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235 related items for PubMed ID: 9588493

  • 1. Evidence for the segregation of three different mutated alleles of the thyroglobulin gene in a Brazilian family with congenital goiter and hypothyroidism.
    Targovnik HM, Frechtel GD, Mendive FM, Vono J, Cochaux P, Vassart G, Medeiros-Neto G.
    Thyroid; 1998 Apr; 8(4):291-7. PubMed ID: 9588493
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 4. 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]

  • 5. 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
    [Abstract] [Full Text] [Related]

  • 6. 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; 90(6):3766-70. PubMed ID: 15769978
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 8. 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
    [Abstract] [Full Text] [Related]

  • 9. 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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  • 11. Molecular analysis of thyroglobulin mutations found in patients with goiter and hypothyroidism.
    Siffo S, Adrover E, Citterio CE, Miras MB, Balbi VA, Chiesa A, Weill J, Sobrero G, González VG, Papendieck P, Martinez EB, Gonzalez-Sarmiento R, Rivolta CM, Targovnik HM.
    Mol Cell Endocrinol; 2018 Sep 15; 473():1-16. PubMed ID: 29275168
    [Abstract] [Full Text] [Related]

  • 12. New insights into thyroglobulin gene: molecular analysis of seven novel mutations associated with goiter and hypothyroidism.
    Citterio CE, Machiavelli GA, Miras MB, Gruñeiro-Papendieck L, Lachlan K, Sobrero G, Chiesa A, Walker J, Muñoz L, Testa G, Belforte FS, González-Sarmiento R, Rivolta CM, Targovnik HM.
    Mol Cell Endocrinol; 2013 Jan 30; 365(2):277-91. PubMed ID: 23164529
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 14. 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
    [Abstract] [Full Text] [Related]

  • 15. Low levels of thyroglobulin messenger ribonucleic acid in congenital goitrous hypothyroidism with defective thyroglobulin synthesis.
    Targovnik H, Propato F, Varela V, Wajchenberg B, Knobel M, D'Abronzo HF, Medeiros-Neto G.
    J Clin Endocrinol Metab; 1989 Dec 30; 69(6):1137-47. PubMed ID: 2584351
    [Abstract] [Full Text] [Related]

  • 16. 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 30; 72(1):112-21. PubMed ID: 19438905
    [Abstract] [Full Text] [Related]

  • 17. 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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  • 19. 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 15; 80(11):3356-60. PubMed ID: 7593451
    [Abstract] [Full Text] [Related]

  • 20. Biallelic p.R2223H mutation in the thyroglobulin gene causes thyroglobulin retention and severe hypothyroidism with subsequent development of thyroid carcinoma.
    Raef H, Al-Rijjal R, Al-Shehri S, Zou M, Al-Mana H, Baitei EY, Parhar RS, Al-Mohanna FA, Shi Y.
    J Clin Endocrinol Metab; 2010 Mar 15; 95(3):1000-6. PubMed ID: 20089614
    [Abstract] [Full Text] [Related]

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