-
1
-
-
31844449374
-
Stem cell engraftment at the endosteal niche is specified by the calcium-sensing receptor
-
Adams GB, Chabner KT, Alley IR, Olson DP, Szczepiorkowski ZM, Poznansky MC, Kos CH, Pollak MR, Brown EM, Scadden DT. Stem cell engraftment at the endosteal niche is specified by the calcium-sensing receptor. Nature 2006; 439: 599-603
-
(2006)
Nature
, vol.439
, pp. 599-603
-
-
Adams, G.B.1
Chabner, K.T.2
Alley, I.R.3
Olson, D.P.4
Szczepiorkowski, Z.M.5
Poznansky, M.C.6
Kos, C.H.7
Pollak, M.R.8
Brown, E.M.9
Scadden, D.T.10
-
2
-
-
0029142761
-
Familial hypocalciuric hypercalcemia associated with mutation in the human Ca(2+)-sensing receptor gene
-
Aida K, Koishi S, Inoue M, Nakazato M, Tawata M, Onaya T. Familial hypocalciuric hypercalcemia associated with mutation in the human Ca(2+)-sensing receptor gene. J Clin Endocrinol Metab 1995a; 80: 2594-2598
-
(1995)
J Clin Endocrinol Metab
, vol.80
, pp. 2594-2598
-
-
Aida, K.1
Koishi, S.2
Inoue, M.3
Nakazato, M.4
Tawata, M.5
Onaya, T.6
-
3
-
-
0029150178
-
Molecular cloning of a putative Ca(2+)-sensing receptor cDNA from human kidney
-
Aida K, Koishi S, Tawata M, Onaya T. Molecular cloning of a putative Ca(2+)-sensing receptor cDNA from human kidney. Biochem Biophys Res Commun 1995b; 214: 524-529
-
(1995)
Biochem Biophys Res Commun
, vol.214
, pp. 524-529
-
-
Aida, K.1
Koishi, S.2
Tawata, M.3
Onaya, T.4
-
5
-
-
0031027244
-
In vivo and in vitro characterization of neonatal hyperparathyroidism resulting from a de novo, heterozygous mutation in the Ca2+-sensing receptor gene: Normal maternal calcium homeostasis as a cause of secondary hyperparathyroidism in familial benign hypocalciuric hypercalcemia
-
Bai M, Pearce SHS, Kifor O, Trivedi S, Stauffer UG, Thakker RV, Brown EM, Steinmann B. In vivo and in vitro characterization of neonatal hyperparathyroidism resulting from a de novo, heterozygous mutation in the Ca2+-sensing receptor gene: Normal maternal calcium homeostasis as a cause of secondary hyperparathyroidism in familial benign hypocalciuric hypercalcemia. J Clin Invest 1997a; 99: 88-96
-
(1997)
J Clin Invest
, vol.99
, pp. 88-96
-
-
Bai, M.1
Pearce, S.H.S.2
Kifor, O.3
Trivedi, S.4
Stauffer, U.G.5
Thakker, R.V.6
Brown, E.M.7
Steinmann, B.8
-
6
-
-
0030949485
-
Markedly reduced activity of mutant calcium-sensing receptor with an inserted Alu element from a kindred with familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
-
Bai M, Janicic N, Trivedi S, Quinn SJ, Cole DE, Brown EM, Handy GN. Markedly reduced activity of mutant calcium-sensing receptor with an inserted Alu element from a kindred with familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. J Clin Invest 1997b; 99: 1917-1925
-
(1997)
J Clin Invest
, vol.99
, pp. 1917-1925
-
-
Bai, M.1
Janicic, N.2
Trivedi, S.3
Quinn, S.J.4
Cole, D.E.5
Brown, E.M.6
Handy, G.N.7
-
7
-
-
0029985394
-
Mutations in the Ca(2+)-sensing receptor gene cause autosomal dominant and sporadic hypoparathyroidism
-
Baron J, Winer KK, Yanovski JA, Cunningham AW, Laue L, Zimmermann D, Cutler GB. Mutations in the Ca(2+)-sensing receptor gene cause autosomal dominant and sporadic hypoparathyroidism. Hum Mol Genet 1996; 5: 601-606
-
(1996)
Hum Mol Genet
, vol.5
, pp. 601-606
-
-
Baron, J.1
Winer, K.K.2
Yanovski, J.A.3
Cunningham, A.W.4
Laue, L.5
Zimmermann, D.6
Cutler, G.B.7
-
8
-
-
11144353767
-
Cinacalcet for secondary hyperparathyroidism in patients receiving hemodialysis
-
Block G, Martin K, de Francisco A, Turner S, Avram M, Suranyi M, Hercz G, Cunningham J, Abu-Alfa A, Messa P, Coyne D, Locatelli F, Cohen R, Evenepoel P, Moe S, Fournier A, Braun J, McCary L, Zani V, Olson K, Drueke T, Goodman W. Cinacalcet for secondary hyperparathyroidism in patients receiving hemodialysis. N Engl J Med 2004; 350: 1516-1525
-
(2004)
N Engl J Med
, vol.350
, pp. 1516-1525
-
-
Block, G.1
Martin, K.2
De Francisco, A.3
Turner, S.4
Avram, M.5
Suranyi, M.6
Hercz, G.7
Cunningham, J.8
Abu-Alfa, A.9
Messa, P.10
Coyne, D.11
Locatelli, F.12
Cohen, R.13
Evenepoel, P.14
Moe, S.15
Fournier, A.16
Braun, J.17
McCary, L.18
Zani, V.19
Olson, K.20
Drueke, T.21
Goodman, W.22
more..
-
9
-
-
0015060986
-
Serum calcium survey for hyperparathyroidism
-
Boonstra CE, Jackson CE. Serum calcium survey for hyperparathyroidism. Am J Clin Pathol 1971; 55: 523-525
-
(1971)
Am J Clin Pathol
, vol.55
, pp. 523-525
-
-
Boonstra, C.E.1
Jackson, C.E.2
-
10
-
-
0035138842
-
Extracellular calcium-sensing and extracellular calcium signalling
-
Brown EM, Mclead RJ. Extracellular calcium-sensing and extracellular calcium signalling. Physiol Rev 2001; 81: 239-297
-
(2001)
Physiol Rev
, vol.81
, pp. 239-297
-
-
Brown, E.M.1
Mclead, R.J.2
-
11
-
-
14044254270
-
Mutant extracellular calcium-sensing receptors and severity of disease
-
Brown EM. Mutant extracellular calcium-sensing receptors and severity of disease. J Clin Endocrinol Metab 2005; 90: 1246-1248
-
(2005)
J Clin Endocrinol Metab
, vol.90
, pp. 1246-1248
-
-
Brown, E.M.1
-
12
-
-
0036962244
-
Parathyroid adenoma in a subject with familial hypocalciuric hypercalcemia: Coincidence or causality?
-
Burski K, Torjussen B, Paulsen AQ, Boman H, Bollerslev J. Parathyroid adenoma in a subject with familial hypocalciuric hypercalcemia: coincidence or causality? J Clin Endocrinol Metab 2002; 87: 1015-1016
-
(2002)
J Clin Endocrinol Metab
, vol.87
, pp. 1015-1016
-
-
Burski, K.1
Torjussen, B.2
Paulsen, A.Q.3
Boman, H.4
Bollerslev, J.5
-
13
-
-
33750359226
-
Mutation in the calcium-sensing receptor gene in autosomal dominant hypercalcemia with hypercalciuria
-
Catling T, Szabo E, Gustavsson P, Westin G, Hellman P, Akerstrom G, Dahl N, Rastad J. Mutation in the calcium-sensing receptor gene in autosomal dominant hypercalcemia with hypercalciuria. 80th Annual Meeting of The Endocrine Society, 1998
-
(1998)
80th Annual Meeting of the Endocrine Society
-
-
Catling, T.1
Szabo, E.2
Gustavsson, P.3
Westin, G.4
Hellman, P.5
Akerstrom, G.6
Dahl, N.7
Rastad, J.8
-
14
-
-
0037318868
-
Two Italian kindreds with familial hypocalciuric hypercalcaemia caused by loss-of-function mutations in the calcium-sensing receptor (CaR) gene: Functional characterization of a novel CaR missense mutation
-
Cetani F, Pardi E, Borsari S, Tonacchera M, Morabito E, Pinchera A, Marcocci C, Dipollina G. Two Italian kindreds with familial hypocalciuric hypercalcaemia caused by loss-of-function mutations in the calcium-sensing receptor (CaR) gene: functional characterization of a novel CaR missense mutation. Clin Endocrinol (Oxf) 2003; 58: 199-206 .
