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472 related items for PubMed ID: 12110737

  • 1. Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism.
    Moreno JC, Bikker H, Kempers MJ, van Trotsenburg AS, Baas F, de Vijlder JJ, Vulsma T, Ris-Stalpers C.
    N Engl J Med; 2002 Jul 11; 347(2):95-102. PubMed ID: 12110737
    [Abstract] [Full Text] [Related]

  • 2. Congenital hypothyroidism caused by new mutations in the thyroid oxidase 2 (THOX2) gene.
    Pfarr N, Korsch E, Kaspers S, Herbst A, Stach A, Zimmer C, Pohlenz J.
    Clin Endocrinol (Oxf); 2006 Dec 11; 65(6):810-5. PubMed ID: 17121535
    [Abstract] [Full Text] [Related]

  • 3. Persistent mild hypothyroidism associated with novel sequence variants of the DUOX2 gene in two siblings.
    Vigone MC, Fugazzola L, Zamproni I, Passoni A, Di Candia S, Chiumello G, Persani L, Weber G.
    Hum Mutat; 2005 Oct 11; 26(4):395. PubMed ID: 16134168
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  • 6. 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 Oct 11; 104 Suppl 4():121-3. PubMed ID: 8981018
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  • 7. 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 11; 67(2):238-46. PubMed ID: 17547680
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  • 8. Genetics of congenital hypothyroidism.
    Park SM, Chatterjee VK.
    J Med Genet; 2005 May 11; 42(5):379-89. PubMed ID: 15863666
    [Abstract] [Full Text] [Related]

  • 9. New phenotypes in thyroid dyshormonogenesis: hypothyroidism due to DUOX2 mutations.
    Moreno JC, Visser TJ.
    Endocr Dev; 2007 May 11; 10():99-117. PubMed ID: 17684392
    [Abstract] [Full Text] [Related]

  • 10. [Iodide organification defect].
    Hishinuma A, Ieiri T, Fukata S, Nishi Y, Kiwaki K.
    Nihon Rinsho; 2006 May 28; Suppl 1():360-2. PubMed ID: 16776165
    [No Abstract] [Full Text] [Related]

  • 11. Transient congenital hypothyroidism caused by biallelic mutations of the dual oxidase 2 gene in Japanese patients detected by a neonatal screening program.
    Maruo Y, Takahashi H, Soeda I, Nishikura N, Matsui K, Ota Y, Mimura Y, Mori A, Sato H, Takeuchi Y.
    J Clin Endocrinol Metab; 2008 Nov 28; 93(11):4261-7. PubMed ID: 18765513
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  • 12. Identification of novel genes involved in congenital hypothyroidism using serial analysis of gene expression.
    Moreno JC.
    Horm Res; 2003 Nov 28; 60 Suppl 3():96-102. PubMed ID: 14671405
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  • 13. Proportion of various types of thyroid disorders among newborns with congenital hypothyroidism and normally located gland: a regional cohort study.
    Gaudino R, Garel C, Czernichow P, Léger J.
    Clin Endocrinol (Oxf); 2005 Apr 28; 62(4):444-8. PubMed ID: 15807875
    [Abstract] [Full Text] [Related]

  • 14. 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 Apr 28; 6(1):9-16. PubMed ID: 7550241
    [Abstract] [Full Text] [Related]

  • 15. 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 28; 66(5):695-702. PubMed ID: 17381485
    [Abstract] [Full Text] [Related]

  • 16. 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 28; 67(3):351-7. PubMed ID: 17532758
    [Abstract] [Full Text] [Related]

  • 17. Defects of thyroidal hydrogen peroxide generation in congenital hypothyroidism.
    Grasberger H.
    Mol Cell Endocrinol; 2010 Jun 30; 322(1-2):99-106. PubMed ID: 20122987
    [Abstract] [Full Text] [Related]

  • 18. 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]

  • 19. Identification and functional analysis of novel dual oxidase 2 (DUOX2) mutations in children with congenital or subclinical hypothyroidism.
    De Marco G, Agretti P, Montanelli L, Di Cosmo C, Bagattini B, De Servi M, Ferrarini E, Dimida A, Freitas Ferreira AC, Molinaro A, Ceccarelli C, Brozzi F, Pinchera A, Vitti P, Tonacchera M.
    J Clin Endocrinol Metab; 2011 Aug 30; 96(8):E1335-9. PubMed ID: 21565790
    [Abstract] [Full Text] [Related]

  • 20. Mild congenital primary hypothyroidism in a Turkish family caused by a homozygous missense thyrotropin receptor (TSHR) gene mutation (A593 V).
    Fricke-Otto S, Pfarr N, Mühlenberg R, Pohlenz J.
    Exp Clin Endocrinol Diabetes; 2005 Dec 30; 113(10):582-5. PubMed ID: 16320156
    [Abstract] [Full Text] [Related]

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