Similar articles for PMID: 23169696

Year	Number of Results
1963	1
1993	1
1995	3
1996	5
1997	1
1999	3
2000	6
2001	4
2002	4
2003	10
2004	9
2005	11
2006	10
2007	6
2008	8
2009	15
2010	21
2011	12
2012	13
2013	14
2014	18
2015	18
2016	28
2017	17
2018	20
2019	10
2020	18
2021	19
2022	22
2023	11
2024	1

1

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. Lia-Baldini AS, et al. Eur J Endocrinol. 2013 Jan 17;168(2):K27-34. doi: 10.1530/EJE-12-0714. Print 2013 Feb. Eur J Endocrinol. 2013. PMID: 23169696

2

A novel mutation in the calcium-sensing receptor in a French family with familial hypocalciuric hypercalcaemia.

Al-Salameh A, Cetani F, Pardi E, Vulpoi C, Pierre P, de Calan L, Guyetant S, Jeunemaitre X, Lecomte P. Al-Salameh A, et al. Eur J Endocrinol. 2011 Aug;165(2):359-63. doi: 10.1530/EJE-11-0141. Epub 2011 May 12. Eur J Endocrinol. 2011. PMID: 21566075

3

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. Cetani F, et al. Eur J Endocrinol. 2009 Mar;160(3):481-9. doi: 10.1530/EJE-08-0798. Epub 2008 Dec 10. Eur J Endocrinol. 2009. PMID: 19073830 Free article.

4

Identification and functional analysis of a novel CaSR mutation in a family with familial hypocalciuric hypercalcemia.

Kim ES, Kim SY, Lee JY, Han JH, Sohn TS, Son HS, Moon SD. Kim ES, et al. J Bone Miner Metab. 2016 Nov;34(6):662-667. doi: 10.1007/s00774-015-0713-z. Epub 2015 Sep 19. J Bone Miner Metab. 2016. PMID: 26386835

5

Identification and Functional Characterization of a Calcium-Sensing Receptor Mutation in an Infant with Familial Hypocalciuric Hypercalcemia.

Papadopoulou A, Gole E, Melachroinou K, Meristoudis C, Siahanidou T, Papadimitriou A. Papadopoulou A, et al. J Clin Res Pediatr Endocrinol. 2016 Sep 1;8(3):341-6. doi: 10.4274/jcrpe.2800. Epub 2016 Apr 18. J Clin Res Pediatr Endocrinol. 2016. PMID: 27087013 Free PMC article.

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. Pidasheva S, et al. Hum Mol Genet. 2005 Jun 15;14(12):1679-90. doi: 10.1093/hmg/ddi176. Epub 2005 May 6. Hum Mol Genet. 2005. PMID: 15879434

7

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. Bai M, et al. J Clin Invest. 1997 Apr 15;99(8):1917-25. doi: 10.1172/JCI119359. J Clin Invest. 1997. PMID: 9109436 Free PMC article.

8

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. Stratta P, et al. Nephrol Dial Transplant. 2014 Oct;29(10):1902-9. doi: 10.1093/ndt/gfu065. Epub 2014 Aug 7. Nephrol Dial Transplant. 2014. PMID: 25104082

9

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. D'Souza-Li L, et al. J Clin Endocrinol Metab. 2002 Mar;87(3):1309-18. doi: 10.1210/jcem.87.3.8280. J Clin Endocrinol Metab. 2002. PMID: 11889203

10

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. Ward BK, et al. Clin Endocrinol (Oxf). 2006 May;64(5):580-7. doi: 10.1111/j.1365-2265.2006.02512.x. Clin Endocrinol (Oxf). 2006. PMID: 16649980

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