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Journal Abstract Search

190 related items for PubMed ID: 19509106

  • 1. The p.A2215D thyroglobulin gene mutation leads to deficient synthesis and secretion of the mutated protein and congenital hypothyroidism with wide phenotype variation.
    Pardo V, Vono-Toniolo J, Rubio IG, Knobel M, Possato RF, Targovnik HM, Kopp P, Medeiros-Neto G.
    J Clin Endocrinol Metab; 2009 Aug; 94(8):2938-44. PubMed ID: 19509106
    [Abstract] [Full Text] [Related]

  • 2. Phenotypic variation among four family members with congenital hypothyroidism caused by two distinct thyroglobulin gene mutations.
    Pardo V, Rubio IG, Knobel M, Aguiar-Oliveira MH, Santos MM, Gomes SA, Oliveira CR, Targovnik HM, Medeiros-Neto G.
    Thyroid; 2008 Jul; 18(7):783-6. PubMed ID: 18631008
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  • 3. 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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  • 4. 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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  • 5. 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
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  • 8. Thyroglobulin gene mutations in congenital hypothyroidism.
    Targovnik HM, Citterio CE, Rivolta CM.
    Horm Res Paediatr; 2011 Jan 30; 75(5):311-21. PubMed ID: 21372558
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  • 9. 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 30; 89(2):646-57. PubMed ID: 14764776
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  • 10. New insights into thyroglobulin pathophysiology revealed by the study of a family with congenital goiter.
    Peteiro-Gonzalez D, Lee J, Rodriguez-Fontan J, Castro-Piedras I, Cameselle-Teijeiro J, Beiras A, Bravo SB, Alvarez CV, Hardy DM, Targovnik HM, Arvan P, Lado-Abeal J.
    J Clin Endocrinol Metab; 2010 Jul 30; 95(7):3522-6. PubMed ID: 20410234
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  • 12. 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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  • 13. 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; 15(1):126-32. PubMed ID: 22784463
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  • 14. Congenital hypothyroidism with impaired thyroid response to thyrotropin (TSH) and absent circulating thyroglobulin: evidence for a new inactivating mutation of the TSH receptor gene.
    Tonacchera M, Agretti P, Pinchera A, Rosellini V, Perri A, Collecchi P, Vitti P, Chiovato L.
    J Clin Endocrinol Metab; 2000 Mar 15; 85(3):1001-8. PubMed ID: 10720030
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  • 15. 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
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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 15; 90(6):3766-70. PubMed ID: 15769978
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  • 18. Two novel mutations in the thyroglobulin gene as cause of congenital hypothyroidism: identification a cryptic donor splice site in the exon 19.
    Targovnik HM, Edouard T, Varela V, Tauber M, Citterio CE, González-Sarmiento R, Rivolta CM.
    Mol Cell Endocrinol; 2012 Jan 02; 348(1):313-21. PubMed ID: 21958696
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  • 19. 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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  • 20. A missense mutation G2320R in the thyroglobulin gene causes non-goitrous congenital primary hypothyroidism in the WIC-rdw rat.
    Kim PS, Ding M, Menon S, Jung CG, Cheng JM, Miyamoto T, Li B, Furudate S, Agui T.
    Mol Endocrinol; 2000 Dec 30; 14(12):1944-53. PubMed ID: 11117525
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