-
(2003)
Clin Endocrinol (Oxf)
, vol.58
, pp. 199-206
-
-
Cetani, F.1
Pardi, E.2
Borsari, S.3
Tonacchera, M.4
Morabito, E.5
Pinchera, A.6
Marcocci, C.7
Dipollina, G.8
-
15
-
-
0037656453
-
-
Erratum
-
Erratum in: Clin Endocrinol (Oxf) 2003; 58: 671
-
(2003)
Clin Endocrinol (Oxf)
, vol.58
, pp. 671
-
-
-
16
-
-
0032911696
-
An adult patient with severe hypercalcaemia and hypocalciuria due to a novel homzoygous inactivating mutation of calcium-sensing receptor
-
Chikatsu N, Fukumoto S, Suzawa M, Tanaka Y, Takeuchi Y, Takeda S, Tamura Y, Matsumoto T, Fujita T. An adult patient with severe hypercalcaemia and hypocalciuria due to a novel homzoygous inactivating mutation of calcium-sensing receptor. Clinical Endocrinology 1999; 50: 537-543
-
(1999)
Clinical Endocrinology
, vol.50
, pp. 537-543
-
-
Chikatsu, N.1
Fukumoto, S.2
Suzawa, M.3
Tanaka, Y.4
Takeuchi, Y.5
Takeda, S.6
Tamura, Y.7
Matsumoto, T.8
Fujita, T.9
-
17
-
-
0028988333
-
Mutations in the human Ca(2+)-sensing-receptor gene that cause familial hypocalciuric hypercalcemia
-
Chou YH, Pollak MR, Brandi ML, Toss G, Arnquist H, Atkinson AB, Papapoulos SE, Marx S, Brown EM, Seidman JG. Mutations in the human Ca(2+)-sensing-receptor gene that cause familial hypocalciuric hypercalcemia. Am J Hum Genet 1995; 56: 1075-1079
-
(1995)
Am J Hum Genet
, vol.56
, pp. 1075-1079
-
-
Chou, Y.H.1
Pollak, M.R.2
Brandi, M.L.3
Toss, G.4
Arnquist, H.5
Atkinson, A.B.6
Papapoulos, S.E.7
Marx, S.8
Brown, E.M.9
Seidman, J.G.10
-
18
-
-
0030744407
-
Neonatal severe hyperparathyroidism, secondary hyperparathyroidism, and familial hypocalciuric hypercalcemia: Multiple different phenotypes associated with an inactivation ALU insertion mutation of the calcium-sensing receptor gene
-
Cole DEC, Janicic N, Salisbury SR, Handy GN. Neonatal severe hyperparathyroidism, secondary hyperparathyroidism, and familial hypocalciuric hypercalcemia: multiple different phenotypes associated with an inactivation ALU insertion mutation of the calcium-sensing receptor gene. Am J Med Genet 1997; 71: 202-210
-
(1997)
Am J Med Genet
, vol.71
, pp. 202-210
-
-
Cole, D.E.C.1
Janicic, N.2
Salisbury, S.R.3
Handy, G.N.4
-
19
-
-
0033537347
-
A986S polymorphism of the calcium-sensing receptor and circulating calcium concentrations
-
Cole D, Peltekova V, Rubin L, Hawker G, Vieth R, Liew C, Hwang D, Evrovski J, Hendy G. A986S polymorphism of the calcium-sensing receptor and circulating calcium concentrations. Lancet 1998; 353: 112-115
-
(1998)
Lancet
, vol.353
, pp. 112-115
-
-
Cole, D.1
Peltekova, V.2
Rubin, L.3
Hawker, G.4
Vieth, R.5
Liew, C.6
Hwang, D.7
Evrovski, J.8
Hendy, G.9
-
20
-
-
0035718923
-
Association between total serum calcium and the A986S polymorphism of the calcium-sensing receptor gene
-
Cole D, Vieth R, Trang H, Wong B, Hendy G, Rubin L. Association between total serum calcium and the A986S polymorphism of the calcium-sensing receptor gene. Mol Gen Metab 2001; 72: 168-174
-
(2001)
Mol Gen Metab
, vol.72
, pp. 168-174
-
-
Cole, D.1
Vieth, R.2
Trang, H.3
Wong, B.4
Hendy, G.5
Rubin, L.6
-
22
-
-
0034520539
-
Three novel activating mutations in the calcium-sensing receptor responsible for autosomal dominant hypocalcemia
-
Conley YP, Finegold DN, Peters DG, Oppenheim JS, Ferrel RE. Three novel activating mutations in the calcium-sensing receptor responsible for autosomal dominant hypocalcemia. Molecular Genetics and Metabolism 2000; 71: 591-598
-
(2000)
Molecular Genetics and Metabolism
, vol.71
, pp. 591-598
-
-
Conley, Y.P.1
Finegold, D.N.2
Peters, D.G.3
Oppenheim, J.S.4
Ferrel, R.E.5
-
23
-
-
0030838449
-
Sporadic hypoparathyroidism caused by de novo gain-of-function mutations of the Ca2+-sensing receptor
-
De Luca F, Mancilla RK, Fan GF, Winer KK, Gore P, Spiegel AM, Baron J. Sporadic hypoparathyroidism caused by de novo gain-of-function mutations of the Ca2+-sensing receptor. J Clin Endocrinol Metab 1997; 82: 2710-2715
-
(1997)
J Clin Endocrinol Metab
, vol.82
, pp. 2710-2715
-
-
De Luca, F.1
Mancilla, R.K.2
Fan, G.F.3
Winer, K.K.4
Gore, P.5
Spiegel, A.M.6
Baron, J.7
-
24
-
-
33750330987
-
Normalization of serum calcium, phosphorus and magnesium with homeopathic PTH in a child with hypocalcemic hypercalciuria (HCHC) and a mutation of the calcium-sensing receptor gene
-
Dreimane D, Hendy G, Alon U, Geffner M. Normalization of Serum Calcium, Phosphorus and Magnesium with homeopathic PTH in a child with Hypocalcemic Hypercalciuria (HCHC) and a mutation of the Calcium-Sensing Receptor Gene. 83rd Annual Meeting of the Endocrine Society 2001
-
(2001)
83rd Annual Meeting of the Endocrine Society
-
-
Dreimane, D.1
Hendy, G.2
Alon, U.3
Geffner, M.4
-
25
-
-
0035163266
-
An acceptor splice site mutation in the calcium-sensing receptor (CASR) gene in familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
-
D'Souza-Li L, Canaff L, Janicic N, Cole DE, Hendy GN. An acceptor splice site mutation in the calcium-sensing receptor (CASR) gene in familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Hum Mutat 2001; 18: 411-421
-
(2001)
Hum Mutat
, vol.18
, pp. 411-421
-
-
D'Souza-Li, L.1
Canaff, L.2
Janicic, N.3
Cole, D.E.4
Hendy, G.N.5
-
26
-
-
0036959850
-
Identification and functional characterization of novel calcium-sensing receptor mutations in familial hypocalciuric hypercalcemia and autosomal dominant hypocalcemia
-
D'Souza-Li L, Yang B, Canaff L, Bai M, Hanley DA, Bastepe M, Salisbury SR, Brown EM, Cole DE, Hendy GN. Identification and functional characterization of novel calcium-sensing receptor mutations in familial hypocalciuric hypercalcemia and autosomal dominant hypocalcemia. J Clin Endocrinol Metab 2002; 87: 1309-1318
-
(2002)
J Clin Endocrinol Metab
, vol.87
, pp. 1309-1318
-
-
D'Souza-Li, L.1
Yang, B.2
Canaff, L.3
Bai, M.4
Hanley, D.A.5
Bastepe, M.6
Salisbury, S.R.7
Brown, E.M.8
