-
1
-
-
15344345998
-
-
5th edn. Lippincot William & Wilkins, Philadelphia
-
Cochat P, Collard L (2004) Pediatric nephrology, 5th edn. Lippincot William & Wilkins, Philadelphia, pp 807-816
-
(2004)
Pediatric Nephrology
, pp. 807-816
-
-
Cochat, P.1
Collard, L.2
-
2
-
-
0036068625
-
Renal tubular acidosis: The clinical entity
-
Rodriguez-Soriano J (2002) Renal tubular acidosis: The clinical entity. J Am Soc Nephrol 13:2160-2170
-
(2002)
J Am Soc Nephrol
, vol.13
, pp. 2160-2170
-
-
Rodriguez-Soriano, J.1
-
3
-
-
0033516683
-
Paracellin-1, a renal tight junction protein required for paracellular Mg2+ resorption
-
Simon DB, Lu Y, Choate KA, Choate KA, Velazquez H, Al-Sabban E, Praga M, Casari G, Bettinelli A, Colussi G, Rodriguez-Soriano J, McCredie D, Milford D, Sanjad S, Lifton RP (1999) Paracellin-1, a renal tight junction protein required for paracellular Mg2+ resorption. Science 285:103-106
-
(1999)
Science
, vol.285
, pp. 103-106
-
-
Simon, D.B.1
Lu, Y.2
Choate, K.A.3
Choate, K.A.4
Velazquez, H.5
Al-Sabban, E.6
Praga, M.7
Casari, G.8
Bettinelli, A.9
Colussi, G.10
Rodriguez-Soriano, J.11
McCredie, D.12
Milford, D.13
Sanjad, S.14
Lifton, R.P.15
-
4
-
-
33751097262
-
Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement
-
Konrad M, Schaller A, Seelow D, Pandey AV, Waldegger S, Lesslauer A, Vitzthum H, Suzuki Y, Luk JM, Becker C, Schlingmann KP, Schmid M, Rodriguez-Soriano J, Ariceta G, Cano F, Enriquez R, Juppner H, Bakkaloglu SA, Hediger MA, Gallati S, Neuhauss SC, Nurnberg P, Weber S (2006) Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement. Am J Hum Genet 79:949-957
-
(2006)
Am J Hum Genet
, vol.79
, pp. 949-957
-
-
Konrad, M.1
Schaller, A.2
Seelow, D.3
Pandey, A.V.4
Waldegger, S.5
Lesslauer, A.6
Vitzthum, H.7
Suzuki, Y.8
Luk, J.M.9
Becker, C.10
Schlingmann, K.P.11
Schmid, M.12
Rodriguez-Soriano, J.13
Ariceta, G.14
Cano, F.15
Enriquez, R.16
Juppner, H.17
Bakkaloglu, S.A.18
Hediger, M.A.19
Gallati, S.20
Neuhauss, S.C.21
Nurnberg, P.22
Weber, S.23
more..
