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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 [TBL] [Abstract][Full Text] [Related]
5. 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 [TBL] [Abstract][Full Text] [Related]
6. High prevalence of a novel mutation (2268 insT) of the thyroid peroxidase gene in Taiwanese patients with total iodide organification defect, and evidence for a founder effect. Niu DM; Hwang B; Chu YK; Liao CJ; Wang PL; Lin CY J Clin Endocrinol Metab; 2002 Sep; 87(9):4208-12. PubMed ID: 12213873 [TBL] [Abstract][Full Text] [Related]
7. 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 [TBL] [Abstract][Full Text] [Related]
8. 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 [TBL] [Abstract][Full Text] [Related]
9. 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 [TBL] [Abstract][Full Text] [Related]
10. Molecular analysis of mutated thyroid peroxidase detected in patients with total iodide organification defects. Bikker H; Baas F; De Vijlder JJ J Clin Endocrinol Metab; 1997 Feb; 82(2):649-53. PubMed ID: 9024270 [TBL] [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 [TBL] [Abstract][Full Text] [Related]
13. 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 [TBL] [Abstract][Full Text] [Related]
14. 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 [TBL] [Abstract][Full Text] [Related]
15. A novel mutation in the human thyroid peroxidase gene resulting in a total iodide organification defect. Kotani T; Umeki K; Yamamoto I; Maesaka H; Tachibana K; Ohtaki S J Endocrinol; 1999 Feb; 160(2):267-73. PubMed ID: 9924196 [TBL] [Abstract][Full Text] [Related]
16. 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 [TBL] [Abstract][Full Text] [Related]
18. Loss of heterozygocity at the thyroid peroxidase gene locus in solitary cold thyroid nodules. Krohn K; Paschke R Thyroid; 2001 Aug; 11(8):741-7. PubMed ID: 11525266 [TBL] [Abstract][Full Text] [Related]
19. 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 [TBL] [Abstract][Full Text] [Related]
20. 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 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]