-
1
-
-
50849151835
-
Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis. A new syndrome
-
Bartter FC, Pronove P, Gill JR Jr et al. Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis. A new syndrome. Am J Med 1962; 33: 811-828
-
(1962)
Am J Med
, vol.33
, pp. 811-828
-
-
Bartter, F.C.1
Pronove, P.2
Gill Jr, J.R.3
-
3
-
-
0023588270
-
Role of prostaglandins in hyperprostaglandin E syndrome and in selected renal tubular disorders
-
Seyberth HW, Koniger SJ, Rascher W et al. Role of prostaglandins in hyperprostaglandin E syndrome and in selected renal tubular disorders. Pediatr Nephrol 1987; 1: 491-497
-
(1987)
Pediatr Nephrol
, vol.1
, pp. 491-497
-
-
Seyberth, H.W.1
Koniger, S.J.2
Rascher, W.3
-
4
-
-
0030954698
-
Bartter syndrome and its neonatal variant
-
Proesmans W.Bartter syndrome and its neonatal variant.Eur J Pediatr 1997; 156: 669-679
-
(1997)
Eur J Pediatr
, vol.156
, pp. 669-679
-
-
Proesmans, W.1
-
5
-
-
0024430121
-
Bartter's syndrome, nephrocalcinosis and renal insufficiency
-
Pierratos A, Couture RA, Hierlihy PJ et al. Bartter's syndrome, nephrocalcinosis and renal insufficiency. CMAJ 1989; 141: 1055- 1057
-
(1989)
CMAJ
, vol.141
, pp. 1055-1057
-
-
Pierratos, A.1
Couture, R.A.2
Hierlihy, P.J.3
-
6
-
-
0035408815
-
Hypokalemic salt-losing tubu-lopathy with chronic renal failure and sensorineural deafness
-
Jeck N, Reinalter SC, Henne T et al. Hypokalemic salt-losing tubu-lopathy with chronic renal failure and sensorineural deafness. Pediatrics 2001; 108: E5
-
(2001)
Pediatrics
, vol.108
-
-
Jeck, N.1
Reinalter, S.C.2
Henne, T.3
-
7
-
-
0028787681
-
Infantile variant of Bartter syndrome and sensorineural deafness: A new autosomal recessive disorder
-
Landau D, Shalev H, Ohaly M et al. Infantile variant of Bartter syndrome and sensorineural deafness: a new autosomal recessive disorder. Am J Med Genet 1995; 59: 454-459
-
(1995)
Am J Med Genet
, vol.59
, pp. 454-459
-
-
Landau, D.1
Shalev, H.2
Ohaly, M.3
-
8
-
-
0031779521
-
Bartter and related syndromes: The puzzle is almost solved
-
Rodriguez-Soriano J. Bartter and related syndromes: the puzzle is almost solved. Pediatr Nephrol 1998; 12: 315-327
-
(1998)
Pediatr Nephrol
, vol.12
, pp. 315-327
-
-
Rodriguez-Soriano, J.1
-
9
-
-
0030032699
-
Bartter's syndrome, hy-pokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2
-
Simon DB, Karet FE, Hamdan JM et al. Bartter's syndrome, hy-pokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2. Nat Genet 1996; 13: 183-188
-
(1996)
Nat Genet
, vol.13
, pp. 183-188
-
-
Simon, D.B.1
Karet, F.E.2
Hamdan, J.M.3
-
10
-
-
17344369929
-
Novel molecular variants of the Na-K-2Cl cotransporter gene are responsible for antenatal Bartter syndrome
-
Vargas-Poussou R, Feldmann D, Vollmer M et al. Novel molecular variants of the Na-K-2Cl cotransporter gene are responsible for antenatal Bartter syndrome. Am J Hum Genet 1998; 62: 1332-1340
-
(1998)
Am J Hum Genet
, vol.62
, pp. 1332-1340
-
-
Vargas-Poussou, R.1
Feldmann, D.2
Vollmer, M.3
-
11
-
-
0037498542
-
Mutations in the human Na-K-2Cl cotransporter (NKCC2) identified in Bartter syndrome type I consistently result in nonfunctional transporters
-
Starremans PG, Kersten FF, Knoers NV et al. Mutations in the human Na-K-2Cl cotransporter (NKCC2) identified in Bartter syndrome type I consistently result in nonfunctional transporters. J Am Soc Nephrol 2003; 14: 1419-1426
