Hendy GN - Search Results

1

Calcium sensing receptor gene: analysis of polymorphism frequency.

Rubin LA, Peltekova V, Janicic N, Liew CC, Hwang D, Evrovski J, Hendy GN, Cole DE. Rubin LA, et al. Among authors: hendy gn. Scand J Clin Lab Invest Suppl. 1997;227:122-5. Scand J Clin Lab Invest Suppl. 1997. PMID: 9127478

2

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. Janicic N, et al. Among authors: hendy gn. Am J Hum Genet. 1995 Apr;56(4):880-6. Am J Hum Genet. 1995. PMID: 7717399 Free PMC article.

3

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. Among authors: hendy gn. J Clin Invest. 1997 Apr 15;99(8):1917-25. doi: 10.1172/JCI119359. J Clin Invest. 1997. PMID: 9109436 Free PMC article.

4

Neonatal severe hyperparathyroidism, secondary hyperparathyroidism, and familial hypocalciuric hypercalcemia: multiple different phenotypes associated with an inactivating Alu insertion mutation of the calcium-sensing receptor gene.

Cole DE, Janicic N, Salisbury SR, Hendy GN. Cole DE, et al. Among authors: hendy gn. Am J Med Genet. 1997 Aug 8;71(2):202-10. doi: 10.1002/(sici)1096-8628(19970808)71:2<202::aid-ajmg16>3.0.co;2-i. Am J Med Genet. 1997. PMID: 9217223

5

A986S polymorphism of the calcium-sensing receptor and circulating calcium concentrations.

Cole DE, Peltekova VD, Rubin LA, Hawker GA, Vieth R, Liew CC, Hwang DM, Evrovski J, Hendy GN. Cole DE, et al. Among authors: hendy gn. Lancet. 1999 Jan 9;353(9147):112-5. doi: 10.1016/s0140-6736(98)06434-4. Lancet. 1999. PMID: 10023897

6

Association between total serum calcium and the A986S polymorphism of the calcium-sensing receptor gene.

Cole DE, Vieth R, Trang HM, Wong BY, Hendy GN, Rubin LA. Cole DE, et al. Among authors: hendy gn. Mol Genet Metab. 2001 Feb;72(2):168-74. doi: 10.1006/mgme.2000.3126. Mol Genet Metab. 2001. PMID: 11161843

7

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. D'Souza-Li L, et al. Among authors: hendy gn. Hum Mutat. 2001 Nov;18(5):411-21. doi: 10.1002/humu.1212. Hum Mutat. 2001. PMID: 11668634

8

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: hendy gn. 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

9

Glial cells missing-2 (GCM2) transactivates the calcium-sensing receptor gene: effect of a dominant-negative GCM2 mutant associated with autosomal dominant hypoparathyroidism.

Canaff L, Zhou X, Mosesova I, Cole DE, Hendy GN. Canaff L, et al. Among authors: hendy gn. Hum Mutat. 2009 Jan;30(1):85-92. doi: 10.1002/humu.20827. Hum Mutat. 2009. PMID: 18712808

10

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: hendy gn. 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

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