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Journal Abstract Search

216 related items for PubMed ID: 25039540

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  • 23. Calcium-sensing receptor residues with loss- and gain-of-function mutations are located in regions of conformational change and cause signalling bias.
    Gorvin CM, Frost M, Malinauskas T, Cranston T, Boon H, Siebold C, Jones EY, Hannan FM, Thakker RV.
    Hum Mol Genet; 2018 Nov 01; 27(21):3720-3733. PubMed ID: 30052933
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  • 24. Four cases of autosomal dominant hypocalcaemia with hypercalciuria including two with novel mutations in the calcium-sensing receptor gene.
    Schouten BJ, Raizis AM, Soule SG, Cole DR, Frengley PA, George PM, Florkowski CM.
    Ann Clin Biochem; 2011 May 01; 48(Pt 3):286-90. PubMed ID: 21441391
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  • 27. 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 01; 25(2):317-20. PubMed ID: 20119591
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  • 31. Autosomal dominant hypercalciuric hypocalcaemia: the calcium-sensing receptor in renal calcium homeostasis and the impact of renal transplantation.
    Florance JA, Schollum JBW, Pomeranc A, Endre ZH, Walker RJ.
    Intern Med J; 2024 Jun 01; 54(6):852-860. PubMed ID: 38665051
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  • 32. The Youngest Infant to Be Diagnosed with Autosomal Dominant Hypocalcemia Type 2 Harboring a Novel Variant of GNA11: A Case Study and Literature Review.
    Kwon EJ, Kim MS, Noh ES, Kim CW, Jang J, Choi JH, Cho SY, Jin DK.
    Ann Clin Lab Sci; 2022 May 01; 52(3):494-498. PubMed ID: 35777808
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  • 34. Phenotypic variation in a large family with autosomal dominant hypocalcaemia.
    Sørheim JI, Husebye ES, Nedrebø BG, Svarstad E, Lind J, Boman H, Løvås K.
    Horm Res Paediatr; 2010 May 01; 74(6):399-405. PubMed ID: 20501971
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  • 37. 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 May 01; 19(1):e24-8. PubMed ID: 23186954
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  • 40. Persistent hypocalcaemia in a Chinese girl due to a novel de-novo activating mutation of the calcium-sensing receptor gene.
    Wong WC, Lam CW, Tong SF, Tong CT.
    Hong Kong Med J; 2011 Apr 01; 17(2):157-60. PubMed ID: 21471599
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