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Journal Abstract Search

338 related items for PubMed ID: 31430255

  • 1. 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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  • 2. Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ.
    Nicholas AK, Serra EG, Cangul H, Alyaarubi S, Ullah I, Schoenmakers E, Deeb A, Habeb AM, Almaghamsi M, Peters C, Nathwani N, Aycan Z, Saglam H, Bober E, Dattani M, Shenoy S, Murray PG, Babiker A, Willemsen R, Thankamony A, Lyons G, Irwin R, Padidela R, Tharian K, Davies JH, Puthi V, Park SM, Massoud AF, Gregory JW, Albanese A, Pease-Gevers E, Martin H, Brugger K, Maher ER, Chatterjee VK, Anderson CA, Schoenmakers N.
    J Clin Endocrinol Metab; 2016 Dec 26; 101(12):4521-4531. PubMed ID: 27525530
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  • 3. Identification and characterization of novel PAX8 mutations in Congenital Hypothyroidism(CH) in a Chinese population.
    Liu S, Wang X, Zou H, Ge Y, Wang F, Wang Y, Yan S, Xia H, Xing M.
    Oncotarget; 2017 Jan 31; 8(5):8707-8716. PubMed ID: 28060725
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  • 5. Targeted next-generation sequencing of thirteen causative genes in Chinese patients with congenital hypothyroidism.
    Long W, Lu G, Zhou W, Yang Y, Zhang B, Zhou H, Jiang L, Yu B.
    Endocr J; 2018 Oct 29; 65(10):1019-1028. PubMed ID: 30022773
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  • 6. 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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  • 8. High frequency of mutations in 'dyshormonogenesis genes' in severe congenital hypothyroidism.
    Makretskaya N, Bezlepkina O, Kolodkina A, Kiyaev A, Vasilyev EV, Petrov V, Kalinenkova S, Malievsky O, Dedov II, Tiulpakov A.
    PLoS One; 2018 May 01; 13(9):e0204323. PubMed ID: 30240412
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  • 9. Clinical and genetic investigation of 136 Japanese patients with congenital hypothyroidism.
    Tanaka T, Aoyama K, Suzuki A, Saitoh S, Mizuno H.
    J Pediatr Endocrinol Metab; 2020 May 29; 33(6):691-701. PubMed ID: 32469330
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  • 10. Iodide handling disorders (NIS, TPO, TG, IYD).
    Targovnik HM, Citterio CE, Rivolta CM.
    Best Pract Res Clin Endocrinol Metab; 2017 Mar 29; 31(2):195-212. PubMed ID: 28648508
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  • 13. 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 29; 77(1):86-101. PubMed ID: 35507000
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  • 14. 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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  • 15. Genetics of Gland-in-situ or Hypoplastic Congenital Hypothyroidism in Macedonia.
    Zdraveska N, Kocova M, Nicholas AK, Anastasovska V, Schoenmakers N.
    Front Endocrinol (Lausanne); 2020 May 12; 11():413. PubMed ID: 32765423
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  • 17. Genetic etiology in patients diagnosed with congenital hypothyroidism with new-generation sequencing: A single-center experience.
    Aytaç Kaplan EH, Mermer S.
    Arch Pediatr; 2024 Aug 12; 31(6):374-379. PubMed ID: 39003160
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