These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

212 related items for PubMed ID: 10404833

  • 1. 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]

  • 2. 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]

  • 3. Molecular basis of the thyroglobulin synthesis defect in Dutch goats.
    Veenboer GJ, de Vijlder JJ.
    Endocrinology; 1993 Jan; 132(1):377-81. PubMed ID: 8380383
    [Abstract] [Full Text] [Related]

  • 4. 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]

  • 5. 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]

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

  • 7. 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; 69(6):1137-47. PubMed ID: 2584351
    [Abstract] [Full Text] [Related]

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

  • 9. Clinical case seminar: metastatic follicular thyroid carcinoma arising from congenital goiter as a result of a novel splice donor site mutation in the thyroglobulin gene.
    Alzahrani AS, Baitei EY, Zou M, Shi Y.
    J Clin Endocrinol Metab; 2006 Mar; 91(3):740-6. PubMed ID: 16403815
    [Abstract] [Full Text] [Related]

  • 10. [Thyroglobulin (Tg) gene and familial Tg synthesis defect].
    Ieiri T.
    Nihon Rinsho; 1994 Apr; 52(4):869-74. PubMed ID: 8196172
    [Abstract] [Full Text] [Related]

  • 11. 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; 80(11):3356-60. PubMed ID: 7593451
    [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. 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]

  • 14. 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]

  • 15. 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]

  • 16. 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 30; 11(7):685-90. PubMed ID: 11484898
    [Abstract] [Full Text] [Related]

  • 17. 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]

  • 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 30; 95(3):1000-6. PubMed ID: 20089614
    [Abstract] [Full Text] [Related]

  • 19. [Identification of a 3' splice site mutation in the thyroglobulin gene in a case of congenital familial goiter].
    Ieiri T, Kuroda H, Emoto T, Masawa N, Hasegawa K, Shimoda S.
    Nihon Naibunpi Gakkai Zasshi; 1992 Aug 20; 68(8):752-64. PubMed ID: 1397384
    [Abstract] [Full Text] [Related]

  • 20. Missense mutation (C1263R) in the thyroglobulin gene causes congenital goiter with mild hypothyroidism by impaired intracellular transport.
    Hishinuma A, Kasai K, Masawa N, Kanno Y, Arimura M, Shimoda SI, Ieiri T.
    Endocr J; 1998 Jun 20; 45(3):315-27. PubMed ID: 9790265
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 11.