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

396 related items for PubMed ID: 17547680

  • 1. Two compound heterozygous mutations (c.215delA/c.2422T-->C and c.387delC/c.1159G-->A) in the thyroid peroxidase gene responsible for congenital goitre and iodide organification defect.
    Rivolta CM, Louis-Tisserand M, Varela V, Gruñeiro-Papendieck L, Chiesa A, González-Sarmiento R, Targovnik HM.
    Clin Endocrinol (Oxf); 2007 Aug; 67(2):238-46. PubMed ID: 17547680
    [Abstract] [Full Text] [Related]

  • 2. Five novel inactivating mutations in the thyroid peroxidase gene responsible for congenital goiter and iodide organification defect.
    Rivolta CM, Esperante SA, Gruñeiro-Papendieck L, Chiesa A, Moya CM, Domené S, Varela V, Targovnik HM.
    Hum Mutat; 2003 Sep; 22(3):259. PubMed ID: 12938097
    [Abstract] [Full Text] [Related]

  • 3. Congenital hypothyroidism with goitre caused by new mutations in the thyroglobulin gene.
    Caputo M, Rivolta CM, Esperante SA, Gruñeiro-Papendieck L, Chiesa A, Pellizas CG, González-Sarmiento R, Targovnik HM.
    Clin Endocrinol (Oxf); 2007 Sep; 67(3):351-7. PubMed ID: 17532758
    [Abstract] [Full Text] [Related]

  • 4. Congenital goitrous hypothyroidism: mutation analysis in the thyroid peroxidase gene.
    Belforte FS, Miras MB, Olcese MC, Sobrero G, Testa G, Muñoz L, Gruñeiro-Papendieck L, Chiesa A, González-Sarmiento R, Targovnik HM, Rivolta CM.
    Clin Endocrinol (Oxf); 2012 Apr; 76(4):568-76. PubMed ID: 21981063
    [Abstract] [Full Text] [Related]

  • 5. Clinical and genetic characteristics of congenital hypothyroidism due to mutations in the thyroid peroxidase (TPO) gene in Israelis.
    Tenenbaum-Rakover Y, Mamanasiri S, Ris-Stalpers C, German A, Sack J, Allon-Shalev S, Pohlenz J, Refetoff S.
    Clin Endocrinol (Oxf); 2007 May; 66(5):695-702. PubMed ID: 17381485
    [Abstract] [Full Text] [Related]

  • 6.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 7.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 8.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 9. Molecular analysis of congenital goitres with hypothyroidism caused by defective thyroglobulin synthesis. Identification of a novel c.7006C>T [p.R2317X] mutation and expression of minigenes containing nonsense mutations in exon 7.
    Machiavelli GA, Caputo M, Rivolta CM, Olcese MC, Gruñeiro-Papendieck L, Chiesa A, González-Sarmiento R, Targovnik HM.
    Clin Endocrinol (Oxf); 2010 Jan; 72(1):112-21. PubMed ID: 19438905
    [Abstract] [Full Text] [Related]

  • 10. Pseudodominant inheritance of goitrous congenital hypothyroidism caused by TPO mutations: molecular and in silico studies.
    Deladoëy J, Pfarr N, Vuissoz JM, Parma J, Vassart G, Biesterfeld S, Pohlenz J, Van Vliet G.
    J Clin Endocrinol Metab; 2008 Feb; 93(2):627-33. PubMed ID: 18029453
    [Abstract] [Full Text] [Related]

  • 11. 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 Feb; 75(8):633-7. PubMed ID: 26174974
    [Abstract] [Full Text] [Related]

  • 12. Screening for mutations of the human thyroid peroxidase gene in patients with congenital hypothyroidism.
    Grüters A, Köhler B, Wolf A, Söling A, de Vijlder L, Krude H, Biebermann H.
    Exp Clin Endocrinol Diabetes; 1996 Feb; 104 Suppl 4():121-3. PubMed ID: 8981018
    [Abstract] [Full Text] [Related]

  • 13. Goitrous congenital hypothyroidism and hearing impairment associated with mutations in the TPO and SLC26A4/PDS genes.
    Pfarr N, Borck G, Turk A, Napiontek U, Keilmann A, Müller-Forell W, Kopp P, Pohlenz J.
    J Clin Endocrinol Metab; 2006 Jul; 91(7):2678-81. PubMed ID: 16684826
    [Abstract] [Full Text] [Related]

  • 14. Congenital hypothyroidism caused by new mutations in the thyroid oxidase 2 (THOX2) gene.
    Pfarr N, Korsch E, Kaspers S, Herbst A, Stach A, Zimmer C, Pohlenz J.
    Clin Endocrinol (Oxf); 2006 Dec; 65(6):810-5. PubMed ID: 17121535
    [Abstract] [Full Text] [Related]

  • 15. Monoallelic thyroid peroxidase gene mutation in a patient with congenital hypothyroidism with total iodide organification defect.
    Neves SC, Mezalira PR, Dias VM, Chagas AJ, Viana M, Targovnik H, Knobel M, Medeiros-Neto G, Rubio IG.
    Arq Bras Endocrinol Metabol; 2010 Nov; 54(8):732-7. PubMed ID: 21340161
    [Abstract] [Full Text] [Related]

  • 16. 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]

  • 17. Monoallelic expression of mutant thyroid peroxidase allele causing total iodide organification defect.
    Fugazzola L, Cerutti N, Mannavola D, Vannucchi G, Fallini C, Persani L, Beck-Peccoz P.
    J Clin Endocrinol Metab; 2003 Jul 01; 88(7):3264-71. PubMed ID: 12843174
    [Abstract] [Full Text] [Related]

  • 18. Genetics and phenomics of hypothyroidism and goiter due to TPO mutations.
    Ris-Stalpers C, Bikker H.
    Mol Cell Endocrinol; 2010 Jun 30; 322(1-2):38-43. PubMed ID: 20153806
    [Abstract] [Full Text] [Related]

  • 19. Recurrence of the p.R277X/p.R1511X compound heterozygous mutation in the thyroglobulin gene in unrelated families with congenital goiter and hypothyroidism: haplotype analysis using intragenic thyroglobulin polymorphisms.
    Caputo M, Rivolta CM, Gutnisky VJ, Gruñeiro-Papendieck L, Chiesa A, Medeiros-Neto G, González-Sarmiento R, Targovnik HM.
    J Endocrinol; 2007 Oct 30; 195(1):167-77. PubMed ID: 17911408
    [Abstract] [Full Text] [Related]

  • 20. Two decades of screening for congenital hypothyroidism in The Netherlands: TPO gene mutations in total iodide organification defects (an update).
    Bakker B, Bikker H, Vulsma T, de Randamie JS, Wiedijk BM, De Vijlder JJ.
    J Clin Endocrinol Metab; 2000 Oct 30; 85(10):3708-12. PubMed ID: 11061528
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 20.