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Journal Abstract Search

348 related items for PubMed ID: 30022773

  • 1. 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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  • 2. 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 29; 178(6):623-633. PubMed ID: 29650690
    [Abstract] [Full Text] [Related]

  • 3. 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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  • 4. 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 29; 51(1):73-81. PubMed ID: 33653783
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  • 5. 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 29; 101(12):4521-4531. PubMed ID: 27525530
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  • 7. Next-generation sequencing of NKX2.1, FOXE1, PAX8, NKX2.5, and TSHR in 100 Chinese patients with congenital hypothyroidism and athyreosis.
    Wang F, Liu C, Jia X, Liu X, Xu Y, Yan S, Jia X, Huang Z, Liu S, Gu M.
    Clin Chim Acta; 2017 Jul 29; 470():36-41. PubMed ID: 28455095
    [Abstract] [Full Text] [Related]

  • 8. 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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  • 9. Newborn Screening and Molecular Profile of Congenital Hypothyroidism in a Chinese Population.
    Yu B, Long W, Yang Y, Wang Y, Jiang L, Cai Z, Wang H.
    Front Genet; 2018 Nov 26; 9():509. PubMed ID: 30420871
    [Abstract] [Full Text] [Related]

  • 10. 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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  • 11. 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
    [Abstract] [Full Text] [Related]

  • 12. 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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  • 15. 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 29; 22(1):297-309. PubMed ID: 32319661
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  • 16. Next-Generation Sequencing Analysis Reveals Frequent Familial Origin and Oligogenism in Congenital Hypothyroidism With Dyshormonogenesis.
    Oliver-Petit I, Edouard T, Jacques V, Bournez M, Cartault A, Grunenwald S, Savagner F.
    Front Endocrinol (Lausanne); 2021 Jul 29; 12():657913. PubMed ID: 34248839
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  • 17. Detection of Novel Gene Variants Associated with Congenital Hypothyroidism in a Finnish Patient Cohort.
    Löf C, Patyra K, Kuulasmaa T, Vangipurapu J, Undeutsch H, Jaeschke H, Pajunen T, Kero A, Krude H, Biebermann H, Kleinau G, Kühnen P, Rantakari K, Miettinen P, Kirjavainen T, Pursiheimo JP, Mustila T, Jääskeläinen J, Ojaniemi M, Toppari J, Ignatius J, Laakso M, Kero J.
    Thyroid; 2016 Sep 29; 26(9):1215-24. PubMed ID: 27373559
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  • 19. Screening of 23 candidate genes by next-generation sequencing of patients with permanent congenital hypothyroidism: novel variants in TG, TSHR, DUOX2, FOXE1, and SLC26A7.
    Acar S, Gürsoy S, Arslan G, Nalbantoğlu Ö, Hazan F, Köprülü Ö, Özkaya B, Özkan B.
    J Endocrinol Invest; 2022 Apr 29; 45(4):773-786. PubMed ID: 34780050
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  • 20. 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 29; 40(8):744-756. PubMed ID: 38923290
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