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Results: 1 to 20 of 156

1.

Mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism.

Pollak MR, Brown EM, Chou YH, Hebert SC, Marx SJ, Steinmann B, Levi T, Seidman CE, Seidman JG.

Cell. 1993 Dec 31;75(7):1297-303.

PMID:
7916660
[PubMed - indexed for MEDLINE]
2.

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, Hendy GN.

J Clin Invest. 1997 Apr 15;99(8):1917-25.

PMID:
9109436
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

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.

Am J Hum Genet. 1995 Apr;56(4):880-6.

PMID:
7717399
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Mutations in the human Ca(2+)-sensing-receptor gene that cause familial hypocalciuric hypercalcemia.

Chou YH, Pollak MR, Brandi ML, Toss G, Arnqvist H, Atkinson AB, Papapoulos SE, Marx S, Brown EM, Seidman JG, et al.

Am J Hum Genet. 1995 May;56(5):1075-9.

PMID:
7726161
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Cloning and functional characterization of extracellular Ca(2+)-sensing receptors from parathyroid and kidney.

Brown EM, Pollak M, Chou YH, Seidman CE, Seidman JG, Hebert SC.

Bone. 1995 Aug;17(2 Suppl):7S-11S. Review.

PMID:
8579901
[PubMed - indexed for MEDLINE]
6.

Impaired cotranslational processing of the calcium-sensing receptor due to signal peptide missense mutations in familial hypocalciuric hypercalcemia.

Pidasheva S, Canaff L, Simonds WF, Marx SJ, Hendy GN.

Hum Mol Genet. 2005 Jun 15;14(12):1679-90. Epub 2005 May 6.

PMID:
15879434
[PubMed - indexed for MEDLINE]
Free Article
7.

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.

Hum Mutat. 2000 Oct;16(4):281-96. Review.

PMID:
11013439
[PubMed - indexed for MEDLINE]
8.

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.

Hum Mutat. 2001 Nov;18(5):411-21.

PMID:
11668634
[PubMed - indexed for MEDLINE]
9.

Neonatal severe hyperparathyroidism, secondary hyperparathyroidism, and familial hypocalciuric hypercalcemia: multiple different phenotypes associated with an inactivating Alu insertion mutation of the calcium-sensing receptor gene.

Cole DE, Janicic N, Salisbury SR, Hendy GN.

Am J Med Genet. 1997 Aug 8;71(2):202-10. Erratum in: Am J Med Genet 1997 Oct 17;72(2):251-2.

PMID:
9217223
[PubMed - indexed for MEDLINE]
10.

Familial hypocalciuric hypercalcemia caused by an R648stop mutation in the calcium-sensing receptor gene.

Yamauchi M, Sugimoto T, Yamaguchi T, Yano S, Wang J, Bai M, Brown EM, Chihara K.

J Bone Miner Res. 2002 Dec;17(12):2174-82.

PMID:
12469911
[PubMed - indexed for MEDLINE]
11.

The cloning of extracellular Ca(2+)-sensing receptors from parathyroid and kidney: molecular mechanisms of extracellular Ca(2+)-sensing.

Brown EM, Pollak M, Chou YH, Seidman CE, Seidman JG, Hebert SC.

J Nutr. 1995 Jul;125(7 Suppl):1965S-1970S. Review.

PMID:
7602378
[PubMed - indexed for MEDLINE]
Free Article
12.

Sensing of extracellular Ca2+ by parathyroid and kidney cells: cloning and characterization of an extracellular Ca(2+)-sensing receptor.

Brown EM, Pollak M, Hebert SC.

Am J Kidney Dis. 1995 Mar;25(3):506-13. Review.

PMID:
7872334
[PubMed - indexed for MEDLINE]
13.

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, Lønborg Friis IM, Lillquist K, Brown EM, Gammeltoft S.

Scand J Clin Lab Invest. 2000 May;60(3):221-7.

PMID:
10885494
[PubMed - indexed for MEDLINE]
15.

Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism.

Pearce SH, Trump D, Wooding C, Besser GM, Chew SL, Grant DB, Heath DA, Hughes IA, Paterson CR, Whyte MP, et al.

J Clin Invest. 1995 Dec;96(6):2683-92.

PMID:
8675635
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

The pathophysiology of primary hyperparathyroidism.

Brown EM.

J Bone Miner Res. 2002 Nov;17 Suppl 2:N24-9. Review.

PMID:
12412774
[PubMed - indexed for MEDLINE]
17.

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.

Exp Clin Endocrinol Diabetes. 2005 Jan;113(1):31-4.

PMID:
15662592
[PubMed - indexed for MEDLINE]
18.

New mutation in the CASR gene in a family with familial hypocalciuric hypercalcemia (FHH) and neonatal severe hyperparathyroidism (NSHPT).

Rodrigues LS, Cáu AC, Bussmann LZ, Bastida G, Brunetto OH, Corrêa PH, Martin RM.

Arq Bras Endocrinol Metabol. 2011 Feb;55(1):67-71.

PMID:
21468522
[PubMed - indexed for MEDLINE]
Free Article
19.

Molecular biology and clinical importance of the Ca(2+)-sensing receptor.

De Luca F, Baron J.

Curr Opin Pediatr. 1998 Aug;10(4):435-40. Review.

PMID:
9757371
[PubMed - indexed for MEDLINE]
20.

Effect of the calcimimetic R-568 [3-(2-chlorophenyl)-N-((1R)-1-(3-methoxyphenyl)ethyl)-1-propanamine] on correcting inactivating mutations in the human calcium-sensing receptor.

Lu JY, Yang Y, Gnacadja G, Christopoulos A, Reagan JD.

J Pharmacol Exp Ther. 2009 Dec;331(3):775-86. doi: 10.1124/jpet.109.159228. Epub 2009 Sep 16.

PMID:
19759318
[PubMed - indexed for MEDLINE]
Free Article

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