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Journal Abstract Search

353 related items for PubMed ID: 12173690

  • 21.
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  • 22. 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
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  • 25. Diseases associated with the extracellular calcium-sensing receptor.
    Thakker RV.
    Cell Calcium; 2004 Mar 15; 35(3):275-82. PubMed ID: 15200151
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  • 26. Extracellular calcium sensing receptor: an overview of physiology, pathophysiology and clinical perspectives.
    Msaouel P, Nixon AM, Bramos AP, Baiba E, Kentarchos NE.
    In Vivo; 2004 Mar 15; 18(6):739-53. PubMed ID: 15646815
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  • 31. 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
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  • 32. 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
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  • 34. G-protein-coupled, extracellular Ca(2+)-sensing receptor: a versatile regulator of diverse cellular functions.
    Brown EM, Vassilev PM, Quinn S, Hebert SC.
    Vitam Horm; 1999 May 15; 55():1-71. PubMed ID: 9949679
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  • 35. [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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  • 38. 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 14; 71(4):591-8. PubMed ID: 11136551
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  • 39. GENETICS IN ENDOCRINOLOGY: Gain and loss of function mutations of the calcium-sensing receptor and associated proteins: current treatment concepts.
    Mayr B, Schnabel D, Dörr HG, Schöfl C.
    Eur J Endocrinol; 2016 May 14; 174(5):R189-208. PubMed ID: 26646938
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