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Items: 1 to 20 of 155

1.

Association between an R338L mutation in the thyroid hormone receptor-beta gene and thyrotoxic features in two unrelated kindreds with resistance to thyroid hormone.

Menzaghi C, Balsamo A, Di Paola R, Gallone G, Rossi C, Tassi V, Fonzo D, De Filippis V.

Thyroid. 1999 Jan;9(1):1-6.

PMID:
10037068
2.

Five new families with resistance to thyroid hormone not caused by mutations in the thyroid hormone receptor beta gene.

Pohlenz J, Weiss RE, Macchia PE, Pannain S, Lau IT, Ho H, Refetoff S.

J Clin Endocrinol Metab. 1999 Nov;84(11):3919-28.

PMID:
10566629
3.

Genetic analyses and evaluation of peripheral parameters of thyroid hormone action for the differential diagnosis of RTH. A novel heterozygous missense mutation (M334T) discovered.

Mannavola D, Vannucchi G, Fugazzola L, Cerutti N, Persani L, Beck-Peccoz P.

J Endocrinol Invest. 2002 Feb;25(2):RC4-6.

PMID:
11929097
4.

Resistance to thyroid hormone.

Chatterjee VK.

Horm Res. 1997;48 Suppl 4:43-6. Review.

PMID:
9350446
5.

The variable clinical phenotype in thyroid hormone resistance syndrome.

Beck-Peccoz P, Chatterjee VK.

Thyroid. 1994 Summer;4(2):225-32. Review.

PMID:
7920008
6.

[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
7.

Resistance to thyroid hormone in a family with no TRbeta gene anomaly: pathogenic hypotheses.

Vlaeminck-Guillem V, Margotat A, Torresani J, D'herbomez M, Decoulx M, Wémeau JL.

Ann Endocrinol (Paris). 2000 Sep;61(3):194-9.

PMID:
10970943
8.

Clinical and hormonal outcome after two years of triiodothyroacetic acid treatment in a child with thyroid hormone resistance.

Radetti G, Persani L, Molinaro G, Mannavola D, Cortelazzi D, Chatterjee VK, Beck-Peccoz P.

Thyroid. 1997 Oct;7(5):775-8.

PMID:
9349583
9.

A novel point mutation in cluster 3 of the thyroid hormone receptor beta gene (P247L) causing mild resistance to thyroid hormone.

Pohlenz J, Manders L, Sadow PM, Kansal PC, Refetoff S, Weiss RE.

Thyroid. 1999 Dec;9(12):1195-203.

PMID:
10646658
10.

A novel point mutation of thyroid hormone receptor beta gene in a family with resistance to thyroid hormone.

Nagashima T, Yagi H, Nagashima K, Sakurai A, Onigata K, Nomura Y, Morikawa A, Matazow G, Couch RM, Weiss RE, Refetoff S.

Thyroid. 1997 Oct;7(5):771-3.

PMID:
9349582
11.

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
12.

Mosaicism of a thyroid hormone receptor-beta gene mutation in resistance to thyroid hormone.

Mamanasiri S, Yesil S, Dumitrescu AM, Liao XH, Demir T, Weiss RE, Refetoff S.

J Clin Endocrinol Metab. 2006 Sep;91(9):3471-7. Epub 2006 Jun 27.

PMID:
16804041
13.
14.

The first case of association between postpartum thyroiditis and thyroid hormone resistance in an Italian patient showing a novel p.V283A THRB mutation.

Paragliola RM, Concolino P, De Rosa A, Mello E, Zuppi C, Pontecorvi A, Capoluongo E, Corsello SM.

Thyroid. 2013 Apr;23(4):506-10. doi: 10.1089/thy.2012.0080. Epub 2013 Mar 18.

PMID:
23134553
15.

A novel resistance to thyroid hormone associated with a new mutation (T329N) in the thyroid hormone receptor beta gene.

Sarkissian G, Dace A, Mesmacque A, Bony-Trifunovic H, Malezet-Desmoulins C, Torresani J, Margotat A.

Thyroid. 1999 Feb;9(2):165-71.

PMID:
10090317
16.

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
17.

Introducing a point mutation identified in a patient with pituitary resistance to thyroid hormone (Arg 338 to Trp) into other mutant thyroid hormone receptors weakens their dominant negative activities.

Ando S, Nakamura H, Sasaki S, Nishiyama K, Kitahara A, Nagasawa S, Mikami T, Natsume H, Genma R, Yoshimi T.

J Endocrinol. 1996 Nov;151(2):293-300.

PMID:
8958790
18.

Thyroid hormone resistance.

Olateju TO, Vanderpump MP.

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

PMID:
17132274
19.

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