Cole, D.E.9
Hendy, G.N.10
-
27
-
-
14644425308
-
Identification of a novel calcium-sensing receptor gene mutation causing familial hypocalciuric hypercalcemia by single-strand conformation polymorphism analysis
-
Felderbauer P, Hoffmann P, Klein W, Bulut K, Ansorge N, Epplen JT, Schmitz F, Schmidt WE. Identification of a novel calcium-sensing receptor gene mutation causing familial hypocalciuric hypercalcemia by single-strand conformation polymorphism analysis. Exp Clin Endocrinol Diabetes 2005; 113: 31-34
-
(2005)
Exp Clin Endocrinol Diabetes
, vol.113
, pp. 31-34
-
-
Felderbauer, P.1
Hoffmann, P.2
Klein, W.3
Bulut, K.4
Ansorge, N.5
Epplen, J.T.6
Schmitz, F.7
Schmidt, W.E.8
-
28
-
-
0035199744
-
Inactivating mutations of calcium-sensing receptor results in parathyroid lipohyperplasia
-
Fukumoto S, Chikatsu N, Okazaki R, Takeuchi Y, Tamura Y, Murakami T, Obara T, Fujita T. Inactivating mutations of calcium-sensing receptor results in parathyroid lipohyperplasia. Diagn Mol Pathol 2001; 10: 242-247
-
(2001)
Diagn Mol Pathol
, vol.10
, pp. 242-247
-
-
Fukumoto, S.1
Chikatsu, N.2
Okazaki, R.3
Takeuchi, Y.4
Tamura, Y.5
Murakami, T.6
Obara, T.7
Fujita, T.8
-
29
-
-
0036839828
-
Familial benign hypocalciuric hypercalcemia
-
Fuleihan GH. Familial benign hypocalciuric hypercalcemia. J Bone Miner Res 2002; 17: N51-56
-
(2002)
J Bone Miner Res
, vol.17
-
-
Fuleihan, G.H.1
-
30
-
-
33750370341
-
Novel mutations of the calcium-sensing receptor in familial hypocalciuric hypercalcemia and autosomal dominant hypocalcemia
-
Haag C, Schulze E, Lorenz A, Frank-Raue K, Raue F. Novel Mutations of the Calcium-Sensing Receptor in Familial Hypocalciuric Hypercalcemia and Autosomal Dominant Hypocalcemia, 87th Annual Meeting of The Endocrine Society, 2005
-
(2005)
87th Annual Meeting of the Endocrine Society
-
-
Haag, C.1
Schulze, E.2
Lorenz, A.3
Frank-Raue, K.4
Raue, F.5
-
31
-
-
0024422565
-
Familial benign (hypocalciuric) hypercalcemia. A troublesome mimic of hyperparathyroidism
-
Heath H III. Familial benign (hypocalciuric) hypercalcemia. A troublesome mimic of hyperparathyroidism. Endocrinol Metab Clin North Am 1989; 18: 723-740
-
(1989)
Endocrinol Metab Clin North Am
, vol.18
, pp. 723-740
-
-
Heath III, H.1
-
32
-
-
0027517161
-
Genetic linkage analysis in familial benign (hypocaliuric) hypercalcemia: Evidence for locus heterogeneity
-
Heath H III, Jackson CE, Otterud B, Leppert MF. Genetic linkage analysis in familial benign (hypocaliuric) hypercalcemia: evidence for locus heterogeneity. Am J Hum Genet 1993; 53: 193-200
-
(1993)
Am J Hum Genet
, vol.53
, pp. 193-200
-
-
Heath III, H.1
Jackson, C.E.2
Otterud, B.3
Leppert, M.F.4
-
33
-
-
9244231284
-
Clustered inactivating mutations and benign polymorphisms of the calcium receptor gene in familial benign hypocalciuric hypercalcemia suggest receptor functional domains
-
Heath H, Odelberg S, Jackson CE, Teh BT, Hayward N, Larsson C, Buist NR, Krapcho KJ, Hung BC, Capuano IV, Garrett JE, Leppert MF. Clustered inactivating mutations and benign polymorphisms of the calcium receptor gene in familial benign hypocalciuric hypercalcemia suggest receptor functional domains. J Clin Endocrinol Metab 1996; 81: 1312-1317
-
(1996)
J Clin Endocrinol Metab
, vol.81
, pp. 1312-1317
-
-
Heath, H.1
Odelberg, S.2
Jackson, C.E.3
Teh, B.T.4
Hayward, N.5
Larsson, C.6
Buist, N.R.7
Krapcho, K.J.8
Hung, B.C.9
Capuano, I.V.10
Garrett, J.E.11
Leppert, M.F.12
-
34
-
-
0033800097
-
Mutations of the calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia
-
Hendy GN, D'Souza-Li L, Yang B, Canaff L, Cole DE. Mutations of the calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia. Hum Mutat 2000; 16: 281-296
-
(2000)
Hum Mutat
, vol.16
, pp. 281-296
-
-
Hendy, G.N.1
D'Souza-Li, L.2
Yang, B.3
Canaff, L.4
Cole, D.E.5
-
35
-
-
0041382469
-
Recurrent familial hypocalcemia due to germline mosaicism for an activating mutation of the calcium-sensing receptor gene
-
Hendy GN, Minutti C, Canaff L, Pidasheva S, Yang B, Nouhi Z, Zimmerman D, Wei C, Cole DE. Recurrent familial hypocalcemia due to germline mosaicism for an activating mutation of the calcium-sensing receptor gene. J Clin Endocrinol Metab 2003; 88: 3674-3681
-
(2003)
J Clin Endocrinol Metab
, vol.88
, pp. 3674-3681
-
-
Hendy, G.N.1
Minutti, C.2
Canaff, L.3
Pidasheva, S.4
Yang, B.5
Nouhi, Z.6
Zimmerman, D.7
Wei, C.8
Cole, D.E.9
-
37
-
-
0035110928
-
A novel activating mutation (C129S) in the calcium-sensing receptor gene in a Japanese family with autosomal dominant hypocalcemia
-
Hirai H, Nakajima S, Miyauchi A, Nishimura K, Shimizu N, Shima M, Michigami T, Ozono K, Okada S. A novel activating mutation (C129S) in the calcium-sensing receptor gene in a Japanese family with autosomal dominant hypocalcemia. J Hum Genet 2001; 46: 41-44
-
(2001)
J Hum Genet
, vol.46
, pp. 41-44
-
-
Hirai, H.1
Nakajima, S.2
Miyauchi, A.3
Nishimura, K.4
Shimizu, N.5
Shima, M.6
Michigami, T.7
Ozono, K.8
Okada, S.9
-
38
-
-
0035992654
-
Autosomal dominant hypocalcemia caused by a novel mutation in the loop 2 region of the human calcium receptor extracellular domain
-
Hu J, Mora S, Colussi G, Proverbio MC, Jones KA, Bolzoni L, De Ferrari ME, Civati G, Spiegel AM. Autosomal dominant hypocalcemia caused by a novel mutation in the loop 2 region of the human calcium receptor extracellular domain. J Bone Miner Res 2002; 17: 1461-1469
-
(2002)
J Bone Miner Res
, vol.17
, pp. 1461-1469
-
-
Hu, J.1
Mora, S.2
Colussi, G.3
Proverbio, M.C.4
Jones, K.A.5
Bolzoni, L.6
De Ferrari, M.E.7
Civati, G.8
Spiegel, A.M.9
-
39
-
-
0042233567
-
2+- sensing receptor, implications for its structure and function
-
2+-sensing receptor, implications for its structure and function. Trends Endocrinol Metab 2003; 14: 282-288
-
(2003)
Trends Endocrinol Metab
, vol.14
, pp. 282-288
-
-
Hu, J.1
Spiegel, A.M.2
