These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

178 related items for PubMed ID: 25241611

  • 1. One Base Deletion (c.2422delT) in the TPO Gene Causes Severe Congenital Hypothyroidism.
    Cangül H, Doğan M, Sağlam Y, Kendall M, Boelaert K, Barrett TG, Maher ER.
    J Clin Res Pediatr Endocrinol; 2014 Sep; 6(3):169-73. PubMed ID: 25241611
    [Abstract] [Full Text] [Related]

  • 2. A truncating TPO mutation (Y55X) in patients with hypothyroidism and total iodide organification defect.
    Cangul H, Darendeliler F, Saglam Y, Kucukemre B, Kendall M, Boelaert K, Barrett TG, Maher ER.
    Endocr Res; 2015 Sep; 40(3):146-50. PubMed ID: 25328990
    [Abstract] [Full Text] [Related]

  • 3. A Homozygous Nonsense Thyroid Peroxidase Mutation (R540X) Consistently Causes Congenital Hypothyroidism in Two Siblings Born to a Consanguineous Family.
    Cangül H, Doğan M, Üstek D.
    J Clin Res Pediatr Endocrinol; 2015 Dec; 7(4):323-8. PubMed ID: 26777044
    [Abstract] [Full Text] [Related]

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

  • 5. Novel genetic variants in the TPO gene cause congenital hypothyroidism.
    Ma SG, Qiu YL, Zhu H, Liu H, Li Q, Ji CM.
    Scand J Clin Lab Invest; 2015 May 12; 75(8):633-7. PubMed ID: 26174974
    [Abstract] [Full Text] [Related]

  • 6. A Homozygous TPO Gene Duplication (c.1184_1187dup4) Causes Congenital Hypothyroidism in Three Siblings Born to a Consanguineous Family.
    Cangul H, Aydin BK, Bas F.
    J Pediatr Genet; 2015 Dec 12; 4(4):194-8. PubMed ID: 27617131
    [Abstract] [Full Text] [Related]

  • 7. 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
    [Abstract] [Full Text] [Related]

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

  • 9. Compound heterozygous mutations (p.T561M and c.2422delT) in the TPO gene associated with congenital hypothyroidism.
    Ma SG, Zheng X, Qiu YL, Guo ML, Shao XJ.
    J Pediatr Endocrinol Metab; 2016 May 01; 29(5):567-70. PubMed ID: 27135621
    [Abstract] [Full Text] [Related]

  • 10.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 11.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 12. Case Report: Functional Analysis and Neuropsychological Evaluation of Dyshormonogenetic Fetal Goiter in Siblings Caused by Novel Compound Hyterozygous TPO Gene Mutations.
    Rodrigues TMB, Silva MMDC, Freitas MM, Duarte ZMC, Frutuoso VS, Rodrigues MT, Rubio IGS.
    Front Endocrinol (Lausanne); 2021 May 01; 12():671659. PubMed ID: 34220711
    [Abstract] [Full Text] [Related]

  • 13. A truncating DUOX2 mutation (R434X) causes severe congenital hypothyroidism.
    Cangul H, Aycan Z, Kendall M, Bas VN, Saglam Y, Barrett TG, Maher ER.
    J Pediatr Endocrinol Metab; 2014 Mar 01; 27(3-4):323-7. PubMed ID: 24127536
    [Abstract] [Full Text] [Related]

  • 14.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 15. [Mutation of thyroid peroxidase gene in 35 patients with congenital hypothyroidism].
    Li HF, Liu YX, Xie JS, Chen B, Li SL.
    Zhonghua Er Ke Za Zhi; 2011 Aug 01; 49(8):626-30. PubMed ID: 22093430
    [Abstract] [Full Text] [Related]

  • 16. Congenital Hypothyroidism due to Oligogenic Mutations in Two Sudanese Families.
    Watanabe Y, Bruellman RJ, Ebrhim RS, Abdullah MA, Dumitrescu AM, Refetoff S, Weiss RE.
    Thyroid; 2019 Feb 01; 29(2):302-304. PubMed ID: 30375286
    [Abstract] [Full Text] [Related]

  • 17. 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]

  • 18.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 19. The Missense Alteration A5T of the Thyroid Peroxidase Gene is Pathogenic and Associated with Mild Congenital Hypothyroidism.
    Cangül H, Demir K, Babayiğit HÖ, Abacı A, Böber E.
    J Clin Res Pediatr Endocrinol; 2015 Sep 31; 7(3):238-41. PubMed ID: 26831560
    [Abstract] [Full Text] [Related]

  • 20.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 9.