PubMed

Genetic and clinical features of 42 kindreds with resistance to thyroid hormone. The National Institutes of Health Prospective Study.

Brucker-Davis F, Skarulis MC, Grace MB, Benichou J, Hauser P, Wiggs E, Weintraub BD.

Ann Intern Med. 1995 Oct 15;123(8):572-83.PMID: 7677297 [PubMed - indexed for MEDLINE]Related articlesFree article

Retarded bone growth in thyroid hormone resistance. A clinical study of a large family with a novel thyroid hormone receptor mutation.

Kvistad PH, Løvås K, Boman H, Myking OL.

Eur J Endocrinol. 2004 Apr;150(4):425-30.PMID: 15080770 [PubMed - indexed for MEDLINE]Related articlesFree article

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]Related articlesFree article

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 [PubMed - indexed for MEDLINE]Related articles

Correlations of language abnormalities with localization of mutations in the beta-thyroid hormone receptor in 13 kindreds with generalized resistance to thyroid hormone: identification of four new mutations.

Mixson AJ, Parrilla R, Ransom SC, Wiggs EA, McClaskey JH, Hauser P, Weintraub BD.

J Clin Endocrinol Metab. 1992 Oct;75(4):1039-45.PMID: 1400869 [PubMed - indexed for MEDLINE]Related articles

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 [PubMed - indexed for MEDLINE]Related articles

Phenotype differences of resistance to thyroid hormone in two unrelated families with an identical mutation in the thyroid hormone receptor beta gene (R320C).

Weiss RE, Tunca H, Knapple WL, Faas FH, Refetoff S.

Thyroid. 1997 Feb;7(1):35-8.PMID: 9086567 [PubMed - indexed for MEDLINE]Related articles

Resistance to thyroid hormone in a patient without thyroid hormone receptor mutations.

Parikh S, Ando S, Schneider A, Skarulis MC, Sarlis NJ, Yen PM.

Thyroid. 2002 Jan;12(1):81-6.PMID: 11838736 [PubMed - indexed for MEDLINE]Related articles

Low intelligence but not attention deficit hyperactivity disorder is associated with resistance to thyroid hormone caused by mutation R316H in the thyroid hormone receptor beta gene.

Weiss RE, Stein MA, Duck SC, Chyna B, Phillips W, O'Brien T, Gutermuth L, Refetoff S.

J Clin Endocrinol Metab. 1994 Jun;78(6):1525-8.PMID: 8200958 [PubMed - indexed for MEDLINE]Related articles

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]Related articlesFree article

Three Japanese patients from two families with generalized resistance to thyroid hormone with mutations in exon 9 of the thyroid hormone receptor beta gene.

Taniyama M, Ban Y, Momotani N, Makino F, Ito K, Ban Y.

Intern Med. 2001 Aug;40(8):756-8.PMID: 11518118 [PubMed - indexed for MEDLINE]Related articlesFree article

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 [PubMed - indexed for MEDLINE]Related articles

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 [PubMed - indexed for MEDLINE]Related articles

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.PMID: 10487671 [PubMed - indexed for MEDLINE]Related articlesFree article

Syndrome of resistance to thyroid hormone: insights into thyroid hormone action.

Kopp P, Kitajima K, Jameson JL.

Proc Soc Exp Biol Med. 1996 Jan;211(1):49-61. Review.PMID: 8594618 [PubMed - indexed for MEDLINE]Related articles

Identification of a novel mutation in the gene encoding the beta-triiodothyronine receptor in a patient with apparent selective pituitary resistance to thyroid hormone.

Mixson AJ, Renault JC, Ransom S, Bodenner DL, Weintraub BD.

Clin Endocrinol (Oxf). 1993 Mar;38(3):227-34.PMID: 8384535 [PubMed - indexed for MEDLINE]Related articles

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 [PubMed - indexed for MEDLINE]Related articles

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]Related articles

Enhanced levels of wild-type versus mutant thyroid hormone receptor beta 1 messenger RNA in fibroblasts from heterozygotes of kindred S with thyroid hormone resistance.

Bercu BB, Usala SJ, Klann RC, Root AW, Nguyen UK, Torres B, Holbrook CT.

Thyroid. 1996 Jun;6(3):189-94.PMID: 8837325 [PubMed - indexed for MEDLINE]Related articles

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]Related articlesFree article