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Journal Abstract Search

417 related items for PubMed ID: 29650690

  • 1. 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]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. 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]

  • 4. 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
    [Abstract] [Full Text] [Related]

  • 5. 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
    [Abstract] [Full Text] [Related]

  • 6. Analysis of Mutation Spectra of 28 Pathogenic Genes Associated With Congenital Hypothyroidism in the Chinese Han Population.
    Huang M, Lu X, Dong G, Li J, Chen C, Yu Q, Li M, Su Y.
    Front Endocrinol (Lausanne); 2021 May 29; 12():695426. PubMed ID: 34276565
    [Abstract] [Full Text] [Related]

  • 7. 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 29; 11():413. PubMed ID: 32765423
    [Abstract] [Full Text] [Related]

  • 8. 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
    [Abstract] [Full Text] [Related]

  • 9. 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
    [Abstract] [Full Text] [Related]

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

  • 11. Genetics of primary congenital hypothyroidism-a review.
    Kostopoulou E, Miliordos K, Spiliotis B.
    Hormones (Athens); 2021 Jun 29; 20(2):225-236. PubMed ID: 33400193
    [Abstract] [Full Text] [Related]

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  • 13. 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
    [Abstract] [Full Text] [Related]

  • 14. Identification of a novel pax8 gene sequence variant in four members of the same family: from congenital hypothyroidism with thyroid hypoplasia to mild subclinical hypothyroidism.
    Vincenzi M, Camilot M, Ferrarini E, Teofoli F, Venturi G, Gaudino R, Cavarzere P, De Marco G, Agretti P, Dimida A, Tonacchera M, Boner A, Antoniazzi F.
    BMC Endocr Disord; 2014 Aug 22; 14():69. PubMed ID: 25146893
    [Abstract] [Full Text] [Related]

  • 15. 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 Aug 22; 13(9):e0204323. PubMed ID: 30240412
    [Abstract] [Full Text] [Related]

  • 16. Newborn screening and single nucleotide variation profiling of TSHR, TPO, TG and DUOX2 candidate genes for congenital hypothyroidism.
    Kollati Y, Akella RRD, Naushad SM, Borkar D, Thalla M, Nagalingam S, Lingappa L, Patel RK, Reddy GB, Dirisala VR.
    Mol Biol Rep; 2020 Oct 22; 47(10):7467-7475. PubMed ID: 32930933
    [Abstract] [Full Text] [Related]

  • 17. 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
    [Abstract] [Full Text] [Related]

  • 18. 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
    [Abstract] [Full Text] [Related]

  • 19. 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 01; 40(8):744-756. PubMed ID: 38923290
    [Abstract] [Full Text] [Related]

  • 20. 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]

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