-
1
-
-
0028957547
-
Hypercalciuria and nephrocalcinosis in patients with idiopathic low molecular weight proteinuria in Japan: Is this identical to Dent's disease in the United Kingdom?
-
IGARASHI T, HAYAKAWA H, SHIRAGA H, KAWATO H, YAN K, KAWAGUCHI H, YAMANAKA T, THUCHIDA S, AKAGI K: Hypercalciuria and nephrocalcinosis in patients with idiopathic low molecular weight proteinuria in Japan: Is this identical to Dent's disease in the United Kingdom? Nephron 69:242-247, 1995
-
(1995)
Nephron
, vol.69
, pp. 242-247
-
-
Igarashi, T.1
Hayakawa, H.2
Shiraga, H.3
Kawato, H.4
Yan, K.5
Kawaguchi, H.6
Yamanaka, T.7
Thuchida, S.8
Akagi, K.9
-
2
-
-
0021808446
-
Asymptomatic low molecular weight proteinuria: A report on 5 cases
-
SUZUKI Y, OKADA T, HIGUCHI A, MASE D, KOBAYASHI O: Asymptomatic low molecular weight proteinuria: A report on 5 cases. Clin Nephrol 23:249-254, 1985
-
(1985)
Clin Nephrol
, vol.23
, pp. 249-254
-
-
Suzuki, Y.1
Okada, T.2
Higuchi, A.3
Mase, D.4
Kobayashi, O.5
-
3
-
-
0025101776
-
The clinical significance of asymptomatic low molecular weight proteinuria detected on routine screening of children in Japan: A survey of 53 patients
-
MURAKAMI T, KAWAKAMI H: The clinical significance of asymptomatic low molecular weight proteinuria detected on routine screening of children in Japan: A survey of 53 patients. Clin Nephrol 33:12-19, 1990
-
(1990)
Clin Nephrol
, vol.33
, pp. 12-19
-
-
Murakami, T.1
Kawakami, H.2
-
4
-
-
0013478351
-
Analysis of prognosis, renal histopathological findings and the hereditary basis of 17 patients with familial idiopathic low molecular weight proteinuria based on questionnaire
-
FURUSE A, HATTORI S, OKADE T: Analysis of prognosis, renal histopathological findings and the hereditary basis of 17 patients with familial idiopathic low molecular weight proteinuria based on questionnaire (in Japanese). Nihon Shounika Gakkaishi 96:2035-2042, 1992
-
(1992)
Nihon Shounika Gakkaishi
, vol.96
, pp. 2035-2042
-
-
Furuse, A.1
Hattori, S.2
Okade, T.3
-
5
-
-
0030907872
-
Idiopathic low molecular weight proteinuria associated with hypercalciuric nephrocalcinosis in Japanese children is due to mutations of the renal chloride channel (CLCN5)
-
LLOYD SE, PEARCE SHS, GÜNTHER W, KAWAGUCHI H, IGARASHI T, JENTSCH TJ, THAKKIER RV: Idiopathic low molecular weight proteinuria associated with hypercalciuric nephrocalcinosis in Japanese children is due to mutations of the renal chloride channel (CLCN5). J Clin Invest 99:967-974, 1997
-
(1997)
J Clin Invest
, vol.99
, pp. 967-974
-
-
Lloyd, S.E.1
Pearce, S.H.S.2
Günther, W.3
Kawaguchi, H.4
Igarashi, T.5
Jentsch, T.J.6
Thakkier, R.V.7
-
6
-
-
0028033777
-
Isolation and partial characterization of a chloride channel gene which is expressed in kidney and is a candidate for Dent's disease (an X-linked hereditary nephrolithiasis)
