173 related articles for article (PubMed ID: 11916616)
1. 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]
2. 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]
3. 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]
4. 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]
5. 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]
6. Two novel mutations in the thyroid peroxidase gene with goitrous hypothyroidism.
Tajima T; Tsubaki J; Fujieda K
Endocr J; 2005 Oct; 52(5):643-5. PubMed ID: 16284446
[TBL] [Abstract][Full Text] [Related]
7. 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
[TBL] [Abstract][Full Text] [Related]
8. Pseudodominant inheritance of goitrous congenital hypothyroidism caused by TPO mutations: molecular and in silico studies.
Deladoëy J; Pfarr N; Vuissoz JM; Parma J; Vassart G; Biesterfeld S; Pohlenz J; Van Vliet G
J Clin Endocrinol Metab; 2008 Feb; 93(2):627-33. PubMed ID: 18029453
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. 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]
12. 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]
13. 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]
14. 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]
15. 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]
16. 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]
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. A Novel Missense Mutation in the Thyroid Peroxidase Gene, R175Q, Resulting in Insufficient Cell Surface Enzyme in Two Siblings.
Kotani T; Umeki K; Kawano J; Suganuma T; Yamamoto I; Aratake Y; Ichiba Y; Furujo M
Clin Pediatr Endocrinol; 2004; 13(1):37-46. PubMed ID: 24790296
[TBL] [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; 88(7):3264-71. PubMed ID: 12843174
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
