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Journal Abstract Search

204 related items for PubMed ID: 29790453

  • 1. Thyroid Hypoplasia in Congenital Hypothyroidism Associated with Thyroid Peroxidase Mutations.
    Stoupa A, Chaabane R, Guériouz M, Raynaud-Ravni C, Nitschke P, Bole-Feysot C, Mnif M, Ammar Keskes L, Hachicha M, Belguith N, Polak M, Carré A.
    Thyroid; 2018 Jul; 28(7):941-944. PubMed ID: 29790453
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  • 6. Genetic Evaluation of Congenital Hypothyroidism with Gland in situ Using Targeted Exome Sequencing.
    Shin JH, Kim HY, Kim YM, Lee H, Bae MH, Park KH, Lee SM, Kwak MJ.
    Ann Clin Lab Sci; 2021 Jan; 51(1):73-81. PubMed ID: 33653783
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  • 10. Molecular Analysis of Congenital Hypothyroidism in Saudi Arabia: SLC26A7 Mutation Is a Novel Defect in Thyroid Dyshormonogenesis.
    Zou M, Alzahrani AS, Al-Odaib A, Alqahtani MA, Babiker O, Al-Rijjal RA, BinEssa HA, Kattan WE, Al-Enezi AF, Al Qarni A, Al-Faham MSA, Baitei EY, Alsagheir A, Meyer BF, Shi Y.
    J Clin Endocrinol Metab; 2018 May 01; 103(5):1889-1898. PubMed ID: 29546359
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  • 13. Genetic analyses in a cohort of Portuguese pediatric patients with congenital hypothyroidism.
    Santos-Silva R, Rosário M, Grangeia A, Costa C, Castro-Correia C, Alonso I, Leão M, Fontoura M.
    J Pediatr Endocrinol Metab; 2019 Nov 26; 32(11):1265-1273. PubMed ID: 31430255
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  • 14. Identification of PENDRIN (SLC26A4) mutations in patients with congenital hypothyroidism and "apparent" thyroid dysgenesis.
    Kühnen P, Turan S, Fröhler S, Güran T, Abali S, Biebermann H, Bereket A, Grüters A, Chen W, Krude H.
    J Clin Endocrinol Metab; 2014 Jan 26; 99(1):E169-76. PubMed ID: 24248179
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  • 15. Congenital goitrous hypothyroidism: mutation analysis in the thyroid peroxidase gene.
    Belforte FS, Miras MB, Olcese MC, Sobrero G, Testa G, Muñoz L, Gruñeiro-Papendieck L, Chiesa A, González-Sarmiento R, Targovnik HM, Rivolta CM.
    Clin Endocrinol (Oxf); 2012 Apr 26; 76(4):568-76. PubMed ID: 21981063
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  • 16. Whole-Exome Sequencing in Congenital Hypothyroidism Due to Thyroid Dysgenesis.
    Larrivée-Vanier S, Jean-Louis M, Magne F, Bui H, Rouleau GA, Spiegelman D, Samuels ME, Kibar Z, Van Vliet G, Deladoëy J.
    Thyroid; 2022 May 26; 32(5):486-495. PubMed ID: 35272499
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  • 17. 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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  • 18. 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 01; 66(5):695-702. PubMed ID: 17381485
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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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