Geoffrey N Hendy Selected Research

Hypercalcemia (Milk Alkali Syndrome)

07/2007	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.
06/2005	Impaired cotranslational processing of the calcium-sensing receptor due to signal peptide missense mutations in familial hypocalciuric hypercalcemia.
02/2005	Functional characterization of calcium-sensing receptor codon 227 mutations presenting as either familial (benign) hypocalciuric hypercalcemia or neonatal hyperparathyroidism.
08/2004	CASRdb: calcium-sensing receptor locus-specific database for mutations causing familial (benign) hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia.
01/2003	A syndrome of hypocalciuric hypercalcemia caused by autoantibodies directed at the calcium-sensing receptor.
03/2002	Identification and functional characterization of novel calcium-sensing receptor mutations in familial hypocalciuric hypercalcemia and autosomal dominant hypocalcemia.

6	Hypercalcemia (Milk Alkali Syndrome) 07/2007 - 03/2002
3	Hypocalcemia 08/2004 - 03/2002
2	Syndrome 02/2007 - 01/2003
2	Hyperparathyroidism 02/2005 - 08/2004
1	Hypoparathyroidism 02/2007
1	Deafness (Deaf Mutism) 02/2007
1	Kidney Calculi (Kidney Stone) 01/2007
1	Primary Hyperparathyroidism 01/2007
1	Carcinoma (Carcinomatosis) 01/2005
1	Chronic Renal Insufficiency 04/2004

9	Calcium-Sensing ReceptorsIBA 07/2007 - 03/2002
1	Vitamin D FDA LinkGeneric 07/2007
1	GATA3 Transcription FactorIBA 02/2007
1	DNA (Deoxyribonucleic Acid)IBA 02/2007
1	Protein Sorting Signals (Signal Peptide)IBA 06/2005
1	Codon (Codons)IBA 02/2005
1	1,25-dihydroxyvitamin DIBA 01/2005
1	Calcitriol (Calcijex)FDA LinkGeneric 04/2004
1	AutoantibodiesIBA 01/2003