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Journal Abstract Search

1135 related items for PubMed ID: 11013439

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  • 12. 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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  • 13. 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 15; 11(4):389-94. PubMed ID: 7493018
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  • 14. [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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  • 15. Calcium-sensing receptor (CaSR) mutations and disorders of calcium, electrolyte and water metabolism.
    Hannan FM, Thakker RV.
    Best Pract Res Clin Endocrinol Metab; 2013 Jun 14; 27(3):359-71. PubMed ID: 23856265
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  • 16. [Calcium-sensing receptor and its related diseases].
    Aida K, Tawata M, Onaya T.
    Nihon Rinsho; 1999 Mar 14; 57(3):746-55. PubMed ID: 10199162
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  • 17. 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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  • 18. 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 14; 17(12):2174-82. PubMed ID: 12469911
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  • 19. 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 14; 60(3):221-7. PubMed ID: 10885494
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  • 20. Activating mutations of the Ca2+-sensing receptor.
    Mancilla EE, De Luca F, Baron J.
    Mol Genet Metab; 1998 Jul 14; 64(3):198-204. PubMed ID: 9719629
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