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.
246 related articles for article (PubMed ID: 24854525)
1. A novel CASR mutation associated with neonatal severe hyperparathyroidism transmitted as an autosomal recessive disorder. Diaz-Thomas A; Cannon J; Iyer P; Al-Maawali A; Fazalullah M; Diamond F; Mueller OT; Root AW; Alyaarubi S J Pediatr Endocrinol Metab; 2014 Sep; 27(9-10):851-6. PubMed ID: 24854525 [TBL] [Abstract][Full Text] [Related]
2. Neonatal Severe Hyperparathyroidism: Novel Insights From Calcium, PTH, and the CASR Gene. Marx SJ; Sinaii N J Clin Endocrinol Metab; 2020 Apr; 105(4):1061-78. PubMed ID: 31778168 [TBL] [Abstract][Full Text] [Related]
3. Two novel missense mutations in calcium-sensing receptor gene associated with neonatal severe hyperparathyroidism. Kobayashi M; Tanaka H; Tsuzuki K; Tsuyuki M; Igaki H; Ichinose Y; Aya K; Nishioka N; Seino Y J Clin Endocrinol Metab; 1997 Aug; 82(8):2716-9. PubMed ID: 9253359 [TBL] [Abstract][Full Text] [Related]
4. Subtotal Parathyroidectomy Successfully Controls Calcium Levels of Patients with Neonatal Severe Hyperparathyroidism Carrying a Novel CASR Mutation. Wejaphikul K; Dejkhamron P; Khorana J; Watcharachan K; Intachai W; Olsen B; Tongsima S; Ketudat Cairns JR; Ngamphiw C; Kantaputra P Horm Res Paediatr; 2023; 96(4):432-438. PubMed ID: 36626889 [TBL] [Abstract][Full Text] [Related]
5. 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]
6. Neonatal severe hyperparathyroidism associated with a novel de novo heterozygous R551K inactivating mutation and a heterozygous A986S polymorphism of the calcium-sensing receptor gene. Tõke J; Czirják G; Patócs A; Enyedi B; Gergics P; Csákváry V; Enyedi P; Tóth M Clin Endocrinol (Oxf); 2007 Sep; 67(3):385-92. PubMed ID: 17555508 [TBL] [Abstract][Full Text] [Related]
7. Calcium signaling regulates trafficking of familial hypocalciuric hypercalcemia (FHH) mutants of the calcium sensing receptor. Grant MP; Stepanchick A; Breitwieser GE Mol Endocrinol; 2012 Dec; 26(12):2081-91. PubMed ID: 23077345 [TBL] [Abstract][Full Text] [Related]
8. Cinacalcet as a First-Line Treatment in Neonatal Severe Hyperparathyroidism Secondary to Calcium Sensing Receptor (CaSR) Mutation. Gulcan-Kersin S; Kirkgoz T; Eltan M; Rzayev T; Ata P; Bilgen H; Ozek E; Bereket A; Turan S Horm Res Paediatr; 2020; 93(5):313-321. PubMed ID: 33147586 [TBL] [Abstract][Full Text] [Related]
9. 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]
10. Markedly reduced activity of mutant calcium-sensing receptor with an inserted Alu element from a kindred with familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Bai M; Janicic N; Trivedi S; Quinn SJ; Cole DE; Brown EM; Hendy GN J Clin Invest; 1997 Apr; 99(8):1917-25. PubMed ID: 9109436 [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]
13. 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]
14. Novel homozygous inactivating mutation of the calcium-sensing receptor gene (CASR) in neonatal severe hyperparathyroidism-lack of effect of cinacalcet. Atay Z; Bereket A; Haliloglu B; Abali S; Ozdogan T; Altuncu E; Canaff L; Vilaça T; Wong BY; Cole DE; Hendy GN; Turan S Bone; 2014 Jul; 64():102-7. PubMed ID: 24735972 [TBL] [Abstract][Full Text] [Related]
15. An acceptor splice site mutation in the calcium-sensing receptor (CASR) gene in familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. D'Souza-Li L; Canaff L; Janicic N; Cole DE; Hendy GN Hum Mutat; 2001 Nov; 18(5):411-21. PubMed ID: 11668634 [TBL] [Abstract][Full Text] [Related]
16. 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]
17. Calcium-sensing receptor (CASR) mutations in hypercalcemic states: studies from a single endocrine clinic over three years. Guarnieri V; Canaff L; Yun FH; Scillitani A; Battista C; Muscarella LA; Wong BY; Notarangelo A; D'Agruma L; Sacco M; Cole DE; Hendy GN J Clin Endocrinol Metab; 2010 Apr; 95(4):1819-29. PubMed ID: 20164288 [TBL] [Abstract][Full Text] [Related]
19. Generation of an induced pluripotent stem cell line HPCASRi002-A from a patient with neonatal severe primary hyperparathyroidism caused by a compound heterozygous mutation in the CASR gene. Panova AV; Kulikova KS; Klementieva NV; Krylov ID; Snezhko IO; Tiulpakov AN; Kiselev SL Stem Cell Res; 2021 Jul; 54():102414. PubMed ID: 34111698 [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]