Canaff L - Search Results

1

Calcium-sensing receptor (CASR) mutations in hypercalcemic states: studies from a single endocrine clinic over three years.

Guarnieri V, Canaff L, Yun FH, Scillitani A, Battista C, Muscarella LA, Wong BY, Notarangelo A, D'Agruma L, Sacco M, Cole DE, Hendy GN. Guarnieri V, et al. Among authors: canaff l. J Clin Endocrinol Metab. 2010 Apr;95(4):1819-29. doi: 10.1210/jc.2008-2430. Epub 2010 Feb 17. J Clin Endocrinol Metab. 2010. PMID: 20164288

2

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. Among authors: canaff l. J Clin Endocrinol Metab. 2002 Mar;87(3):1309-18. doi: 10.1210/jcem.87.3.8280. J Clin Endocrinol Metab. 2002. PMID: 11889203

3

Recurrent familial hypocalcemia due to germline mosaicism for an activating mutation of the calcium-sensing receptor gene.

Hendy GN, Minutti C, Canaff L, Pidasheva S, Yang B, Nouhi Z, Zimmerman D, Wei C, Cole DE. Hendy GN, et al. Among authors: canaff l. J Clin Endocrinol Metab. 2003 Aug;88(8):3674-81. doi: 10.1210/jc.2003-030409. J Clin Endocrinol Metab. 2003. PMID: 12915654

4

A hypocalcemic child with a novel activating mutation of the calcium-sensing receptor gene: successful treatment with recombinant human parathyroid hormone.

Mittelman SD, Hendy GN, Fefferman RA, Canaff L, Mosesova I, Cole DE, Burkett L, Geffner ME. Mittelman SD, et al. Among authors: canaff l. J Clin Endocrinol Metab. 2006 Jul;91(7):2474-9. doi: 10.1210/jc.2005-2605. Epub 2006 Apr 11. J Clin Endocrinol Metab. 2006. PMID: 16608894

5

Genetic variation at the calcium-sensing receptor (CASR) locus: implications for clinical molecular diagnostics.

Yun FH, Wong BY, Chase M, Shuen AY, Canaff L, Thongthai K, Siminovitch K, Hendy GN, Cole DE. Yun FH, et al. Among authors: canaff l. Clin Biochem. 2007 May;40(8):551-61. doi: 10.1016/j.clinbiochem.2006.12.011. Epub 2007 Jan 18. Clin Biochem. 2007. PMID: 17320849

6

Identification and functional characterization of a novel mutation in the calcium-sensing receptor gene in familial hypocalciuric hypercalcemia: modulation of clinical severity by vitamin D status.

Zajickova K, Vrbikova J, Canaff L, Pawelek PD, Goltzman D, Hendy GN. Zajickova K, et al. Among authors: canaff l. J Clin Endocrinol Metab. 2007 Jul;92(7):2616-23. doi: 10.1210/jc.2007-0123. Epub 2007 May 1. J Clin Endocrinol Metab. 2007. PMID: 17473068

7

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. Cole DE, et al. Among authors: canaff l. J Mol Endocrinol. 2009 Apr;42(4):331-9. doi: 10.1677/JME-08-0164. Epub 2009 Jan 29. J Mol Endocrinol. 2009. PMID: 19179454

8

The CASR gene: alternative splicing and transcriptional control, and calcium-sensing receptor (CaSR) protein: structure and ligand binding sites.

Hendy GN, Canaff L, Cole DE. Hendy GN, et al. Among authors: canaff l. Best Pract Res Clin Endocrinol Metab. 2013 Jun;27(3):285-301. doi: 10.1016/j.beem.2013.02.009. Epub 2013 Mar 27. Best Pract Res Clin Endocrinol Metab. 2013. PMID: 23856260 Review.

9

Codon Arg15 mutations of the AP2S1 gene: common occurrence in familial hypocalciuric hypercalcemia cases negative for calcium-sensing receptor (CASR) mutations.

Hendy GN, Canaff L, Newfield RS, Tripto-Shkolnik L, Wong BY, Lee BS, Cole DE. Hendy GN, et al. Among authors: canaff l. J Clin Endocrinol Metab. 2014 Jul;99(7):E1311-5. doi: 10.1210/jc.2014-1120. Epub 2014 Apr 14. J Clin Endocrinol Metab. 2014. PMID: 24731014

10

Novel homozygous inactivating mutation of the calcium-sensing receptor gene (CASR) in neonatal severe hyperparathyroidism-lack of effect of cinacalcet.

Atay Z, Bereket A, Haliloglu B, Abali S, Ozdogan T, Altuncu E, Canaff L, Vilaça T, Wong BY, Cole DE, Hendy GN, Turan S. Atay Z, et al. Among authors: canaff l. Bone. 2014 Jul;64:102-7. doi: 10.1016/j.bone.2014.04.010. Epub 2014 Apr 13. Bone. 2014. PMID: 24735972

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