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287 related items for PubMed ID: 22784463

  • 1. Clinical and genetic analysis of a compound heterozygous mutation in the thyroglobulin gene in a Chinese twin family with congenital goiter and hypothyroidism.
    Liu S, Zhang S, Li W, Zhang A, Qi F, Zheng G, Yan S, Ma X.
    Twin Res Hum Genet; 2012 Feb; 15(1):126-32. PubMed ID: 22784463
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  • 2. Recurrence of the p.R277X/p.R1511X compound heterozygous mutation in the thyroglobulin gene in unrelated families with congenital goiter and hypothyroidism: haplotype analysis using intragenic thyroglobulin polymorphisms.
    Caputo M, Rivolta CM, Gutnisky VJ, Gruñeiro-Papendieck L, Chiesa A, Medeiros-Neto G, González-Sarmiento R, Targovnik HM.
    J Endocrinol; 2007 Oct; 195(1):167-77. PubMed ID: 17911408
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  • 3. Molecular analysis of congenital goitres with hypothyroidism caused by defective thyroglobulin synthesis. Identification of a novel c.7006C>T [p.R2317X] mutation and expression of minigenes containing nonsense mutations in exon 7.
    Machiavelli GA, Caputo M, Rivolta CM, Olcese MC, Gruñeiro-Papendieck L, Chiesa A, González-Sarmiento R, Targovnik HM.
    Clin Endocrinol (Oxf); 2010 Jan; 72(1):112-21. PubMed ID: 19438905
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  • 4. Congenital hypothyroidism with goitre caused by new mutations in the thyroglobulin gene.
    Caputo M, Rivolta CM, Esperante SA, Gruñeiro-Papendieck L, Chiesa A, Pellizas CG, González-Sarmiento R, Targovnik HM.
    Clin Endocrinol (Oxf); 2007 Sep; 67(3):351-7. PubMed ID: 17532758
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  • 7. Genetics and phenomics of hypothyroidism and goiter due to thyroglobulin mutations.
    Targovnik HM, Esperante SA, Rivolta CM.
    Mol Cell Endocrinol; 2010 Jun 30; 322(1-2):44-55. PubMed ID: 20093166
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  • 13. Compound heterozygous mutations in the thyroglobulin gene (1143delC and 6725G-->A [R2223H]) resulting in fetal goitrous hypothyroidism.
    Caron P, Moya CM, Malet D, Gutnisky VJ, Chabardes B, Rivolta CM, Targovnik HM.
    J Clin Endocrinol Metab; 2003 Aug 30; 88(8):3546-53. PubMed ID: 12915634
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  • 15. Molecular basis of the thyroglobulin synthesis defect in Dutch goats.
    Veenboer GJ, de Vijlder JJ.
    Endocrinology; 1993 Jan 30; 132(1):377-81. PubMed ID: 8380383
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  • 16. A novel compound heterozygous mutation in the thyroglobulin gene resulting in congenital goitrous hypothyroidism with high serum triiodothyronine levels.
    Kitanaka S, Takeda A, Sato U, Miki Y, Hishinuma A, Ieiri T, Igarashi T.
    J Hum Genet; 2006 Jan 30; 51(4):379-382. PubMed ID: 16477365
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  • 17. Defective thyroglobulin synthesis and secretion causing goiter and hypothyroidism.
    Medeiros-Neto G, Targovnik HM, Vassart G.
    Endocr Rev; 1993 Apr 30; 14(2):165-83. PubMed ID: 8325250
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