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Results: 1 to 20 of 122

1.

Homozygous thyroid hormone receptor β-gene mutations in resistance to thyroid hormone: three new cases and review of the literature.

Ferrara AM, Onigata K, Ercan O, Woodhead H, Weiss RE, Refetoff S.

J Clin Endocrinol Metab. 2012 Apr;97(4):1328-36. doi: 10.1210/jc.2011-2642. Epub 2012 Feb 8. Review.

PMID:
22319036
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

A novel p.E311K mutation of thyroid receptor beta gene in resistance to thyroid hormone syndrome, inherited in autosomal recessive trait.

Slezak R, Lukienczuk T, Noczynska A, Karpinski P, Lebioda A, Misiak B, Sasiadek MM.

Horm Metab Res. 2012 Sep;44(9):704-7. doi: 10.1055/s-0032-1312666. Epub 2012 Jun 13.

PMID:
22696245
[PubMed - indexed for MEDLINE]
3.

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
[PubMed - indexed for MEDLINE]
4.

[Clinical and molecular study of five families with resistance to thyroid hormones].

Lado Abeal J, Albero Gamboa R, Araujo Vilar D, Barca Mallo O, Bernabeú Moron I, Calvo MT, Castro Piedras I, Martin Calamata J, Palos Paz F, Peinó R, Peteiro D, Victoria B.

Med Clin (Barc). 2011 Nov 12;137(12):551-4. doi: 10.1016/j.medcli.2010.11.037. Epub 2011 Jun 23. Spanish.

PMID:
21703645
[PubMed - indexed for MEDLINE]
5.

A de novo mutation in an already mutant nucleotide of the thyroid hormone receptor beta gene perpetuates resistance to thyroid hormone.

Lado-Abeal J, Dumitrescu AM, Liao XH, Cohen RN, Pohlenz J, Weiss RE, Lebrethon MC, Verloes A, Refetoff S.

J Clin Endocrinol Metab. 2005 Mar;90(3):1760-7. Epub 2004 Dec 14.

PMID:
15598685
[PubMed - indexed for MEDLINE]
6.

Recessive resistance to thyroid hormone in mice lacking thyroid hormone receptor beta: evidence for tissue-specific modulation of receptor function.

Forrest D, Hanebuth E, Smeyne RJ, Everds N, Stewart CL, Wehner JM, Curran T.

EMBO J. 1996 Jun 17;15(12):3006-15.

PMID:
8670802
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

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
[PubMed - indexed for MEDLINE]
8.

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
[PubMed - indexed for MEDLINE]
9.

A novel thyroid hormone receptor-beta mutation that fails to bind nuclear receptor corepressor in a patient as an apparent cause of severe, predominantly pituitary resistance to thyroid hormone.

Wu SY, Cohen RN, Simsek E, Senses DA, Yar NE, Grasberger H, Noel J, Refetoff S, Weiss RE.

J Clin Endocrinol Metab. 2006 May;91(5):1887-95. Epub 2006 Feb 7.

PMID:
16464943
[PubMed - indexed for MEDLINE]
10.

An intronic SNP in the thyroid hormone receptor β gene is associated with pituitary cell-specific over-expression of a mutant thyroid hormone receptor β2 (R338W) in the index case of pituitary-selective resistance to thyroid hormone.

Alberobello AT, Congedo V, Liu H, Cochran C, Skarulis MC, Forrest D, Celi FS.

J Transl Med. 2011 Aug 26;9:144. doi: 10.1186/1479-5876-9-144.

PMID:
21871106
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Resistance to thyroid hormone is modulated in vivo by the nuclear receptor corepressor (NCOR1).

Fozzatti L, Lu C, Kim DW, Park JW, Astapova I, Gavrilova O, Willingham MC, Hollenberg AN, Cheng SY.

Proc Natl Acad Sci U S A. 2011 Oct 18;108(42):17462-7. doi: 10.1073/pnas.1107474108. Epub 2011 Oct 10.

PMID:
21987803
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Thyroid hormone resistance: a novel mutation in thyroid hormone receptor beta (THRB) gene - case report.

Işık E, Beck Peccoz P, Campi I, Özön A, Alikaşifoğlu A, Gönç N, Kandemir N.

Turk J Pediatr. 2013 May-Jun;55(3):322-7.

PMID:
24217081
[PubMed - indexed for MEDLINE]
Free Article
13.

Alopecia: association with resistance to thyroid hormones.

Guran T, Bircan R, Turan S, Bereket A.

J Pediatr Endocrinol Metab. 2009 Nov;22(11):1075-81.

PMID:
20101894
[PubMed - indexed for MEDLINE]
14.

Pathogenic mechanism of mutations in the thyroid hormone receptor β gene.

Pongjantarasatian S, Wacharasindhu S, Tongkobpetch S, Suphapeetiporn K, Shotelersuk V.

J Endocrinol Invest. 2012 Jun;35(6):557-61. doi: 10.3275/7876. Epub 2011 Jul 27.

PMID:
21795843
[PubMed - indexed for MEDLINE]
15.

A newly identified insertion mutation in the thyroid hormone receptor-beta gene in a Korean family with generalized thyroid hormone resistance.

Kim JH, Park TS, Baek HS, Kim GH, Yoo HW, Park JH.

J Korean Med Sci. 2007 Jun;22(3):560-3.

PMID:
17596672
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

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
[PubMed - indexed for MEDLINE]
17.

Search for abnormalities of nuclear corepressors, coactivators, and a coregulator in families with resistance to thyroid hormone without mutations in thyroid hormone receptor beta or alpha genes.

Reutrakul S, Sadow PM, Pannain S, Pohlenz J, Carvalho GA, Macchia PE, Weiss RE, Refetoff S.

J Clin Endocrinol Metab. 2000 Oct;85(10):3609-17.

PMID:
11061510
[PubMed - indexed for MEDLINE]
18.

Thyroid hormone receptor mutations and disease: beyond thyroid hormone resistance.

Cheng SY.

Trends Endocrinol Metab. 2005 May-Jun;16(4):176-82. Review.

PMID:
15860414
[PubMed - indexed for MEDLINE]
19.

Genotyping of resistance to thyroid hormone in South American population. Identification of seven novel missense mutations in the human thyroid hormone receptor beta gene.

Rivolta CM, Olcese MC, Belforte FS, Chiesa A, Gruñeiro-Papendieck L, Iorcansky S, Herzovich V, Cassorla F, Gauna A, Gonzalez-Sarmiento R, Targovnik HM.

Mol Cell Probes. 2009 Jun-Aug;23(3-4):148-53. doi: 10.1016/j.mcp.2009.02.002. Epub 2009 Mar 4.

PMID:
19268523
[PubMed - indexed for MEDLINE]
20.

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
[PubMed - indexed for MEDLINE]

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