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Journal Abstract Search

487 related items for PubMed ID: 7493018

  • 1. A mouse model of human familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism.
    Ho C, Conner DA, Pollak MR, Ladd DJ, Kifor O, Warren HB, Brown EM, Seidman JG, Seidman CE.
    Nat Genet; 1995 Dec; 11(4):389-94. PubMed ID: 7493018
    [Abstract] [Full Text] [Related]

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

  • 4. 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]

  • 5. [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]

  • 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. Clinical disorders of extracellular calcium-sensing and the molecular biology of the calcium-sensing receptor.
    Pearce SH.
    Ann Med; 2002 Apr 15; 34(3):201-6. PubMed ID: 12173690
    [Abstract] [Full Text] [Related]

  • 8. 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 15; 96(6):2683-92. PubMed ID: 8675635
    [Abstract] [Full Text] [Related]

  • 9. Severe primary hyperparathyroidism in a neonate with two hypercalcemic parents: management with parathyroidectomy and heterotopic autotransplantation.
    Cooper L, Wertheimer J, Levey R, Brown E, Leboff M, Wilkinson R, Anast CS.
    Pediatrics; 1986 Aug 15; 78(2):263-8. PubMed ID: 3737302
    [Abstract] [Full Text] [Related]

  • 10. 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 15; 18(5):411-21. PubMed ID: 11668634
    [Abstract] [Full Text] [Related]

  • 11. Neonatal hypercalcemia.
    Rodríguez Soriano J.
    J Nephrol; 2003 Nov 15; 16(4):606-8. PubMed ID: 14696768
    [Abstract] [Full Text] [Related]

  • 12. Familial hypocalciuric hypercalcemia involving four members of a kindred including a girl with severe neonatal primary hyperparathyroidism.
    Fujita T, Watanabe N, Fukase M, Tsutsumi M, Fukami T, Imai Y, Sakaguchi K, Okada S, Matsuo M, Takemine H.
    Miner Electrolyte Metab; 1983 Nov 15; 9(1):51-4. PubMed ID: 6843519
    [Abstract] [Full Text] [Related]

  • 13. Familial hypocalciuric hypercalcemia: the relation to primary parathyroid hyperplasia.
    Marx SJ, Spiegel AM, Levine MA, Rizzoli RE, Lasker RD, Santora AC, Downs RW, Aurbach GD.
    N Engl J Med; 1982 Aug 12; 307(7):416-26. PubMed ID: 7045673
    [No Abstract] [Full Text] [Related]

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  • 15. Physiological studies in heterozygous calcium sensing receptor (CaSR) gene-ablated mice confirm that the CaSR regulates calcitonin release in vivo.
    Fudge NJ, Kovacs CS.
    BMC Physiol; 2004 Apr 20; 4():5. PubMed ID: 15099400
    [Abstract] [Full Text] [Related]

  • 16. [Severe neonatal hyperparathyroidism in a family with familial hypocalciuric hypercalcemia].
    Friis IM, Larsen NE, Lillquist K, Schwarz P.
    Ugeskr Laeger; 2000 Aug 14; 162(33):4402-3. PubMed ID: 10962966
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  • 19. Familial benign hypocalciuric hypercalcemia.
    Fuleihan Gel-H.
    J Bone Miner Res; 2002 Nov 14; 17 Suppl 2():N51-6. PubMed ID: 12412778
    [Abstract] [Full Text] [Related]

  • 20. Calcium-sensing receptor dimerizes in the endoplasmic reticulum: biochemical and biophysical characterization of CASR mutants retained intracellularly.
    Pidasheva S, Grant M, Canaff L, Ercan O, Kumar U, Hendy GN.
    Hum Mol Genet; 2006 Jul 15; 15(14):2200-9. PubMed ID: 16740594
    [Abstract] [Full Text] [Related]

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