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Journal Abstract Search

417 related items for PubMed ID: 33400193

  • 1. Genetics of primary congenital hypothyroidism-a review.
    Kostopoulou E, Miliordos K, Spiliotis B.
    Hormones (Athens); 2021 Jun; 20(2):225-236. PubMed ID: 33400193
    [Abstract] [Full Text] [Related]

  • 2. Clinical genetics of congenital hypothyroidism.
    Szinnai G.
    Endocr Dev; 2014 Jun; 26():60-78. PubMed ID: 25231445
    [Abstract] [Full Text] [Related]

  • 3. The genetic characteristics of congenital hypothyroidism in China by comprehensive screening of 21 candidate genes.
    Sun F, Zhang JX, Yang CY, Gao GQ, Zhu WB, Han B, Zhang LL, Wan YY, Ye XP, Ma YR, Zhang MM, Yang L, Zhang QY, Liu W, Guo CC, Chen G, Zhao SX, Song KY, Song HD.
    Eur J Endocrinol; 2018 Jun; 178(6):623-633. PubMed ID: 29650690
    [Abstract] [Full Text] [Related]

  • 4. Mutational screening of the TPO and DUOX2 genes in Argentinian children with congenital hypothyroidism due to thyroid dyshormonogenesis.
    Molina MF, Papendieck P, Sobrero G, Balbi VA, Belforte FS, Martínez EB, Adrover E, Olcese MC, Chiesa A, Miras MB, González VG, Pio MG, González-Sarmiento R, Targovnik HM, Rivolta CM.
    Endocrine; 2022 Jun; 77(1):86-101. PubMed ID: 35507000
    [Abstract] [Full Text] [Related]

  • 5. 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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  • 11. Mutation spectrum analysis of 29 causative genes in 43 Chinese patients with congenital hypothyroidism.
    Wang H, Kong X, Pei Y, Cui X, Zhu Y, He Z, Wang Y, Zhang L, Zhuo L, Chen C, Yan X.
    Mol Med Rep; 2020 Jul; 22(1):297-309. PubMed ID: 32319661
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  • 12. Genetics of congenital hypothyroidism.
    Park SM, Chatterjee VK.
    J Med Genet; 2005 May; 42(5):379-89. PubMed ID: 15863666
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  • 13. Identification of southern Taiwan genetic variants in thyroid dyshormonogenesis through whole-exome sequencing.
    Tsai CC, Chang YM, Chou YY, Chen SY, Pan YW, Tsai MC.
    Kaohsiung J Med Sci; 2024 Aug; 40(8):744-756. PubMed ID: 38923290
    [Abstract] [Full Text] [Related]

  • 14. DUOX2 and DUOXA2 Variants Confer Susceptibility to Thyroid Dysgenesis and Gland-in-situ With Congenital Hypothyroidism.
    Wang F, Zang Y, Li M, Liu W, Wang Y, Yu X, Li H, Wang F, Liu S.
    Front Endocrinol (Lausanne); 2020 Aug; 11():237. PubMed ID: 32425884
    [Abstract] [Full Text] [Related]

  • 15. Genetic causes of congenital hypothyroidism due to dyshormonogenesis.
    Grasberger H, Refetoff S.
    Curr Opin Pediatr; 2011 Aug; 23(4):421-8. PubMed ID: 21543982
    [Abstract] [Full Text] [Related]

  • 16. Contactin 6, A Novel Causative Gene for Congenital Hypothyroidism, Mediates Thyroid Hormone Biosynthesis Through Notch Signaling.
    Zhang HY, Wu FY, Zhang CX, Wu CY, Cui RJ, Liu XY, Yang L, Zhang Y, Sun F, Cheng F, Yang RM, Song HD, Zhao SX.
    Thyroid; 2024 Mar; 34(3):324-335. PubMed ID: 38183624
    [Abstract] [Full Text] [Related]

  • 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. Transient congenital hypothyroidism - too short to be transient.
    Subramaniam K.
    J Postgrad Med; 2021 May 01; 67(4):238-240. PubMed ID: 34341225
    [Abstract] [Full Text] [Related]

  • 19. Defects in protein folding in congenital hypothyroidism.
    Targovnik HM, Scheps KG, Rivolta CM.
    Mol Cell Endocrinol; 2020 Feb 05; 501():110638. PubMed ID: 31751626
    [Abstract] [Full Text] [Related]

  • 20. New genetics in congenital hypothyroidism.
    Stoupa A, Kariyawasam D, Muzza M, de Filippis T, Fugazzola L, Polak M, Persani L, Carré A.
    Endocrine; 2021 Mar 05; 71(3):696-705. PubMed ID: 33650047
    [Abstract] [Full Text] [Related]

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