-
40
-
-
6344254775
-
Autosomal dominant hypocalcemia in monozygotic twins caused by a de novo germline mutation near the amino-terminus of the human calcium receptor
-
Hu J, Mora S, Weber G, Zamproni I, Proverbio MC, Spiegel AM. Autosomal dominant hypocalcemia in monozygotic twins caused by a de novo germline mutation near the amino-terminus of the human calcium receptor. J Bone Miner Res 2004; 19: 578-586
-
(2004)
J Bone Miner Res
, vol.19
, pp. 578-586
-
-
Hu, J.1
Mora, S.2
Weber, G.3
Zamproni, I.4
Proverbio, M.C.5
Spiegel, A.M.6
-
41
-
-
14244269537
-
A region in the seven-transmembrane domain of the human Ca2+ receptor critical for response to Ca2+
-
Hu J, McLarnon SJ, Mora S, Jiang J, Thomas C, Jacobson KA, Spiegel AM. A region in the seven-transmembrane domain of the human Ca2+ receptor critical for response to Ca2+. J Biol Chem 2005; 280: 5113-5120
-
(2005)
J Biol Chem
, vol.280
, pp. 5113-5120
-
-
Hu, J.1
McLarnon, S.J.2
Mora, S.3
Jiang, J.4
Thomas, C.5
Jacobson, K.A.6
Spiegel, A.M.7
-
42
-
-
4244198126
-
Successful treatment of hypoparathyroidism caused by a novel calcium-sensing receptor mutation with thiazide diuretics and low dose alfacalcidol
-
Inoue D, Saika M, Ikeda Y, Matsumoto T. Successful treatment of hypoparathyroidism caused by a novel calcium-sensing receptor mutation with thiazide diuretics and low dose alfacalcidol. Bone 1998; 23: 382
-
(1998)
Bone
, vol.23
, pp. 382
-
-
Inoue, D.1
Saika, M.2
Ikeda, Y.3
Matsumoto, T.4
-
43
-
-
0028940268
-
Insertion of an Alu sequence in the Ca(2+)-sensing receptor gene in familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
-
Janicic N, Pausova Z, Cole DE, Hendy GN. Insertion of an Alu sequence in the Ca(2+)-sensing receptor gene in familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Am J Hum Genet 1995; 56: 880-886
-
(1995)
Am J Hum Genet
, vol.56
, pp. 880-886
-
-
Janicic, N.1
Pausova, Z.2
Cole, D.E.3
Hendy, G.N.4
-
44
-
-
0035145606
-
A novel mutation in the calcium-sensing receptor gene in a Chinese subject with persistent hypercalcemia and hypocalciuria
-
Jap T, Wu Y, Jenq S, Won G. A novel mutation in the calcium-sensing receptor gene in a Chinese subject with persistent hypercalcemia and hypocalciuria. J Clin Endocrinol Metab 2001; 86: 13-15
-
(2001)
J Clin Endocrinol Metab
, vol.86
, pp. 13-15
-
-
Jap, T.1
Wu, Y.2
Jenq, S.3
Won, G.4
-
45
-
-
0037244847
-
A syndrome of hypocalciuric hypercalcemia caused by auto-antibodies directed at the calcium-sensing receptor
-
Kifor O, Moore FD, Delaney M, Garber J, Hendy GN, Butters RR, Gao P. Couter TL, Kifor I, Brown EM, Wysolmerki J. A syndrome of hypocalciuric hypercalcemia caused by auto-antibodies directed at the calcium-sensing receptor. J Clin Endocrinol Metab 2003; 88: 60-72
-
(2003)
J Clin Endocrinol Metab
, vol.88
, pp. 60-72
-
-
Kifor, O.1
Moore, F.D.2
Delaney, M.3
Garber, J.4
Hendy, G.N.5
Butters, R.R.6
Gao, P.7
Couter, T.L.8
Kifor, I.9
Brown, E.M.10
Wysolmerki, J.11
-
46
-
-
0030743057
-
Two novel missense mutations in calcium-sensing receptor gene associated with neonatal severe hyperparathyroidism
-
Kobayashi M, Tanaka H, Tsuzuki K, Tsuyuki M, Igaki H, Ichinose Y, Aya K, Nishioka N, Seino Y. Two novel missense mutations in calcium-sensing receptor gene associated with neonatal severe hyperparathyroidism. J Clin Endocrinol Metab 1997; 82: 2716-2719
-
(1997)
J Clin Endocrinol Metab
, vol.82
, pp. 2716-2719
-
-
Kobayashi, M.1
Tanaka, H.2
Tsuzuki, K.3
Tsuyuki, M.4
Igaki, H.5
Ichinose, Y.6
Aya, K.7
Nishioka, N.8
Seino, Y.9
-
47
-
-
0037222716
-
Recent advances in molecular genetics of hereditary magnesium-losing disorders
-
Konrad M, Weber S. Recent advances in molecular genetics of hereditary magnesium-losing disorders. J Am Soc Nephrol 2003; 14: 249-253
-
(2003)
J Am Soc Nephrol
, vol.14
, pp. 249-253
-
-
Konrad, M.1
Weber, S.2
-
48
-
-
24044521944
-
Novel missense mutation in the CASR gene in a Chinese family with familial hypocalciuric hypercalcemia
-
Lam CW, Lee KF, Chan AO, Poon PM, Law TY, Tong SF. Novel missense mutation in the CASR gene in a Chinese family with familial hypocalciuric hypercalcemia. Clin Chim Acta 2005; 360: 167-172
-
(2005)
Clin Chim Acta
, vol.360
, pp. 167-172
-
-
Lam, C.W.1
Lee, K.F.2
Chan, A.O.3
Poon, P.M.4
Law, T.Y.5
Tong, S.F.6
-
49
-
-
0021910184
-
Familial benign hypercalcemia (hypocalciuric hypercalcemia) - Clinical and pathogenetic studies in 21 families
-
Law WM Jr, Heath H III. Familial benign hypercalcemia (hypocalciuric hypercalcemia) - clinical and pathogenetic studies in 21 families. Ann Intern Med 1985; 102: 511-519
-
(1985)
Ann Intern Med
, vol.102
, pp. 511-519
-
-
Law Jr., W.M.1
Heath III, H.2
-
50
-
-
0030051024
-
Autoantibodies to the extracellular domain of the calcium sensing receptor in patients with acquired hypoparathyroidism
-
Li Y, Song YH, Rais N, Connar E, Schatz D, Mair A, Maclaren N. Autoantibodies to the extracellular domain of the calcium sensing receptor in patients with acquired hypoparathyroidism. J Clin Invest 1996; 97: 910-914
-
(1996)
J Clin Invest
, vol.97
, pp. 910-914
-
-
Li, Y.1
Song, Y.H.2
Rais, N.3
Connar, E.4
Schatz, D.5
Mair, A.6
Maclaren, N.7
-
51
-
-
17744364491
-
A large homozygous or heterozygous in-frame deletion within the calcium-sensing receptor's carboxylterminal cytoplasmic tail that causes autosomal dominant hypocalcemia
-
Lienhardt A, Garabedian M, Bai M, Sinding C, Zhang Z, Lagarde J, Boulesteix J, Rigaud M, Brown EM, Kottler M. A large homozygous or heterozygous in-frame deletion within the calcium-sensing receptor's carboxylterminal cytoplasmic tail that causes autosomal dominant hypocalcemia. J Clin Endocrinol Metab 2000; 85: 1695-1702
-
(2000)
J Clin Endocrinol Metab
, vol.85
, pp. 1695-1702
-
-
Lienhardt, A.1
Garabedian, M.2
Bai, M.3
Sinding, C.4
Zhang, Z.5
Lagarde, J.6
