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Journal Abstract Search

143 related items for PubMed ID: 8196172

  • 1. [Thyroglobulin (Tg) gene and familial Tg synthesis defect].
    Ieiri T.
    Nihon Rinsho; 1994 Apr; 52(4):869-74. PubMed ID: 8196172
    [Abstract] [Full Text] [Related]

  • 2. A 3' splice site mutation in the thyroglobulin gene responsible for congenital goiter with hypothyroidism.
    Ieiri T, Cochaux P, Targovnik HM, Suzuki M, Shimoda S, Perret J, Vassart G.
    J Clin Invest; 1991 Dec; 88(6):1901-5. PubMed ID: 1752952
    [Abstract] [Full Text] [Related]

  • 3. Defective thyroglobulin synthesis and secretion causing goiter and hypothyroidism.
    Medeiros-Neto G, Targovnik HM, Vassart G.
    Endocr Rev; 1993 Apr; 14(2):165-83. PubMed ID: 8325250
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  • 4. A nonsense mutation causes human hereditary congenital goiter with preferential production of a 171-nucleotide-deleted thyroglobulin ribonucleic acid messenger.
    Targovnik HM, Medeiros-Neto G, Varela V, Cochaux P, Wajchenberg BL, Vassart G.
    J Clin Endocrinol Metab; 1993 Jul; 77(1):210-5. PubMed ID: 8325944
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  • 5. Molecular basis of the thyroglobulin synthesis defect in Dutch goats.
    Veenboer GJ, de Vijlder JJ.
    Endocrinology; 1993 Jan; 132(1):377-81. PubMed ID: 8380383
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  • 6. Congenital goiter with hypothyroidism caused by a 5' splice site mutation in the thyroglobulin gene.
    Targovnik HM, Rivolta CM, Mendive FM, Moya CM, Vono J, Medeiros-Neto G.
    Thyroid; 2001 Jul; 11(7):685-90. PubMed ID: 11484898
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  • 7. A premature stopcodon in thyroglobulin messenger RNA results in familial goiter and moderate hypothyroidism.
    van de Graaf SA, Ris-Stalpers C, Veenboer GJ, Cammenga M, Santos C, Targovnik HM, de Vijlder JJ, Medeiros-Neto G.
    J Clin Endocrinol Metab; 1999 Jul; 84(7):2537-42. PubMed ID: 10404833
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  • 14. A 138-nucleotide deletion in the thyroglobulin ribonucleic acid messenger in a congenital goiter with defective thyroglobulin synthesis.
    Targovnik HM, Vono J, Billerbeck AE, Cerrone GE, Varela V, Mendive F, Wajchenberg BL, Medeiros-Neto G.
    J Clin Endocrinol Metab; 1995 Nov; 80(11):3356-60. PubMed ID: 7593451
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  • 16. Molecular genetics of hereditary thyroid diseases due to a defect in the thyroglobulin or thyroperoxidase synthesis.
    Targovnik HM, Varela V, Frechtel GD, Cerrone GE, Copelli SB, Propato FV, Mendive F.
    Braz J Med Biol Res; 1994 Dec; 27(12):2745-57. PubMed ID: 7549998
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  • 17. Two distinct compound heterozygous constellations (R277X/IVS34-1G>C and R277X/R1511X) in the thyroglobulin (TG) gene in affected individuals of a Brazilian kindred with congenital goiter and defective TG synthesis.
    Gutnisky VJ, Moya CM, Rivolta CM, Domené S, Varela V, Toniolo JV, Medeiros-Neto G, Targovnik HM.
    J Clin Endocrinol Metab; 2004 Feb; 89(2):646-57. PubMed ID: 14764776
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  • 19. Nonfunctional thyroglobulin messenger RNA in goats with hereditary congenital goiter.
    de Vijlder JJ, van Ommen GJ, van Voorthuizen WF, Koch CA, Arnberg AC, Vassart G, Dinsart C, Flavell RA.
    J Mol Appl Genet; 1981 Feb; 1(1):51-9. PubMed ID: 6125553
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  • 20. 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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