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Journal Abstract Search

186 related items for PubMed ID: 1401057

  • 1. 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]

  • 2. 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 Oct; 6(1):9-16. PubMed ID: 7550241
    [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. Congenital primary hypothyroidism with subsequent adenomatous goiter in a Turkish patient caused by a homozygous 10-bp deletion in the thyroid peroxidase (TPO) gene.
    Pfarr N, Musholt TJ, Musholt PB, Brzezinska R, Pohlenz J.
    Clin Endocrinol (Oxf); 2006 May; 64(5):514-8. PubMed ID: 16649969
    [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 May; 104 Suppl 4():121-3. PubMed ID: 8981018
    [Abstract] [Full Text] [Related]

  • 6. [Thyroid peroxidase (TPO) gene and pathogenic TPO mutation].
    Asakawa H.
    Nihon Rinsho; 1994 Apr; 52(4):864-8. PubMed ID: 8196171
    [Abstract] [Full Text] [Related]

  • 7. 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]

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

  • 9. 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]

  • 10. 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 30; 13(12):1145-51. PubMed ID: 14751036
    [Abstract] [Full Text] [Related]

  • 11. Defective organification of iodide causing hereditary goitrous hypothyroidism.
    Medeiros-Neto GA, Billerbeck AE, Wajchenberg BL, Targovnik HM.
    Thyroid; 1993 Dec 30; 3(2):143-59. PubMed ID: 8369653
    [Abstract] [Full Text] [Related]

  • 12. 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]

  • 13. 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 30; 88(6):1901-5. PubMed ID: 1752952
    [Abstract] [Full Text] [Related]

  • 14. 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]

  • 15. 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]

  • 16. 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 24; 121(6):343-6. PubMed ID: 23512414
    [Abstract] [Full Text] [Related]

  • 17. CNS hypomyelination in Rat Terrier dogs with congenital goiter and a mutation in the thyroid peroxidase gene.
    Pettigrew R, Fyfe JC, Gregory BL, Lipsitz D, Delahunta A, Summers BA, Shelton GD.
    Vet Pathol; 2007 Jan 24; 44(1):50-6. PubMed ID: 17197623
    [Abstract] [Full Text] [Related]

  • 18. 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 24; 81(6):2076-9. PubMed ID: 8964831
    [Abstract] [Full Text] [Related]

  • 19. 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 24; 66(5):695-702. PubMed ID: 17381485
    [Abstract] [Full Text] [Related]

  • 20. 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 24; 160(2):267-73. PubMed ID: 9924196
    [Abstract] [Full Text] [Related]

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