Boulesteix, J.7
Rigaud, M.8
Brown, E.M.9
Kottler, M.10
-
52
-
-
0035176619
-
Activating mutations of the calcium-sensing receptor: Management of hypocalcemia
-
Lienhardt A, Bai M, Lagarde JP, Rigaud M, Zhang Z, Jiang Y, Kottler ML, Brown EM, Garabedian M. Activating mutations of the calcium-sensing receptor: management of hypocalcemia. J Clin Endocrinol Metab 2001; 86: 5313-5323
-
(2001)
J Clin Endocrinol Metab
, vol.86
, pp. 5313-5323
-
-
Lienhardt, A.1
Bai, M.2
Lagarde, J.P.3
Rigaud, M.4
Zhang, Z.5
Jiang, Y.6
Kottler, M.L.7
Brown, E.M.8
Garabedian, M.9
-
53
-
-
0029934903
-
The Ca(2+)-sensing receptor gene (PCAR1) mutation T151 M in isolated autosomal dominant hypoparathyroidism
-
Lovlie R, Eiken HG, Sorheim JI, Boman H. The Ca(2+)-sensing receptor gene (PCAR1) mutation T151 M in isolated autosomal dominant hypoparathyroidism. Hum Genet 1996; 98: 129-133
-
(1996)
Hum Genet
, vol.98
, pp. 129-133
-
-
Lovlie, R.1
Eiken, H.G.2
Sorheim, J.I.3
Boman, H.4
-
55
-
-
33750317355
-
Hypercalcemia in a women with breast cancer misdiagnosed as hypercalcemia of malignancy: An unusual presentation of familial hypocalciuric hypercalcemia
-
Abstract SU 456
-
Marcocci C, Cetani F, Borsari B, Pardi E, Dipollina G, Ambrogini E, Cianferotti L, Viccica G, Pinchera A. Hypercalcemia in a Women with Breast Cancer Misdiagnosed as Hypercalcemia of Malignancy: An Unusual Presentation of Familial Hypocalciuric Hypercalcemia. ASBMR 25th Annual Meeting of the American Society for Bone and Mineral Research 2003, Abstract SU 456
-
(2003)
ASBMR 25th Annual Meeting of the American Society for Bone and Mineral Research
-
-
Marcocci, C.1
Cetani, F.2
Borsari, B.3
Pardi, E.4
Dipollina, G.5
Ambrogini, E.6
Cianferotti, L.7
Viccica, G.8
Pinchera, A.9
-
56
-
-
0019788427
-
The hypocalciuric or benign variant of familial hypercalcemia: Clinical and biochemical features in fifteen kindreds
-
Marx SJ, Attie MF, Levine MA, Spiegel AM, Downs RW, Lasker RD. The hypocalciuric or benign variant of familial hypercalcemia: clinical and biochemical features in fifteen kindreds. Medicine (Baltimore) 1981; 60: 397-412
-
(1981)
Medicine (Baltimore)
, vol.60
, pp. 397-412
-
-
Marx, S.J.1
Attie, M.F.2
Levine, M.A.3
Spiegel, A.M.4
Downs, R.W.5
Lasker, R.D.6
-
57
-
-
10844237961
-
Identification and functional analysis of a novel inactivating mutation (A804D) of the calcium-sensing receptor gene
-
Miyashiro K, Kasamatsu TS, Steinmetz L, de Menezes Filho HC, Damiani D, Setian N, Hauache OM. Identification and functional analysis of a novel inactivating mutation (A804D) of the calcium-sensing receptor gene. Clin Endocrinol (Oxf) 2004a; 61: 780-782
-
(2004)
Clin Endocrinol (Oxf)
, vol.61
, pp. 780-782
-
-
Miyashiro, K.1
Kasamatsu, T.S.2
Steinmetz, L.3
De Menezes Filho, H.C.4
Damiani, D.5
Setian, N.6
Hauache, O.M.7
-
58
-
-
10344223486
-
Severe hypercalcemia in a 9-year-old Brazilian girl due to a novel inactivating mutation of the calcium-sensing receptor
-
Miyashiro K, Kunii I, Manna TD, de Menezes Filho HC, Damiani D, Setian N, Hauache OM. Severe hypercalcemia in a 9-year-old Brazilian girl due to a novel inactivating mutation of the calcium-sensing receptor. J Clin Endocrinol Metab 2004b; 89: 5936-5941
-
(2004)
J Clin Endocrinol Metab
, vol.89
, pp. 5936-5941
-
-
Miyashiro, K.1
Kunii, I.2
Manna, T.D.3
De Menezes Filho, H.C.4
Damiani, D.5
Setian, N.6
Hauache, O.M.7
-
59
-
-
18444400225
-
A family of autosomal dominant hypocalcemia with a positive correlation between serum calcium and magnesium: Identification of a novel gain of function mutation (Ser[820]Phe) in the calcium-sensing receptor
-
Nagase T, Murakami T, Tsukada T, Kitamura R, Chikatsu N, Takeo H, Takata N, Yasuda H, Fukumoto S, Tanaka Y, Nagata N, Yamaguchi K, Akatsu T, Yamamoto M. A family of autosomal dominant hypocalcemia with a positive correlation between serum calcium and magnesium: identification of a novel gain of function mutation (Ser[820]Phe) in the calcium-sensing receptor. J Clin Endocrinol Metab 2002; 87: 2681-2687
-
(2002)
J Clin Endocrinol Metab
, vol.87
, pp. 2681-2687
-
-
Nagase, T.1
Murakami, T.2
Tsukada, T.3
Kitamura, R.4
Chikatsu, N.5
Takeo, H.6
Takata, N.7
Yasuda, H.8
Fukumoto, S.9
Tanaka, Y.10
Nagata, N.11
Yamaguchi, K.12
Akatsu, T.13
Yamamoto, M.14
-
60
-
-
17944366497
-
A novel mutation in Ca2+-sensing receptor gene in familial hypocalciuric hypercalcemia
-
Nakayama T, Minato M, Nakagawa M, Soma M, Tobe H, Aoi N, Kosuge K, Sato M, Ozawa Y, Kanmatsuse K, Kokubun S. A novel mutation in Ca2+-sensing receptor gene in familial hypocalciuric hypercalcemia. Endocrine 2001; 15: 277-282
-
(2001)
Endocrine
, vol.15
, pp. 277-282
-
-
Nakayama, T.1
Minato, M.2
Nakagawa, M.3
Soma, M.4
Tobe, H.5
Aoi, N.6
Kosuge, K.7
Sato, M.8
Ozawa, Y.9
Kanmatsuse, K.10
Kokubun, S.11
-
61
-
-
0032584086
-
Calcimimetics with potent and selective activity on the parathyroid calcium receptor
-
Nemeth EF, Steffey ME, Hammerland LG, Hung BC, van Wagenen BC, DelMar EG, Balandrin MF. Calcimimetics with potent and selective activity on the parathyroid calcium receptor. Proc Natl Acad Sci USA 1998; 95: 4040-4045
-
(1998)
Proc Natl Acad Sci USA
, vol.95
, pp. 4040-4045
-
-
Nemeth, E.F.1
Steffey, M.E.2
Hammerland, L.G.3
Hung, B.C.4
Van Wagenen, B.C.5
DelMar, E.G.6
Balandrin, M.F.7
-
62
-
-
0032906973
-
A novel activating mutation in calcium-sensing receptor gene associated with a family of autosomal dominant hypocalcemia
-
Okazaki R, Chikatsu N, Nakatsu M, Takeuchi Y, Ajima M, Miki J, Fujita T, Ara M, Totsuka Y, Tanaka K, Fukumoto S. A novel activating mutation in calcium-sensing receptor gene associated with a family of autosomal dominant hypocalcemia. J Clin Endocrinol Metab 1999; 84: 363-366
-
(1999)
J Clin Endocrinol Metab
, vol.84
, pp. 363-366
-
-
Okazaki, R.1
Chikatsu, N.2
Nakatsu, M.3
Takeuchi, Y.4
Ajima, M.5
