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Journal Abstract Search

202 related items for PubMed ID: 19243353

  • 41. Monoallelic thyroid peroxidase gene mutation in a patient with congenital hypothyroidism with total iodide organification defect.
    Neves SC, Mezalira PR, Dias VM, Chagas AJ, Viana M, Targovnik H, Knobel M, Medeiros-Neto G, Rubio IG.
    Arq Bras Endocrinol Metabol; 2010 Nov; 54(8):732-7. PubMed ID: 21340161
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  • 42. A Novel Mutation in Thyroid Peroxidase Gene Causing Congenital Goitrous Hypothyroidism in a German-Thai Patient.
    Sriphrapradang C, Thewjitcharoen Y, Chanprasertyothin S, Nakasatien S, Himathongkam T, Trachoo O.
    J Clin Res Pediatr Endocrinol; 2016 Jun 05; 8(2):241-5. PubMed ID: 26761947
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  • 43. Variable clinical phenotypes in a family with homozygous c.1159G>A mutation in the thyroid peroxidase gene.
    Lee CC, Harun F, Jalaludin MY, Heh CH, Othman R, Kang IN, Mat Junit S.
    Horm Res Paediatr; 2014 Jun 05; 81(5):356-60. PubMed ID: 24717978
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  • 44. Mild and severe congenital primary hypothyroidism in two patients by thyrotropin receptor (TSHR) gene mutation.
    Baş VN, Cangul H, Agladioglu SY, Kendall M, Cetinkaya S, Maher ER, Aycan Z.
    J Pediatr Endocrinol Metab; 2012 Jun 05; 25(11-12):1153-6. PubMed ID: 23329763
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  • 46. Increased Prevalence of TG and TPO Mutations in Sudanese Children With Congenital Hypothyroidism.
    Bruellman RJ, Watanabe Y, Ebrhim RS, Creech MK, Abdullah MA, Dumitrescu AM, Refetoff S, Weiss RE.
    J Clin Endocrinol Metab; 2020 May 01; 105(5):1564-72. PubMed ID: 31867598
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  • 49. Two novel missense mutations in the thyroid peroxidase gene, R665W and G771R, result in a localization defect and cause congenital hypothyroidism.
    Umeki K, Kotani T, Kawano J, Suganuma T, Yamamoto I, Aratake Y, Furujo M, Ichiba Y.
    Eur J Endocrinol; 2002 Apr 01; 146(4):491-8. PubMed ID: 11916616
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  • 51. 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
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  • 54. Intrauterine therapy of goitrous hypothyroidism in a boy with a new compound heterozygous mutation (Y453D and C800R) in the thyroid peroxidase gene. A long-term follow-up.
    Börgel K, Pohlenz J, Holzgreve W, Bramswig JH.
    Am J Obstet Gynecol; 2005 Sep 30; 193(3 Pt 1):857-8. PubMed ID: 16150286
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  • 55. High frequency of DUOX2 mutations in transient or permanent congenital hypothyroidism with eutopic thyroid glands.
    Jin HY, Heo SH, Kim YM, Kim GH, Choi JH, Lee BH, Yoo HW.
    Horm Res Paediatr; 2014 Sep 30; 82(4):252-60. PubMed ID: 25248169
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