, X.C.1
Everett, L.A.2
Lalwani, A.K.3
-
48
-
-
0033015606
-
Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations
-
Usami S, Abe S, Weston MD, Shinkawa H, Van Camp G, Kimberling WJ. Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations. Human Genetics 1999;104:188-92
-
(1999)
Human Genetics
, vol.104
, pp. 188-192
-
-
Usami, S.1
Abe, S.2
Weston, M.D.3
Shinkawa, H.4
Van Camp, G.5
Kimberling, W.J.6
-
49
-
-
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, et al. 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 2000;9:1709-15
-
(2000)
Hum Mol Genet
, vol.9
, pp. 1709-1715
-
-
Scott, D.A.1
Wang, R.2
Kreman, T.M.3
-
50
-
-
0036797830
-
Retention of pendrin in the endoplasmic reticulum is a major mechanism for Pendred syndrome
-
Rotman-Pikielny P, Hirschberg K, Maruvada P, et al. Retention of pendrin in the endoplasmic reticulum is a major mechanism for Pendred syndrome. Hum Mol Genet 2002;11:2625-33
-
(2002)
Hum Mol Genet
, vol.11
, pp. 2625-2633
-
-
Rotman-Pikielny, P.1
Hirschberg, K.2
Maruvada, P.3
-
51
-
-
0025242929
-
Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis
-
Cheng SH, Gregory RJ, Marshall J, et al. Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis. Cell 1990;63:827-34
-
(1990)
Cell
, vol.63
, pp. 827-834
-
-
Cheng, S.H.1
Gregory, R.J.2
Marshall, J.3
-
52
-
-
0032524048
-
Defective aquaporin-2 trafficking in nephrogenic diabetes insipidus and correction by chemical chaperones
-
Tamarappoo BK, Verkman AS. Defective aquaporin-2 trafficking in nephrogenic diabetes insipidus and correction by chemical chaperones. J Clin Invest 1998;101:2257-67
-
(1998)
J Clin Invest
, vol.101
, pp. 2257-2267
-
-
Tamarappoo, B.K.1
Verkman, A.S.2
-
53
-
-
0033575190
-
The C terminus of SUR1 is required for trafficking of KATP channels
-
Sharma N, Crane A, Clement Jt, et al. The C terminus of SUR1 is required for trafficking of KATP channels. J Biol Chem 1999;274:20628-32
-
(1999)
J Biol Chem
, vol.274
, pp. 20628-20632
-
-
Sharma, N.1
Crane, A.2
Clement, Jt.3
-
54
-
-
0033987133
-
Pendred syndrome: Phenotypic variability in two families carrying the same PDS missense mutation
-
Masmoudi S, Charfedine I, Hmani M, et al. Pendred syndrome: phenotypic variability in two families carrying the same PDS missense mutation. Am J Med Genet 2000;90:38-44
-
(2000)
Am J Med Genet
, vol.90
, pp. 38-44
-
-
Masmoudi, S.1
Charfedine, I.2
Hmani, M.3
-
55
-
-
0038368918
-
PDS is a new susceptibility gene to autoimmune thyroid diseases: Association and linkage study
-
Kacem HH, Rebai A, Kaffel N, Masmoudi S, Abid M, Ayadi H. PDS is a new susceptibility gene to autoimmune thyroid diseases: association and linkage study. J Clin Endocrinol Metab 2003;88:2274-80
-
(2003)
J Clin Endocrinol Metab
, vol.88
, pp. 2274-2280
-
-
Kacem, H.H.1
Rebai, A.2
Kaffel, N.3
Masmoudi, S.4
Abid, M.5
Ayadi, H.6
-
56
-
-
0035862723
-
Targeted disruption of mouse Pds provides insight about the inner-ear defects encountered in Pendred syndrome
-
Everett LA, Belyantseva IA, Noben-Trauth K, et al. Targeted disruption of mouse Pds provides insight about the inner-ear defects encountered in Pendred syndrome. Hum Mol Genet 2001;10:153-61
-
(2001)
Hum Mol Genet
, vol.10
, pp. 153-161
-
-
Everett, L.A.1
Belyantseva, I.A.2
Noben-Trauth, K.3
-
57
-
-
0036436278
-
Regulation of the expression of the Cl-/anion exchanger pendrin in mouse kidney by acid-base status
-
Wagner CA, Finberg KE, Stehberger PA, et al. Regulation of the expression of the Cl-/anion exchanger pendrin in mouse kidney by acid-base status. Kidney Int 2002;62:2109-17
-
(2002)
Kidney Int
, vol.62
, pp. 2109-2117
-
-
Wagner, C.A.1
Finberg, K.E.2
Stehberger, P.A.3
|