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322 related items for PubMed ID: 17381485

  • 1. 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]

  • 2. 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]

  • 3. 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]

  • 4. Congenital primary hypothyroidism with subsequent adenomatous goiter in a Turkish patient caused by a homozygous 10-bp deletion in the thyroid peroxidase (TPO) gene.
    Pfarr N, Musholt TJ, Musholt PB, Brzezinska R, Pohlenz J.
    Clin Endocrinol (Oxf); 2006 May; 64(5):514-8. PubMed ID: 16649969
    [Abstract] [Full Text] [Related]

  • 5. 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 May; 104 Suppl 4():121-3. PubMed ID: 8981018
    [Abstract] [Full Text] [Related]

  • 6. Identification of five novel inactivating mutations in the human thyroid peroxidase gene by denaturing gradient gel electrophoresis.
    Bikker H, Vulsma T, Baas F, de Vijlder JJ.
    Hum Mutat; 1995 May; 6(1):9-16. PubMed ID: 7550241
    [Abstract] [Full Text] [Related]

  • 7. 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]

  • 8. Thyroperoxidase gene mutations in congenital goitrous hypothyroidism with total and partial iodide organification defect.
    Nascimento AC, Guedes DR, Santos CS, Knobel M, Rubio IG, Medeiros-Neto G.
    Thyroid; 2003 Dec; 13(12):1145-51. PubMed ID: 14751036
    [Abstract] [Full Text] [Related]

  • 9. Congenital goitrous primary hypothyroidism in two German families caused by novel thyroid peroxidase (TPO) gene mutations.
    Altmann K, Hermanns P, Mühlenberg R, Fricke-Otto S, Wentzell R, Pohlenz J.
    Exp Clin Endocrinol Diabetes; 2013 Jun; 121(6):343-6. PubMed ID: 23512414
    [Abstract] [Full Text] [Related]

  • 10. Analysis of TPO gene in Turkish children with iodide organification defect: identification of a novel mutation.
    Turkkahraman D, Alper OM, Pehlivanoglu S, Aydin F, Yildiz A, Luleci G, Akcurin S, Bircan I.
    Endocrine; 2010 Feb; 37(1):124-8. PubMed ID: 20963560
    [Abstract] [Full Text] [Related]

  • 11. Two novel mutations in the human thyroid peroxidase (TPO) gene: genetics and clinical findings in four children.
    Simm D, Pfarr N, Pohlenz J, Prawitt D, Dörr HG.
    Acta Paediatr; 2009 Jun; 98(6):1057-61. PubMed ID: 19243353
    [Abstract] [Full Text] [Related]

  • 12. Two different mutations in the thyroid peroxidase gene of a large inbred Amish kindred: power and limits of homozygosity mapping.
    Pannain S, Weiss RE, Jackson CE, Dian D, Beck JC, Sheffield VC, Cox N, Refetoff S.
    J Clin Endocrinol Metab; 1999 Mar; 84(3):1061-71. PubMed ID: 10084596
    [Abstract] [Full Text] [Related]

  • 13. A common thyroid peroxidase gene mutation (G319R) in Turkish patients with congenital hypothyroidism could be due to a founder effect.
    Baş VN, Aycan Z, Cangul H, Kendall M, Ağladıoğlu SY, Çetinkaya S, Maher ER.
    J Pediatr Endocrinol Metab; 2014 Mar; 27(3-4):383-7. PubMed ID: 24158420
    [Abstract] [Full Text] [Related]

  • 14. 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]

  • 15. Molecular characterization of three novel Fanconi anemia mutations in Israeli Arabs.
    Tamary H, Dgany O, Toledano H, Shalev Z, Krasnov T, Shalmon L, Schechter T, Bercovich D, Attias D, Laor R, Koren A, Yaniv I.
    Eur J Haematol; 2004 May; 72(5):330-5. PubMed ID: 15059067
    [Abstract] [Full Text] [Related]

  • 16. 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]

  • 17. Segregation of S292F TPO gene mutation in three large Tunisian families with thyroid dyshormonogenesis: evidence of a founder effect.
    Bougacha-Elleuch N, Charfi N, Miled N, Bouhajja H, Belguith N, Mnif M, Jaurge P, Chikhrouhou N, Ayadi H, Hachicha M, Abid M.
    Eur J Pediatr; 2015 Nov 30; 174(11):1491-501. PubMed ID: 25968604
    [Abstract] [Full Text] [Related]

  • 18. 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]

  • 19. 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]

  • 20. 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 Oct 30; 75(8):633-7. PubMed ID: 26174974
    [Abstract] [Full Text] [Related]

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