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Journal Abstract Search

245 related items for PubMed ID: 11701698

  • 21. Autosomal dominant hypocalcemia caused by an activating mutation of the calcium-sensing receptor gene: the first case report in Korea.
    Kim MY, Tan AH, Ki CS, Lee JI, Jang HW, Shin HW, Kim SW, Min YK, Lee MS, Lee MK, Kim KW, Chung JH.
    J Korean Med Sci; 2010 Feb; 25(2):317-20. PubMed ID: 20119591
    [Abstract] [Full Text] [Related]

  • 22. Impaired growth and intracranial calcifications in autosomal dominant hypocalcemia caused by a GNA11 mutation.
    Tenhola S, Voutilainen R, Reyes M, Toiviainen-Salo S, Jüppner H, Mäkitie O.
    Eur J Endocrinol; 2016 Sep; 175(3):211-8. PubMed ID: 27334330
    [Abstract] [Full Text] [Related]

  • 23. 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]

  • 24. A family of autosomal dominant hypocalcemia with an activating mutation of calcium-sensing receptor gene.
    Chikatsu N, Watanabe S, Takeuchi Y, Muraosa Y, Sasaki S, Oka Y, Fukumoto S, Fujita T.
    Endocr J; 2003 Feb; 50(1):91-6. PubMed ID: 12733714
    [Abstract] [Full Text] [Related]

  • 25. Recombinant human parathyroid hormone therapy (1-34) in an adult patient with a gain-of-function mutation in the calcium-sensing receptor-a case report.
    Gonzales MC, Lieb DC, Richardson DW, O'Brian JT, Aloi JA, Khardori RK.
    Endocr Pract; 2013 Feb; 19(1):e24-8. PubMed ID: 23186954
    [Abstract] [Full Text] [Related]

  • 26. A case of gain-of-function mutation in calcium-sensing receptor: supplemental hydration is required for renal protection.
    Suzuki M, Aso T, Sato T, Michimata M, Kazama I, Saiki H, Hatano R, Ejima Y, Miyama N, Sato A, Matsubara M.
    Clin Nephrol; 2005 Jun; 63(6):481-6. PubMed ID: 15960151
    [Abstract] [Full Text] [Related]

  • 27. Successful pregnancy outcome in a woman with a gain-of-function mutation of the calcium-sensing receptor. A case report.
    Gherman RB, Bowen E, Eggleston MK, Teague KE, Sayles T, Brown EM, Pollak MR.
    J Reprod Med; 1999 Aug; 44(8):745-7. PubMed ID: 10483549
    [Abstract] [Full Text] [Related]

  • 28. 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; 19(4):578-86. PubMed ID: 15005845
    [Abstract] [Full Text] [Related]

  • 29. A novel activating mutation (C129S) in the calcium-sensing receptor gene in a Japanese family with autosomal dominant hypocalcemia.
    Hirai H, Nakajima S, Miyauchi A, Nishimura K, Shimizu N, Shima M, Michigami T, Ozono K, Okada S.
    J Hum Genet; 2001 Apr; 46(1):41-4. PubMed ID: 11289719
    [Abstract] [Full Text] [Related]

  • 30. Autosomal dominant hypocalcemia due to a truncation in the C-tail of the calcium-sensing receptor.
    Maruca K, Brambilla I, Mingione A, Bassi L, Capelli S, Brasacchio C, Soldati L, Cisternino M, Mora S.
    Mol Cell Endocrinol; 2017 Jan 05; 439():187-193. PubMed ID: 27561204
    [Abstract] [Full Text] [Related]

  • 31. Autosomal dominant hypocalcemia: a novel activating mutation (E604K) in the cysteine-rich domain of the calcium-sensing receptor.
    Tan YM, Cardinal J, Franks AH, Mun HC, Lewis N, Harris LB, Prins JB, Conigrave AD.
    J Clin Endocrinol Metab; 2003 Feb 05; 88(2):605-10. PubMed ID: 12574188
    [Abstract] [Full Text] [Related]

  • 32. Three novel activating mutations in the calcium-sensing receptor responsible for autosomal dominant hypocalcemia.
    Conley YP, Finegold DN, Peters DG, Cook JS, Oppenheim DS, Ferrell RE.
    Mol Genet Metab; 2000 Dec 05; 71(4):591-8. PubMed ID: 11136551
    [Abstract] [Full Text] [Related]

  • 33. Activating calcium-sensing receptor gene variants in children: a case study of infant hypocalcaemia and literature review.
    Thim SB, Birkebaek NH, Nissen PH, Høst C.
    Acta Paediatr; 2014 Nov 05; 103(11):1117-25. PubMed ID: 25039540
    [Abstract] [Full Text] [Related]

  • 34. Treatment of hypocalcemia caused by hypoparathyroidism or pseudohypoparathyroidism with domestic-made calcitriol: a prospective and self-controlled clinical trial.
    Wang O, Xing XP, Meng XW, Xia WB, Li M, Jiang Y, Hu YY, Liu HC.
    Chin Med J (Engl); 2009 Feb 05; 122(3):279-83. PubMed ID: 19236804
    [Abstract] [Full Text] [Related]

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  • 36. Identification of p.Arg205Cys in CASR in an autosomal dominant hypocalcaemia type 1 pedigree: A case report.
    Ji Y, Kang C, Chen J, Zhang L.
    Medicine (Baltimore); 2021 Jun 25; 100(25):e26443. PubMed ID: 34160437
    [Abstract] [Full Text] [Related]

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  • 38. A family with autosomal dominant hypocalcaemia with hypercalciuria (ADHH): mutational analysis, phenotypic variability and treatment challenges.
    Burren CP, Curley A, Christie P, Rodda CP, Thakker RV.
    J Pediatr Endocrinol Metab; 2005 Jul 25; 18(7):689-99. PubMed ID: 16128246
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  • 40. Differential parathyroid and kidney Ca2+-sensing receptor activation in autosomal dominant hypocalcemia 1.
    van Megen WH, Tan RSG, Alexander RT, Dimke H.
    EBioMedicine; 2022 Apr 25; 78():103947. PubMed ID: 35313217
    [Abstract] [Full Text] [Related]

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