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Journal Abstract Search

559 related items for PubMed ID: 19268523

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  • 3. 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
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  • 4. 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
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  • 7. 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
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  • 8. 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
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  • 10. 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
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  • 12. 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
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  • 15. 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
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  • 16. Thyroid hormone receptor mutations and disease: beyond thyroid hormone resistance.
    Cheng SY.
    Trends Endocrinol Metab; 2005 Jun; 16(4):176-82. PubMed ID: 15860414
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  • 17. T426I a new mutation in the thyroid hormone receptor beta gene in a sporadic patient with resistance to thyroid hormone and dysmorphism. Mutations in brief no. 192. Online.
    Menzaghi C, Di Paola R, Corrias A, Einaudi S, Trischitta V, De Sanctis C, De Filippis V.
    Hum Mutat; 1998 Jun; 12(4):289. PubMed ID: 10660344
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  • 19. Hereditary protein C deficiency associated with mutations in exon IX of the protein C gene.
    Doig RG, Begley CG, McGrath KM.
    Thromb Haemost; 1994 Aug; 72(2):203-8. PubMed ID: 7831652
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  • 20. 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; 72(1):112-21. PubMed ID: 19438905
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