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486 related items for PubMed ID: 12469911

  • 1. 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]

  • 2.
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  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. 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; 64(5):580-7. PubMed ID: 16649980
    [Abstract] [Full Text] [Related]

  • 5. 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
    [Abstract] [Full Text] [Related]

  • 6. 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 15; 99(8):1917-25. PubMed ID: 9109436
    [Abstract] [Full Text] [Related]

  • 7. 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 15; 16(4):281-96. PubMed ID: 11013439
    [Abstract] [Full Text] [Related]

  • 8. [Familial hypocalciuric hypercalcemia: a new mutation].
    Ubetagoyena Arrieta M, Castaño González L, Pérez de Nanclares Leal G, Arruebarrena Lizarraga D, Imaz Murguiondo M, Areses Trapote R.
    An Pediatr (Barc); 2011 Jan 15; 74(1):47-50. PubMed ID: 21185797
    [Abstract] [Full Text] [Related]

  • 9. Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism associated with mutations in the human Ca2+-sensing receptor gene in three Danish families.
    Schwarz P, Larsen NE, Lønborg Friis IM, Lillquist K, Brown EM, Gammeltoft S.
    Scand J Clin Lab Invest; 2000 May 15; 60(3):221-7. PubMed ID: 10885494
    [Abstract] [Full Text] [Related]

  • 10. Impaired cotranslational processing of the calcium-sensing receptor due to signal peptide missense mutations in familial hypocalciuric hypercalcemia.
    Pidasheva S, Canaff L, Simonds WF, Marx SJ, Hendy GN.
    Hum Mol Genet; 2005 Jun 15; 14(12):1679-90. PubMed ID: 15879434
    [Abstract] [Full Text] [Related]

  • 11. 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 15; 85(5):2042-7. PubMed ID: 10843194
    [Abstract] [Full Text] [Related]

  • 12. [Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism caused by inactivating mutations of calcium-sensing receptor].
    Watanabe S, Fukumoto S.
    Nihon Rinsho; 2002 Feb 15; 60(2):325-30. PubMed ID: 11857921
    [Abstract] [Full Text] [Related]

  • 13. Identification and functional characterization of a novel mutation in the calcium-sensing receptor gene in familial hypocalciuric hypercalcemia: modulation of clinical severity by vitamin D status.
    Zajickova K, Vrbikova J, Canaff L, Pawelek PD, Goltzman D, Hendy GN.
    J Clin Endocrinol Metab; 2007 Jul 15; 92(7):2616-23. PubMed ID: 17473068
    [Abstract] [Full Text] [Related]

  • 14. In vivo and in vitro characterization of neonatal hyperparathyroidism resulting from a de novo, heterozygous mutation in the Ca2+-sensing receptor gene: normal maternal calcium homeostasis as a cause of secondary hyperparathyroidism in familial benign hypocalciuric hypercalcemia.
    Bai M, Pearce SH, Kifor O, Trivedi S, Stauffer UG, Thakker RV, Brown EM, Steinmann B.
    J Clin Invest; 1997 Jan 01; 99(1):88-96. PubMed ID: 9011580
    [Abstract] [Full Text] [Related]

  • 15. The calcium-sensing receptor (CaR) permits Ca2+ to function as a versatile extracellular first messenger.
    Brown EM, Chattopadhyay N, Vassilev PM, Hebert SC.
    Recent Prog Horm Res; 1998 Jan 01; 53():257-80; discussion 280-1. PubMed ID: 9769711
    [Abstract] [Full Text] [Related]

  • 16. 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
    [Abstract] [Full Text] [Related]

  • 17. The pathophysiology of primary hyperparathyroidism.
    Brown EM.
    J Bone Miner Res; 2002 Nov 10; 17 Suppl 2():N24-9. PubMed ID: 12412774
    [Abstract] [Full Text] [Related]

  • 18. A patient with primary hyperparathyroidism associated with familial hypocalciuric hypercalcemia induced by a novel germline CaSR gene mutation.
    Yabuta T, Miyauchi A, Inoue H, Yoshida H, Hirokawa M, Amino N.
    Asian J Surg; 2009 Apr 10; 32(2):118-22. PubMed ID: 19423460
    [Abstract] [Full Text] [Related]

  • 19. Activating mutations of the Ca2+-sensing receptor.
    Mancilla EE, De Luca F, Baron J.
    Mol Genet Metab; 1998 Jul 10; 64(3):198-204. PubMed ID: 9719629
    [Abstract] [Full Text] [Related]

  • 20. [Hypocalciuric hypercalcemia due to de novo mutation of the calcium sensing receptor].
    Sarli M, Fradinger E, Zanchetta J.
    Medicina (B Aires); 2004 Jul 10; 64(4):337-9. PubMed ID: 15338977
    [Abstract] [Full Text] [Related]

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