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223 related items for PubMed ID: 21372558

  • 1. Thyroglobulin gene mutations in congenital hypothyroidism.
    Targovnik HM, Citterio CE, Rivolta CM.
    Horm Res Paediatr; 2011; 75(5):311-21. PubMed ID: 21372558
    [Abstract] [Full Text] [Related]

  • 2. 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]

  • 3. 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
    [Abstract] [Full Text] [Related]

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

  • 6. 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
    [Abstract] [Full Text] [Related]

  • 7. Molecular advances in thyroglobulin disorders.
    Rivolta CM, Targovnik HM.
    Clin Chim Acta; 2006 Dec 30; 374(1-2):8-24. PubMed ID: 16870170
    [Abstract] [Full Text] [Related]

  • 8. 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]

  • 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
    [Abstract] [Full Text] [Related]

  • 10. 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
    [Abstract] [Full Text] [Related]

  • 11. 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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  • 17. The screening for mutations in the thyroglobulin cDNA from six patients with congenital hypothyroidism.
    van de Graaf SA, Cammenga M, Ponne NJ, Veenboer GJ, Gons MH, Orgiazzi J, de Vijlder JJ, Ris-Stalpers C.
    Biochimie; 1999 May 02; 81(5):425-32. PubMed ID: 10403171
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  • 18. 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 02; 8(4):291-7. PubMed ID: 9588493
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  • 20. 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 02; 77(1):210-5. PubMed ID: 8325944
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