-
FISHER SE, BLACK GCM, LLOYD SE, HATCHWELL E, WRONG O, THAKKER RV, CRAIG IW: Isolation and partial characterization of a chloride channel gene which is expressed in kidney and is a candidate for Dent's disease (an X-linked hereditary nephrolithiasis). Hum Mol Genet 3:2053-2059, 1994
-
(1994)
Hum Mol Genet
, vol.3
, pp. 2053-2059
-
-
Fisher, S.E.1
Black, G.C.M.2
Lloyd, S.E.3
Hatchwell, E.4
Wrong, O.5
Thakker, R.V.6
Craig, I.W.7
-
7
-
-
0028788756
-
Cloning and characterization of CIC-5, the human kidney chloride channel gene implicated in Dent's disease (an X-linked hereditary nephrolithiasis)
-
FISHER SE, VAN BAKEL I, LLOYD SE, PEARCE SHS, THAKKER RV, CRAIG IW: Cloning and characterization of CIC-5, the human kidney chloride channel gene implicated in Dent's disease (an X-linked hereditary nephrolithiasis). Genomics 29:598-606, 1995
-
(1995)
Genomics
, vol.29
, pp. 598-606
-
-
Fisher, S.E.1
Van Bakel, I.2
Lloyd, S.E.3
Pearce, S.H.S.4
Thakker, R.V.5
Craig, I.W.6
-
8
-
-
0029183476
-
Properties of voltage-gated chloride channels of the CIC gene family
-
JENTSCH TJ, GÜNTHER W, PUSCH M, SCHWAPPACH B: Properties of voltage-gated chloride channels of the CIC gene family. J Physiol 482:19S-25S, 1995
-
(1995)
J Physiol
, vol.482
-
-
Jentsch, T.J.1
Günther, W.2
Pusch, M.3
Schwappach, B.4
-
9
-
-
0029589606
-
CIC-6 and CIC-7 are two novel broadly expressed members of the CLC chloride channel family
-
BRANDT S, JENTSCH TJ: CIC-6 and CIC-7 are two novel broadly expressed members of the CLC chloride channel family. FEBS Lett 377:15-20, 1995
-
(1995)
FEBS Lett
, vol.377
, pp. 15-20
-
-
Brandt, S.1
Jentsch, T.J.2
-
10
-
-
13344286321
-
A common molecular basis for three inherited kidney stone diseases
-
LLOYD SE, PEARCE SHS, FISHER SE, STEINMEYER K, SCHWAPPACH B, SCHEINMAN SJ, HARDING B, BOLINO A, DEVOTO M, GOODYER P, RIGDEN SPA, WRONG O, JENTSCH TJ, CRAIG IW, THAKKER RV: A common molecular basis for three inherited kidney stone diseases. Nature 379:445-449, 1996
-
(1996)
Nature
, vol.379
, pp. 445-449
-
-
Lloyd, S.E.1
Pearce, S.H.S.2
Fisher, S.E.3
Steinmeyer, K.4
Schwappach, B.5
Scheinman, S.J.6
Harding, B.7
Bolino, A.8
Devoto, M.9
Goodyer, P.10
Rigden, S.P.A.11
Wrong, O.12
Jentsch, T.J.13
Craig, I.W.14
Thakker, R.V.15
-
11
-
-
0029609597
-
Cloning and functional expression of rat CLC-5, a chloride channel linked to kidney disease
-
STEINMEYER K, SCHWAPPACH B, BENS M, VANDEWALLE A, JENTSCH TJ: Cloning and functional expression of rat CLC-5, a chloride channel linked to kidney disease. J Biol Chem 270:31172-31177, 1995
-
(1995)
J Biol Chem
, vol.270
, pp. 31172-31177
-
-
Steinmeyer, K.1
Schwappach, B.2
Bens, M.3
Vandewalle, A.4
Jentsch, T.J.5
-
12
-
-
0027716372
-
Dent's disease, a renal Fanconi syndrome with nephrocalcinosis and kidney stones is associated with a microdeletion involving DXS255 and maps to Xp11.22
