| Unbound MEDLINE results for: | Bookmark this site | | Articles related to 18796518 [Unique ID], provided by the PubMed system | |
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| Rus R, Haag C, Bumke-Vogt C, et al.
Novel Inactivating Mutations of the Calcium-Sensing Receptor: The Calcimimetic NPS R-568 Improves Signal Transduction of Mutant Receptors. [JOURNAL ARTICLE]
J Clin Endocrinol Metab 2008 Sep 16.
Abstract | Full Citation | Publisher Full Text | Find Related Articles | | Bai M, Janicic N, Trivedi S, et al.
Markedly reduced activity of mutant calcium-sensing receptor with an inserted Alu element from a kindred with familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. [Journal Article]
J Clin Invest 1997 Apr 15; 99(8):1917-25.
Abstract | Full Citation | Publisher Full Text | Find Related Articles | | Chikatsu N, Fukumoto S, Suzawa M, et al.
An adult patient with severe hypercalcaemia and hypocalciuria due to a novel homozygous inactivating mutation of calcium-sensing receptor. [Case Reports, Journal Article]
Clin Endocrinol (Oxf) 1999 Apr; 50(4):537-43.
Abstract | Full Citation | Find Related Articles | | D'Souza-Li L, Yang B, Canaff L, et al.
Identification and functional characterization of novel calcium-sensing receptor mutations in familial hypocalciuric hypercalcemia and autosomal dominant hypocalcemia. [Journal Article]
J Clin Endocrinol Metab 2002 Mar; 87(3):1309-18.
Abstract | Full Citation | Publisher Full Text | Find Related Articles | | Brown EM
The pathophysiology of primary hyperparathyroidism. [Journal Article, Review]
J Bone Miner Res 2002 Nov.:N24-9.
Abstract | Full Citation | Publisher Full Text | Find Related Articles | | Pidasheva S, Canaff L, Simonds WF, et al.
Impaired cotranslational processing of the calcium-sensing receptor due to signal peptide missense mutations in familial hypocalciuric hypercalcemia. [Journal Article]
Hum Mol Genet 2005 Jun 15; 14(12):1679-90.
Abstract | Full Citation | Publisher Full Text | Find Related Articles | | Hendy GN, D'Souza-Li L, Yang B, et al.
Mutations of the calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia. [Journal Article, Review]
Hum Mutat 2000 Oct; 16(4):281-96.
Abstract | Full Citation | Publisher Full Text | Find Related Articles | | Zajickova K, Vrbikova J, Canaff L, et al.
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. [JOURNAL ARTICLE]
J Clin Endocrinol Metab 2007 May 1.
Abstract | Full Citation | Publisher Full Text | Find Related Articles | | Watanabe S, Fukumoto S
[Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism caused by inactivating mutations of calcium-sensing receptor] [Journal Article, Review]
Nippon Rinsho 2002 Feb; 60(2):325-30.
Abstract | Full Citation | Publisher Full Text | Find Related Articles |   |
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