1-20 of 23
Authors: Geoffrey N. Hendy
Journal Article
Homozygous Calcium-Sensing Receptor Polymorphism R544Q Presents as Hypocalcemic Hypoparathyroidism Free
The Journal of Clinical Endocrinology & Metabolism, Volume 103, Issue 8, August 2018, Pages 2879–2888, https://doi.org/10.1210/jc.2017-02407
Published: 25 May 2018
Journal Article
Autosomal Dominant PTH Gene Signal Sequence Mutation in a Family With Familial Isolated Hypoparathyroidism Free
The Journal of Clinical Endocrinology & Metabolism, Volume 102, Issue 11, 1 November 2017, Pages 3961–3969, https://doi.org/10.1210/jc.2017-00250
Published: 18 August 2017
Journal Article
Cinacalcet Treatment in an Adolescent With Concurrent 22q11.2 Deletion Syndrome and Familial Hypocalciuric Hypercalcemia Type 3 Caused by AP2S1 Mutation Free
The Journal of Clinical Endocrinology & Metabolism, Volume 100, Issue 7, 1 July 2015, Pages 2515–2518, https://doi.org/10.1210/jc.2015-1518
Published: 01 July 2015
Journal Article
Increased Prevalence of the GCM2 Polymorphism, Y282D, in Primary Hyperparathyroidism: Analysis of Three Italian Cohorts Get access
The Journal of Clinical Endocrinology & Metabolism, Volume 99, Issue 12, December 2014, Pages E2794–E2798, https://doi.org/10.1210/jc.2014-2857
Published: 01 December 2014
Journal Article
Codon Arg15 Mutations of the AP2S1 Gene: Common Occurrence in Familial Hypocalciuric Hypercalcemia Cases Negative for Calcium-Sensing Receptor (CASR) Mutations Get access
The Journal of Clinical Endocrinology & Metabolism, Volume 99, Issue 7, 1 July 2014, Pages E1311–E1315, https://doi.org/10.1210/jc.2014-1120
Published: 01 July 2014
Journal Article
Ruling in a Suspect: The Role of AP2S1 Mutations in Familial Hypocalciuric Hypercalcemia Type 3 Get access
The Journal of Clinical Endocrinology & Metabolism, Volume 98, Issue 12, 1 December 2013, Pages 4666–4669, https://doi.org/10.1210/jc.2013-3616
Published: 01 December 2013
Journal Article
Decreased Transcriptional Activity of Calcium-sensing receptor Gene Promoter 1 Is Associated With Calcium Nephrolithiasis Get access
The Journal of Clinical Endocrinology & Metabolism, Volume 98, Issue 9, 1 September 2013, Pages 3839–3847, https://doi.org/10.1210/jc.2013-1834
Published: 01 September 2013
Journal Article
Menin Missense Mutants Encoded by the MEN1 Gene that Are Targeted to the Proteasome: Restoration of Expression and Activity by CHIP siRNA Get access
The Journal of Clinical Endocrinology & Metabolism, Volume 97, Issue 2, 1 February 2012, Pages E282–E291, https://doi.org/10.1210/jc.2011-0241
Published: 01 February 2012
Journal Article
Neonatal Hyperparathyroidism with a Heterozygous Calcium-Sensing Receptor (CASR) R185Q Mutation: Clinical Benefit from Cinacalcet Get access
The Journal of Clinical Endocrinology & Metabolism, Volume 96, Issue 4, 1 April 2011, Pages E707–E712, https://doi.org/10.1210/jc.2010-1306
Published: 01 April 2011
Journal Article
Calcium-Sensing Receptor (CASR) Mutations in Hypercalcemic States: Studies from a Single Endocrine Clinic Over Three Years Get access
The Journal of Clinical Endocrinology & Metabolism, Volume 95, Issue 4, 1 April 2010, Pages 1819–1829, https://doi.org/10.1210/jc.2008-2430
Published: 01 April 2010
Journal Article
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 Get access