Miki, J.6
Fujita, T.7
Ara, M.8
Totsuka, Y.9
Tanaka, K.10
Fukumoto, S.11
-
63
-
-
3242657067
-
Acquired hypocalciuric hypercalcemia due to autoantibodies against the calcium-sensing receptor
-
Pallais JC, Kifor O, Chen YB, Slovik D, Brown EM. Acquired hypocalciuric hypercalcemia due to autoantibodies against the calcium-sensing receptor. N Engl J Med 2004; 351: 362-369
-
(2004)
N Engl J Med
, vol.351
, pp. 362-369
-
-
Pallais, J.C.1
Kifor, O.2
Chen, Y.B.3
Slovik, D.4
Brown, E.M.5
-
64
-
-
0028848215
-
Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism
-
Pearce SHS, Trump D, Wooding C, Besser GM, Chew SL, Grant DB, Heath DA, Hughes IA, Paterson CR, Whyle MP, Thakker RV. Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism. J Clin Invest 1995; 96: 2683-2692
-
(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
Whyle, M.P.10
Thakker, R.V.11
-
65
-
-
10144256536
-
A familial syndrome of hypocalcemia 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, Kendall-Taylor P, Brown EM, Thakker RV. A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor. N Engl J Med 1996a; 335: 1115-1122
-
(1996)
N Engl J Med
, vol.335
, pp. 1115-1122
-
-
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
Kendall-Taylor, P.10
Brown, E.M.11
Thakker, R.V.12
-
66
-
-
0029967961
-
Functional characterization of calcium-sensing receptor mutations expressed in human embryonic kidney cells
-
Pearce SHS, Bai M, Quinn SJ, Kifor O, Brown EM, Thakker RV. Functional characterization of calcium-sensing receptor mutations expressed in human embryonic kidney cells. J Clin Invest 1996b; 98: 1860-1866
-
(1996)
J Clin Invest
, vol.98
, pp. 1860-1866
-
-
Pearce, S.H.S.1
Bai, M.2
Quinn, S.J.3
Kifor, O.4
Brown, E.M.5
Thakker, R.V.6
-
67
-
-
0030453451
-
Calcium-sensing receptor mutations in familial hypocalciuric hypercalcaemia with recurrent pancreatitis
-
Pearce SHS, Wooding C, Davies M, Tollefsen SE, Whyte MP, Thakker RV. Calcium-sensing receptor mutations in familial hypocalciuric hypercalcaemia with recurrent pancreatitis. Clin Endocrinol (Oxf) 1996c; 45: 675-680
-
(1996)
Clin Endocrinol (Oxf)
, vol.45
, pp. 675-680
-
-
Pearce, S.H.S.1
Wooding, C.2
Davies, M.3
Tollefsen, S.E.4
Whyte, M.P.5
Thakker, R.V.6
-
68
-
-
0035992823
-
Clinical disorders of extracellular calcium-sensing and the molecular biology of the calcium-sensing receptor
-
Pearce SHS. Clinical disorders of extracellular calcium-sensing and the molecular biology of the calcium-sensing receptor. Ann Med 2002; 34: 201-206
-
(2002)
Ann Med
, vol.34
, pp. 201-206
-
-
Pearce, S.H.S.1
-
69
-
-
0027787680
-
Mutations in the human Ca2+-sensing receptor gene causes familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
-
Pollak MR, Brown EM, Chou YH, Herbert SC, Marx SJ, Steinmann B, Levi T, Seidman CE, Seidman JG. Mutations in the human Ca2+-sensing receptor gene causes familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Cell 1993; 75: 1297-1303
-
(1993)
Cell
, vol.75
, pp. 1297-1303
-
-
Pollak, M.R.1
Brown, E.M.2
Chou, Y.H.3
Herbert, S.C.4
Marx, S.J.5
Steinmann, B.6
Levi, T.7
Seidman, C.E.8
Seidman, J.G.9
-
70
-
-
0028220464
-
Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Effects of mutant gene dosage on phenotype
-
Pollak MR, Chou YH, Marx SJ, Steinmann B, Cole DE, Brandi ML, Papapoulos SE, Menko FH, Hendy GN, Brown EM, Seidman CE, Seidman JG. Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Effects of mutant gene dosage on phenotype. J Clin Invest 1994a; 93: 1108-1112
-
(1994)
J Clin Invest
, vol.93
, pp. 1108-1112
-
-
Pollak, M.R.1
Chou, Y.H.2
Marx, S.J.3
Steinmann, B.4
Cole, D.E.5
Brandi, M.L.6
Papapoulos, S.E.7
Menko, F.H.8
Hendy, G.N.9
Brown, E.M.10
Seidman, C.E.11
Seidman, J.G.12
-
71
-
-
0028037143
-
Autosomal dominant hypocalcaemia caused by a Ca2+-sensing receptor gene mutation
-
Pollak MR, Brown EM, Estep HL, McLaine PN, Kifor O, Park J, Hebert SC, Seidman CE, Seidman JG. Autosomal dominant hypocalcaemia caused by a Ca2+-sensing receptor gene mutation. Nat Genet 1994b; 8: 303-307
-
(1994)
Nat Genet
, vol.8
, pp. 303-307
-
-
Pollak, M.R.1
Brown, E.M.2
Estep, H.L.3
McLaine, P.N.4
Kifor, O.5
Park, J.6
Hebert, S.C.7
Seidman, C.E.8
Seidman, J.G.9
-
72
-
-
33750287071
-
Neonatal primary hyperparathyroidism due to a new calcium sensing receptor mutation
-
Abstract P3-294
-
Rajguru M, Bedu A, Magdelaine C, Bai M, Aujuard Y, Lienhardt A. Neonatal primary hyperparathyroidism due to a new calcium sensing receptor mutation. Pediatric Academic Societies' 2001 Annual Meeting, Abstract P3-294
-
Pediatric Academic Societies' 2001 Annual Meeting
-
-
Rajguru, M.1
Bedu, A.2
Magdelaine, C.3
Bai, M.4
Aujuard, Y.5
Lienhardt, A.6
-
74
-
-
0006653282
-
Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism associated with mutations in the human Ca2+-sensing receptor gene in three Danish families
-
Schwarz P, Larsen NE, Lonborg Friis IM, Lillquist K, Brown EM, Gammeltoft S. Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism associated with mutations in the human Ca2+-sensing receptor gene in three Danish families. Scand J Clin Lab Invest 2000; 60: 221-227
-
(2000)
Scand J Clin Lab Invest
, vol.60
, pp. 221-227
-
-
Schwarz, P.1
Larsen, N.E.2
Lonborg Friis, I.M.3
Lillquist, K.4
Brown, E.M.5
Gammeltoft, S.6
-
75
-
-
8744247437
-
Blood ionized calcium is associated with clustered polymorphisms in the carboxyl-terminal tail of the calcium-sensing receptor
-
Scillitani A, Guarnirei V, de Geronimo S, Muscarella LA, Battista C, D'Agruma L, Bertoldo F, Florio C, Minisola S, Hendy G, Cole D. Blood ionized calcium is associated with clustered polymorphisms in the carboxyl-terminal tail of the calcium-sensing receptor. J Clin Endocrinol Metab 2004; 89: 5634-5638
-
(2004)
J Clin Endocrinol Metab
, vol.89
, pp. 5634-5638
-
-
Scillitani, A.1
Guarnirei, V.2
De Geronimo, S.3
