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305 related items for PubMed ID: 23512414

  • 1. 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; 121(6):343-6. PubMed ID: 23512414
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  • 2. 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; 93(2):627-33. PubMed ID: 18029453
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  • 9. [Mutation of thyroid peroxidase gene in 35 patients with congenital hypothyroidism].
    Li HF, Liu YX, Xie JS, Chen B, Li SL.
    Zhonghua Er Ke Za Zhi; 2011 Aug; 49(8):626-30. PubMed ID: 22093430
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  • 10. A common thyroid peroxidase gene mutation (G319R) in Turkish patients with congenital hypothyroidism could be due to a founder effect.
    Baş VN, Aycan Z, Cangul H, Kendall M, Ağladıoğlu SY, Çetinkaya S, Maher ER.
    J Pediatr Endocrinol Metab; 2014 Mar; 27(3-4):383-7. PubMed ID: 24158420
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  • 11. 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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  • 12. 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 01; 13(12):1145-51. PubMed ID: 14751036
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  • 13. Prevalence of c.2268dup and detection of two novel alterations, c.670_672del and c.1186C>T, in the TPO gene in a cohort of Malaysian-Chinese with thyroid dyshormonogenesis.
    Lee CC, Harun F, Jalaludin MY, Heh CH, Othman R, Junit SM.
    BMJ Open; 2015 Jan 05; 5(1):e006121. PubMed ID: 25564141
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  • 14. Two novel mutations in the thyroid peroxidase gene with goitrous hypothyroidism.
    Tajima T, Tsubaki J, Fujieda K.
    Endocr J; 2005 Oct 05; 52(5):643-5. PubMed ID: 16284446
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  • 16. 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 05; 66(5):695-702. PubMed ID: 17381485
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  • 17. 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 05; 64(5):514-8. PubMed ID: 16649969
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  • 18. 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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  • 19. Mild thyroid peroxidase deficiency caused by TPO mutations with residual activity: Correlation between clinical phenotypes and enzymatic activity.
    Narumi S, Fox LA, Fukudome K, Sakaguchi Z, Sugisawa C, Abe K, Kameyama K, Hasegawa T.
    Endocr J; 2017 Nov 29; 64(11):1087-1097. PubMed ID: 28867693
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  • 20. 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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