The Journal of Clinical Endocrinology & Metabolism, Volume 92, Issue 7, 1 July 2007, Pages 2616–2623, https://doi.org/10.1210/jc.2007-0123
Published: 01 July 2007
Journal Article
Primary Hyperparathyroidism and the Presence of Kidney Stones Are Associated with Different Haplotypes of the Calcium-Sensing Receptor Get access
The Journal of Clinical Endocrinology & Metabolism, Volume 92, Issue 1, January 2007, Pages 277–283, https://doi.org/10.1210/jc.2006-0857
Published: 01 January 2007
Journal Article
A Hypocalcemic Child with a Novel Activating Mutation of the Calcium-Sensing Receptor Gene: Successful Treatment with Recombinant Human Parathyroid Hormone Get access
The Journal of Clinical Endocrinology & Metabolism, Volume 91, Issue 7, 1 July 2006, Pages 2474–2479, https://doi.org/10.1210/jc.2005-2605
Published: 01 July 2006
Journal Article
Functional Characterization of Calcium-Sensing Receptor Codon 227 Mutations Presenting as Either Familial (Benign) Hypocalciuric Hypercalcemia or Neonatal Hyperparathyroidism Get access
The Journal of Clinical Endocrinology & Metabolism, Volume 90, Issue 2, 1 February 2005, Pages 864–870, https://doi.org/10.1210/jc.2004-1791
Published: 01 February 2005
Journal Article
Blood Ionized Calcium Is Associated with Clustered Polymorphisms in the Carboxyl-Terminal Tail of the Calcium-Sensing Receptor Get access
The Journal of Clinical Endocrinology & Metabolism, Volume 89, Issue 11, 1 November 2004, Pages 5634–5638, https://doi.org/10.1210/jc.2004-0129
Published: 01 November 2004
Journal Article
Familial Isolated Hyperparathyroidism Is Rarely Caused by Germline Mutation in HRPT2, the Gene for the Hyperparathyroidism-Jaw Tumor Syndrome Get access
The Journal of Clinical Endocrinology & Metabolism, Volume 89, Issue 1, 1 January 2004, Pages 96–102, https://doi.org/10.1210/jc.2003-030675
Published: 01 January 2004
Journal Article
Recurrent Familial Hypocalcemia Due to Germline Mosaicism for an Activating Mutation of the Calcium-Sensing Receptor Gene Get access
The Journal of Clinical Endocrinology & Metabolism, Volume 88, Issue 8, 1 August 2003, Pages 3674–3681, https://doi.org/10.1210/jc.2003-030409
Published: 01 August 2003
Journal Article
A Syndrome of Hypocalciuric Hypercalcemia Caused by Autoantibodies Directed at the Calcium-Sensing Receptor Get access
The Journal of Clinical Endocrinology & Metabolism, Volume 88, Issue 1, 1 January 2003, Pages 60–72, https://doi.org/10.1210/jc.2002-020249
Published: 01 January 2003
Journal Article
Association between AAAG Repeat Polymorphism in the P3 Promoter of the Human Parathyroid Hormone (PTH)/PTH-Related Peptide Receptor Gene and Adult Height, Urinary Pyridinoline Excretion, and Promoter Activity Get access
The Journal of Clinical Endocrinology & Metabolism, Volume 87, Issue 4, 1 April 2002, Pages 1791–1796, https://doi.org/10.1210/jcem.87.4.8419
Published: 01 April 2002
Journal Article
Identification and Functional Characterization of Novel Calcium-Sensing Receptor Mutations in Familial Hypocalciuric Hypercalcemia and Autosomal Dominant Hypocalcemia Get access
The Journal of Clinical Endocrinology & Metabolism, Volume 87, Issue 3, 1 March 2002, Pages 1309–1318, https://doi.org/10.1210/jcem.87.3.8280
Published: 01 March 2002
