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Journal Abstract Search

175 related items for PubMed ID: 9298824

  • 1. A novel mutation (L174R) in the Ca2+-sensing receptor gene associated with familial hypocalciuric hypercalcemia.
    Ward BK, Stuckey BG, Gutteridge DH, Laing NG, Pullan PT, Ratajczak T.
    Hum Mutat; 1997; 10(3):233-5. PubMed ID: 9298824
    [No Abstract] [Full Text] [Related]

  • 2. Familial hypocalciuric hypercalcemia caused by an R648stop mutation in the calcium-sensing receptor gene.
    Yamauchi M, Sugimoto T, Yamaguchi T, Yano S, Wang J, Bai M, Brown EM, Chihara K.
    J Bone Miner Res; 2002 Dec; 17(12):2174-82. PubMed ID: 12469911
    [Abstract] [Full Text] [Related]

  • 3. 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
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  • 6. [Familial hypocalciuric hypercalcemia].
    Tóth M, Speer G, Patócs A, Salamon D, Lakatos P, Rácz K, Tulassay Z.
    Orv Hetil; 2003 Oct 12; 144(41):2029-31. PubMed ID: 14631896
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  • 8. [Hypocalciuric hypercalcemia due to de novo mutation of the calcium sensing receptor].
    Sarli M, Fradinger E, Zanchetta J.
    Medicina (B Aires); 2004 Oct 12; 64(4):337-9. PubMed ID: 15338977
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  • 9. Marked hypercalcemia in a patient with hypocalciuric hypercalcemia without a mutation in the calcium-sensing receptor gene.
    Hanibuchi N, Maruyama T, Menju M, Toyoshima H, Yamamoto T, Fukumoto S, Konishi I.
    Intern Med; 2002 Dec 12; 41(12):1153-7. PubMed ID: 12521205
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  • 10. Hypocalciuric hypercalcemia presenting as neonatal rib fractures: a newly described mutation of the calcium-sensing receptor gene.
    Nyweide K, Feldman KW, Gunther DF, Done S, Lewis C, Van Eenwyk C.
    Pediatr Emerg Care; 2006 Nov 12; 22(11):722-4. PubMed ID: 17110864
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  • 11. Familial hypocalciuric hypercalcemia associated with mutation in the human Ca(2+)-sensing receptor gene.
    Aida K, Koishi S, Inoue M, Nakazato M, Tawata M, Onaya T.
    J Clin Endocrinol Metab; 1995 Sep 12; 80(9):2594-8. PubMed ID: 7673400
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  • 12. 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 12; 18(5):411-21. PubMed ID: 11668634
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  • 13. Novel mutations in the calcium-sensing receptor gene associated with biochemical and functional differences in familial hypocalciuric hypercalcaemia.
    Ward BK, Magno AL, Blitvich BJ, Rea AJ, Stuckey BG, Walsh JP, Ratajczak T.
    Clin Endocrinol (Oxf); 2006 May 12; 64(5):580-7. PubMed ID: 16649980
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  • 14. 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 12; 113(1):31-4. PubMed ID: 15662592
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  • 16. Hypocalciuric hypercalcemia and autoantibodies against the calcium-sensing receptor.
    Shakibai N.
    N Engl J Med; 2004 Nov 18; 351(21):2237-8; author reply 2237-8. PubMed ID: 15559962
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  • 18. Familial hypercalcemia and hypercalciuria: no mutations in the Ca2+-sensing receptor gene.
    Rodríguez-Soriano J, Vallo A, Quintela MJ, Pérez de Nanclares G, Bilbao JR, Castaño L.
    Pediatr Nephrol; 2001 Sep 18; 16(9):748-51. PubMed ID: 11511994
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  • 20. Beneficial effect of cinacalcet in a child with familial hypocalciuric hypercalcemia.
    Alon US, VandeVoorde RG.
    Pediatr Nephrol; 2010 Sep 18; 25(9):1747-50. PubMed ID: 20495831
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