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Items: 1 to 20 of 189

1.

Molecular screening of the TSH receptor (TSHR) and thyroid peroxidase (TPO) genes in Korean patients with nonsyndromic congenital hypothyroidism.

Lee ST, Lee DH, Kim JY, Kwon MJ, Kim JW, Hong YH, Lee YW, Ki CS.

Clin Endocrinol (Oxf). 2011 Nov;75(5):715-21. doi: 10.1111/j.1365-2265.2011.04156.x.

PMID:
21707688
2.

The coexistence of a novel inactivating mutant thyrotropin receptor allele with two thyroid peroxidase mutations: a genotype-phenotype correlation.

Sriphrapradang C, Tenenbaum-Rakover Y, Weiss M, Barkoff MS, Admoni O, Kawthar D, Caltabiano G, Pardo L, Dumitrescu AM, Refetoff S.

J Clin Endocrinol Metab. 2011 Jun;96(6):E1001-6. doi: 10.1210/jc.2011-0127. Epub 2011 Apr 13.

3.

R450H TSH receptor mutation in congenital hypothyroidism in Taiwanese children.

Chang WC, Liao CY, Chen WC, Fan YC, Chiu SJ, Kuo HC, Woon PY, Chao MC.

Clin Chim Acta. 2012 Jun 14;413(11-12):1004-7. doi: 10.1016/j.cca.2012.02.027. Epub 2012 Mar 1.

PMID:
22405933
4.

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
5.

TSHR mutations as a cause of congenital hypothyroidism in Japan: a population-based genetic epidemiology study.

Narumi S, Muroya K, Abe Y, Yasui M, Asakura Y, Adachi M, Hasegawa T.

J Clin Endocrinol Metab. 2009 Apr;94(4):1317-23. doi: 10.1210/jc.2008-1767. Epub 2009 Jan 21.

PMID:
19158199
6.

[The thyroid as a model for molecular mechanisms in genetic diseases].

Rivolta CM, Moya CM, Esperante SA, Gutnisky VJ, Varela V, Targovnik HM.

Medicina (B Aires). 2005;65(3):257-67. Review. Spanish.

PMID:
16042141
7.

Thyrotropin receptor and thyroid transcription factor-1 genes variant in Chinese children with congenital hypothyroidism.

Yuan ZF, Mao HQ, Luo YF, Wu YD, Shen Z, Zhao ZY.

Endocr J. 2008 May;55(2):415-23. Epub 2008 Apr 1.

8.

Mild congenital primary hypothyroidism in a Turkish family caused by a homozygous missense thyrotropin receptor (TSHR) gene mutation (A593 V).

Fricke-Otto S, Pfarr N, Mühlenberg R, Pohlenz J.

Exp Clin Endocrinol Diabetes. 2005 Dec;113(10):582-5.

PMID:
16320156
9.
10.

Nonclassic TSH resistance: TSHR mutation carriers with discrepantly high thyroidal iodine uptake.

Narumi S, Nagasaki K, Ishii T, Muroya K, Asakura Y, Adachi M, Hasegawa T.

J Clin Endocrinol Metab. 2011 Aug;96(8):E1340-5. doi: 10.1210/jc.2011-0070. Epub 2011 Jun 15.

PMID:
21677043
11.

Functional studies of new TSH receptor (TSHr) mutations identified in patients affected by hypothyroidism or isolated hyperthyrotrophinaemia.

De Marco G, Agretti P, Camilot M, Teofoli F, Tatò L, Vitti P, Pinchera A, Tonacchera M.

Clin Endocrinol (Oxf). 2009 Feb;70(2):335-8. doi: 10.1111/j.1365-2265.2008.03333.x. Epub 2008 Aug 22.

PMID:
18727713
12.

DUOX2 Mutations Are Frequently Associated With Congenital Hypothyroidism in the Korean Population.

Park KJ, Park HK, Kim YJ, Lee KR, Park JH, Park JH, Park HD, Lee SY, Kim JW.

Ann Lab Med. 2016 Mar;36(2):145-53. doi: 10.3343/alm.2016.36.2.145.

13.

The R450H mutation and D727E polymorphism of the thyrotropin receptor gene in a Chinese child with congenital hypothyroidism.

Ma SG, Fang PH, Hong B, Yu WN.

J Pediatr Endocrinol Metab. 2010 Dec;23(12):1339-44.

PMID:
21714469
14.

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
15.

Monoallelic thyroid peroxidase gene mutation in a patient with congenital hypothyroidism with total iodide organification defect.

Neves SC, Mezalira PR, Dias VM, Chagas AJ, Viana M, Targovnik H, Knobel M, Medeiros-Neto G, Rubio IG.

Arq Bras Endocrinol Metabol. 2010 Nov;54(8):732-7.

16.

Congenital goitrous hypothyroidism: mutation analysis in the thyroid peroxidase gene.

Belforte FS, Miras MB, Olcese MC, Sobrero G, Testa G, Muñoz L, Gruñeiro-Papendieck L, Chiesa A, González-Sarmiento R, Targovnik HM, Rivolta CM.

Clin Endocrinol (Oxf). 2012 Apr;76(4):568-76. doi: 10.1111/j.1365-2265.2011.04249.x.

PMID:
21981063
17.

High frequency of DUOX2 mutations in transient or permanent congenital hypothyroidism with eutopic thyroid glands.

Jin HY, Heo SH, Kim YM, Kim GH, Choi JH, Lee BH, Yoo HW.

Horm Res Paediatr. 2014;82(4):252-60. doi: 10.1159/000362235. Epub 2014 Sep 20.

PMID:
25248169
18.

Next-generation sequencing analysis of TSHR in 384 Chinese subclinical congenital hypothyroidism (CH) and CH patients.

Fu C, Wang J, Luo S, Yang Q, Li Q, Zheng H, Hu X, Su J, Zhang S, Chen R, Luo J, Zhang Y, Shen Y, Wei H, Meng D, Gui B, Zeng Z, Fan X, Chen S.

Clin Chim Acta. 2016 Nov 1;462:127-132. doi: 10.1016/j.cca.2016.09.007. Epub 2016 Sep 13.

PMID:
27637299
19.

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
20.

[Thyrotropin receptor gene inactivating mutation in Chinese children with congenital hypothyroidism].

Yuan ZF, Luo YF, Wu YD, Shen Z, Zhao ZY.

Zhonghua Er Ke Za Zhi. 2007 Jul;45(7):508-12. Chinese.

PMID:
17953807

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