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Journal Abstract Search

152 related items for PubMed ID: 8733126

  • 1. Mutations in the Ca(2+)-sensing receptor gene cause autosomal dominant and sporadic hypoparathyroidism.
    Baron J, Winer KK, Yanovski JA, Cunningham AW, Laue L, Zimmerman D, Cutler GB.
    Hum Mol Genet; 1996 May; 5(5):601-6. PubMed ID: 8733126
    [Abstract] [Full Text] [Related]

  • 2. 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
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  • 3. 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
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  • 4. Familial hypoparathyroidism: identification of a novel gain of function mutation in transmembrane domain 5 of the calcium-sensing receptor.
    Watanabe T, Bai M, Lane CR, Matsumoto S, Minamitani K, Minagawa M, Niimi H, Brown EM, Yasuda T.
    J Clin Endocrinol Metab; 1998 Jul 10; 83(7):2497-502. PubMed ID: 9661634
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  • 5. Sporadic hypoparathyroidism caused by de Novo gain-of-function mutations of the Ca(2+)-sensing receptor.
    De Luca F, Ray K, Mancilla EE, Fan GF, Winer KK, Gore P, Spiegel AM, Baron J.
    J Clin Endocrinol Metab; 1997 Aug 10; 82(8):2710-5. PubMed ID: 9253358
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  • 6. 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 10; 87(6):2681-7. PubMed ID: 12050233
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  • 7. The Ca(2+)-sensing receptor gene (PCAR1) mutation T151M in isolated autosomal dominant hypoparathyroidism.
    Løvlie R, Eiken HG, Sørheim JI, Boman H.
    Hum Genet; 1996 Aug 10; 98(2):129-33. PubMed ID: 8698326
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  • 8. Novel calcium-sensing receptor cytoplasmic tail deletion mutation causing autosomal dominant hypocalcemia: molecular and clinical study.
    Obermannova B, Sumnik Z, Dusatkova P, Cinek O, Grant M, Lebl J, Hendy GN.
    Eur J Endocrinol; 2016 Apr 10; 174(4):K1-K11. PubMed ID: 26764418
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  • 10. [Familial hypoparathyroidism due to activating mutations in the calcium-sensing receptor gene].
    Watanabe T, Minagawa M.
    Nihon Rinsho; 2002 Feb 10; 60(2):331-7. PubMed ID: 11857922
    [Abstract] [Full Text] [Related]

  • 11. Calcilytic Ameliorates Abnormalities of Mutant Calcium-Sensing Receptor (CaSR) Knock-In Mice Mimicking Autosomal Dominant Hypocalcemia (ADH).
    Dong B, Endo I, Ohnishi Y, Kondo T, Hasegawa T, Amizuka N, Kiyonari H, Shioi G, Abe M, Fukumoto S, Matsumoto T.
    J Bone Miner Res; 2015 Nov 10; 30(11):1980-93. PubMed ID: 25967373
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  • 12. Novel activating mutation of human calcium-sensing receptor in a family with autosomal dominant hypocalcaemia.
    Baran N, ter Braak M, Saffrich R, Woelfle J, Schmitz U.
    Mol Cell Endocrinol; 2015 May 15; 407():18-25. PubMed ID: 25766501
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  • 13. Absence of pathogenic calcium sensing receptor mutations in sporadic idiopathic hypoparathyroidism.
    Sarin R, Tomar N, Ray D, Gupta N, Sharma YD, Goswami R.
    Clin Endocrinol (Oxf); 2006 Sep 15; 65(3):359-63. PubMed ID: 16918956
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  • 14. Comparison of hypocalcemic hypercalciuria between patients with idiopathic hypoparathyroidism and those with gain-of-function mutations in the calcium-sensing receptor: is it possible to differentiate the two disorders?
    Yamamoto M, Akatsu T, Nagase T, Ogata E.
    J Clin Endocrinol Metab; 2000 Dec 15; 85(12):4583-91. PubMed ID: 11134112
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  • 16. Activating mutations of the calcium-sensing receptor: management of hypocalcemia.
    Lienhardt A, Bai M, Lagarde JP, Rigaud M, Zhang Z, Jiang Y, Kottler ML, Brown EM, Garabédian M.
    J Clin Endocrinol Metab; 2001 Nov 15; 86(11):5313-23. PubMed ID: 11701698
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  • 17. Familial hypocalciuric hypercalcemia associated with mutation in the human Ca(2+)-sensing receptor gene.
    Aida K, Koishi S, Inoue M, Nakazato M, Tawata M, Onaya T.
    J Clin Endocrinol Metab; 1995 Sep 15; 80(9):2594-8. PubMed ID: 7673400
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