-
5
-
-
31544460435
-
Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3
-
Lorenz-Depiereux B, Benet-Pages A, Eckstein G, Tenenbaum-Rakover Y, Wagenstaller J, Tiosano D, Gershoni-Baruch R, Albers N, Lichtner P, Schnabel D, Hochberg Z, Strom TM (2006) Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3. Am J Hum Genet 78:193-201
-
(2006)
Am J Hum Genet
, vol.78
, pp. 193-201
-
-
Lorenz-Depiereux, B.1
Benet-Pages, A.2
Eckstein, G.3
Tenenbaum-Rakover, Y.4
Wagenstaller, J.5
Tiosano, D.6
Gershoni-Baruch, R.7
Albers, N.8
Lichtner, P.9
Schnabel, D.10
Hochberg, Z.11
Strom, T.M.12
-
6
-
-
31544481921
-
SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis
-
Bergwitz C, Roslin NM, Tieder M, Loredo-Osti JC, Bastepe M, Abu-Zahra H, Frappier D, Burkett K, Carpenter TO, Anderson D, Garabedian M, Sermet I, Fujiwara TM, Morgan K, Tenenhouse HS, Juppner H (2006) SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis. Am J Hum Genet 78:179-192
-
(2006)
Am J Hum Genet
, vol.78
, pp. 179-192
-
-
Bergwitz, C.1
Roslin, N.M.2
Tieder, M.3
Loredo-Osti, J.C.4
Bastepe, M.5
Abu-Zahra, H.6
Frappier, D.7
Burkett, K.8
Carpenter, T.O.9
Anderson, D.10
Garabedian, M.11
Sermet, I.12
Fujiwara, T.M.13
Morgan, K.14
Tenenhouse, H.S.15
Juppner, H.16
-
8
-
-
0034999377
-
Paracellin-1 is critical for magnesium and calcium reabsorption in the human thick ascending limb of Henle
-
Blanchard A, Jeunemaitre X, Coudol P, Dechaux M, Froissart M, May A, Demontis R, Fournier A, Paillard M, Houillier P (2001) Paracellin-1 is critical for magnesium and calcium reabsorption in the human thick ascending limb of Henle. Kidney Int 59:2206-2215
-
(2001)
Kidney Int
, vol.59
, pp. 2206-2215
-
-
Blanchard, A.1
Jeunemaitre, X.2
Coudol, P.3
Dechaux, M.4
Froissart, M.5
May, A.6
Demontis, R.7
Fournier, A.8
Paillard, M.9
Houillier, P.10
-
9
-
-
33646372973
-
Genetic investigation of autosomal recessive distal renal tubular acidosis: Evidence for early sensorineural hearing loss associated with mutations in the ATP6V0A4 gene
-
Vargas-Poussou R, Houillier P, Le Pottier N, Strompf L, Loirat C, Baudouin V, Macher MA, Déchaux M, Ulinski T, Nobili F, Eckart P, Novo R, Cailliez M, Salomon R, Nivet H, Cochat P, Tack I, Fargeot A, Bouissou F, Kesler GR, Lorotte S, Godefroid N, Layet V, Morin G, Jeunemaître X, Blanchard A (2006) Genetic investigation of autosomal recessive distal renal tubular acidosis: Evidence for early sensorineural hearing loss associated with mutations in the ATP6V0A4 gene. J Am Soc Nephrol 17:1437-1443
-
(2006)
J Am Soc Nephrol
, vol.17
, pp. 1437-1443
-
-
Vargas-Poussou, R.1
Houillier, P.2
Le Pottier, N.3
Strompf, L.4
Loirat, C.5
Baudouin, V.6
Macher, M.A.7
Déchaux, M.8
Ulinski, T.9
Nobili, F.10
Eckart, P.11
Novo, R.12
Cailliez, M.13
Salomon, R.14
Nivet, H.15
Cochat, P.16
Tack, I.17
Fargeot, A.18
Bouissou, F.19
Kesler, G.R.20
Lorotte, S.21
Godefroid, N.22
Layet, V.23
Morin, G.24
Jeunemaître, X.25
Blanchard, A.26
more..