-
POOK MA, WRONG O, WOODING C, NORDEN AGW, FEEST TG, THAKKER RV: Dent's disease, a renal Fanconi syndrome with nephrocalcinosis and kidney stones is associated with a microdeletion involving DXS255 and maps to Xp11.22. Hum Mol Genet 2:2129-2134, 1993
-
(1993)
Hum Mol Genet
, vol.2
, pp. 2129-2134
-
-
Pook, M.A.1
Wrong, O.2
Wooding, C.3
Norden, A.G.W.4
Feest, T.G.5
Thakker, R.V.6
-
13
-
-
0028038212
-
Dent's disease: A familial proximal renal tubular syndrome with low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, metabolic bone disease, progressive renal failure and a marked male predominance
-
WRONG OM, NORDEN AGW, FEEST TG: Dent's disease: a familial proximal renal tubular syndrome with low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, metabolic bone disease, progressive renal failure and a marked male predominance. Quart J Med 87:473-493, 1994
-
(1994)
Quart J Med
, vol.87
, pp. 473-493
-
-
Wrong, O.M.1
Norden, A.G.W.2
Feest, T.G.3
-
14
-
-
0025896089
-
X-linked recessive nephrolithiasis with renal failure
-
FRYMOYER PA, SCHEINMAN SJ, DUNHAM PB, JONES DB, HUEBER P, SCHROEDER ET: X-linked recessive nephrolithiasis with renal failure. N Engl J Med 325:681-686, 1991
-
(1991)
N Engl J Med
, vol.325
, pp. 681-686
-
-
Frymoyer, P.A.1
Scheinman, S.J.2
Dunham, P.B.3
Jones, D.B.4
Hueber, P.5
Schroeder, E.T.6
-
15
-
-
0027829385
-
Genetic mapping in the Xp11.2 region of a new form of X-linked hypophosphataemic rickets
-
BOLINO A, DEVOTO M, ENIA G, ZOCCALI C, WEISSENBACH J, ROMEO G: Genetic mapping in the Xp11.2 region of a new form of X-linked hypophosphataemic rickets. Eur J Hum Genet 1:269-279, 1993
-
(1993)
Eur J Hum Genet
, vol.1
, pp. 269-279
-
-
Bolino, A.1
Devoto, M.2
Enia, G.3
Zoccali, C.4
Weissenbach, J.5
Romeo, G.6
-
16
-
-
0027177179
-
Mapping the gene causing X-linked recessive nephrolithiasis to Xp11.22 by linkage studies
-
SCHEINMAN SJ, POOK MA, WOODING C, PANG JT, FRYMOYER PA, THAKKER RV: Mapping the gene causing X-linked recessive nephrolithiasis to Xp11.22 by linkage studies. J Clin Invest 91:2351-2357, 1993
-
(1993)
J Clin Invest
, vol.91
, pp. 2351-2357
-
-
Scheinman, S.J.1
Pook, M.A.2
Wooding, C.3
Pang, J.T.4
Frymoyer, P.A.5
Thakker, R.V.6
-
17
-
-
0028848215
-
Calcium-sensing receptor mutations in familial benign hypercalcaemia and neonatal hyperparathyroidism
-
PEARCE SHS, TRUMP D, WOODING C, BESSER GM, CHEW SL, GRANT DB, HEATH DA, HUGHES IA, PATERSON CR, WHYTE MP, THAKKER RV: Calcium-sensing receptor mutations in familial benign hypercalcaemia and neonatal hyperparathyroidism. J Clin Invest 96:2683-2692, 1995
-
(1995)
J Clin Invest
, vol.96
, pp. 2683-2692
-
-
Pearce, S.H.S.1
Trump, D.2
Wooding, C.3
Besser, G.M.4
Chew, S.L.5
Grant, D.B.6
Heath, D.A.7
Hughes, I.A.8
Paterson, C.R.9
Whyte, M.P.10
Thakker, R.V.11
-
18
-
-
10144256536