-
(2003)
J Am Soc Nephrol
, vol.14
, pp. 1419-1426
-
-
Starremans, P.G.1
Kersten, F.F.2
Knoers, N.V.3
-
12
-
-
0029794875
-
Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK
-
Simon DB, Karet FE, Rodriguez-Soriano J et al. Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK. Nat Genet 1996; 14: 152-156
-
(1996)
Nat Genet
, vol.14
, pp. 152-156
-
-
Simon, D.B.1
Karet, F.E.2
Rodriguez-Soriano, J.3
-
13
-
-
8044222737
-
International Collaborative Study Group for Bartter-like Syndromes. Mutations in the gene encoding the inwardly rectifying renal potassium channel, ROMK, cause the antenatal variant of Bartter syndrome: Evidence for genetic heterogeneity
-
Károlyi L, Konrad M, Köckerling A et al. International Collaborative Study Group for Bartter-like Syndromes. Mutations in the gene encoding the inwardly rectifying renal potassium channel, ROMK, cause the antenatal variant of Bartter syndrome: evidence for genetic heterogeneity. Hum Mol Genet 1997; 6: 17-26
-
(1997)
Hum Mol Genet
, vol.6
, pp. 17-26
-
-
Károlyi, L.1
Konrad, M.2
Köckerling, A.3
-
14
-
-
84912037651
-
Two novel mutations of the gene for Kir 1.1 (ROMK) in neonatal Bartter syndrome
-
Vollmer M, Koehrer M, Topaloglu R et al. Two novel mutations of the gene for Kir 1.1 (ROMK) in neonatal Bartter syndrome. Pediatr Nephrol 1998; 12: 69-71
-
(1998)
Pediatr Nephrol
, vol.12
, pp. 69-71
-
-
Vollmer, M.1
Koehrer, M.2
Topaloglu, R.3
-
15
-
-
16944366243
-
Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III
-
Simon DB, Bindra RS, Mansfield TA et al. Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III. Nat Genet 1997; 17: 171-178
-
(1997)
Nat Genet
, vol.17
, pp. 171-178
-
-
Simon, D.B.1
Bindra, R.S.2
Mansfield, T.A.3
-
16
-
-
0033914432
-
Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome
-
Konrad M, Vollmer M, Lemmink HH et al. Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome. J Am Soc Nephrol 2000; 11: 1449-1459
-
(2000)
J Am Soc Nephrol
, vol.11
, pp. 1449-1459
-
-
Konrad, M.1
Vollmer, M.2
Lemmink, H.H.3
-
17
-
-
0034047910
-
Antenatal Bartter syndrome with sensorineural deafness: Refinement of the locus on chromosome 1p31
-
Vollmer M, Jeck N, Lemmink HH et al. Antenatal Bartter syndrome with sensorineural deafness: refinement of the locus on chromosome 1p31. Nephrol Dial Transplant 2000; 15: 970-974
-
(2000)
Nephrol Dial Transplant
, vol.15
, pp. 970-974
-
-
Vollmer, M.1
Jeck, N.2
Lemmink, H.H.3
-
18
-
-
0035189356
-
Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure
-
Birkenhager R, Otto E, Schurmann MJ et al. Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure. Nat Genet 2001; 29: 310-314
-
(2001)
Nat Genet
, vol.29
, pp. 310-314
-
-
Birkenhager, R.1
Otto, E.2
Schurmann, M.J.3
-
19
-
-
0013976561
-
A new familial disorder characterized by hypokalemia and hypomagnesemia
-
Gitelman HJ, Graham JB, Welt LG. A new familial disorder characterized by hypokalemia and hypomagnesemia. Trans Assoc Am Physicians 1966; 79: 221-235
-
(1966)
Trans Assoc Am Physicians
, vol.79
, pp. 221-235
-
-
Gitelman, H.J.1
Graham, J.B.2
Welt, L.G.3
-
20
-
-
0026512508
-
Use of calcium excretion values to distinguish two forms of primary renal tubular hypokalemic alkalosis: Bartter and Gitelman syndromes
-
Bettinelli A, Bianchetti MG, Girardin E et al. Use of calcium excretion values to distinguish two forms of primary renal tubular hypokalemic alkalosis: Bartter and Gitelman syndromes. J Pediatr 1992; 120: 38-43
