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Journal Abstract Search

474 related items for PubMed ID: 15662592

  • 1. Identification of a novel calcium-sensing receptor gene mutation causing familial hypocalciuric hypercalcemia by single-strand conformation polymorphism analysis.
    Felderbauer P, Hoffmann P, Klein W, Bulut K, Ansorge N, Epplen JT, Schmitz F, Schmidt WE.
    Exp Clin Endocrinol Diabetes; 2005 Jan; 113(1):31-4. PubMed ID: 15662592
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  • 2. 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
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  • 3. CASRdb: calcium-sensing receptor locus-specific database for mutations causing familial (benign) hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia.
    Pidasheva S, D'Souza-Li L, Canaff L, Cole DE, Hendy GN.
    Hum Mutat; 2004 Aug; 24(2):107-11. PubMed ID: 15241791
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  • 4. Mutations in the calcium-sensing receptor: a new genetic risk factor for chronic pancreatitis?
    Felderbauer P, Klein W, Bulut K, Ansorge N, Dekomien G, Werner I, Epplen JT, Schmitz F, Schmidt WE.
    Scand J Gastroenterol; 2006 Mar; 41(3):343-8. PubMed ID: 16497624
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  • 5. 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; 18(5):411-21. PubMed ID: 11668634
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  • 6. A novel mutation of the calcium sensing receptor gene is associated with chronic pancreatitis in a family with heterozygous SPINK1 mutations.
    Felderbauer P, Hoffmann P, Einwächter H, Bulut K, Ansorge N, Schmitz F, Schmidt WE.
    BMC Gastroenterol; 2003 Nov 29; 3():34. PubMed ID: 14641934
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  • 7. 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 29; 27(3):359-71. PubMed ID: 23856265
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  • 8. 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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  • 10. Identification and functional characterization of novel calcium-sensing receptor mutations in familial hypocalciuric hypercalcemia and autosomal dominant hypocalcemia.
    D'Souza-Li L, Yang B, Canaff L, Bai M, Hanley DA, Bastepe M, Salisbury SR, Brown EM, Cole DE, Hendy GN.
    J Clin Endocrinol Metab; 2002 Mar 15; 87(3):1309-18. PubMed ID: 11889203
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  • 11. Calcium-sensing receptor mutations and denaturing high performance liquid chromatography.
    Cole DE, Yun FH, Wong BY, Shuen AY, Booth RA, Scillitani A, Pidasheva S, Zhou X, Canaff L, Hendy GN.
    J Mol Endocrinol; 2009 Apr 15; 42(4):331-9. PubMed ID: 19179454
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  • 13. Identification and functional characterization of a novel mutation in the calcium-sensing receptor gene in familial hypocalciuric hypercalcemia: modulation of clinical severity by vitamin D status.
    Zajickova K, Vrbikova J, Canaff L, Pawelek PD, Goltzman D, Hendy GN.
    J Clin Endocrinol Metab; 2007 Jul 15; 92(7):2616-23. PubMed ID: 17473068
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  • 14. [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 15; 74(1):47-50. PubMed ID: 21185797
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