-
A familial syndrome of hypocalcaemia with hypercalciuria due to mutations in the calcium-sensing receptor
-
PEARCE SHS, WILLIAMSON C, KIFOR O, BAI M, COULTHARD MG, DAVIES M, LEWIS-BARNED N, MCCREDIE D, POWELL H, KHNDAHI-TAYLOR P, BROWN EM, THAKKER RV: A familial syndrome of hypocalcaemia with hypercalciuria due to mutations in the calcium-sensing receptor. N Engl J MEd 335:115-1122, 1996
-
(1996)
N Engl J MEd
, vol.335
, pp. 115-1122
-
-
Pearce, S.H.S.1
Williamson, C.2
Kifor, O.3
Bai, M.4
Coulthard, M.G.5
Davies, M.6
Lewis-Barned, N.7
Mccredie, D.8
Powell, H.9
Khndahi-Taylor, P.10
Brown, E.M.11
Thakker, R.V.12
-
19
-
-
0028924935
-
Gating of the voltage-dependent chloride channel CIC-0 by the permeant anion
-
PUSCH M, LUDEWIG U, REHFELDT A, JENTSCH TJ: Gating of the voltage-dependent chloride channel CIC-0 by the permeant anion. Nature 373:527-531, 1995
-
(1995)
Nature
, vol.373
, pp. 527-531
-
-
Pusch, M.1
Ludewig, U.2
Rehfeldt, A.3
Jentsch, T.J.4
-
20
-
-
8544254724
-
Characterisation of renal chloride channel. CLCN5, mutations in hypercalciuric nephrolithiasis (kidney stones) disorders
-
LLOYD SE, GÜNTHER W, PEARCE SHS, THOMSON A, BIANCHI ML, BOSIO M, CRAIG IW, FISHER SE, SCHEINMAN SJ, WRONG OM, JENISCH TJ, THAKKER RV: Characterisation of renal chloride channel. CLCN5, mutations in hypercalciuric nephrolithiasis (kidney stones) disorders. Hum Mol Genet 6:1233-1239
-
Hum Mol Genet
, vol.6
, pp. 1233-1239
-
-
Lloyd, S.E.1
Günther, W.2
Pearce, S.H.S.3
Thomson, A.4
Bianchi, M.L.5
Bosio, M.6
Craig, I.W.7
Fisher, S.E.8
Scheinman, S.J.9
Wrong, O.M.10
Jenisch, T.J.11
Thakker, R.V.12
-
21
-
-
0029015415
-
Characterisation of carrier females and affected males with X-linked recessive nephrolithiasis
-
REINHART SC, NORDEN AGW, LAPSLEY M, THAKKER RV, PANG J, MOSES AM, FRYMOYER PA, FAVUS MJ, HOEPNER JA, SCHEINMAN SJ: Characterisation of carrier females and affected males with X-linked recessive nephrolithiasis. J Am Soc Nephrol 5:1451-1461, 1995
-
(1995)
J Am Soc Nephrol
, vol.5
, pp. 1451-1461
-
-
Reinhart, S.C.1
Norden, A.G.W.2
Lapsley, M.3
Thakker, R.V.4
Pang, J.5
Moses, A.M.6
Frymoyer, P.A.7
Favus, M.J.8
Hoepner, J.A.9
Scheinman, S.J.10
-
23
-
-
0021366157
-
Restriction sites containing CpG show a higher frequency of polymorphism in human DNA
-
BARKER D, SCHAFER M, WHITE R: Restriction sites containing CpG show a higher frequency of polymorphism in human DNA. Cell 36:131-138, 1984
-
(1984)
Cell
, vol.36
, pp. 131-138
-
-
Barker, D.1
Schafer, M.2
White, R.3
-
24
-
-
0025740012
-
Structural and functional features of protein handling in the kidney proximal tubule
-
CHRISTENSEN E, NIELSEN S: Structural and functional features of protein handling in the kidney proximal tubule. Semin Nephrol 11:414-439, 1991
-
(1991)
Semin Nephrol
, vol.11
, pp. 414-439
-
-
Christensen, E.1
Nielsen, S.2
|