-
(1992)
J Pediatr
, vol.120
, pp. 38-43
-
-
Bettinelli, A.1
Bianchetti, M.G.2
Girardin, E.3
-
21
-
-
0033667558
-
Mutations in the chloride channel gene, CLCNKB, leading to a mixed Bartter-Gitelman phenotype
-
Jeck N, Konrad M, Peters M et al. Mutations in the chloride channel gene, CLCNKB, leading to a mixed Bartter-Gitelman phenotype. Pediatr Res 2000; 48: 754-758
-
(2000)
Pediatr Res
, vol.48
, pp. 754-758
-
-
Jeck, N.1
Konrad, M.2
Peters, M.3
-
22
-
-
0017195506
-
A simple estimate of glomerular filtration rate in children derived from body length and plasma creatinine
-
Schwartz GJ, Haycock GB, Edelmann CM Jr et al. A simple estimate of glomerular filtration rate in children derived from body length and plasma creatinine. Pediatrics 1976; 58: 259-263
-
(1976)
Pediatrics
, vol.58
, pp. 259-263
-
-
Schwartz, G.J.1
Haycock, G.B.2
Edelmann Jr, C.M.3
-
23
-
-
0021153681
-
A simple estimate of glomerular filtration rate in full-term infants during the first year of life
-
Schwartz GJ, Feld LG, Langford DJ. A simple estimate of glomerular filtration rate in full-term infants during the first year of life. J Pediatr 1984; 104: 849-854
-
(1984)
J Pediatr
, vol.104
, pp. 849-854
-
-
Schwartz, G.J.1
Feld, L.G.2
Langford, D.J.3
-
24
-
-
0003501907
-
-
Paris: Theraplix
-
Sempé M, Pédron G, Roy-Pernot M-P. Auxologie, Méthode et Séquences. Paris: Theraplix, 1979, 1-205
-
(1979)
Auxologie, Méthode et Séquences
, pp. 1-205
-
-
Sempé, M.1
Pédron, G.2
Roy-Pernot, M.-P.3
-
25
-
-
0030666144
-
Urinary phosphate/ creatinine, calcium/creatinine, and magnesium/creatinine ratios in a healthy pediatric population
-
Matos V, van Melle G, Boulat O et al. Urinary phosphate/ creatinine, calcium/creatinine, and magnesium/creatinine ratios in a healthy pediatric population. J Pediatr 1997; 131: 252-257
-
(1997)
J Pediatr
, vol.131
, pp. 252-257
-
-
Matos, V.1
van Melle, G.2
Boulat, O.3
-
26
-
-
0037082531
-
Clinical presentation of genetically defined patients with hypokalemic salt-losing tubulopathies
-
Peters M, Jeck N, Reinalter S et al. Clinical presentation of genetically defined patients with hypokalemic salt-losing tubulopathies. Am J Med 2002; 112: 183-190
-
(2002)
Am J Med
, vol.112
, pp. 183-190
-
-
Peters, M.1
Jeck, N.2
Reinalter, S.3
-
27
-
-
15544369758
-
Salt handling in the distal nephron: Lessons learned from inherited human disorders
-
Jeck N, Schlingmann K, Reinalter S et al. Salt handling in the distal nephron: lessons learned from inherited human disorders. Am J Physiol Regul Integr Comp Physiol 2005; 588: 782-795
-
(2005)
Am J Physiol Regul Integr Comp Physiol
, vol.588
, pp. 782-795
-
-
Jeck, N.1
Schlingmann, K.2
Reinalter, S.3
-
28
-
-
48249105113
-
Mouse model of type II Bartter's syndrome: I. Upregulation of thiazide-sensitive Na-Cl cotransport activity
-
Cantone A, Yang X, Yan Q et al. Mouse model of type II Bartter's syndrome: I. Upregulation of thiazide-sensitive Na-Cl cotransport activity. Am J Physiol Renal Physiol 2008; 294: F1366-F1372
-
(2008)
Am J Physiol Renal Physiol
, vol.294
-
-
Cantone, A.1
Yang, X.2
Yan, Q.3
-
29
-
-
48249105881
-
Mouse model of type II Bartters syndrome: II. Altered expression of renal sodium- and water-transporting proteins
-
