These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
301 related articles for article (PubMed ID: 25292184)
1. A novel mutation in calcium-sensing receptor gene associated to hypercalcemia and hypercalciuria. Mastromatteo E; Lamacchia O; Campo MR; Conserva A; Baorda F; Cinque L; Guarnieri V; Scillitani A; Cignarelli M BMC Endocr Disord; 2014 Oct; 14():81. PubMed ID: 25292184 [TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. Cinacalcet therapy in a child with novel homozygous CASR p.Glu353Lys mutation causing familial hypocalciuric hypercalcemia type 1: case report and review of the literature. Koca SB Turk J Pediatr; 2023; 65(5):853-861. PubMed ID: 37853976 [TBL] [Abstract][Full Text] [Related]
5. Calcium-sensing-related gene mutations in hypercalcaemic hypocalciuric patients as differential diagnosis from primary hyperparathyroidism: detection of two novel inactivating mutations in an Italian population. Stratta P; Merlotti G; Musetti C; Quaglia M; Pagani A; Izzo C; Radin E; Airoldi A; Baorda F; Palladino T; Leone MP; Guarnieri V Nephrol Dial Transplant; 2014 Oct; 29(10):1902-9. PubMed ID: 25104082 [TBL] [Abstract][Full Text] [Related]
6. Identification and characterization of a novel CASR mutation causing familial hypocalciuric hypercalcemia. Lin CM; Ding YX; Huang SM; Chen YC; Lee HJ; Sung CC; Lin SH Front Endocrinol (Lausanne); 2024; 15():1291160. PubMed ID: 38487341 [TBL] [Abstract][Full Text] [Related]
7. Familial hypercalcemia and hypercalciuria caused by a novel mutation in the cytoplasmic tail of the calcium receptor. Carling T; Szabo E; Bai M; Ridefelt P; Westin G; Gustavsson P; Trivedi S; Hellman P; Brown EM; Dahl N; Rastad J J Clin Endocrinol Metab; 2000 May; 85(5):2042-7. PubMed ID: 10843194 [TBL] [Abstract][Full Text] [Related]
8. Familial hypocalciuric hypercalcemia in an infant: diagnosis and management quandaries. Goldsweig B; Turk Yilmaz RS; Ravindranath Waikar A; Brownstein C; Carpenter TO J Bone Miner Res; 2024 Sep; 39(10):1406-1411. PubMed ID: 39163488 [TBL] [Abstract][Full Text] [Related]
9. 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. 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]
12. Familial hypocalciuric hypercalcaemia type 1 caused by a novel heterozygous missense variant in the CaSR gene, p(His41Arg): two case reports. Courtney A; Hill A; Smith D; Agha A BMC Endocr Disord; 2022 Dec; 22(1):324. PubMed ID: 36536367 [TBL] [Abstract][Full Text] [Related]
13. Beneficial effect of cinacalcet in a child with familial hypocalciuric hypercalcemia. Alon US; VandeVoorde RG Pediatr Nephrol; 2010 Sep; 25(9):1747-50. PubMed ID: 20495831 [TBL] [Abstract][Full Text] [Related]
15. Familial hypocalciuric hypercalcemia caused by homozygous CaSR gene mutation: A case report of a family. Wang F; Hu J; Mei C; Lin X; Zhang L Medicine (Baltimore); 2020 Aug; 99(35):e21940. PubMed ID: 32871939 [TBL] [Abstract][Full Text] [Related]
16. Neonatal hypercalcemia due to a homozygous mutation in the calcium-sensing receptor: failure of cinacalcet. García Soblechero E; Ferrer Castillo MT; Jiménez Crespo B; Domínguez Quintero ML; González Fuentes C Neonatology; 2013; 104(2):104-8. PubMed ID: 23817301 [TBL] [Abstract][Full Text] [Related]
17. New mutation in the CASR gene in a family with familial hypocalciuric hypercalcemia (FHH) and neonatal severe hyperparathyroidism (NSHPT). Rodrigues LS; Cáu AC; Bussmann LZ; Bastida G; Brunetto OH; Corrêa PH; Martin RM Arq Bras Endocrinol Metabol; 2011 Feb; 55(1):67-71. PubMed ID: 21468522 [TBL] [Abstract][Full Text] [Related]
18. Calcimimetic Use in Familial Hypocalciuric Hypercalcemia-A Perspective in Endocrinology. Marx SJ J Clin Endocrinol Metab; 2017 Nov; 102(11):3933-3936. PubMed ID: 28945857 [TBL] [Abstract][Full Text] [Related]
19. The calcium-sensing receptor in physiology and in calcitropic and noncalcitropic diseases. Hannan FM; Kallay E; Chang W; Brandi ML; Thakker RV Nat Rev Endocrinol; 2018 Dec; 15(1):33-51. PubMed ID: 30443043 [TBL] [Abstract][Full Text] [Related]
20. [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] [Next] [New Search]