Muscarella, L.A.4
Battista, C.5
D'Agruma, L.6
Bertoldo, F.7
Florio, C.8
Minisola, S.9
Hendy, G.10
Cole, D.11
-
76
-
-
1242351795
-
A novel gain-of-function mutation (F821 L) in the transmembrane domain of calcium-sensing receptor is a cause of severe sporadic hypoparathyroidism
-
Shiohara M, Mori T, Mei B, Brown EM, Watanabe T, Yasuda T. A novel gain-of-function mutation (F821 L) in the transmembrane domain of calcium-sensing receptor is a cause of severe sporadic hypoparathyroidism. Eur J Pediatr 2004; 163: 94-98
-
(2004)
Eur J Pediatr
, vol.163
, pp. 94-98
-
-
Shiohara, M.1
Mori, T.2
Mei, B.3
Brown, E.M.4
Watanabe, T.5
Yasuda, T.6
-
77
-
-
0028345282
-
Regulation of parathyroid hormone synthesis and secretion
-
Silver J, Naveh-Many T. Regulation of parathyroid hormone synthesis and secretion. Semin Nephrol 1994; 14: 175-194
-
(1994)
Semin Nephrol
, vol.14
, pp. 175-194
-
-
Silver, J.1
Naveh-Many, T.2
-
78
-
-
0030667380
-
Short-term inhibition of parathyroid hormone secretion by a calcium-receptor agonist in patients with primary hyperparathyroidism
-
Silverberg SJ, Bone HG III, Mariott TB, Locker FG, Thys-Jacobs S, Dziem G, Kaatz S, Sanguinetti EL, Bilezikian JP. Short-term inhibition of parathyroid hormone secretion by a calcium-receptor agonist in patients with primary hyperparathyroidism. N Engl J Med 1997; 337: 1506-1511
-
(1997)
N Engl J Med
, vol.337
, pp. 1506-1511
-
-
Silverberg, S.J.1
Bone III, H.G.2
Mariott, T.B.3
Locker, F.G.4
Thys-Jacobs, S.5
Dziem, G.6
Kaatz, S.7
Sanguinetti, E.L.8
Bilezikian, J.P.9
-
79
-
-
0036141731
-
Familial Isolated Hyperparathyroidism: Clinical and Genetic Characteristics of 36 Kindreds
-
Simonds WF, James-Newton LA, Agarwal SK, Yang BM, Skarulis MC, Hendy GN, Marx SJ. Familial Isolated Hyperparathyroidism: Clinical and Genetic Characteristics of 36 Kindreds. Medicine 2002; 81: 1-26
-
(2002)
Medicine
, vol.81
, pp. 1-26
-
-
Simonds, W.F.1
James-Newton, L.A.2
Agarwal, S.K.3
Yang, B.M.4
Skarulis, M.C.5
Hendy, G.N.6
Marx, S.J.7
-
80
-
-
0033305294
-
Autosomal dominant hypoparathyroidism associated with short stature and premature osteoarthritis
-
Stock JL, Brown RS, Baron J, Coderre JA, Mancilla E, De Luca F, Ray K, Mericq MV. Autosomal dominant hypoparathyroidism associated with short stature and premature osteoarthritis. J Clin Endocrinol Metab 1999; 84: 3036-3040
-
(1999)
J Clin Endocrinol Metab
, vol.84
, pp. 3036-3040
-
-
Stock, J.L.1
Brown, R.S.2
Baron, J.3
Coderre, J.A.4
Mancilla, E.5
De Luca, F.6
Ray, K.7
Mericq, M.V.8
-
81
-
-
0036269880
-
Lack of association between calcium-sensing receptor gene "A986S" polymorphism and bone mineral density in Hungarian postmenopausal women
-
Takacs I, Speer G, Bajnok E, Tabak A, Nagy Z, Horvath C, Kovacs K, Lakatos P. Lack of association between calcium-sensing receptor gene "A986S" polymorphism and bone mineral density in Hungarian postmenopausal women. Bone 2002; 30: 849-852
-
(2002)
Bone
, vol.30
, pp. 849-852
-
-
Takacs, I.1
Speer, G.2
Bajnok, E.3
Tabak, A.4
Nagy, Z.5
Horvath, C.6
Kovacs, K.7
Lakatos, P.8
-
82
-
-
1442277000
-
Diseases associated with the extracellular calcium-sensing receptor
-
Thakker RV. Diseases associated with the extracellular calcium-sensing receptor. Cell Calcium 2004; 35: 275-282
-
(2004)
Cell Calcium
, vol.35
, pp. 275-282
-
-
Thakker, R.V.1
-
83
-
-
0037323433
-
Autosomal dominant hypocalcaemia: A novel activating mutation (E604 K) in the cysteine-rich domain of the calcium-sensing receptor
-
Tan YM, Cardinal J, Franks AH, Mun HC, Lewis N, Harris LB, Prins JB, Conigrave AD. Autosomal dominant hypocalcaemia: a novel activating mutation (E604 K) in the cysteine-rich domain of the calcium-sensing receptor. J Clin Endocrinol Metab 2003; 88: 605-610
-
(2003)
J Clin Endocrinol Metab
, vol.88
, pp. 605-610
-
-
Tan, Y.M.1
Cardinal, J.2
Franks, A.H.3
Mun, H.C.4
Lewis, N.5
Harris, L.B.6
Prins, J.B.7
Conigrave, A.D.8
-
84
-
-
11844269243
-
A novel mutation (E767 K) in the second extracellular loop of the calcium sensing receptor in a family with autosomal dominant hypocalcemia
-
Uckun-Kitapci A, Underwood LE, Zhang J, Moats-Staats B. A novel mutation (E767 K) in the second extracellular loop of the calcium sensing receptor in a family with autosomal dominant hypocalcemia. Am J Med Genet 2005; 132: 125-129
-
(2005)
Am J Med Genet
, vol.132
, pp. 125-129
-
-
Uckun-Kitapci, A.1
Underwood, L.E.2
Zhang, J.3
Moats-Staats, B.4
-
85
-
-
0036707879
-
Functional characterization of a calcium-sensing receptor mutation in severe autosomal dominant hypocalcemia with a Bartter-like syndrome
-
Vargas-Poussou R, Huang C, Hulin P, Houillier P, Jeunemaître X, Paillard M, Planelles G, Dechaux M, Miller RT, Antignac C. Functional characterization of a calcium-sensing receptor mutation in severe autosomal dominant hypocalcemia with a Bartter-like syndrome. J Am Soc Nephrol 2002; 13: 2259-2266
-
(2002)
J Am Soc Nephrol
, vol.13
, pp. 2259-2266
-
-
Vargas-Poussou, R.1
Huang, C.2
Hulin, P.3
Houillier, P.4
Jeunemaître, X.5
Paillard, M.6
Planelles, G.7
Dechaux, M.8
Miller, R.T.9
Antignac, C.10
-
86
-
-
0033824635
-
A new missense mutation in the calcium-sensing receptor in familial benign hypercalcaemia associated with partial lipoatrophy and insulin resistant diabetes
-
Vigouroux C, Bourut C, Guerci B, Ziegler O, Magre J, Capeau J, Meyer L. A new missense mutation in the calcium-sensing receptor in familial benign hypercalcaemia associated with partial lipoatrophy and insulin resistant diabetes. Clin Endocrinol (Oxf) 2000; 53: 393-398
-
(2000)
Clin Endocrinol (Oxf)
, vol.53
, pp. 393-398
-
-
Vigouroux, C.1
Bourut, C.2
Guerci, B.3
Ziegler, O.4
Magre, J.5
Capeau, J.6
Meyer, L.7
-
87
-
-
5444235525
-
Neonatal severe hyperparathyroidism: Genotype/phenotype correlation and the use of pamidronate as rescue therapy
-
