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Journal Abstract Search

138 related items for PubMed ID: 11136551

  • 1. 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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  • 4. 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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  • 6. 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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  • 8. 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; 30(1):85-92. PubMed ID: 18712808
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  • 10. A family of autosomal dominant hypocalcemia with a positive correlation between serum calcium and magnesium: identification of a novel gain of function mutation (Ser(820)Phe) in the calcium-sensing receptor.
    Nagase T, Murakami T, Tsukada T, Kitamura R, Chikatsu N, Takeo H, Takata N, Yasuda H, Fukumoto S, Tanaka Y, Nagata N, Yamaguchi K, Akatsu T, Yamamoto M.
    J Clin Endocrinol Metab; 2002 Jun; 87(6):2681-7. PubMed ID: 12050233
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  • 11. 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; 24(2):107-11. PubMed ID: 15241791
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  • 12. Autosomal dominant hypocalcemia caused by a novel mutation in the loop 2 region of the human calcium receptor extracellular domain.
    Hu J, Mora S, Colussi G, Proverbio MC, Jones KA, Bolzoni L, De Ferrari ME, Civati G, Spiegel AM.
    J Bone Miner Res; 2002 Aug; 17(8):1461-9. PubMed ID: 12162500
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  • 14. Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism.
    Pearce SH, Trump D, Wooding C, Besser GM, Chew SL, Grant DB, Heath DA, Hughes IA, Paterson CR, Whyte MP.
    J Clin Invest; 1995 Dec; 96(6):2683-92. PubMed ID: 8675635
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  • 15. 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; 78(5):687-93. PubMed ID: 23009664
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  • 17. 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; 85(4):1695-702. PubMed ID: 10770217
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  • 18. Autosomal dominant hypocalcemia with mild type 5 Bartter syndrome.
    Vezzoli G, Arcidiacono T, Paloschi V, Terranegra A, Biasion R, Weber G, Mora S, Syren ML, Coviello D, Cusi D, Bianchi G, Soldati L.
    J Nephrol; 2006 Apr; 19(4):525-8. PubMed ID: 17048213
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  • 19. 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
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