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Journal Abstract Search

193 related items for PubMed ID: 29846619

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  • 3. 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; 174(4):K1-K11. PubMed ID: 26764418
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  • 6. Autosomal Dominant PTH Gene Signal Sequence Mutation in a Family With Familial Isolated Hypoparathyroidism.
    Cinque L, Sparaneo A, Penta L, Mencarelli A, Rogaia D, Esposito S, Fabrizio FP, Baorda F, Verrotti A, Falorni A, Stangoni G, Hendy GN, Guarnieri V, Prontera P.
    J Clin Endocrinol Metab; 2017 Nov 01; 102(11):3961-3969. PubMed ID: 28938448
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  • 11. 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 01; 63(6):481-6. PubMed ID: 15960151
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  • 13. 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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  • 14. 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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  • 15. A novel mutation in the calcium-sensing receptor responsible for autosomal dominant hypocalcemia in a family with two uncommon parathyroid hormone polymorphisms.
    Alvarez-Hernández D, Santamaría I, Rodríguez-García M, Iglesias P, Delgado-Lillo R, Cannata-Andía JB.
    J Mol Endocrinol; 2003 Oct 15; 31(2):255-62. PubMed ID: 14519094
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  • 16. 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 15; 50(1):91-6. PubMed ID: 12733714
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  • 17. Identification of a G-Protein Subunit-α11 Gain-of-Function Mutation, Val340Met, in a Family With Autosomal Dominant Hypocalcemia Type 2 (ADH2).
    Piret SE, Gorvin CM, Pagnamenta AT, Howles SA, Cranston T, Rust N, Nesbit MA, Glaser B, Taylor JC, Buchs AE, Hannan FM, Thakker RV.
    J Bone Miner Res; 2016 Jun 15; 31(6):1207-14. PubMed ID: 26818911
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  • 19. Novel gain of function mutations of the calcium-sensing receptor in two patients with PTH-deficient hypocalcemia.
    Nakajima K, Yamazaki K, Kimura H, Takano K, Miyoshi H, Sato K.
    Intern Med; 2009 Jun 15; 48(22):1951-6. PubMed ID: 19915295
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