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Similar articles for PubMed (Select 16598859)

1.

Identification of a novel inactivating R465Q mutation of the calcium-sensing receptor.

Leech C, Lohse P, Stanojevic V, Lechner A, Göke B, Spitzweg C.

Biochem Biophys Res Commun. 2006 Apr 14;342(3):996-1002.

PMID:
16598859
2.

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
3.

Neonatal severe hyperparathyroidism associated with a novel de novo heterozygous R551K inactivating mutation and a heterozygous A986S polymorphism of the calcium-sensing receptor gene.

Tõke J, Czirják G, Patócs A, Enyedi B, Gergics P, Csákváry V, Enyedi P, Tóth M.

Clin Endocrinol (Oxf). 2007 Sep;67(3):385-92. Epub 2007 Jun 7.

PMID:
17555508
5.

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.

6.

Identification and functional characterization of loss-of-function mutations of the calcium-sensing receptor in four Italian kindreds with familial hypocalciuric hypercalcemia.

Cetani F, Lemmi M, Cervia D, Borsari S, Cianferotti L, Pardi E, Ambrogini E, Banti C, Brown EM, Bagnoli P, Pinchera A, Marcocci C.

Eur J Endocrinol. 2009 Mar;160(3):481-9. doi: 10.1530/EJE-08-0798. Epub 2008 Dec 10.

7.

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
8.

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.

9.

A novel loss-of-function mutation, Gln459Arg, of the calcium-sensing receptor gene associated with apparent autosomal recessive inheritance of familial hypocalciuric hypercalcemia.

Lietman SA, Tenenbaum-Rakover Y, Jap TS, Yi-Chi W, De-Ming Y, Ding C, Kussiny N, Levine MA.

J Clin Endocrinol Metab. 2009 Nov;94(11):4372-9. doi: 10.1210/jc.2008-2484. Epub 2009 Sep 29.

10.

Absence of pathogenic calcium sensing receptor mutations in sporadic idiopathic hypoparathyroidism.

Sarin R, Tomar N, Ray D, Gupta N, Sharma YD, Goswami R.

Clin Endocrinol (Oxf). 2006 Sep;65(3):359-63.

PMID:
16918956
11.

A case report of familial benign hypocalciuric hypercalcemia: a mutation in the calcium-sensing receptor gene.

Woo SI, Song H, Song KE, Kim DJ, Lee KW, Kim SJ, Chung YS.

Yonsei Med J. 2006 Apr 30;47(2):255-8.

12.

Mutations of calcium-sensing receptor gene: two novel mutations and overview of impact on calcium homeostasis.

Livadariu E, Auriemma RS, Rydlewski C, Vandeva S, Hamoir E, Burlacu MC, Maweja S, Thonnard AS, Betea D, Vassart G, Daly AF, Beckers A.

Eur J Endocrinol. 2011 Aug;165(2):353-8. doi: 10.1530/EJE-11-0121. Epub 2011 May 12.

13.

Calcium-sensing-related gene mutations in hypercalcaemic hypocalciuric patients as differential diagnosis from primary hyperparathyroidism: detection of two novel inactivating mutations in an Italian population.

Stratta P, Merlotti G, Musetti C, Quaglia M, Pagani A, Izzo C, Radin E, Airoldi A, Baorda F, Palladino T, Leone MP, Guarnieri V.

Nephrol Dial Transplant. 2014 Oct;29(10):1902-9. doi: 10.1093/ndt/gfu065. Epub 2014 Aug 7.

PMID:
25104082
14.

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
15.

Two novel mutations of the calcium-sensing receptor gene affecting the same amino acid position lead to opposite phenotypes and reveal the importance of p.N802 on receptor activity.

Lia-Baldini AS, Magdelaine C, Nizou A, Airault C, Salles JP, Moulin P, Delemer B, Aitouares M, Funalot B, Sturtz F, Lienhardt-Roussie A.

Eur J Endocrinol. 2013 Jan 17;168(2):K27-34. doi: 10.1530/EJE-12-0714. Print 2013 Feb.

16.

Mutations in the calcium-sensing receptor: a new genetic risk factor for chronic pancreatitis?

Felderbauer P, Klein W, Bulut K, Ansorge N, Dekomien G, Werner I, Epplen JT, Schmitz F, Schmidt WE.

Scand J Gastroenterol. 2006 Mar;41(3):343-8.

PMID:
16497624
17.

R990G polymorphism of calcium-sensing receptor does produce a gain-of-function and predispose to primary hypercalciuria.

Vezzoli G, Terranegra A, Arcidiacono T, Biasion R, Coviello D, Syren ML, Paloschi V, Giannini S, Mignogna G, Rubinacci A, Ferraretto A, Cusi D, Bianchi G, Soldati L.

Kidney Int. 2007 Jun;71(11):1155-62. Epub 2007 Feb 28.

PMID:
17332735
18.

Calcium-sensing receptor mutations and denaturing high performance liquid chromatography.

Cole DE, Yun FH, Wong BY, Shuen AY, Booth RA, Scillitani A, Pidasheva S, Zhou X, Canaff L, Hendy GN.

J Mol Endocrinol. 2009 Apr;42(4):331-9. doi: 10.1677/JME-08-0164. Epub 2009 Jan 29. Erratum in: J Mol Endocrinol. 2010 Apr;44(4):257.

19.
20.

Two novel mutations causing familial benign hypocalciuric hypercalcaemia in three Scottish families.

Hinnie J, Vass JK, Rolfe E, Marchesi VA, MacFarlane FC, McShea L, McKibbin CC, Henderson P, Gaffney D.

Scott Med J. 2009 Nov;54(4):11-4.

PMID:
20034274
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