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Journal Abstract Search

166 related items for PubMed ID: 34160437

  • 1. 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
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  • 5. Autosomal Dominant Hypocalcemia Type 1: A Systematic Review.
    Roszko KL, Stapleton Smith LM, Sridhar AV, Roberts MS, Hartley IR, Gafni RI, Collins MT, Fox JC, Nemeth EF.
    J Bone Miner Res; 2022 Oct 25; 37(10):1926-1935. PubMed ID: 35879818
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  • 6. Novel Calcium-Sensing Receptor (CASR) Mutation in a Family with Autosomal Dominant Hypocalcemia Type 1 (ADH1): Genetic Study over Three Generations and Clinical Characteristics.
    Zung A, Barash G, Banne E, Levine MA.
    Horm Res Paediatr; 2023 Oct 25; 96(5):473-482. PubMed ID: 36812896
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  • 8. CASR gene activating mutations in two families with autosomal dominant hypocalcemia.
    Guarnieri V, Valentina D'Elia A, Baorda F, Pazienza V, Benegiamo G, Stanziale P, Copetti M, Battista C, Grimaldi F, Damante G, Pellegrini F, D'Agruma L, Zelante L, Carella M, Scillitani A.
    Mol Genet Metab; 2012 Nov 25; 107(3):548-52. PubMed ID: 22789683
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  • 10. 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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  • 12. Calcilytic Ameliorates Abnormalities of Mutant Calcium-Sensing Receptor (CaSR) Knock-In Mice Mimicking Autosomal Dominant Hypocalcemia (ADH).
    Dong B, Endo I, Ohnishi Y, Kondo T, Hasegawa T, Amizuka N, Kiyonari H, Shioi G, Abe M, Fukumoto S, Matsumoto T.
    J Bone Miner Res; 2015 Nov 15; 30(11):1980-93. PubMed ID: 25967373
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  • 13. 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 15; 174(4):K1-K11. PubMed ID: 26764418
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  • 16. 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 15; 103(11):1117-25. PubMed ID: 25039540
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  • 18. 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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