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Journal Abstract Search

202 related items for PubMed ID: 19243353

  • 21. Genotypes and phenotypes of congenital goitre and hypothyroidism caused by mutations in dual oxidase 2 genes.
    Wang F, Lu K, Yang Z, Zhang S, Lu W, Zhang L, Liu S, Yan S.
    Clin Endocrinol (Oxf); 2014 Sep; 81(3):452-7. PubMed ID: 24735383
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  • 22. The TPO mutation screening and genotype-phenotype analysis in 230 Chinese patients with congenital hypothyroidism.
    Zhang RJ, Sun F, Chen F, Fang Y, Yan CY, Zhang CR, Ying YX, Wang Z, Zhang CX, Wu FY, Han B, Liang J, Zhao SX, Song HD.
    Mol Cell Endocrinol; 2020 Apr 15; 506():110761. PubMed ID: 32088313
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  • 24. 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 15; 6(1):9-16. PubMed ID: 7550241
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  • 25. Mutation screening of the TPO gene in a cohort of 192 Chinese patients with congenital hypothyroidism.
    Fu C, Xie B, Zhang S, Wang J, Luo S, Zheng H, Su J, Hu X, Chen R, Fan X, Luo J, Gu X, Chen S.
    BMJ Open; 2016 May 12; 6(5):e010719. PubMed ID: 27173810
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  • 28. Mutations of the thyroid peroxidase gene in Chinese siblings with congenital goitrous hypothyroidism.
    Ma SG, Wu XJ, Liu H, Xu W, He L.
    Arq Bras Endocrinol Metabol; 2012 Dec 12; 56(9):614-7. PubMed ID: 23329183
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  • 30. Two different mutations in the thyroid peroxidase gene of a large inbred Amish kindred: power and limits of homozygosity mapping.
    Pannain S, Weiss RE, Jackson CE, Dian D, Beck JC, Sheffield VC, Cox N, Refetoff S.
    J Clin Endocrinol Metab; 1999 Mar 12; 84(3):1061-71. PubMed ID: 10084596
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  • 31. A truncating TPO mutation (Y55X) in patients with hypothyroidism and total iodide organification defect.
    Cangul H, Darendeliler F, Saglam Y, Kucukemre B, Kendall M, Boelaert K, Barrett TG, Maher ER.
    Endocr Res; 2015 Mar 12; 40(3):146-50. PubMed ID: 25328990
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  • 33. The Missense Alteration A5T of the Thyroid Peroxidase Gene is Pathogenic and Associated with Mild Congenital Hypothyroidism.
    Cangül H, Demir K, Babayiğit HÖ, Abacı A, Böber E.
    J Clin Res Pediatr Endocrinol; 2015 Sep 12; 7(3):238-41. PubMed ID: 26831560
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  • 35. Compound heterozygous mutations (p.T561M and c.2422delT) in the TPO gene associated with congenital hypothyroidism.
    Ma SG, Zheng X, Qiu YL, Guo ML, Shao XJ.
    J Pediatr Endocrinol Metab; 2016 May 01; 29(5):567-70. PubMed ID: 27135621
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  • 37. Frequency of Mutations in the TPO Gene in Patients with Congenital Hypothyroidism Due to Dyshormonogenesis in Chile.
    Arteaga-Jacobo MC, Roco-Videla Á, Villota Arcos C, González-Hormazábal P, Gonzalo-Castro V, Pérez-Flores MV.
    Medicina (Kaunas); 2024 Jul 16; 60(7):. PubMed ID: 39064575
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