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Journal Abstract Search

262 related items for PubMed ID: 10885494

  • 1. 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; 60(3):221-7. PubMed ID: 10885494
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  • 2. [Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism caused by inactivating mutations of calcium-sensing receptor].
    Watanabe S, Fukumoto S.
    Nihon Rinsho; 2002 Feb; 60(2):325-30. PubMed ID: 11857921
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  • 4. 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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  • 5. 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
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  • 9. 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
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  • 10. A novel mutation in Ca2+-sensing receptor gene in familial hypocalciuric hypercalcemia.
    Nakayama T, Minato M, Nakagawa M, Soma M, Tobe H, Aoi N, Kosuge K, Sato M, Ozawa Y, Kanmatsuse K, Kokubun S.
    Endocrine; 2001 Aug 15; 15(3):277-82. PubMed ID: 11762699
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  • 12. 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
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  • 14. Novel mutation of the calcium sensing receptor gene in familial hypocalciuric hypercalcaemia and neonatal severe hyperparathyroidism.
    de Andrade SC, Kohara SK, D'Souza-Li L.
    Clin Endocrinol (Oxf); 2006 Dec 15; 65(6):826-7. PubMed ID: 17121537
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  • 15. Insertion of an Alu sequence in the Ca(2+)-sensing receptor gene in familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism.
    Janicic N, Pausova Z, Cole DE, Hendy GN.
    Am J Hum Genet; 1995 Apr 15; 56(4):880-6. PubMed ID: 7717399
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  • 16. A novel mutation (L174R) in the Ca2+-sensing receptor gene associated with familial hypocalciuric hypercalcemia.
    Ward BK, Stuckey BG, Gutteridge DH, Laing NG, Pullan PT, Ratajczak T.
    Hum Mutat; 1997 Apr 15; 10(3):233-5. PubMed ID: 9298824
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  • 17. Mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism.
    Pollak MR, Brown EM, Chou YH, Hebert SC, Marx SJ, Steinmann B, Levi T, Seidman CE, Seidman JG.
    Cell; 1993 Dec 31; 75(7):1297-303. PubMed ID: 7916660
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  • 18. Functional characterization of calcium-sensing receptor codon 227 mutations presenting as either familial (benign) hypocalciuric hypercalcemia or neonatal hyperparathyroidism.
    Wystrychowski A, Pidasheva S, Canaff L, Chudek J, Kokot F, Wiecek A, Hendy GN.
    J Clin Endocrinol Metab; 2005 Feb 31; 90(2):864-70. PubMed ID: 15572418
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  • 19. [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 31; 74(1):47-50. PubMed ID: 21185797
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