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Journal Abstract Search
204 related items for PubMed ID: 7550241
1. 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; 6(1):9-16. PubMed ID: 7550241 [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. 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 [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 Aug; 104 Suppl 4():121-3. PubMed ID: 8981018 [Abstract] [Full Text] [Related]
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 [Abstract] [Full Text] [Related]
7. Mutation analysis of thyroid peroxidase gene in Chinese patients with total iodide organification defect: identification of five novel mutations. Wu JY, Shu SG, Yang CF, Lee CC, Tsai FJ. J Endocrinol; 2002 Mar; 172(3):627-35. PubMed ID: 11874711 [Abstract] [Full Text] [Related]
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]