164 related articles for article (PubMed ID: 16762971)
1. A novel hypothyroid dwarfism due to the missense mutation Arg479Cys of the thyroid peroxidase gene in the mouse.
Takabayashi S; Umeki K; Yamamoto E; Suzuki T; Okayama A; Katoh H
Mol Endocrinol; 2006 Oct; 20(10):2584-90. PubMed ID: 16762971
[TBL] [Abstract][Full Text] [Related]
2. Congenital hypothyroidism, dwarfism, and hearing impairment caused by a missense mutation in the mouse dual oxidase 2 gene, Duox2.
Johnson KR; Marden CC; Ward-Bailey P; Gagnon LH; Bronson RT; Donahue LR
Mol Endocrinol; 2007 Jul; 21(7):1593-602. PubMed ID: 17440044
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Hearing impairment in hypothyroid dwarf mice caused by mutations of the thyroid peroxidase gene.
Johnson KR; Gagnon LH; Longo-Guess CM; Harris BS; Chang B
J Assoc Res Otolaryngol; 2014 Feb; 15(1):45-55. PubMed ID: 24297261
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. 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]
8. 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]
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
[TBL] [Abstract][Full Text] [Related]
10. Inherited primary hypothyroidism in mice.
Beamer WJ; Eicher EM; Maltais LJ; Southard JL
Science; 1981 Apr; 212(4490):61-3. PubMed ID: 7209519
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
13. A missense mutation G2320R in the thyroglobulin gene causes non-goitrous congenital primary hypothyroidism in the WIC-rdw rat.
Kim PS; Ding M; Menon S; Jung CG; Cheng JM; Miyamoto T; Li B; Furudate S; Agui T
Mol Endocrinol; 2000 Dec; 14(12):1944-53. PubMed ID: 11117525
[TBL] [Abstract][Full Text] [Related]
14. A common thyroid peroxidase gene mutation (G319R) in Turkish patients with congenital hypothyroidism could be due to a founder effect.
Baş VN; Aycan Z; Cangul H; Kendall M; Ağladıoğlu SY; Çetinkaya S; Maher ER
J Pediatr Endocrinol Metab; 2014 Mar; 27(3-4):383-7. PubMed ID: 24158420
[TBL] [Abstract][Full Text] [Related]
15. Congenital primary hypothyroidism with subsequent adenomatous goiter in a Turkish patient caused by a homozygous 10-bp deletion in the thyroid peroxidase (TPO) gene.
Pfarr N; Musholt TJ; Musholt PB; Brzezinska R; Pohlenz J
Clin Endocrinol (Oxf); 2006 May; 64(5):514-8. PubMed ID: 16649969
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
18. 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
[TBL] [Abstract][Full Text] [Related]
19. A thyroid peroxidase (TPO) mutation in dogs reveals a canid-specific gene structure.
Fyfe JC; Lynch M; Olsen J; Louёr E
Mamm Genome; 2013 Apr; 24(3-4):127-33. PubMed ID: 23223904
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
