559 related articles for article (PubMed ID: 17177139)
1. 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. PubMed ID: 17177139
[TBL] [Abstract][Full Text] [Related]
2. 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. PubMed ID: 11073720
[TBL] [Abstract][Full Text] [Related]
3. 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. PubMed ID: 15771554
[TBL] [Abstract][Full Text] [Related]
4. Tissue responses to thyroid hormone in a kindred with resistance to thyroid hormone harboring a commonly occurring mutation in the thyroid hormone receptor beta gene (P453T).
Wu SY; Sadow PM; Refetoff S; Weiss RE
J Lab Clin Med; 2005 Aug; 146(2):85-94. PubMed ID: 16099238
[TBL] [Abstract][Full Text] [Related]
5. 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. PubMed ID: 10090317
[TBL] [Abstract][Full Text] [Related]
6. Thyroid hormone resistance.
Olateju TO; Vanderpump MP
Ann Clin Biochem; 2006 Nov; 43(Pt 6):431-40. PubMed ID: 17132274
[TBL] [Abstract][Full Text] [Related]
7. 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; 50(6):577-80. PubMed ID: 19227423
[TBL] [Abstract][Full Text] [Related]
8. Resistance to thyroid hormone caused by two mutant thyroid hormone receptors beta, R243Q and R243W, with marked impairment of function that cannot be explained by altered in vitro 3,5,3'-triiodothyroinine binding affinity.
Yagi H; Pohlenz J; Hayashi Y; Sakurai A; Refetoff S
J Clin Endocrinol Metab; 1997 May; 82(5):1608-14. PubMed ID: 9141558
[TBL] [Abstract][Full Text] [Related]
9. The novel missense mutation methionine 442 threonine in the thyroid hormone receptor beta causes thyroid hormone resistance: a case report.
Bayer Y; Fasshauer M; Paschke R
Exp Clin Endocrinol Diabetes; 2004 Feb; 112(2):95-7. PubMed ID: 15031774
[TBL] [Abstract][Full Text] [Related]
10. 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. PubMed ID: 16804041
[TBL] [Abstract][Full Text] [Related]
11. 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. PubMed ID: 20940675
[TBL] [Abstract][Full Text] [Related]
12. A new mutation in the thyroid hormone receptor gene of a Chinese family with resistance to thyroid hormone.
Dong Q; Gong CX; Gu Y; Su C
Chin Med J (Engl); 2011 Jun; 124(12):1835-9. PubMed ID: 21740842
[TBL] [Abstract][Full Text] [Related]
13. 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. PubMed ID: 16464943
[TBL] [Abstract][Full Text] [Related]
14. 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. PubMed ID: 19378427
[TBL] [Abstract][Full Text] [Related]
15. 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. PubMed ID: 10566629
[TBL] [Abstract][Full Text] [Related]
16. 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. PubMed ID: 15598685
[TBL] [Abstract][Full Text] [Related]
17. 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. PubMed ID: 17610520
[TBL] [Abstract][Full Text] [Related]
18. 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. PubMed ID: 10646658
[TBL] [Abstract][Full Text] [Related]
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; 23(3-4):148-53. PubMed ID: 19268523
[TBL] [Abstract][Full Text] [Related]
20. 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. PubMed ID: 22696245
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
