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Results: 1 to 20 of 252

1.

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]
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.

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.

Clin Endocrinol (Oxf). 2003 Feb;58(2):199-206. Erratum in: Clin Endocrinol (Oxf). 2003 May;58(5):671.

PMID:
12580936
[PubMed - indexed for MEDLINE]
5.

A patient with primary hyperparathyroidism associated with familial hypocalciuric hypercalcemia induced by a novel germline CaSR gene mutation.

Yabuta T, Miyauchi A, Inoue H, Yoshida H, Hirokawa M, Amino N.

Asian J Surg. 2009 Apr;32(2):118-22. doi: 10.1016/S1015-9584(09)60022-1.

PMID:
19423460
[PubMed - indexed for MEDLINE]
6.

The effect of calcium-sensing receptor gene polymorphisms on serum calcium levels: a familial hypocalciuric hypercalcemia family without mutation in the calcium-sensing receptor gene.

Kanazawa H, Tanaka H, Kodama S, Moriwake A, Kobayashi M, Seino Y.

Endocr J. 2000 Feb;47(1):29-35.

PMID:
10811290
[PubMed - indexed for MEDLINE]
Free Article
7.

A syndrome of hypocalciuric hypercalcemia caused by autoantibodies directed at the calcium-sensing receptor.

Kifor O, Moore FD Jr, Delaney M, Garber J, Hendy GN, Butters R, Gao P, Cantor TL, Kifor I, Brown EM, Wysolmerski J.

J Clin Endocrinol Metab. 2003 Jan;88(1):60-72.

PMID:
12519831
[PubMed - indexed for MEDLINE]
8.

An adult patient with severe hypercalcaemia and hypocalciuria due to a novel homozygous inactivating mutation of calcium-sensing receptor.

Chikatsu N, Fukumoto S, Suzawa M, Tanaka Y, Takeuchi Y, Takeda S, Tamura Y, Matsumoto T, Fujita T.

Clin Endocrinol (Oxf). 1999 Apr;50(4):537-43.

PMID:
10468915
[PubMed - indexed for MEDLINE]
9.

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.

J Clin Endocrinol Metab. 2002 Jun;87(6):2681-7.

PMID:
12050233
[PubMed - indexed for MEDLINE]
10.

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.

Diagn Mol Pathol. 2001 Dec;10(4):242-7.

PMID:
11763315
[PubMed - indexed for MEDLINE]
11.

Identification and functional analysis of novel calcium-sensing receptor gene mutation in familial hypocalciuric hypercalcemia.

Nanjo K, Nagai S, Shimizu C, Tajima T, Kondo T, Miyoshi H, Yoshioka N, Koike T.

Endocr J. 2010;57(9):787-92. Epub 2010 Aug 6.

PMID:
20697181
[PubMed - indexed for MEDLINE]
Free Article
12.

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
13.

Novel mutations in the calcium-sensing receptor gene associated with biochemical and functional differences in familial hypocalciuric hypercalcaemia.

Ward BK, Magno AL, Blitvich BJ, Rea AJ, Stuckey BG, Walsh JP, Ratajczak T.

Clin Endocrinol (Oxf). 2006 May;64(5):580-7.

PMID:
16649980
[PubMed - indexed for MEDLINE]
14.

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]
15.

Marked hypercalcemia in a patient with hypocalciuric hypercalcemia without a mutation in the calcium-sensing receptor gene.

Hanibuchi N, Maruyama T, Menju M, Toyoshima H, Yamamoto T, Fukumoto S, Konishi I.

Intern Med. 2002 Dec;41(12):1153-7.

PMID:
12521205
[PubMed - indexed for MEDLINE]
Free Article
16.

Familial hypocalciuric hypercalcemia and other disorders with resistance to extracellular calcium.

Brown EM.

Endocrinol Metab Clin North Am. 2000 Sep;29(3):503-22. Review.

PMID:
11033758
[PubMed - indexed for MEDLINE]
17.

Familial hypercalcemia and hypercalciuria: no mutations in the Ca2+-sensing receptor gene.

Rodríguez-Soriano J, Vallo A, Quintela MJ, Pérez de Nanclares G, Bilbao JR, Castaño L.

Pediatr Nephrol. 2001 Sep;16(9):748-51.

PMID:
11511994
[PubMed - indexed for MEDLINE]
18.

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]
19.

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
20.

Plasma 25-hydroxyvitamin D, 1,25-dihydroxyvitamin D, and parathyroid hormone in familial hypocalciuric hypercalcemia and primary hyperparathyroidism.

Christensen SE, Nissen PH, Vestergaard P, Heickendorff L, Rejnmark L, Brixen K, Mosekilde L.

Eur J Endocrinol. 2008 Dec;159(6):719-27. doi: 10.1530/EJE-08-0440. Epub 2008 Sep 11.

PMID:
18787045
[PubMed - indexed for MEDLINE]
Free Article

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