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Journal Abstract Search

175 related items for PubMed ID: 28938448

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. Glial cells missing-2 (GCM2) transactivates the calcium-sensing receptor gene: effect of a dominant-negative GCM2 mutant associated with autosomal dominant hypoparathyroidism.
    Canaff L, Zhou X, Mosesova I, Cole DE, Hendy GN.
    Hum Mutat; 2009 Jan 01; 30(1):85-92. PubMed ID: 18712808
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  • 3. Novel Glial Cells Missing-2 (GCM2) variants in parathyroid disorders.
    Canaff L, Guarnieri V, Kim Y, Wong BYL, Nolin-Lapalme A, Cole DEC, Minisola S, Eller-Vainicher C, Cetani F, Repaci A, Turchetti D, Corbetta S, Scillitani A, Goltzman D.
    Eur J Endocrinol; 2022 Feb 04; 186(3):351-366. PubMed ID: 35038313
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  • 4. Dominant-negative GCMB mutations cause an autosomal dominant form of hypoparathyroidism.
    Mannstadt M, Bertrand G, Muresan M, Weryha G, Leheup B, Pulusani SR, Grandchamp B, Jüppner H, Silve C.
    J Clin Endocrinol Metab; 2008 Sep 04; 93(9):3568-76. PubMed ID: 18583467
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  • 5. A novel mutation of the signal peptide of the preproparathyroid hormone gene associated with autosomal recessive familial isolated hypoparathyroidism.
    Sunthornthepvarakul T, Churesigaew S, Ngowngarmratana S.
    J Clin Endocrinol Metab; 1999 Oct 04; 84(10):3792-6. PubMed ID: 10523031
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  • 6. Mutation of the signal peptide-encoding region of the preproparathyroid hormone gene in familial isolated hypoparathyroidism.
    Arnold A, Horst SA, Gardella TJ, Baba H, Levine MA, Kronenberg HM.
    J Clin Invest; 1990 Oct 04; 86(4):1084-7. PubMed ID: 2212001
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  • 20. A donor splice site mutation in the parathyroid hormone gene is associated with autosomal recessive hypoparathyroidism.
    Parkinson DB, Thakker RV.
    Nat Genet; 1992 May 04; 1(2):149-52. PubMed ID: 1302009
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