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Journal Abstract Search

204 related items for PubMed ID: 12938097

  • 1. 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; 22(3):259. PubMed ID: 12938097
    [Abstract] [Full Text] [Related]

  • 2. 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; 67(2):238-46. PubMed ID: 17547680
    [Abstract] [Full Text] [Related]

  • 3. 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]

  • 4. Identification of five novel inactivating mutations in the human thyroid peroxidase gene by denaturing gradient gel electrophoresis.
    Bikker H, Vulsma T, Baas F, de Vijlder JJ.
    Hum Mutat; 1995 Dec; 6(1):9-16. PubMed ID: 7550241
    [Abstract] [Full Text] [Related]

  • 5. Screening for mutations of the human thyroid peroxidase gene in patients with congenital hypothyroidism.
    Grüters A, Köhler B, Wolf A, Söling A, de Vijlder L, Krude H, Biebermann H.
    Exp Clin Endocrinol Diabetes; 1996 Dec; 104 Suppl 4():121-3. PubMed ID: 8981018
    [Abstract] [Full Text] [Related]

  • 6. 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]

  • 7. Genotyping of resistance to thyroid hormone in South American population. Identification of seven novel missense mutations in the human thyroid hormone receptor beta gene.
    Rivolta CM, Olcese MC, Belforte FS, Chiesa A, Gruñeiro-Papendieck L, Iorcansky S, Herzovich V, Cassorla F, Gauna A, Gonzalez-Sarmiento R, Targovnik HM.
    Mol Cell Probes; 2009 Jun 30; 23(3-4):148-53. PubMed ID: 19268523
    [Abstract] [Full Text] [Related]

  • 8. 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]

  • 9. Congenital goitrous hypothyroidism: mutation analysis in the thyroid peroxidase gene.
    Belforte FS, Miras MB, Olcese MC, Sobrero G, Testa G, Muñoz L, Gruñeiro-Papendieck L, Chiesa A, González-Sarmiento R, Targovnik HM, Rivolta CM.
    Clin Endocrinol (Oxf); 2012 Apr 30; 76(4):568-76. PubMed ID: 21981063
    [Abstract] [Full Text] [Related]

  • 10. A novel mutation in the TPO gene in goitrous hypothyroid patients with iodide organification defect.
    Santos CL, Bikker H, Rego KG, Nascimento AC, Tambascia M, De Vijlder JJ, Medeiros-Neto G.
    Clin Endocrinol (Oxf); 1999 Aug 30; 51(2):165-72. PubMed ID: 10468986
    [Abstract] [Full Text] [Related]

  • 11. 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]

  • 12. 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]

  • 13. 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 30; 90(4):1200-4. PubMed ID: 1401057
    [Abstract] [Full Text] [Related]

  • 14. 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]

  • 15. Mutation analysis of thyroid peroxidase gene in Chinese patients with total iodide organification defect: identification of five novel mutations.
    Wu JY, Shu SG, Yang CF, Lee CC, Tsai FJ.
    J Endocrinol; 2002 Mar 30; 172(3):627-35. PubMed ID: 11874711
    [Abstract] [Full Text] [Related]

  • 16. Analysis of the SLC26A4 gene in patients with Pendred syndrome in Taiwan.
    Lai CC, Chiu CY, Shiao AS, Tso YC, Wu YC, Tu TY, Jap TS.
    Metabolism; 2007 Sep 30; 56(9):1279-84. PubMed ID: 17697873
    [Abstract] [Full Text] [Related]

  • 17. Clinical and genetic characteristics of congenital hypothyroidism due to mutations in the thyroid peroxidase (TPO) gene in Israelis.
    Tenenbaum-Rakover Y, Mamanasiri S, Ris-Stalpers C, German A, Sack J, Allon-Shalev S, Pohlenz J, Refetoff S.
    Clin Endocrinol (Oxf); 2007 May 30; 66(5):695-702. PubMed ID: 17381485
    [Abstract] [Full Text] [Related]

  • 18. 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 30; 81(1):376-83. PubMed ID: 8550781
    [Abstract] [Full Text] [Related]

  • 19. Congenital goitrous primary hypothyroidism in two German families caused by novel thyroid peroxidase (TPO) gene mutations.
    Altmann K, Hermanns P, Mühlenberg R, Fricke-Otto S, Wentzell R, Pohlenz J.
    Exp Clin Endocrinol Diabetes; 2013 Jun 30; 121(6):343-6. PubMed ID: 23512414
    [Abstract] [Full Text] [Related]

  • 20. Mutations in the iodotyrosine deiodinase gene and hypothyroidism.
    Moreno JC, Klootwijk W, van Toor H, Pinto G, D'Alessandro M, Lèger A, Goudie D, Polak M, Grüters A, Visser TJ.
    N Engl J Med; 2008 Apr 24; 358(17):1811-8. PubMed ID: 18434651
    [Abstract] [Full Text] [Related]

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