Wagner CA, Loffing-Cueni D, Yan Q et al. Mouse model of type II Bartters syndrome: II. Altered expression of renal sodium- and water-transporting proteins. Am J Physiol Renal Physiol 2008; 294: F1373-F1380
-
(2008)
Am J Physiol Renal Physiol
, vol.294
-
-
Wagner, C.A.1
Loffing-Cueni, D.2
Yan, Q.3
-
30
-
-
33746488877
-
Pendrin regulationinmouse kidney primarily is chloride-dependent
-
Vallet M, Picard N, Loffing-Cueni D et al. Pendrin regulationinmouse kidney primarily is chloride-dependent. J Am Soc Nephrol 2006; 17: 2153-2163
-
(2006)
J Am Soc Nephrol
, vol.17
, pp. 2153-2163
-
-
Vallet, M.1
Picard, N.2
Loffing-Cueni, D.3
-
31
-
-
0034920817
-
Intrarenal and cellular localizationofCLC-K2 proteininthe mouse kidney
-
Kobayashi K, Uchida S, Mizutani S et al. Intrarenal and cellular localizationofCLC-K2 proteininthe mouse kidney. J Am Soc Nephrol 2001; 12: 1327-1334
-
(2001)
J Am Soc Nephrol
, vol.12
, pp. 1327-1334
-
-
Kobayashi, K.1
Uchida, S.2
Mizutani, S.3
-
32
-
-
33744801679
-
Similar chloride channels in the connecting tubule and cortical collecting duct of the mouse kidney
-
Nissant A, Paulais M, Lachheb S et al.Similar chloride channels in the connecting tubule and cortical collecting duct of the mouse kidney. Am J Physiol Renal Physiol 2006; 290: F1421-F1429
-
(2006)
Am J Physiol Renal Physiol
, vol.290
-
-
Nissant, A.1
Paulais, M.2
Lachheb, S.3
-
33
-
-
0035969520
-
Barttin is a Cl- channel betasubunit crucial for renal Cl- reabsorption and inner ear K+ secretion
-
Estevez R, Boettger T, Stein V et al. Barttin is a Cl- channel betasubunit crucial for renal Cl- reabsorption and inner ear K+ secretion. Nature 2001; 414: 558-561
-
(2001)
Nature
, vol.414
, pp. 558-561
-
-
Estevez, R.1
Boettger, T.2
Stein, V.3
-
34
-
-
0028832124
-
Localization and functional characterization of rat kidney-specific chloride channel, ClC-K1
-
Uchida S, Sasaki S, Nitta K et al. Localization and functional characterization of rat kidney-specific chloride channel, ClC-K1. J Clin Invest 1995; 95: 104-113
-
(1995)
J Clin Invest
, vol.95
, pp. 104-113
-
-
Uchida, S.1
Sasaki, S.2
Nitta, K.3
-
35
-
-
0029000690
-
Fetal pseudohypoaldosteronism: Another cause of hydramnios
-
Greenberg D, Abramson O, Phillip M. Fetal pseudohypoaldosteronism: another cause of hydramnios. Acta Paediatr 1995; 84: 582-584
-
(1995)
Acta Paediatr
, vol.84
, pp. 582-584
-
-
Greenberg, D.1
Abramson, O.2
Phillip, M.3
-
36
-
-
0037339228
-
Transient neonatal hyperkalemia in the antenatal (ROMK defective) Bartter syndrome
-
Finer G, Shalev H, Birk OS et al. Transient neonatal hyperkalemia in the antenatal (ROMK defective) Bartter syndrome. J Pediatr 2003; 142: 318-323
-
(2003)
J Pediatr
, vol.142
, pp. 318-323
-
-
Finer, G.1
Shalev, H.2
Birk, O.S.3
-
37
-
-
0028795461
-
Internal potassium shift in premature infants: Cause of nonoliguric hyperkalemia
-
Sato K, Kondo T, Iwao H et al. Internal potassium shift in premature infants: cause of nonoliguric hyperkalemia. J Pediatr 1995; 126: 109-113
-
(1995)
J Pediatr
, vol.126
, pp. 109-113
-
-
Sato, K.1
Kondo, T.2
Iwao, H.3
-
38
-
-
0042839701
-
The neonatal variant of Bartter syndrome and deafness: Preservation of renal function
-
Shalev H, Ohali M, Kachko L et al. The neonatal variant of Bartter syndrome and deafness: preservation of renal function. Pediatrics 2003; 112: 628-633
-
(2003)
Pediatrics
, vol.112
, pp. 628-633
-
-
Shalev, H.1
Ohali, M.2
Kachko, L.3
-
39
-
-
0034832453
-
