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Journal Abstract Search

147 related items for PubMed ID: 8369653

  • 1. Defective organification of iodide causing hereditary goitrous hypothyroidism.
    Medeiros-Neto GA, Billerbeck AE, Wajchenberg BL, Targovnik HM.
    Thyroid; 1993; 3(2):143-59. PubMed ID: 8369653
    [Abstract] [Full Text] [Related]

  • 2. Thyroperoxidase gene mutations in congenital goitrous hypothyroidism with total and partial iodide organification defect.
    Nascimento AC, Guedes DR, Santos CS, Knobel M, Rubio IG, Medeiros-Neto G.
    Thyroid; 2003 Dec; 13(12):1145-51. PubMed ID: 14751036
    [Abstract] [Full Text] [Related]

  • 3. Defective organification of iodide causing congenital goitrous hypothyroidism.
    Ishikawa N, Eguchi K, Ohmori T, Momotani N, Nagayama Y, Hosoya T, Oguchi H, Mimura T, Kimura S, Nagataki S, Ito K.
    J Clin Endocrinol Metab; 1996 Jan; 81(1):376-83. PubMed ID: 8550781
    [Abstract] [Full Text] [Related]

  • 4. Two different mutations in the thyroid peroxidase gene of a large inbred Amish kindred: power and limits of homozygosity mapping.
    Pannain S, Weiss RE, Jackson CE, Dian D, Beck JC, Sheffield VC, Cox N, Refetoff S.
    J Clin Endocrinol Metab; 1999 Mar; 84(3):1061-71. PubMed ID: 10084596
    [Abstract] [Full Text] [Related]

  • 5. Two novel missense mutations in the thyroid peroxidase gene, R665W and G771R, result in a localization defect and cause congenital hypothyroidism.
    Umeki K, Kotani T, Kawano J, Suganuma T, Yamamoto I, Aratake Y, Furujo M, Ichiba Y.
    Eur J Endocrinol; 2002 Apr; 146(4):491-8. PubMed ID: 11916616
    [Abstract] [Full Text] [Related]

  • 6. Identification of a mutation in the coding sequence of the human thyroid peroxidase gene causing congenital goiter.
    Abramowicz MJ, Targovnik HM, Varela V, Cochaux P, Krawiec L, Pisarev MA, Propato FV, Juvenal G, Chester HA, Vassart G.
    J Clin Invest; 1992 Oct; 90(4):1200-4. PubMed ID: 1401057
    [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. Molecular analysis of mutated thyroid peroxidase detected in patients with total iodide organification defects.
    Bikker H, Baas F, De Vijlder JJ.
    J Clin Endocrinol Metab; 1997 Feb 30; 82(2):649-53. PubMed ID: 9024270
    [Abstract] [Full Text] [Related]

  • 9. 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]

  • 10. A novel mutation in the human thyroid peroxidase gene resulting in a total iodide organification defect.
    Kotani T, Umeki K, Yamamoto I, Maesaka H, Tachibana K, Ohtaki S.
    J Endocrinol; 1999 Feb 30; 160(2):267-73. PubMed ID: 9924196
    [Abstract] [Full Text] [Related]

  • 11. A 20-basepair duplication in the human thyroid peroxidase gene results in a total iodide organification defect and congenital hypothyroidism.
    Bikker H, den Hartog MT, Baas F, Gons MH, Vulsma T, de Vijlder JJ.
    J Clin Endocrinol Metab; 1994 Jul 30; 79(1):248-52. PubMed ID: 8027236
    [Abstract] [Full Text] [Related]

  • 12. Total iodide organification defect: clinical and molecular characterization of an Italian family.
    Fugazzola L, Mannavola D, Vigone MC, Cirello V, Weber G, Beck-Peccoz P, Persani L.
    Thyroid; 2005 Sep 30; 15(9):1085-8. PubMed ID: 16187919
    [Abstract] [Full Text] [Related]

  • 13. Pseudodominant inheritance of goitrous congenital hypothyroidism caused by TPO mutations: molecular and in silico studies.
    Deladoëy J, Pfarr N, Vuissoz JM, Parma J, Vassart G, Biesterfeld S, Pohlenz J, Van Vliet G.
    J Clin Endocrinol Metab; 2008 Feb 30; 93(2):627-33. PubMed ID: 18029453
    [Abstract] [Full Text] [Related]

  • 14. Two decades of screening for congenital hypothyroidism in The Netherlands: TPO gene mutations in total iodide organification defects (an update).
    Bakker B, Bikker H, Vulsma T, de Randamie JS, Wiedijk BM, De Vijlder JJ.
    J Clin Endocrinol Metab; 2000 Oct 30; 85(10):3708-12. PubMed ID: 11061528
    [Abstract] [Full Text] [Related]

  • 15. Congenital hypothyroidism caused by a premature termination signal in exon 10 of the human thyroid peroxidase gene.
    Bikker H, Waelkens JJ, Bravenboer B, de Vijlder JJ.
    J Clin Endocrinol Metab; 1996 Jun 30; 81(6):2076-9. PubMed ID: 8964831
    [Abstract] [Full Text] [Related]

  • 16. Monoallelic expression of mutant thyroid peroxidase allele causing total iodide organification defect.
    Fugazzola L, Cerutti N, Mannavola D, Vannucchi G, Fallini C, Persani L, Beck-Peccoz P.
    J Clin Endocrinol Metab; 2003 Jul 30; 88(7):3264-71. PubMed ID: 12843174
    [Abstract] [Full Text] [Related]

  • 17. Goitrous congenital hypothyroidism and hearing impairment associated with mutations in the TPO and SLC26A4/PDS genes.
    Pfarr N, Borck G, Turk A, Napiontek U, Keilmann A, Müller-Forell W, Kopp P, Pohlenz J.
    J Clin Endocrinol Metab; 2006 Jul 30; 91(7):2678-81. PubMed ID: 16684826
    [Abstract] [Full Text] [Related]

  • 18. Analysis of TPO gene in Turkish children with iodide organification defect: identification of a novel mutation.
    Turkkahraman D, Alper OM, Pehlivanoglu S, Aydin F, Yildiz A, Luleci G, Akcurin S, Bircan I.
    Endocrine; 2010 Feb 30; 37(1):124-8. PubMed ID: 20963560
    [Abstract] [Full Text] [Related]

  • 19. Thyroid iodine organification defects: a case with lack of thyroglobulin iodination and a case without any peroxidase activity.
    Pommier J, Tourniaire J, Rahmoun B, Déme D, Pallo D, Bornet H, Nunez J.
    J Clin Endocrinol Metab; 1976 Feb 30; 42(2):319-29. PubMed ID: 1262432
    [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 30; 22(3):259. PubMed ID: 12938097
    [Abstract] [Full Text] [Related]

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