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Journal Abstract Search

212 related items for PubMed ID: 11289719

  • 1. A novel activating mutation (C129S) in the calcium-sensing receptor gene in a Japanese family with autosomal dominant hypocalcemia.
    Hirai H, Nakajima S, Miyauchi A, Nishimura K, Shimizu N, Shima M, Michigami T, Ozono K, Okada S.
    J Hum Genet; 2001; 46(1):41-4. PubMed ID: 11289719
    [Abstract] [Full Text] [Related]

  • 2. Three novel activating mutations in the calcium-sensing receptor responsible for autosomal dominant hypocalcemia.
    Conley YP, Finegold DN, Peters DG, Cook JS, Oppenheim DS, Ferrell RE.
    Mol Genet Metab; 2000 Dec; 71(4):591-8. PubMed ID: 11136551
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  • 3. Autosomal dominant hypocalcemia in monozygotic twins caused by a de novo germline mutation near the amino-terminus of the human calcium receptor.
    Hu J, Mora S, Weber G, Zamproni I, Proverbio MC, Spiegel AM.
    J Bone Miner Res; 2004 Apr; 19(4):578-86. PubMed ID: 15005845
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  • 4. A novel activating mutation in calcium-sensing receptor gene associated with a family of autosomal dominant hypocalcemia.
    Okazaki R, Chikatsu N, Nakatsu M, Takeuchi Y, Ajima M, Miki J, Fujita T, Arai M, Totsuka Y, Tanaka K, Fukumoto S.
    J Clin Endocrinol Metab; 1999 Jan; 84(1):363-6. PubMed ID: 9920108
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  • 5. A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor.
    Pearce SH, Williamson C, Kifor O, Bai M, Coulthard MG, Davies M, Lewis-Barned N, McCredie D, Powell H, Kendall-Taylor P, Brown EM, Thakker RV.
    N Engl J Med; 1996 Oct 10; 335(15):1115-22. PubMed ID: 8813042
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  • 6. Autosomal dominant hypocalcaemia caused by a Ca(2+)-sensing receptor gene mutation.
    Pollak MR, Brown EM, Estep HL, McLaine PN, Kifor O, Park J, Hebert SC, Seidman CE, Seidman JG.
    Nat Genet; 1994 Nov 10; 8(3):303-7. PubMed ID: 7874174
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  • 7. Familial hypoparathyroidism: identification of a novel gain of function mutation in transmembrane domain 5 of the calcium-sensing receptor.
    Watanabe T, Bai M, Lane CR, Matsumoto S, Minamitani K, Minagawa M, Niimi H, Brown EM, Yasuda T.
    J Clin Endocrinol Metab; 1998 Jul 10; 83(7):2497-502. PubMed ID: 9661634
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  • 11. Identification and characterization of D410E, a novel mutation in the loop 3 domain of CASR, in autosomal dominant hypocalcemia and a therapeutic approach using a novel calcilytic, AXT914.
    Park SY, Mun HC, Eom YS, Baek HL, Jung TS, Kim CH, Hong S, Lee S.
    Clin Endocrinol (Oxf); 2013 May 10; 78(5):687-93. PubMed ID: 23009664
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  • 12. Absence of pathogenic calcium sensing receptor mutations in sporadic idiopathic hypoparathyroidism.
    Sarin R, Tomar N, Ray D, Gupta N, Sharma YD, Goswami R.
    Clin Endocrinol (Oxf); 2006 Sep 10; 65(3):359-63. PubMed ID: 16918956
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  • 13. Glial cells missing-2 (GCM2) transactivates the calcium-sensing receptor gene: effect of a dominant-negative GCM2 mutant associated with autosomal dominant hypoparathyroidism.
    Canaff L, Zhou X, Mosesova I, Cole DE, Hendy GN.
    Hum Mutat; 2009 Jan 10; 30(1):85-92. PubMed ID: 18712808
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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 10; 113(1):31-4. PubMed ID: 15662592
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  • 15. 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 10; 24(2):107-11. PubMed ID: 15241791
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  • 17. 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 10; 17(12):2174-82. PubMed ID: 12469911
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  • 19. A large homozygous or heterozygous in-frame deletion within the calcium-sensing receptor's carboxylterminal cytoplasmic tail that causes autosomal dominant hypocalcemia.
    Lienhardt A, Garabédian M, Bai M, Sinding C, Zhang Z, Lagarde JP, Boulesteix J, Rigaud M, Brown EM, Kottler ML.
    J Clin Endocrinol Metab; 2000 Apr 10; 85(4):1695-702. PubMed ID: 10770217
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