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Similar articles for PubMed (Select 20101889)

1.

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. 2009 Nov;22(11):1033-9.

PMID:
20101889
2.

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. doi: 10.1515/jpem-2013-0203.

PMID:
24158420
3.

Clinical and genetic characteristics of congenital hypothyroidism due to mutations in the thyroid peroxidase (TPO) gene in Israelis.

Tenenbaum-Rakover Y, Mamanasiri S, Ris-Stalpers C, German A, Sack J, Allon-Shalev S, Pohlenz J, Refetoff S.

Clin Endocrinol (Oxf). 2007 May;66(5):695-702. Epub 2007 Mar 23.

PMID:
17381485
4.

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. doi: 10.1055/s-0033-1333766. Epub 2013 Mar 19.

PMID:
23512414
5.

Recurrence of the p.R277X/p.R1511X compound heterozygous mutation in the thyroglobulin gene in unrelated families with congenital goiter and hypothyroidism: haplotype analysis using intragenic thyroglobulin polymorphisms.

Caputo M, Rivolta CM, Gutnisky VJ, Gruñeiro-Papendieck L, Chiesa A, Medeiros-Neto G, González-Sarmiento R, Targovnik HM.

J Endocrinol. 2007 Oct;195(1):167-77.

6.

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. Review.

PMID:
16649969
7.

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. doi: 10.1007/s12020-009-9280-1. Epub 2009 Nov 17.

PMID:
20963560
8.

Molecular analysis of congenital goitres with hypothyroidism caused by defective thyroglobulin synthesis. Identification of a novel c.7006C>T [p.R2317X] mutation and expression of minigenes containing nonsense mutations in exon 7.

Machiavelli GA, Caputo M, Rivolta CM, Olcese MC, Gruñeiro-Papendieck L, Chiesa A, González-Sarmiento R, Targovnik HM.

Clin Endocrinol (Oxf). 2010 Jan;72(1):112-21. doi: 10.1111/j.1365-2265.2009.03621.x. Epub 2009 May 2.

PMID:
19438905
9.

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.

PMID:
14751036
10.

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.

11.

Two novel mutations in the human thyroid peroxidase (TPO) gene: genetics and clinical findings in four children.

Simm D, Pfarr N, Pohlenz J, Prawitt D, Dörr HG.

Acta Paediatr. 2009 Jun;98(6):1057-61. doi: 10.1111/j.1651-2227.2009.01236.x. Epub 2009 Feb 20.

PMID:
19243353
12.

Novel mutations of the thyroid peroxidase gene in patients with permanent congenital hypothyroidism.

Ambrugger P, Stoeva I, Biebermann H, Torresani T, Leitner C, Grüters A.

Eur J Endocrinol. 2001 Jul;145(1):19-24.

13.
14.

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. 2007 May;156(5):511-9.

15.

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. 2008 Nov;21(11):1093-7.

PMID:
19189706
16.

Congenital hypothyroidism caused by a unique thyroid peroxidase allele containing two mutations, C1708T and C2737T.

Umeki K, Yamamoto I, Yukizane S, Kotani T.

J Pediatr Endocrinol Metab. 2004 Feb;17(2):231-4.

PMID:
15055360
17.

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. Epub 2007 Nov 20.

PMID:
18029453
18.

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.

PMID:
8981018
19.

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.

PMID:
10084596
20.

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.

PMID:
12938097
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