Waller S, Kurzawinski T, Spitz L, Thakker R, Cranston T, Pearce S, Cheetham T, van't Hoff WG. Neonatal severe hyperparathyroidism: genotype/phenotype correlation and the use of pamidronate as rescue therapy. Eur J Pediatr 2004; 163: 589-594
-
(2004)
Eur J Pediatr
, vol.163
, pp. 589-594
-
-
Waller, S.1
Kurzawinski, T.2
Spitz, L.3
Thakker, R.4
Cranston, T.5
Pearce, S.6
Cheetham, T.7
Van't Hoff, W.G.8
-
88
-
-
32944465965
-
A novel homozygous deletion in the calcium-sensing receptor ligand-binding domain associated with neonatal severe hyperparathyroidism
-
Ward BK, Cameron FJ, Magno AL, McDonnell CM, Stuckey BG, Ratajczak T. A novel homozygous deletion in the calcium-sensing receptor ligand-binding domain associated with neonatal severe hyperparathyroidism. J Pediatr Endocrinol Metab 2006; 19: 93-100
-
(2006)
J Pediatr Endocrinol Metab
, vol.19
, pp. 93-100
-
-
Ward, B.K.1
Cameron, F.J.2
Magno, A.L.3
McDonnell, C.M.4
Stuckey, B.G.5
Ratajczak, T.6
-
89
-
-
0030796382
-
A novel mutation (L174R) in the Ca2+-sensing receptor gene associated with familial hypocalciuric hypercalcemia
-
Ward BK, Stuckey BG, Gutteridge DH, Laing NG, Pullan PT, Ratajczak T. A novel mutation (L174R) in the Ca2+-sensing receptor gene associated with familial hypocalciuric hypercalcemia. Hum Mutat 1997; 10: 233-235
-
(1997)
Hum Mutat
, vol.10
, pp. 233-235
-
-
Ward, B.K.1
Stuckey, B.G.2
Gutteridge, D.H.3
Laing, N.G.4
Pullan, P.T.5
Ratajczak, T.6
-
90
-
-
4043064887
-
Functional deletion of the calcium-sensing receptor in a case of neonatal severe hyperparathyroidism
-
Ward BK, Magno AL, Davis EA, Hanyaloglu AC, Stuckey BG, Burrows M, Eidne KA, Charles AK, Ratajczak T. Functional deletion of the calcium-sensing receptor in a case of neonatal severe hyperparathyroidism. J Clin Endocrinol Metab 2004; 89: 3721-3730
-
(2004)
J Clin Endocrinol Metab
, vol.89
, pp. 3721-3730
-
-
Ward, B.K.1
Magno, A.L.2
Davis, E.A.3
Hanyaloglu, A.C.4
Stuckey, B.G.5
Burrows, M.6
Eidne, K.A.7
Charles, A.K.8
Ratajczak, T.9
-
91
-
-
12144288720
-
Genetic testing in familial isolated hyperparathyroidism: Unexpected results and their implications
-
Warner J, Epstein M, Sweet A, Singh D, Burgess J, Stranks S, Hill P, Perry-Keene D, Learoyd D, Robinson B, Birdsey P, Mackenzie E, Teh BT, Prins JB, Cardinal J. Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications. J Med Genet 2004; 41: 155-160
-
(2004)
J Med Genet
, vol.41
, pp. 155-160
-
-
Warner, J.1
Epstein, M.2
Sweet, A.3
Singh, D.4
Burgess, J.5
Stranks, S.6
Hill, P.7
Perry-Keene, D.8
Learoyd, D.9
Robinson, B.10
Birdsey, P.11
Mackenzie, E.12
Teh, B.T.13
Prins, J.B.14
Cardinal, J.15
-
92
-
-
0031727918
-
Familial hypoparathyroidism: Identification of a novel gain of function mutation in transmembrane domain 5 of the calcium-sensing receptor
-
Watanabe T, Bai M, Lane CR, Matsumoto S, Minamitani K, Minagawa M, Niimi H, Brown EM, Yasuda T. Familial hypoparathyroidism: Identification of a novel gain of function mutation in transmembrane domain 5 of the calcium-sensing receptor. J Clin Endocrinol Metab 1998; 83: 2497-2502
-
(1998)
J Clin Endocrinol Metab
, vol.83
, pp. 2497-2502
-
-
Watanabe, T.1
Bai, M.2
Lane, C.R.3
Matsumoto, S.4
Minamitani, K.5
Minagawa, M.6
Niimi, H.7
Brown, E.M.8
Yasuda, T.9
-
93
-
-
0037206034
-
Association between activating mutations of calcium-sensing receptor and Bartter's syndrome
-
Watanabe S, Fukumoto S, Chang H, Takeuchi Y, Hasegawa Y, Okazaki R, Chikatsu N, Fujita T. Association between activating mutations of calcium-sensing receptor and Bartter's syndrome. Lancet 2002; 360: 692-694
-
(2002)
Lancet
, vol.360
, pp. 692-694
-
-
Watanabe, S.1
Fukumoto, S.2
Chang, H.3
Takeuchi, Y.4
Hasegawa, Y.5
Okazaki, R.6
Chikatsu, N.7
Fujita, T.8
-
94
-
-
14044277029
-
Functional characterization of calcium-sensing receptor codon 227 mutations presenting as either familial (benign) hypocalcrin
-
Wystrychowski A, Pidasheva S, Canaff L, Chudek J, Kokot F, Wiecek A, Hendy GN. Functional characterization of calcium-sensing receptor codon 227 mutations presenting as either familial (benign) hypocalcrin. J Clin Endocrin Metab 2005; 90: 864-870
-
(2005)
J Clin Endocrin Metab
, vol.90
, pp. 864-870
-
-
Wystrychowski, A.1
Pidasheva, S.2
Canaff, L.3
Chudek, J.4
Kokot, F.5
Wiecek, A.6
Hendy, G.N.7
-
95
-
-
0034845674
-
Association of polymorphic alleles of the calcium-sensing receptor gene with the clinical severity of primary hyperparathyroidism
-
Yamauchi M, Sugimoto T, Yamaguchi T, Yano S, Kanzawa M, Kobayashi A, Chihara K. Association of polymorphic alleles of the calcium-sensing receptor gene with the clinical severity of primary hyperparathyroidism. Clin Endocrinol 2001; 55: 373-379
-
(2001)
Clin Endocrinol
, vol.55
, pp. 373-379
-
-
Yamauchi, M.1
Sugimoto, T.2
Yamaguchi, T.3
Yano, S.4
Kanzawa, M.5
Kobayashi, A.6
Chihara, K.7
-
96
-
-
0033848709
-
Association of polymorphic alleles of the calcium-sensing receptor gene with parathyroid hormone secretion in hemodialysis patients
-
Yano S, Sugimoto T, Kanzawa M, Tsukamoto T, Hattori T, Chihara K. Association of polymorphic alleles of the calcium-sensing receptor gene with parathyroid hormone secretion in hemodialysis patients. Nephron 2000; 85: 317-323
-
(2000)
Nephron
, vol.85
, pp. 317-323
-
-
Yano, S.1
Sugimoto, T.2
Kanzawa, M.3
Tsukamoto, T.4
Hattori, T.5
Chihara, K.6
-
97
-
-
0037326228
-
Calcium-sensing receptor gene A986S polymorphism and responsiveness to calcium supplementationin postmenopausal women
-
Young R, Wu F, Van de Water N, Ames R, Gamble G, Reid IR. Calcium-sensing receptor gene A986S polymorphism and responsiveness to calcium supplementationin postmenopausal women. J Clin Endonol Metab 2003; 88: 697-700
-
(2003)
J Clin Endonol Metab
, vol.88
, pp. 697-700
-
-
Young, R.1
Wu, F.2
Van De Water, N.3
Ames, R.4
Gamble, G.5
Reid, I.R.6
|