Detalhe da pesquisa
1.
A mutation in the thyroid hormone receptor alpha gene.
N Engl J Med
; 366(3): 243-9, 2012 Jan 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-22168587
2.
Digenic inheritance of severe insulin resistance in a human pedigree.
Nat Genet
; 31(4): 379-84, 2002 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-12118251
3.
Non-DNA binding, dominant-negative, human PPARgamma mutations cause lipodystrophic insulin resistance.
Cell Metab
; 4(4): 303-11, 2006 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-17011503
4.
Clinical Consequences of Variable Results in the Measurement of Free Thyroid Hormones: Unusual Presentation of a Family with a Novel Variant in the THRB Gene Causing Resistance to Thyroid Hormone Syndrome.
Eur Thyroid J
; 10(6): 533-541, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-34956926
5.
Hyperthyroxinemia and Hypercortisolemia due to Familial Dysalbuminemia.
Thyroid
; 30(11): 1681-1684, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32669045
6.
A Pharmacogenetic Approach to the Treatment of Patients With PPARG Mutations.
Diabetes
; 67(6): 1086-1092, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29622583
7.
Contrasting Phenotypes in Resistance to Thyroid Hormone Alpha Correlate with Divergent Properties of Thyroid Hormone Receptor α1 Mutant Proteins.
Thyroid
; 27(7): 973-982, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28471274
8.
Homozygous Resistance to Thyroid Hormone ß: Can Combined Antithyroid Drug and Triiodothyroacetic Acid Treatment Prevent Cardiac Failure?
J Endocr Soc
; 1(9): 1203-1212, 2017 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29264576
9.
Mutation in human selenocysteine transfer RNA selectively disrupts selenoprotein synthesis.
J Clin Invest
; 126(3): 992-6, 2016 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26854926
10.
Tyrosine agonists reverse the molecular defects associated with dominant-negative mutations in human peroxisome proliferator-activated receptor gamma.
Endocrinology
; 145(4): 1527-38, 2004 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-14657011
11.
Familial dysalbuminemic hyperthyroxinemia: a persistent diagnostic challenge.
Clin Chem
; 55(5): 1044-6, 2009 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19282355
12.
A novel albumin gene mutation (R222I) in familial dysalbuminemic hyperthyroxinemia.
J Clin Endocrinol Metab
; 99(7): E1381-6, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24646103
13.
Resistance to thyroid hormone caused by a mutation in thyroid hormone receptor (TR)α1 and TRα2: clinical, biochemical, and genetic analyses of three related patients.
Lancet Diabetes Endocrinol
; 2(8): 619-26, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24969835
14.
An adult female with resistance to thyroid hormone mediated by defective thyroid hormone receptor α.
J Clin Endocrinol Metab
; 98(11): 4254-61, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23940126
15.
Mutations in the selenocysteine insertion sequence-binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans.
J Clin Invest
; 120(12): 4220-35, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-21084748
16.
Retardation of post-natal development caused by a negatively acting thyroid hormone receptor alpha1.
EMBO J
; 21(19): 5079-87, 2002 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-12356724