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Journal Abstract Search

250 related items for PubMed ID: 19378427

  • 1. Biochemical characterization of four novel mutations in the thyroid hormone receptor beta gene in patients with resistance to thyroid hormone.
    Asadi AB, Torjesen PA, Haug E, Berg JP.
    Scand J Clin Lab Invest; 2008; 68(7):563-7. PubMed ID: 19378427
    [Abstract] [Full Text] [Related]

  • 2. A novel mutation (E333D) in the thyroid hormone beta receptor causing resistance to thyroid hormone syndrome.
    Maraninchi M, Bourcigaux N, Dace A, El-Yazidi C, Malezet-Desmoulins C, Krempf M, Torresani J, Margotat A.
    Exp Clin Endocrinol Diabetes; 2006 Nov; 114(10):569-76. PubMed ID: 17177139
    [Abstract] [Full Text] [Related]

  • 3. Tissue responses to thyroid hormone in a kindred with resistance to thyroid hormone harboring a commonly occurring mutation in the thyroid hormone receptor beta gene (P453T).
    Wu SY, Sadow PM, Refetoff S, Weiss RE.
    J Lab Clin Med; 2005 Aug; 146(2):85-94. PubMed ID: 16099238
    [Abstract] [Full Text] [Related]

  • 4. A novel mutation (M310L) in the thyroid hormone receptor beta causing resistance to thyroid hormone in a Brazilian kindred and a neonate.
    Furlanetto TW, Kopp P, Peccin S, Gu WX, Jameson JL.
    Mol Genet Metab; 2000 Nov; 71(3):520-6. PubMed ID: 11073720
    [Abstract] [Full Text] [Related]

  • 5. 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 Nov; 23(3-4):148-53. PubMed ID: 19268523
    [Abstract] [Full Text] [Related]

  • 6. Thyroid hormone resistance.
    Olateju TO, Vanderpump MP.
    Ann Clin Biochem; 2006 Nov; 43(Pt 6):431-40. PubMed ID: 17132274
    [Abstract] [Full Text] [Related]

  • 7. Thyroid hormone receptor mutations and disease: beyond thyroid hormone resistance.
    Cheng SY.
    Trends Endocrinol Metab; 2005 Nov; 16(4):176-82. PubMed ID: 15860414
    [Abstract] [Full Text] [Related]

  • 8. A novel p.E311K mutation of thyroid receptor beta gene in resistance to thyroid hormone syndrome, inherited in autosomal recessive trait.
    Slezak R, Lukienczuk T, Noczynska A, Karpinski P, Lebioda A, Misiak B, Sasiadek MM.
    Horm Metab Res; 2012 Sep; 44(9):704-7. PubMed ID: 22696245
    [Abstract] [Full Text] [Related]

  • 9. Resistance to thyroid hormone caused by two mutant thyroid hormone receptors beta, R243Q and R243W, with marked impairment of function that cannot be explained by altered in vitro 3,5,3'-triiodothyroinine binding affinity.
    Yagi H, Pohlenz J, Hayashi Y, Sakurai A, Refetoff S.
    J Clin Endocrinol Metab; 1997 May; 82(5):1608-14. PubMed ID: 9141558
    [Abstract] [Full Text] [Related]

  • 10. A novel 1297-1304delGCCTGCCA mutation in the exon 10 of the thyroid hormone receptor beta gene causes resistance to thyroid hormone.
    Rivolta CM, Mallea Gil MS, Ballarino C, Ridruejo MC, Miguel CM, Gimenez SB, Bernacchi SS, Targovnik HM.
    Mol Diagn; 2004 May; 8(3):163-9. PubMed ID: 15771554
    [Abstract] [Full Text] [Related]

  • 11. Thyroid Hormone Resistance in children.
    Ercan O.
    Pediatr Endocrinol Rev; 2003 Dec; 1 Suppl 2():191-8; discussion 198. PubMed ID: 16444158
    [Abstract] [Full Text] [Related]

  • 12. A new mutation in the thyroid hormone receptor gene of a Chinese family with resistance to thyroid hormone.
    Dong Q, Gong CX, Gu Y, Su C.
    Chin Med J (Engl); 2011 Jun; 124(12):1835-9. PubMed ID: 21740842
    [Abstract] [Full Text] [Related]

  • 13. A mutation in thyroid hormone receptor beta causing "resistance to thyroid hormone" in a neonate.
    Cömert S, Akin Y, Vitrinel A, Telatar B, Ağikuru T, Gözü H, Bircan R, Turan S.
    Minerva Pediatr; 2010 Aug; 62(4):419-22. PubMed ID: 20940675
    [Abstract] [Full Text] [Related]

  • 14. Resistance to thyroid hormone in a Turkish child with A317T mutation in the thyroid hormone receptor-beta gene.
    Poyrazoğlu S, Tütüncüler F, Baş F, Darendeliler F.
    Turk J Pediatr; 2008 Aug; 50(6):577-80. PubMed ID: 19227423
    [Abstract] [Full Text] [Related]

  • 15. Thyroid hormone resistance: a novel mutation in thyroid hormone receptor beta (THRB) gene - case report.
    Işık E, Beck Peccoz P, Campi I, Özön A, Alikaşifoğlu A, Gönç N, Kandemir N.
    Turk J Pediatr; 2013 Aug; 55(3):322-7. PubMed ID: 24217081
    [Abstract] [Full Text] [Related]

  • 16. Assessing the clinical and molecular diagnosis of inherited forms of impaired sensitivity to thyroid hormone from a single tertiary center.
    Ramos LS, Kizys MML, Kunii IS, Spinola-Castro AM, Nesi-França S, Guerra RA, Camacho CP, Martins JRM, Maciel RMB, Dias-da-Silva MR, Chiamolera MI.
    Endocrine; 2018 Dec; 62(3):628-638. PubMed ID: 30027432
    [Abstract] [Full Text] [Related]

  • 17. Clinical features and genetic analysis of four Brazilian kindreds with resistance to thyroid hormone.
    Magalhães PK, Rodrigues Dare GL, Rodrigues Dos Santos S, Nogueira CR, de Castro M, Zanini Maciel LM.
    Clin Endocrinol (Oxf); 2007 Nov; 67(5):748-53. PubMed ID: 17610520
    [Abstract] [Full Text] [Related]

  • 18. Two Novel Mutations in the Thyroid Hormone Receptor β in Patients with Resistance to Thyroid Hormone (RTH β): Clinical, Biochemical, and Molecular Data.
    Esquiaveto-Aun AM, Zantut-Wittmann DE, Petroli RJ, Nakano BS, Guerra-Júnior G, de Lemos-Marini SH, de Mello MP.
    Horm Metab Res; 2015 Nov; 47(12):889-94. PubMed ID: 25738994
    [Abstract] [Full Text] [Related]

  • 19. Resistance to thyroid hormone due to mutations in the THRB gene impairs bone mass and affects calcium and phosphorus homeostasis.
    Cardoso LF, de Paula FJ, Maciel LM.
    Bone; 2014 Oct; 67():222-7. PubMed ID: 25063548
    [Abstract] [Full Text] [Related]

  • 20. DNA-based diagnosis of thyroid hormone resistance syndrome: a novel THRB mutation associated with mild resistance to thyroid hormone.
    Lam CW, On-Kei Chan A, Tong SF, Shek CC, Cheung Tiu S.
    Clin Chim Acta; 2005 Aug; 358(1-2):55-9. PubMed ID: 15913586
    [Abstract] [Full Text] [Related]

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