159 related articles for article (PubMed ID: 9024270)
1. 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]
2. 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]
3. Defective organification of iodide causing congenital goitrous hypothyroidism.
Ishikawa N; Eguchi K; Ohmori T; Momotani N; Nagayama Y; Hosoya T; Oguchi H; Mimura T; Kimura S; Nagataki S; Ito K
J Clin Endocrinol Metab; 1996 Jan; 81(1):376-83. PubMed ID: 8550781
[TBL] [Abstract][Full Text] [Related]
4. Partial iodide organification defect caused by a novel mutation of the thyroid peroxidase gene in three siblings.
Kotani T; Umeki K; Kawano J; Suganuma T; Hishinuma A; Ieiri T; Harada S
Clin Endocrinol (Oxf); 2003 Aug; 59(2):198-206. PubMed ID: 12864797
[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. 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]
7. Two novel missense mutations in the thyroid peroxidase gene, R665W and G771R, result in a localization defect and cause congenital hypothyroidism.
Umeki K; Kotani T; Kawano J; Suganuma T; Yamamoto I; Aratake Y; Furujo M; Ichiba Y
Eur J Endocrinol; 2002 Apr; 146(4):491-8. PubMed ID: 11916616
[TBL] [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
[TBL] [Abstract][Full Text] [Related]
9. Thyroid peroxidase in dyshormonogenetic goiters with organification and thyroglobulin defects.
de Carvalho DP; Rego KG; Rosenthal D
Thyroid; 1994; 4(4):421-6. PubMed ID: 7711505
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Defective organification of iodide causing hereditary goitrous hypothyroidism.
Medeiros-Neto GA; Billerbeck AE; Wajchenberg BL; Targovnik HM
Thyroid; 1993; 3(2):143-59. PubMed ID: 8369653
[TBL] [Abstract][Full Text] [Related]
12. 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; 88(7):3264-71. PubMed ID: 12843174
[TBL] [Abstract][Full Text] [Related]
13. 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
[TBL] [Abstract][Full Text] [Related]
14. Total iodide organification defect: clinical and molecular characterization of an Italian family.
Fugazzola L; Mannavola D; Vigone MC; Cirello V; Weber G; Beck-Peccoz P; Persani L
Thyroid; 2005 Sep; 15(9):1085-8. PubMed ID: 16187919
[TBL] [Abstract][Full Text] [Related]
15. 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]
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]
17. 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]
18. Iodide organification defects resulting from cosegregation of mutated and null thyroid peroxidase alleles.
Kotani T; Umeki K; Yamamoto I; Ohtaki S; Adachi M; Tachibana K
Mol Cell Endocrinol; 2001 Aug; 182(1):61-8. PubMed ID: 11500239
[TBL] [Abstract][Full Text] [Related]
19. 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; 104 Suppl 4():121-3. PubMed ID: 8981018
[TBL] [Abstract][Full Text] [Related]
20. Genetics and phenomics of hypothyroidism and goiter due to TPO mutations.
Ris-Stalpers C; Bikker H
Mol Cell Endocrinol; 2010 Jun; 322(1-2):38-43. PubMed ID: 20153806
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]