-
2
-
-
0030815949
-
Pendred syndrome: 100 years of underascertainment?
-
Reardon, W. et al. Pendred syndrome: 100 years of underascertainment? Q. J. Med. 90, 443-447 (1997).
-
(1997)
Q. J. Med.
, vol.90
, pp. 443-447
-
-
Reardon, W.1
-
3
-
-
0001681513
-
Goiter and profound congenital sensorineural hearing loss (Pendred syndrome)
-
Oxford University Press, New York
-
Gorlin, J.R., Toriello, H.V. & Cohen, M.M. Jr Goiter and profound congenital sensorineural hearing loss (Pendred syndrome). in Hereditary Hearing Loss and Its Syndromes 337-339 (Oxford University Press, New York, 1995).
-
(1995)
Hereditary Hearing Loss and Its Syndromes
, pp. 337-339
-
-
Gorlin, J.R.1
Toriello, H.V.2
Cohen M.M., Jr.3
-
4
-
-
0029963073
-
Pendred syndrome maps to chromosome 7q21 34 and is caused by an intrinsic defect in thyroid iodine organification
-
Sheffield, V.C. et al. Pendred syndrome maps to chromosome 7q21 34 and is caused by an intrinsic defect in thyroid iodine organification. Nature Genet. 12, 424-426 (1996).
-
(1996)
Nature Genet.
, vol.12
, pp. 424-426
-
-
Sheffield, V.C.1
-
5
-
-
8244263673
-
Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing non syndromic deafness gene DFNB4
-
Coyle, B. et al. Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing non syndromic deafness gene DFNB4. Nature Genet. 12, 421-423 (1996).
-
(1996)
Nature Genet.
, vol.12
, pp. 421-423
-
-
Coyle, B.1
-
6
-
-
16944366606
-
Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)
-
Everett, L.A. et al. Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). Nature Genet. 17, 411-422 (1997).
-
(1997)
Nature Genet.
, vol.17
, pp. 411-422
-
-
Everett, L.A.1
-
7
-
-
0027935348
-
Functional expression cloning of the canalicular sulfate transport system of rat hepatocytes
-
Bissig, M., Hagenbuch, B., Stieger, B., Koller, T. & Meier, P.J. Functional expression cloning of the canalicular sulfate transport system of rat hepatocytes. J. Biol. Chem. 269, 3017-3021 (1994).
-
(1994)
J. Biol. Chem.
, vol.269
, pp. 3017-3021
-
-
Bissig, M.1
Hagenbuch, B.2
Stieger, B.3
Koller, T.4
Meier, P.J.5
-
8
-
-
0027978110
-
The diastrophic dysplasia gene encodes a novel sulfate transporter: Positional cloning by fine-structure linkage disequilibrium mapping
-
Hastbacka, J. et al. The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping. Cell 78, 1073-1087 (1994).
-
(1994)
Cell
, vol.78
, pp. 1073-1087
-
-
Hastbacka, J.1
-
9
-
-
0028977983
-
The Down regulated in Adenoma (dra) gene product encodes an intestine-specific membrane sulfate transport protein
-
Silberg, D.G., Wang, W., Moseley, R.H. & Traber, P.G. The Down regulated in Adenoma (dra) gene product encodes an intestine-specific membrane sulfate transport protein. J. Biol. Chem. 270, 11897-11902 (1995).
-
(1995)
J. Biol. Chem.
, vol.270
, pp. 11897-11902
-
-
Silberg, D.G.1
Wang, W.2
Moseley, R.H.3
Traber, P.G.4
-
10
-
-
16144368521
-
Mutations of the Down-regulated in adenoma (DRA) gene cause congenital chloride diarrhoea
-
Hoglund, P. et al. Mutations of the Down-regulated in adenoma (DRA) gene cause congenital chloride diarrhoea. Nature Genet. 14, 316-319 (1996).
-
(1996)
Nature Genet.
, vol.14
, pp. 316-319
-
-
Hoglund, P.1
-
11
-
-
0024536228
-
The renal proximal tubule: A model for diversity of anion exchangers and stilbene-sensitive anion transporters
-
Aronson, P.S. The renal proximal tubule: A model for diversity of anion exchangers and stilbene-sensitive anion transporters. Annu. Rev. Physiol. 51, 419-441 (1989).
-
(1989)
Annu. Rev. Physiol.
