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128 related items for PubMed ID: 7549998

  • 1. 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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  • 2. 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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  • 3. 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. 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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  • 8. [Thyroglobulin (Tg) gene and familial Tg synthesis defect].
    Ieiri T.
    Nihon Rinsho; 1994 Apr; 52(4):869-74. PubMed ID: 8196172
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  • 9. [Identification of a 3' splice site mutation in the thyroglobulin gene in a case of congenital familial goiter].
    Ieiri T, Kuroda H, Emoto T, Masawa N, Hasegawa K, Shimoda S.
    Nihon Naibunpi Gakkai Zasshi; 1992 Aug 20; 68(8):752-64. PubMed ID: 1397384
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  • 10. 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 20; 88(6):1901-5. PubMed ID: 1752952
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  • 11. 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 20; 80(11):3356-60. PubMed ID: 7593451
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  • 12. A nonsense mutation causes hereditary goitre in the Afrikander cattle and unmasks alternative splicing of thyroglobulin transcripts.
    Ricketts MH, Simons MJ, Parma J, Mercken L, Dong Q, Vassart G.
    Proc Natl Acad Sci U S A; 1987 May 20; 84(10):3181-4. PubMed ID: 3472203
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  • 14. 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 20; 88(8):3546-53. PubMed ID: 12915634
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  • 16. Clinical case seminar: metastatic follicular thyroid carcinoma arising from congenital goiter as a result of a novel splice donor site mutation in the thyroglobulin gene.
    Alzahrani AS, Baitei EY, Zou M, Shi Y.
    J Clin Endocrinol Metab; 2006 Mar 20; 91(3):740-6. PubMed ID: 16403815
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  • 17. A new case of congenital goiter with hypothyroidism caused by a homozygous p.R277X mutation in the exon 7 of the thyroglobulin gene: a mutational hot spot could explain the recurrence of this mutation.
    Rivolta CM, Moya CM, Gutnisky VJ, Varela V, Miralles-García JM, González-Sarmiento R, Targovnik HM.
    J Clin Endocrinol Metab; 2005 Jun 20; 90(6):3766-70. PubMed ID: 15769978
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  • 18. 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 20; 72(1):112-21. PubMed ID: 19438905
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  • 19. A novel mutation in the thyroglobulin gene that causes goiter and dwarfism in Wistar Hannover GALAS rats.
    Sato A, Abe K, Yuzuriha M, Fujii S, Takahashi N, Hojo H, Teramoto S, Aoyama H.
    Mutat Res; 2014 Apr 20; 762():17-23. PubMed ID: 24582622
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  • 20. Novel compound heterozygous Thyroglobulin mutations c.745+1G>A/c.7036+2T>A associated with congenital goiter and hypothyroidism in a Vietnamese family. Identification of a new cryptic 5' splice site in the exon 6.
    Citterio CE, Morales CM, Bouhours-Nouet N, Machiavelli GA, Bueno E, Gatelais F, Coutant R, González-Sarmiento R, Rivolta CM, Targovnik HM.
    Mol Cell Endocrinol; 2015 Mar 15; 404():102-12. PubMed ID: 25633667
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