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Journal Abstract Search

203 related items for PubMed ID: 20093166

  • 1. 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]

  • 2. 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 30; 15(1):126-32. PubMed ID: 22784463
    [Abstract] [Full Text] [Related]

  • 3. 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]

  • 4. 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 30; 195(1):167-77. PubMed ID: 17911408
    [Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. 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 30; 67(3):351-7. PubMed ID: 17532758
    [Abstract] [Full Text] [Related]

  • 7. Genetics and phenomics of hypothyroidism and goiter due to TPO mutations.
    Ris-Stalpers C, Bikker H.
    Mol Cell Endocrinol; 2010 Jun 30; 322(1-2):38-43. PubMed ID: 20153806
    [Abstract] [Full Text] [Related]

  • 8. 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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  • 11. 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 15; 8(4):291-7. PubMed ID: 9588493
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  • 12. Defective thyroglobulin synthesis and secretion causing goiter and hypothyroidism.
    Medeiros-Neto G, Targovnik HM, Vassart G.
    Endocr Rev; 1993 Apr 15; 14(2):165-83. PubMed ID: 8325250
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  • 13. 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
    [Abstract] [Full Text] [Related]

  • 14. Thyroglobulin gene mutations in congenital hypothyroidism.
    Targovnik HM, Citterio CE, Rivolta CM.
    Horm Res Paediatr; 2011 Jun 15; 75(5):311-21. PubMed ID: 21372558
    [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 15; 69(6):1137-47. PubMed ID: 2584351
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  • 16. 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 15; 84(7):2537-42. PubMed ID: 10404833
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  • 17. A single amino acid change in the acetylcholinesterase-like domain of thyroglobulin causes congenital goiter with hypothyroidism in the cog/cog mouse: a model of human endoplasmic reticulum storage diseases.
    Kim PS, Hossain SA, Park YN, Lee I, Yoo SE, Arvan P.
    Proc Natl Acad Sci U S A; 1998 Aug 18; 95(17):9909-13. PubMed ID: 9707574
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  • 18. 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 18; 95(3):1000-6. PubMed ID: 20089614
    [Abstract] [Full Text] [Related]

  • 19. 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 18; 89(2):646-57. PubMed ID: 14764776
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