Citations for
1TIOD, TPO
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 37(1):124-8. Epub 2009 Nov 17. 2010
2TIOD, TPO
Thyroid peroxidase gene mutations causing congenital hypothyroidism in three Turkish families.
Ozbek MN, Uslu AB, Onenli-Mungan N, Yuksel B, Pohlenz J, Topaloglu AK.
J Pediatr Endocrinol Metab 22(11):1033-9. 2009
3TIOD, TPO
Congenital hypothyroidism caused by a novel homozygous mutation in the thyroid peroxidase gene.
Fuchs O, Pfarr N, Pohlenz J, Thanner F, Schmidt H.
J Pediatr Endocrinol Metab 21(11):1093-7. 2008
4TIOD, TPO
High prevalence of thyroid peroxidase gene mutations in patients with thyroid dyshormonogenesis.
Avbelj M, Tahirovic H, Debeljak M, Kusekova M, Toromanovic A, Krzisnik C, Battelino T.
Eur J Endocrinol 156(5):511-9. 2007
5TPO, SLC26A4, PDS, TIOD
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, MŸller-Forell W, Kopp P, Pohlenz J.
J Clin Endocrinol Metab 91(7):2678-81. Epub 2006 May 9. 2006
6TPO, TIOD
A novel mutation in the human thyroid peroxidase gene resulting in a total iodide organification defect.
Kotani T, et al.
J Endocrinol 160(2):267-73. 1999
7TPO, TIOD
Two different mutations in the thyroid peroxidase gene of a large inbred Amish kindred: power and limits of homozygosity mapping.
Pannain S, et al.
J Clin Endocrinol Metab 84(3):1061-71. 1999
8TPO, TIOD
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) 51(2):165-172 1999
9TPO, TIOD
Identification of five novel inactivating mutations in the human thyroid peroxidase gene by denaturing gradient gel electrophoresis.
Bikker H, et al.
Hum Mutat 6 : 9-16. 1995
10TPO, TIOD
Identification of a mutation in the coding sequence of the human thyroid peroxidase gene causing congenital goiter.
Abramowicz MJ, et al.
J Clin Invest 90 : 1200-1204. 1992
11TPO, TIOD
Genetic linkage studies of thyroid peroxidase (TPO) gene in families with TPO deficiency.
Mangklabruks A, et al.
J Clin Endocrinol Metab 72 : 471-476. 1991