199 related articles for article (PubMed ID: 10660344)
1. T426I a new mutation in the thyroid hormone receptor beta gene in a sporadic patient with resistance to thyroid hormone and dysmorphism. Mutations in brief no. 192. Online.
Menzaghi C; Di Paola R; Corrias A; Einaudi S; Trischitta V; De Sanctis C; De Filippis V
Hum Mutat; 1998; 12(4):289. PubMed ID: 10660344
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. 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]
5. 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]
6. [Thyroid hormone resistance. Clinical, biochemical and genetic study of a family].
Erichsen KE; Berg JP; Torjesen PA; Haug E; Johannesen O
Tidsskr Nor Laegeforen; 1998 Feb; 118(4):525-9. PubMed ID: 9520578
[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. 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]
9. 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]
10. Thyroid hormone receptor mutations and disease: beyond thyroid hormone resistance.
Cheng SY
Trends Endocrinol Metab; 2005; 16(4):176-82. PubMed ID: 15860414
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
13. 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]
14. 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]
15. 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. PubMed ID: 9624596
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Dominant inheritance of resistance to thyroid hormone not linked to defects in the thyroid hormone receptor alpha or beta genes may be due to a defective cofactor.
Weiss RE; Hayashi Y; Nagaya T; Petty KJ; Murata Y; Tunca H; Seo H; Refetoff S
J Clin Endocrinol Metab; 1996 Dec; 81(12):4196-203. PubMed ID: 8954015
[TBL] [Abstract][Full Text] [Related]
18. The thyroid hormone receptor-beta gene mutation R383H is associated with isolated central resistance to thyroid hormone.
Safer JD; O'Connor MG; Colan SD; Srinivasan S; Tollin SR; Wondisford FE
J Clin Endocrinol Metab; 1999 Sep; 84(9):3099-109. PubMed ID: 10487671
[TBL] [Abstract][Full Text] [Related]
19. Thyroid Hormone Resistance in children.
Ercan O
Pediatr Endocrinol Rev; 2003 Dec; 1 Suppl 2():191-8; discussion 198. PubMed ID: 16444158
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]