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Results: 1 to 20 of 120

1.

Localization of familial benign hypercalcemia, Oklahoma variant (FBHOk), to chromosome 19q13.

Lloyd SE, Pannett AA, Dixon PH, Whyte MP, Thakker RV.

Am J Hum Genet. 1999 Jan;64(1):189-95.

PMID:
9915958
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Comparison of human chromosome 19q13 and syntenic region on mouse chromosome 7 reveals absence, in man, of 11.6 Mb containing four mouse calcium-sensing receptor-related sequences: relevance to familial benign hypocalciuric hypercalcaemia type 3.

Hannan FM, Nesbit MA, Turner JJ, Stacey JM, Cianferotti L, Christie PT, Conigrave AD, Whyte MP, Thakker RV.

Eur J Hum Genet. 2010 Apr;18(4):442-7. doi: 10.1038/ejhg.2009.161. Epub 2009 Oct 7.

PMID:
19809483
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Genetic linkage analysis in familial benign (hypocalciuric) hypercalcemia: evidence for locus heterogeneity.

Heath H 3rd, Jackson CE, Otterud B, Leppert MF.

Am J Hum Genet. 1993 Jul;53(1):193-200.

PMID:
8317484
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Identification of a second kindred with familial hypocalciuric hypercalcemia type 3 (FHH3) narrows localization to a <3.5 megabase pair region on chromosome 19q13.3.

Nesbit MA, Hannan FM, Graham U, Whyte MP, Morrison PJ, Hunter SJ, Thakker RV.

J Clin Endocrinol Metab. 2010 Apr;95(4):1947-54. doi: 10.1210/jc.2009-2152. Epub 2010 Feb 4.

PMID:
20133464
[PubMed - indexed for MEDLINE]
5.

Linkage studies in a kindred from Oklahoma, with familial benign (hypocalciuric) hypercalcaemia (FBH) and developmental elevations in serum parathyroid hormone levels, indicate a third locus for FBH.

Trump D, Whyte MP, Wooding C, Pang JT, Pearce SH, Kocher DB, Thakker RV.

Hum Genet. 1995 Aug;96(2):183-7.

PMID:
7635467
[PubMed - indexed for MEDLINE]
6.

Disorders of the calcium-sensing receptor.

Thakker RV.

Biochim Biophys Acta. 1998 Dec 10;1448(2):166-70.

PMID:
9920407
[PubMed - indexed for MEDLINE]
Free Article
7.

Diseases associated with the extracellular calcium-sensing receptor.

Thakker RV.

Cell Calcium. 2004 Mar;35(3):275-82. Review.

PMID:
15200151
[PubMed - indexed for MEDLINE]
8.

Mapping of the calcium-sensing receptor gene (CASR) to human chromosome 3q13.3-21 by fluorescence in situ hybridization, and localization to rat chromosome 11 and mouse chromosome 16.

Janicic N, Soliman E, Pausova Z, Seldin MF, Rivière M, Szpirer J, Szpirer C, Hendy GN.

Mamm Genome. 1995 Nov;6(11):798-801.

PMID:
8597637
[PubMed - indexed for MEDLINE]
9.

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
10.

[Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism caused by inactivating mutations of calcium-sensing receptor].

Watanabe S, Fukumoto S.

Nihon Rinsho. 2002 Feb;60(2):325-30. Review. Japanese.

PMID:
11857921
[PubMed - indexed for MEDLINE]
11.

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]
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 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.

Clin Chim Acta. 2005 Oct;360(1-2):167-72.

PMID:
15963484
[PubMed - indexed for MEDLINE]
14.

Calcium-sensing receptor mutations in familial hypocalciuric hypercalcaemia with recurrent pancreatitis.

Pearce SH, Wooding C, Davies M, Tollefsen SE, Whyte MP, Thakker RV.

Clin Endocrinol (Oxf). 1996 Dec;45(6):675-80.

PMID:
9039332
[PubMed - indexed for MEDLINE]
15.

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]
16.

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]
17.

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
18.

The gene responsible for familial hypocalciuric hypercalcemia maps to chromosome 3q in four unrelated families.

Chou YH, Brown EM, Levi T, Crowe G, Atkinson AB, Arnqvist HJ, Toss G, Fuleihan GE, Seidman JG, Seidman CE.

Nat Genet. 1992 Jul;1(4):295-300.

PMID:
1302026
[PubMed - indexed for MEDLINE]
19.

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]
20.

Delineating a Ca2+ binding pocket within the venus flytrap module of the human calcium-sensing receptor.

Silve C, Petrel C, Leroy C, Bruel H, Mallet E, Rognan D, Ruat M.

J Biol Chem. 2005 Nov 11;280(45):37917-23. Epub 2005 Sep 7.

PMID:
16147994
[PubMed - indexed for MEDLINE]
Free Article

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