-
10
-
-
0034863148
-
Novel paracellin-1 mutations in 25 families with familial hypomagnesemia with hypercalciuria and nephrocalcinosis
-
Weber S, Schneider L, Peters M, Misselwitz J, Rönnefarth G, Böswald M, Bonzel KE, Seeman T, Suláková T, Kuwertz-Bröking E, Gregoric A, Palcoux JB, Tasic V, Manz F, Schärer K, Seyberth HW, Konrad M (2001) Novel paracellin-1 mutations in 25 families with familial hypomagnesemia with hypercalciuria and nephrocalcinosis. J Am Soc Nephrol 12:1872-1881
-
(2001)
J Am Soc Nephrol
, vol.12
, pp. 1872-1881
-
-
Weber, S.1
Schneider, L.2
Peters, M.3
Misselwitz, J.4
Rönnefarth, G.5
Böswald, M.6
Bonzel, K.E.7
Seeman, T.8
Suláková, T.9
Kuwertz-Bröking, E.10
Gregoric, A.11
Palcoux, J.B.12
Tasic, V.13
Manz, F.14
Schärer, K.15
Seyberth, H.W.16
Konrad, M.17
-
11
-
-
33748776549
-
An unusual patient with hypercalciuria, recurrent nephrolithiasis, hypomagnesemia and G227R mutation of paracellin-1. An unusual patient with hypercalciuria and hypomagnesemia unresponsive to thiazide diuretics
-
Kutluturk F, Temel B, Uslu B, Aral F, Azezli A, Orhan Y, Konrad M, Ozbey N (2006) An unusual patient with hypercalciuria, recurrent nephrolithiasis, hypomagnesemia and G227R mutation of paracellin-1. An unusual patient with hypercalciuria and hypomagnesemia unresponsive to thiazide diuretics. Horm Res 66:175-181
-
(2006)
Horm Res
, vol.66
, pp. 175-181
-
-
Kutluturk, F.1
Temel, B.2
Uslu, B.3
Aral, F.4
Azezli, A.5
Orhan, Y.6
Konrad, M.7
Ozbey, N.8
-
12
-
-
0028361174
-
Pathophysiology of the renal acidification defect present in the syndrome of familial hypomagnesaemia-hypercalciuria
-
Rodriguez-Soriano J, Vallo A (1994) Pathophysiology of the renal acidification defect present in the syndrome of familial hypomagnesaemia-hypercalciuria. Pediatr Nephrol 8:431-435
-
(1994)
Pediatr Nephrol
, vol.8
, pp. 431-435
-
-
Rodriguez-Soriano, J.1
Vallo, A.2
-
13
-
-
0036956994
-
Follow-up of five patients with FHHNC due to mutations in the paracellin-1 gene
-
Wolf MT, Dotsch J, Konrad M, Boswald M, Rascher W (2002) Follow-up of five patients with FHHNC due to mutations in the paracellin-1 gene. Pediatr Nephrol 17:602-608
-
(2002)
Pediatr Nephrol
, vol.17
, pp. 602-608
-
-
Wolf, M.T.1
Dotsch, J.2
Konrad, M.3
Boswald, M.4
Rascher, W.5
-
14
-
-
33645526664
-
Disease-associated mutations affect intracellular traffic and paracellular Mg2+ transport function of claudin-16
-
Kausalya PJ, Amasheh S, Gunzel D, Wurps H, Müller D, Fromm M, Hunziker W (2006) Disease-associated mutations affect intracellular traffic and paracellular Mg2+ transport function of claudin-16. J Clin Invest 116:878-891
-
(2006)
J Clin Invest
, vol.116
, pp. 878-891
-
-
Kausalya, P.J.1
Amasheh, S.2
Gunzel, D.3
Wurps, H.4
Müller, D.5
Fromm, M.6
Hunziker, W.7
-
15
-
-
0029020519
-
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis
-
Praga M, Vara J, Gonzalez-Parra E, Andrés A, Alamo C, Araque A, Ortiz A, Rodicio JL (1995) Familial hypomagnesemia with hypercalciuria and nephrocalcinosis. Kidney Int 47:1419-1425
-
(1995)
Kidney Int
, vol.47
, pp. 1419-1425
-
-
Praga, M.1
Vara, J.2
Gonzalez-Parra, E.3
Andrés, A.4
Alamo, C.5
Araque, A.6
Ortiz, A.7
Rodicio, J.L.8
-
16
-
-
0034093572
-
Hypomagnesaemia-hypercalciuria-nephrocalcinosis: A report of nine cases and a review
-
Benigno V, Canonica CS, Bettinelli A, von Vigier RO, Truttmann AC, Bianchetti MG (2000) Hypomagnesaemia-hypercalciuria-nephrocalcinosis: A report of nine cases and a review. Nephrol Dial Transplant 15:605-610
-
(2000)
Nephrol Dial Transplant
, vol.15
, pp. 605-610
-
-
Benigno, V.1
Canonica, C.S.2
Bettinelli, A.3
von Vigier, R.O.4
Truttmann, A.C.5
Bianchetti, M.G.6
|