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Journal Abstract Search

204 related items for PubMed ID: 7550241

  • 1.
    ; . PubMed ID:
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  • 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. 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]

  • 4. 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
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  • 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 Aug; 104 Suppl 4():121-3. PubMed ID: 8981018
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  • 6. 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
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  • 8. Identification of a mutation in the coding sequence of the human thyroid peroxidase gene causing congenital goiter.
    Abramowicz MJ, Targovnik HM, Varela V, Cochaux P, Krawiec L, Pisarev MA, Propato FV, Juvenal G, Chester HA, Vassart G.
    J Clin Invest; 1992 Oct; 90(4):1200-4. PubMed ID: 1401057
    [Abstract] [Full Text] [Related]

  • 9. Congenital hypothyroidism caused by a premature termination signal in exon 10 of the human thyroid peroxidase gene.
    Bikker H, Waelkens JJ, Bravenboer B, de Vijlder JJ.
    J Clin Endocrinol Metab; 1996 Jun; 81(6):2076-9. PubMed ID: 8964831
    [Abstract] [Full Text] [Related]

  • 10. A novel mutation in the TPO gene in goitrous hypothyroid patients with iodide organification defect.
    Santos CL, Bikker H, Rego KG, Nascimento AC, Tambascia M, De Vijlder JJ, Medeiros-Neto G.
    Clin Endocrinol (Oxf); 1999 Aug; 51(2):165-72. PubMed ID: 10468986
    [Abstract] [Full Text] [Related]

  • 11. A 20-basepair duplication in the human thyroid peroxidase gene results in a total iodide organification defect and congenital hypothyroidism.
    Bikker H, den Hartog MT, Baas F, Gons MH, Vulsma T, de Vijlder JJ.
    J Clin Endocrinol Metab; 1994 Jul; 79(1):248-52. PubMed ID: 8027236
    [Abstract] [Full Text] [Related]

  • 12. 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; 85(10):3708-12. PubMed ID: 11061528
    [Abstract] [Full Text] [Related]

  • 13. Alport syndrome. Molecular genetic aspects.
    Hertz JM.
    Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
    [Abstract] [Full Text] [Related]

  • 14. A directed search for mutations in hemophilia A using restriction enzyme analysis and denaturing gradient gel electrophoresis. A study of seven exons in the factor VIII gene of 170 cases.
    Lavergne JM, Bahnak BR, Vidaud M, Laurian Y, Meyer D.
    Nouv Rev Fr Hematol (1978); 1992 Aug; 34(1):85-91. PubMed ID: 1523102
    [Abstract] [Full Text] [Related]

  • 15. 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]

  • 16. 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]

  • 17. 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]

  • 18. Mutations in MYOC gene of Indian primary open angle glaucoma patients.
    Mukhopadhyay A, Acharya M, Mukherjee S, Ray J, Choudhury S, Khan M, Ray K.
    Mol Vis; 2002 Nov 15; 8():442-8. PubMed ID: 12447164
    [Abstract] [Full Text] [Related]

  • 19. 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 15; 88(7):3264-71. PubMed ID: 12843174
    [Abstract] [Full Text] [Related]

  • 20. Use of the denaturing gradient gel electrophoresis (DGGE) method for mutational screening of patients with familial hypercholesterolaemia (FH) and Familial defective apolipoprotein B100 (FDB).
    Azian M, Hapizah MN, Khalid BA, Khalid Y, Rosli A, Jamal R.
    Malays J Pathol; 2006 Jun 15; 28(1):7-15. PubMed ID: 17694954
    [Abstract] [Full Text] [Related]

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