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Items: 1 to 20 of 140

1.

A mutation in thyroid hormone receptor beta causing "resistance to thyroid hormone" in a neonate.

Cömert S, Akin Y, Vitrinel A, Telatar B, Ağikuru T, Gözü H, Bircan R, Turan S.

Minerva Pediatr. 2010 Aug;62(4):419-22.

PMID:
20940675
2.

Resistance to thyroid hormone in a Turkish child with A317T mutation in the thyroid hormone receptor-beta gene.

Poyrazoğlu S, Tütüncüler F, Baş F, Darendeliler F.

Turk J Pediatr. 2008 Nov-Dec;50(6):577-80.

3.

A novel mutation (E333D) in the thyroid hormone beta receptor causing resistance to thyroid hormone syndrome.

Maraninchi M, Bourcigaux N, Dace A, El-Yazidi C, Malezet-Desmoulins C, Krempf M, Torresani J, Margotat A.

Exp Clin Endocrinol Diabetes. 2006 Nov;114(10):569-76.

PMID:
17177139
4.

A novel 1297-1304delGCCTGCCA mutation in the exon 10 of the thyroid hormone receptor beta gene causes resistance to thyroid hormone.

Rivolta CM, Mallea Gil MS, Ballarino C, Ridruejo MC, Miguel CM, Gimenez SB, Bernacchi SS, Targovnik HM.

Mol Diagn. 2004;8(3):163-9.

PMID:
15771554
5.

A case of Resistance to Thyroid Hormone without mutation in the thyroid hormone receptor beta.

McDermott JH, Agha A, McMahon M, Gasparro D, Moeller L, Dumitrescu AM, Refetoff S, Sreenan S.

Ir J Med Sci. 2005 Oct-Dec;174(4):60-4.

PMID:
16445164
6.

A novel mutation (M310L) in the thyroid hormone receptor beta causing resistance to thyroid hormone in a Brazilian kindred and a neonate.

Furlanetto TW, Kopp P, Peccin S, Gu WX, Jameson JL.

Mol Genet Metab. 2000 Nov;71(3):520-6.

PMID:
11073720
7.
9.

Thyroid hormone resistance.

Olateju TO, Vanderpump MP.

Ann Clin Biochem. 2006 Nov;43(Pt 6):431-40. Review.

PMID:
17132274
10.

Is there a role for inherited TRβ mutation in human carcinogenesis? [corrected].

Weinert LS, Ceolin L, Romitti M, Camargo EG, Maia AL.

Arq Bras Endocrinol Metabol. 2012 Feb;56(1):67-71. Review. Erratum in: Arq Bras Endocrinol Metabol. 2012 Mar;56(2):152.

11.

Clinical features and genetic analysis of four Brazilian kindreds with resistance to thyroid hormone.

Magalhães PK, Rodrigues Dare GL, Rodrigues Dos Santos S, Nogueira CR, de Castro M, Zanini Maciel LM.

Clin Endocrinol (Oxf). 2007 Nov;67(5):748-53. Epub 2007 Jul 4.

PMID:
17610520
12.

A novel mutation of thyroid hormone receptor beta (I431V) impairs corepressor release, and induces thyroid hormone resistance syndrome.

Ferreira Azevedo M, Barra GB, Medeiros LD, Simeoni LA, Naves LA, Neves Fde A.

Arq Bras Endocrinol Metabol. 2008 Nov;52(8):1304-12.

13.

Thyroid hormone resistance without mutations in thyroid hormone receptor beta.

Bottcher Y, Paufler T, Stehr T, Bertschat FL, Paschke R, Koch CA.

Med Sci Monit. 2007 Jun;13(6):CS67-70.

PMID:
17534237
14.

Thyroid hormone receptor beta gene mutation (P453A) in a family producing resistance to thyroid hormone.

Bayraktaroglu T, Noel J, Alagol F, Colak N, Mukaddes NM, Refetoff S.

Exp Clin Endocrinol Diabetes. 2009 Jan;117(1):34-7. doi: 10.1055/s-2008-1076712. Epub 2008 Jun 17.

PMID:
18561095
15.

Resistance to thyroid hormone with missense mutation (V349M) in the thyroid hormone receptor beta gene.

Kim JY, Choi ES, Lee JC, Lee KU, Kim YJ, Kim SJ, Lee YW.

Korean J Intern Med. 2008 Mar;23(1):45-8.

16.
17.

Detection of a new de novo mutation at codon 251 of exon 8 of thyroid hormone receptor beta gene in an Italian kindred with resistance to thyroid hormone.

Macchia E, Agostini M, Sarkissian G, Giorgilli G, Canale D, Scartabelli G, Margotat A, Torresani J, Pinchera A.

J Endocrinol Invest. 1998 Apr;21(4):226-33.

PMID:
9624596
18.

[Thyroid hormone resistance: variable clinical manifestations in five patients].

Reinhardt W, Jockenhövel F, Deuble J, Chatterjee VK, Reinwein D, Mann K.

Nuklearmedizin. 1997 Oct;36(7):250-5. German.

PMID:
9441285
19.

E449X mutation in the thyroid hormone receptor beta associated with autoimmune thyroid disease and severe neuropsychomotor involvement.

Gurgel MH, Montenegro Junior RM, Magalhaes RA, Lima GE, Montenegro RM, Magalhães PK, Maciel LM.

Arq Bras Endocrinol Metabol. 2008 Nov;52(8):1205-10.

20.

Biochemical characterization of four novel mutations in the thyroid hormone receptor beta gene in patients with resistance to thyroid hormone.

Asadi AB, Torjesen PA, Haug E, Berg JP.

Scand J Clin Lab Invest. 2008;68(7):563-7. doi: 10.1080/00365510701884592.

PMID:
19378427
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