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354 related items for PubMed ID: 19438905

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. 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]

  • 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. 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]

  • 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 30; 90(6):3766-70. PubMed ID: 15769978
    [Abstract] [Full Text] [Related]

  • 7. 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]

  • 8. Two compound heterozygous mutations (c.215delA/c.2422T-->C and c.387delC/c.1159G-->A) in the thyroid peroxidase gene responsible for congenital goitre and iodide organification defect.
    Rivolta CM, Louis-Tisserand M, Varela V, Gruñeiro-Papendieck L, Chiesa A, González-Sarmiento R, Targovnik HM.
    Clin Endocrinol (Oxf); 2007 Aug 30; 67(2):238-46. PubMed ID: 17547680
    [Abstract] [Full Text] [Related]

  • 9. 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 30; 94(8):2938-44. PubMed ID: 19509106
    [Abstract] [Full Text] [Related]

  • 10. 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]

  • 11. 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]

  • 12. Congenital goitre with hypothyroidism caused by a novel compound heterozygous mutations in the thyroglobulin gene.
    Targovnik HM, Souchon PF, Machiavelli GA, Salmon-Musial AS, Mauran PL, Sulmont V, Doco-Fenzy M, Rivolta CM.
    Clin Endocrinol (Oxf); 2010 May 15; 72(5):716-8. PubMed ID: 20447071
    [No Abstract] [Full Text] [Related]

  • 13. 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]

  • 14. Two mutations in exon XII of the protein S alpha gene in four thrombophilic families resulting in premature stop codons and depressed levels of mutated mRNA.
    Andersen BD, Lind B, Philips M, Hansen AB, Ingerslev J, Thorsen S.
    Thromb Haemost; 1996 Aug 30; 76(2):143-50. PubMed ID: 8865520
    [Abstract] [Full Text] [Related]

  • 15. Defective thyroglobulin synthesis and secretion causing goiter and hypothyroidism.
    Medeiros-Neto G, Targovnik HM, Vassart G.
    Endocr Rev; 1993 Apr 30; 14(2):165-83. PubMed ID: 8325250
    [Abstract] [Full Text] [Related]

  • 16. 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 30; 8(4):291-7. PubMed ID: 9588493
    [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
    [Abstract] [Full Text] [Related]

  • 18. Alport syndrome. Molecular genetic aspects.
    Hertz JM.
    Dan Med Bull; 2009 Aug 15; 56(3):105-52. PubMed ID: 19728970
    [Abstract] [Full Text] [Related]

  • 19. 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 15; 88(8):3546-53. PubMed ID: 12915634
    [Abstract] [Full Text] [Related]

  • 20. Five novel inactivating mutations in the thyroid peroxidase gene responsible for congenital goiter and iodide organification defect.
    Rivolta CM, Esperante SA, Gruñeiro-Papendieck L, Chiesa A, Moya CM, Domené S, Varela V, Targovnik HM.
    Hum Mutat; 2003 Sep 15; 22(3):259. PubMed ID: 12938097
    [Abstract] [Full Text] [Related]

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