, vol.51
, pp. 419-441
-
-
Aronson, P.S.1
-
12
-
-
0031843344
-
Immunolocalization of sat-1 sulfate/oxalate/bicarbonate anion exchanger in rat kidney
-
Karniski, L.P. et al. Immunolocalization of sat-1 sulfate/oxalate/bicarbonate anion exchanger in rat kidney. Am. J. Physiol. 275, F79-F87 (1998).
-
(1998)
Am. J. Physiol.
, vol.275
-
-
Karniski, L.P.1
-
13
-
-
0027288003
-
Iodide transport in the thyroid gland
-
Carrasco, N. Iodide transport in the thyroid gland. Biochim. Biophys. Acta. 1154, 65-82 (1993).
-
(1993)
Biochim. Biophys. Acta.
, vol.1154
, pp. 65-82
-
-
Carrasco, N.1
-
14
-
-
0030053759
-
Cloning and characterization of the thyroid iodide transporter
-
Dai, G., Levy O. & Carrasco, N. Cloning and characterization of the thyroid iodide transporter. Nature 379, 458-460 (1996).
-
(1996)
Nature
, vol.379
, pp. 458-460
-
-
Dai, G.1
Levy, O.2
Carrasco, N.3
-
15
-
-
0023541540
-
Anion exchange pathways for Cl transport in rabbit renal microvillus membranes
-
Karniski, L.P. & Aronson, P.S. Anion exchange pathways for Cl transport in rabbit renal microvillus membranes. Am. J. Physiol. 253, F513-F521 (1987).
-
(1987)
Am. J. Physiol.
, vol.253
-
-
Karniski, L.P.1
Aronson, P.S.2
-
18
-
-
0344528790
-
Downregulated in adenoma gene encodes a chloride transporter defective in congenital chloride diarrhea
-
Moseley, R.H. et al. Downregulated in adenoma gene encodes a chloride transporter defective in congenital chloride diarrhea. Am. J. Physiol. 276, G185-G192 (1999).
-
(1999)
Am. J. Physiol.
, vol.276
-
-
Moseley, R.H.1
-
19
-
-
0002245208
-
The association of deafness with thyroid dysfunction
-
Trotter, W.R. The association of deafness with thyroid dysfunction. Br. Med. Bull. 16, 92-98 (1960).
-
(1960)
Br. Med. Bull.
, vol.16
, pp. 92-98
-
-
Trotter, W.R.1
-
20
-
-
0015229743
-
Peroxidase deficiency in familial goiter with iodide organification defect
-
Hagen, G.A. et al. Peroxidase deficiency in familial goiter with iodide organification defect. N. Engl. J. Med. 285, 1394-1398 (1971).
-
(1971)
N. Engl. J. Med.
, vol.285
, pp. 1394-1398
-
-
Hagen, G.A.1
-
21
-
-
0026474438
-
Identification of a mutation in the coding sequence of the human thyroid peroxidase gene causing congenital goiter
-
Abramawicz, M.J. et al. Identification of a mutation in the coding sequence of the human thyroid peroxidase gene causing congenital goiter. J. Clin. Invest. 90, 1200-1204 (1992).
-
(1992)
J. Clin. Invest.
, vol.90
, pp. 1200-1204
-
-
Abramawicz, M.J.1
-
22
-
-
0022973560
-
Mondini cochlea in Pendred's syndrome. A histological study
-
Johnsen T., Jorgensen, M.B. & Johnsen, S. Mondini cochlea in Pendred's syndrome. A histological study. Acta Otolaryngol. 102, 239-247 (1986).
-
(1986)
Acta Otolaryngol.
, vol.102
, pp. 239-247
-
-
Johnsen, T.1
Jorgensen, M.B.2
Johnsen, S.3
-
23
-
-
0032011145
-
A mutation in PDS causes non-syndromic recessive deafness
-
Li, X.C. et dl. A mutation in PDS causes non-syndromic recessive deafness. Nature Genet. 18, 215-217 (1998).
-
(1998)
Nature Genet.
, vol.18
, pp. 215-217
-
-
Li, X.C.1
-
24
-
-
0026485457
-
+ channel determined by construction of multimeric cDNAs
-
+ channel determined by construction of multimeric cDNAs. Neuron 9, 861-871 (1992).
-
(1992)
Neuron
, vol.9
, pp. 861-871
-
-
Liman, E.R.1
Tytgat, J.2
Hess, P.3
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