270 related articles for article (PubMed ID: 33528764)
1. Rare diseases caused by abnormal calcium sensing and signalling.
Tőke J; Czirják G; Enyedi P; Tóth M
Endocrine; 2021 Mar; 71(3):611-617. PubMed ID: 33528764
[TBL] [Abstract][Full Text] [Related]
2. Mutations of the calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia.
Hendy GN; D'Souza-Li L; Yang B; Canaff L; Cole DE
Hum Mutat; 2000 Oct; 16(4):281-96. PubMed ID: 11013439
[TBL] [Abstract][Full Text] [Related]
3. [Disorders Caused by Mutations in Calcium-Sensing Receptor and Related Diseases.].
Michigami T
Clin Calcium; 2017; 27(4):521-527. PubMed ID: 28336828
[TBL] [Abstract][Full Text] [Related]
4. Hypercalcaemic and hypocalcaemic conditions due to calcium-sensing receptor mutations.
Egbuna OI; Brown EM
Best Pract Res Clin Rheumatol; 2008 Mar; 22(1):129-48. PubMed ID: 18328986
[TBL] [Abstract][Full Text] [Related]
5. Calcium-sensing receptor (CaSR) mutations and disorders of calcium, electrolyte and water metabolism.
Hannan FM; Thakker RV
Best Pract Res Clin Endocrinol Metab; 2013 Jun; 27(3):359-71. PubMed ID: 23856265
[TBL] [Abstract][Full Text] [Related]
6. Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites.
Hannan FM; Nesbit MA; Zhang C; Cranston T; Curley AJ; Harding B; Fratter C; Rust N; Christie PT; Turner JJ; Lemos MC; Bowl MR; Bouillon R; Brain C; Bridges N; Burren C; Connell JM; Jung H; Marks E; McCredie D; Mughal Z; Rodda C; Tollefsen S; Brown EM; Yang JJ; Thakker RV
Hum Mol Genet; 2012 Jun; 21(12):2768-78. PubMed ID: 22422767
[TBL] [Abstract][Full Text] [Related]
7. Identification of a novel calcium-sensing receptor gene mutation causing familial hypocalciuric hypercalcemia by single-strand conformation polymorphism analysis.
Felderbauer P; Hoffmann P; Klein W; Bulut K; Ansorge N; Epplen JT; Schmitz F; Schmidt WE
Exp Clin Endocrinol Diabetes; 2005 Jan; 113(1):31-4. PubMed ID: 15662592
[TBL] [Abstract][Full Text] [Related]
8. Neonatal Hypocalcemic Seizures in Offspring of a Mother With Familial Hypocalciuric Hypercalcemia Type 1 (FHH1).
Dharmaraj P; Gorvin CM; Soni A; Nelhans ND; Olesen MK; Boon H; Cranston T; Thakker RV; Hannan FM
J Clin Endocrinol Metab; 2020 May; 105(5):1393-400. PubMed ID: 32150253
[TBL] [Abstract][Full Text] [Related]
9. CASRdb: calcium-sensing receptor locus-specific database for mutations causing familial (benign) hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia.
Pidasheva S; D'Souza-Li L; Canaff L; Cole DE; Hendy GN
Hum Mutat; 2004 Aug; 24(2):107-11. PubMed ID: 15241791
[TBL] [Abstract][Full Text] [Related]
10. 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
J Clin Endocrinol Metab; 2014 Jul; 99(7):E1311-5. PubMed ID: 24731014
[TBL] [Abstract][Full Text] [Related]
11. Mutations affecting G-protein subunit α11 in hypercalcemia and hypocalcemia.
Nesbit MA; Hannan FM; Howles SA; Babinsky VN; Head RA; Cranston T; Rust N; Hobbs MR; Heath H; Thakker RV
N Engl J Med; 2013 Jun; 368(26):2476-2486. PubMed ID: 23802516
[TBL] [Abstract][Full Text] [Related]
12. Familial Hypocalciuric Hypercalcemia Type 1 and Autosomal-Dominant Hypocalcemia Type 1: Prevalence in a Large Healthcare Population.
Dershem R; Gorvin CM; Metpally RPR; Krishnamurthy S; Smelser DT; Hannan FM; Carey DJ; Thakker RV; Breitwieser GE;
Am J Hum Genet; 2020 Jun; 106(6):734-747. PubMed ID: 32386559
[TBL] [Abstract][Full Text] [Related]
13. 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
J Clin Endocrinol Metab; 2002 Mar; 87(3):1309-18. PubMed ID: 11889203
[TBL] [Abstract][Full Text] [Related]
14. GENETICS IN ENDOCRINOLOGY: Gain and loss of function mutations of the calcium-sensing receptor and associated proteins: current treatment concepts.
Mayr B; Schnabel D; Dörr HG; Schöfl C
Eur J Endocrinol; 2016 May; 174(5):R189-208. PubMed ID: 26646938
[TBL] [Abstract][Full Text] [Related]
15. A G-protein Subunit-α11 Loss-of-Function Mutation, Thr54Met, Causes Familial Hypocalciuric Hypercalcemia Type 2 (FHH2).
Gorvin CM; Cranston T; Hannan FM; Rust N; Qureshi A; Nesbit MA; Thakker RV
J Bone Miner Res; 2016 Jun; 31(6):1200-6. PubMed ID: 26729423
[TBL] [Abstract][Full Text] [Related]
16. Diseases associated with calcium-sensing receptor.
Vahe C; Benomar K; Espiard S; Coppin L; Jannin A; Odou MF; Vantyghem MC
Orphanet J Rare Dis; 2017 Jan; 12(1):19. PubMed ID: 28122587
[TBL] [Abstract][Full Text] [Related]
17. [Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism caused by inactivating mutations of calcium-sensing receptor].
Watanabe S; Fukumoto S
Nihon Rinsho; 2002 Feb; 60(2):325-30. PubMed ID: 11857921
[TBL] [Abstract][Full Text] [Related]
18. Diseases associated with the extracellular calcium-sensing receptor.
Thakker RV
Cell Calcium; 2004 Mar; 35(3):275-82. PubMed ID: 15200151
[TBL] [Abstract][Full Text] [Related]
19. Calcium-sensing receptor sequencing in 21 patients with idiopathic or familial parathyroid disorder: pitfalls and characterization of a novel I32 V loss-of-function mutation.
Szalat A; Shahar M; Shpitzen S; Nachmias B; Munter G; Gillis D; Durst R; Mevorach D; Leitersdorf E; Meiner V; Rosen H
Endocrine; 2015 Mar; 48(2):444-53. PubMed ID: 25091521
[TBL] [Abstract][Full Text] [Related]
20. [Calcium sensing receptor: physiology and pathology].
Faivre-Defrance F; Marcelli-Tourvieille S; Odou MF; Porchet N; Wemeau JL; Vantyghem MC
Ann Endocrinol (Paris); 2006 Mar; 67(1):45-53. PubMed ID: 16596058
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
