348 related articles for article (PubMed ID: 21566074)
1. Mutations of calcium-sensing receptor gene: two novel mutations and overview of impact on calcium homeostasis.
Livadariu E; Auriemma RS; Rydlewski C; Vandeva S; Hamoir E; Burlacu MC; Maweja S; Thonnard AS; Betea D; Vassart G; Daly AF; Beckers A
Eur J Endocrinol; 2011 Aug; 165(2):353-8. PubMed ID: 21566074
[TBL] [Abstract][Full Text] [Related]
2. 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.
Zajickova K; Vrbikova J; Canaff L; Pawelek PD; Goltzman D; Hendy GN
J Clin Endocrinol Metab; 2007 Jul; 92(7):2616-23. PubMed ID: 17473068
[TBL] [Abstract][Full Text] [Related]
3. Two novel mutations of the calcium-sensing receptor gene affecting the same amino acid position lead to opposite phenotypes and reveal the importance of p.N802 on receptor activity.
Lia-Baldini AS; Magdelaine C; Nizou A; Airault C; Salles JP; Moulin P; Delemer B; Aitouares M; Funalot B; Sturtz F; Lienhardt-Roussie A
Eur J Endocrinol; 2013 Feb; 168(2):K27-34. PubMed ID: 23169696
[TBL] [Abstract][Full Text] [Related]
4. Novel mutations associated with inherited human calcium-sensing receptor disorders: A clinical genetic study.
García-Castaño A; Madariaga L; Pérez de Nanclares G; Ariceta G; Gaztambide S; Castaño L
Eur J Endocrinol; 2019 Jan; 180(1):59-70. PubMed ID: 30407919
[TBL] [Abstract][Full Text] [Related]
5. CASR gene activating mutations in two families with autosomal dominant hypocalcemia.
Guarnieri V; Valentina D'Elia A; Baorda F; Pazienza V; Benegiamo G; Stanziale P; Copetti M; Battista C; Grimaldi F; Damante G; Pellegrini F; D'Agruma L; Zelante L; Carella M; Scillitani A
Mol Genet Metab; 2012 Nov; 107(3):548-52. PubMed ID: 22789683
[TBL] [Abstract][Full Text] [Related]
6. A novel mutation in the calcium-sensing receptor in a French family with familial hypocalciuric hypercalcaemia.
Al-Salameh A; Cetani F; Pardi E; Vulpoi C; Pierre P; de Calan L; Guyetant S; Jeunemaitre X; Lecomte P
Eur J Endocrinol; 2011 Aug; 165(2):359-63. PubMed ID: 21566075
[TBL] [Abstract][Full Text] [Related]
7. [Familial hypocalciuric hypercalcemia: a new mutation].
Ubetagoyena Arrieta M; Castaño González L; Pérez de Nanclares Leal G; Arruebarrena Lizarraga D; Imaz Murguiondo M; Areses Trapote R
An Pediatr (Barc); 2011 Jan; 74(1):47-50. PubMed ID: 21185797
[TBL] [Abstract][Full Text] [Related]
8. Calcilytic Ameliorates Abnormalities of Mutant Calcium-Sensing Receptor (CaSR) Knock-In Mice Mimicking Autosomal Dominant Hypocalcemia (ADH).
Dong B; Endo I; Ohnishi Y; Kondo T; Hasegawa T; Amizuka N; Kiyonari H; Shioi G; Abe M; Fukumoto S; Matsumoto T
J Bone Miner Res; 2015 Nov; 30(11):1980-93. PubMed ID: 25967373
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. A novel germline inactivating mutation in the CASR gene in an Italian kindred affected by familial hypocalciuric hypercalcemia.
Falchetti A; Gozzini A; Terranegra A; Soldati L; Vezzoli G; Leoncini G; Giusti F; Franceschelli F; Masi L; Tanini A; Cavalli L; Brandi ML
Eur J Endocrinol; 2012 May; 166(5):933-40. PubMed ID: 22315359
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. A novel loss-of-function mutation, Gln459Arg, of the calcium-sensing receptor gene associated with apparent autosomal recessive inheritance of familial hypocalciuric hypercalcemia.
Lietman SA; Tenenbaum-Rakover Y; Jap TS; Yi-Chi W; De-Ming Y; Ding C; Kussiny N; Levine MA
J Clin Endocrinol Metab; 2009 Nov; 94(11):4372-9. PubMed ID: 19789209
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Molecular genetic analysis of the calcium sensing receptor gene in patients clinically suspected to have familial hypocalciuric hypercalcemia: phenotypic variation and mutation spectrum in a Danish population.
Nissen PH; Christensen SE; Heickendorff L; Brixen K; Mosekilde L
J Clin Endocrinol Metab; 2007 Nov; 92(11):4373-9. PubMed ID: 17698911
[TBL] [Abstract][Full Text] [Related]
15. A homozygous CaSR mutation causing a FHH phenotype completely masked by vitamin D deficiency presenting as rickets.
Szczawinska D; Schnabel D; Letz S; Schöfl C
J Clin Endocrinol Metab; 2014 Jun; 99(6):E1146-53. PubMed ID: 24517148
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. A new mutation in the calcium-sensing receptor gene causing hypocalcaemia: case report of a father and two sons.
Schoutteten MK; Bravenboer B; Seneca S; Stouffs K; Velkeniers B
Neth J Med; 2017 Jul; 75(6):253-255. PubMed ID: 28741586
[TBL] [Abstract][Full Text] [Related]
18. [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]
19. Parathyroid hormone-dependent familial hypercalcemia with low measured PTH levels and a presumptive novel pathogenic mutation in CaSR.
Mahajan A; Buse J; Kline G
Osteoporos Int; 2020 Jan; 31(1):203-207. PubMed ID: 31641801
[TBL] [Abstract][Full Text] [Related]
20. A novel mutation of the calcium-sensing receptor gene in a Greek family from Nisyros.
Zapanti E; Polonifi A; Kokkinos M; Boutzios G; Kassi G; Nasiri Ansari N; Kassi E; Polyzos A
Hormones (Athens); 2015; 14(2):321-5. PubMed ID: 26158657
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]