Evaluation of long-term treatment with indomethacin in hereditary hypokalemic salt-losing tubulopathies
-
Reinalter SC, Grone HJ, Konrad M et al. Evaluation of long-term treatment with indomethacin in hereditary hypokalemic salt-losing tubulopathies. J Pediatr 2001; 139: 398-406
-
(2001)
J Pediatr
, vol.139
, pp. 398-406
-
-
Reinalter, S.C.1
Grone, H.J.2
Konrad, M.3
-
40
-
-
0035068501
-
Aldosterone as a mediator of progressive renal disease: Pathogenetic and clinical implications
-
Epstein M. Aldosterone as a mediator of progressive renal disease: pathogenetic and clinical implications. Am J Kidney Dis 2001; 37: 677-688
-
(2001)
Am J Kidney Dis
, vol.37
, pp. 677-688
-
-
Epstein, M.1
-
41
-
-
33748316445
-
The role of reninangiotensin-aldosterone system in the progression of chronic kidney disease
-
Remuzzi G, Perico N, Macia M, Ruggenenti P. The role of reninangiotensin-aldosterone system in the progression of chronic kidney disease. Kidney Int Suppl 2005; S57-S65
-
(2005)
Kidney Int Suppl
-
-
Remuzzi, G.1
Perico, N.2
Macia, M.3
Ruggenenti, P.4
-
42
-
-
21244472000
-
Long-term renal follow-upofextremely low birth weight infants
-
Rodriguez-Soriano J, Aguirre M, Oliveros R et al. Long-term renal follow-upofextremely low birth weight infants. Pediatr Nephrol 2005; 20: 579-584
-
(2005)
Pediatr Nephrol
, vol.20
, pp. 579-584
-
-
Rodriguez-Soriano, J.1
Aguirre, M.2
Oliveros, R.3
-
43
-
-
38149131097
-
Low birth weight increases risk for end-stage renal disease
-
Vikse BE, Irgens LM, Leivestad T et al. Low birth weight increases risk for end-stage renal disease. J Am Soc Nephrol 2008; 19: 151-157
-
(2008)
J Am Soc Nephrol
, vol.19
, pp. 151-157
-
-
Vikse, B.E.1
Irgens, L.M.2
Leivestad, T.3
-
44
-
-
0035046867
-
Functional heterogeneity of ROMK mutations linked to hyperprostaglandin E syndrome
-
Jeck N, Derst C, Wischmeyer E et al. Functional heterogeneity of ROMK mutations linked to hyperprostaglandin E syndrome. Kidney Int 2001; 59: 1803-1811
-
(2001)
Kidney Int
, vol.59
, pp. 1803-1811
-
-
Jeck, N.1
Derst, C.2
Wischmeyer, E.3
-
45
-
-
12444274303
-
Classification and rescue of ROMK mutations underlying hyperprostaglandin E syndrome/antenatal Bartter syndrome
-
Peters M, Ermert S, Jeck N et al. Classification and rescue of ROMK mutations underlying hyperprostaglandin E syndrome/antenatal Bartter syndrome. Kidney Int 2003; 64: 923-932
-
(2003)
Kidney Int
, vol.64
, pp. 923-932
-
-
Peters, M.1
Ermert, S.2
Jeck, N.3
-
46
-
-
0031584084
-
Mutations in the ROMK gene in antenatal Bartter syndrome are associated with impaired K+ channel function
-
Derst C, Konrad M, Kockerling A et al. Mutations in the ROMK gene in antenatal Bartter syndrome are associated with impaired K+ channel function. Biochem Biophys Res Commun 1997; 230: 641-645
-
(1997)
Biochem Biophys Res Commun
, vol.230
, pp. 641-645
-
-
Derst, C.1
Konrad, M.2
Kockerling, A.3
-
47
-
-
0037326120
-
Atypical Bartter syndrome with sensorineural deafness with G47R mutation of the betasubunit for ClC-Ka and ClC-Kb chloride channels, barttin
-
Miyamura N, Matsumoto K, Taguchi T et al. Atypical Bartter syndrome with sensorineural deafness with G47R mutation of the betasubunit for ClC-Ka and ClC-Kb chloride channels, barttin. J Clin Endocrinol Metab 2003; 88: 781-786
-
(2003)
J Clin Endocrinol Metab
, vol.88
, pp. 781-786
-
-
Miyamura, N.1
Matsumoto, K.2
Taguchi, T.3
|