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Journal Abstract Search

288 related items for PubMed ID: 16649980

  • 1. Novel mutations in the calcium-sensing receptor gene associated with biochemical and functional differences in familial hypocalciuric hypercalcaemia.
    Ward BK, Magno AL, Blitvich BJ, Rea AJ, Stuckey BG, Walsh JP, Ratajczak T.
    Clin Endocrinol (Oxf); 2006 May; 64(5):580-7. PubMed ID: 16649980
    [Abstract] [Full Text] [Related]

  • 2. 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; 17(12):2174-82. PubMed ID: 12469911
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  • 3. 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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  • 4. Two Italian kindreds with familial hypocalciuric hypercalcaemia caused by loss-of-function mutations in the calcium-sensing receptor (CaR) gene: functional characterization of a novel CaR missense mutation.
    Cetani F, Pardi E, Borsari S, Tonacchera M, Morabito E, Pinchera A, Marcocci C, Dipollina G.
    Clin Endocrinol (Oxf); 2003 Feb 15; 58(2):199-206. PubMed ID: 12580936
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  • 7. 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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  • 8. 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 29; 113(1):31-4. PubMed ID: 15662592
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  • 9. Autosomal dominant hypocalcemia in monozygotic twins caused by a de novo germline mutation near the amino-terminus of the human calcium receptor.
    Hu J, Mora S, Weber G, Zamproni I, Proverbio MC, Spiegel AM.
    J Bone Miner Res; 2004 Apr 29; 19(4):578-86. PubMed ID: 15005845
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  • 11. Discriminative power of three indices of renal calcium excretion for the distinction between familial hypocalciuric hypercalcaemia and primary hyperparathyroidism: a follow-up study on methods.
    Christensen SE, Nissen PH, Vestergaard P, Heickendorff L, Brixen K, Mosekilde L.
    Clin Endocrinol (Oxf); 2008 Nov 29; 69(5):713-20. PubMed ID: 18410554
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  • 12. Two novel mutations of the calcium-sensing receptor gene affecting the same amino acid position lead to opposite phenotypes and reveal the importance of p.N802 on receptor activity.
    Lia-Baldini AS, Magdelaine C, Nizou A, Airault C, Salles JP, Moulin P, Delemer B, Aitouares M, Funalot B, Sturtz F, Lienhardt-Roussie A.
    Eur J Endocrinol; 2013 Feb 29; 168(2):K27-34. PubMed ID: 23169696
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  • 13. 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 29; 42(4):331-9. PubMed ID: 19179454
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  • 14. Calcium-sensing receptor mutations in familial hypocalciuric hypercalcaemia with recurrent pancreatitis.
    Pearce SH, Wooding C, Davies M, Tollefsen SE, Whyte MP, Thakker RV.
    Clin Endocrinol (Oxf); 1996 Dec 29; 45(6):675-80. PubMed ID: 9039332
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  • 15. [Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism caused by inactivating mutations of calcium-sensing receptor].
    Watanabe S, Fukumoto S.
    Nihon Rinsho; 2002 Feb 29; 60(2):325-30. PubMed ID: 11857921
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  • 16. 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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  • 17. Familial hypercalcemia and hypercalciuria caused by a novel mutation in the cytoplasmic tail of the calcium receptor.
    Carling T, Szabo E, Bai M, Ridefelt P, Westin G, Gustavsson P, Trivedi S, Hellman P, Brown EM, Dahl N, Rastad J.
    J Clin Endocrinol Metab; 2000 May 15; 85(5):2042-7. PubMed ID: 10843194
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  • 18. Calcium metabolism and endocrine functions in a family with familial hypocalciuric hypercalcemia.
    Speer G, Tóth M, Niller HH, Salamon D, Takács I, Miheller P, Patócs A, Nagy Z, Bajnok E, Nyiri P, Lakatos P.
    Exp Clin Endocrinol Diabetes; 2003 Dec 15; 111(8):486-90. PubMed ID: 14714270
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  • 19. Autosomal dominant hypocalcaemia caused by a Ca(2+)-sensing receptor gene mutation.
    Pollak MR, Brown EM, Estep HL, McLaine PN, Kifor O, Park J, Hebert SC, Seidman CE, Seidman JG.
    Nat Genet; 1994 Nov 15; 8(3):303-7. PubMed ID: 7874174
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  • 20. 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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