Detalhe da pesquisa
1.
A Novel Missense Variant in the NKX2-1 Homeodomain Prevents Transcriptional Rescue by TAZ.
Thyroid
; 2024 May 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38757609
2.
Carcinoma erysipeloides of laryngeal origin.
Am J Dermatopathol
; 34(7): 753-4, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22668578
3.
Mutations in the iodotyrosine deiodinase gene and hypothyroidism.
N Engl J Med
; 358(17): 1811-8, 2008 Apr 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-18434651
4.
Central Hypothyroidism and Novel Clinical Phenotypes in Hemizygous Truncation of TBL1X.
J Endocr Soc
; 3(1): 119-128, 2019 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30591955
5.
The Brain-Lung-Thyroid syndrome (BLTS): A novel deletion in chromosome 14q13.2-q21.1 expands the phenotype to humoral immunodeficiency.
Eur J Med Genet
; 61(7): 393-398, 2018 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-29477862
6.
TAZ/WWTR1 Mediates the Pulmonary Effects of NKX2-1 Mutations in Brain-Lung-Thyroid Syndrome.
J Clin Endocrinol Metab
; 103(3): 839-852, 2018 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29294041
7.
Frequent and Rare HABP2 Variants Are Not Associated with Increased Susceptibility to Familial Nonmedullary Thyroid Carcinoma in the Spanish Population.
Horm Res Paediatr
; 89(6): 397-407, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29895015
8.
Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism.
N Engl J Med
; 347(2): 95-102, 2002 Jul 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-12110737
9.
New phenotypes in thyroid dyshormonogenesis: hypothyroidism due to DUOX2 mutations.
Endocr Dev
; 10: 99-117, 2007.
Artigo
em Inglês
| MEDLINE | ID: mdl-17684392
10.
Central Hypothyroidism Due to a TRHR Mutation Causing Impaired Ligand Affinity and Transactivation of Gq.
J Clin Endocrinol Metab
; 102(7): 2433-2442, 2017 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28419241
11.
The syndrome of central hypothyroidism and macroorchidism: IGSF1 controls TRHR and FSHB expression by differential modulation of pituitary TGFß and Activin pathways.
Sci Rep
; 7: 42937, 2017 03 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28262687
12.
The metabolism and de-bromination of bromotyrosine in vivo.
Free Radic Biol Med
; 90: 243-51, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26638695
13.
Insulin-secretion abnormalities and clinical deterioration related to impaired glucose tolerance in cystic fibrosis.
Eur J Endocrinol
; 152(2): 241-7, 2005 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-15745932
14.
Evolution of urinary iodine excretion over eleven years in an adult population.
Clin Nutr
; 34(4): 712-8, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25155806
15.
Central hypothyroidism in children.
Endocr Dev
; 26: 79-107, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25231446
16.
Towards the pre-clinical diagnosis of hypothyroidism caused by iodotyrosine deiodinase (DEHAL1) defects.
Best Pract Res Clin Endocrinol Metab
; 28(2): 151-9, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24629858
17.
Genetic basis of hypothyroidism: recent advances, gaps and strategies for future research.
Trends Endocrinol Metab
; 14(7): 318-26, 2003 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-12946874
18.
Genetics and phenomics of hypothyroidism and goiter due to iodotyrosine deiodinase (DEHAL1) gene mutations.
Mol Cell Endocrinol
; 322(1-2): 91-8, 2010 Jun 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-20298747
19.
A coherent organization of differentiation proteins is required to maintain an appropriate thyroid function in the Pendred thyroid.
J Clin Endocrinol Metab
; 95(8): 4021-30, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20501687
20.
IL-17-producing CD8+ T lymphocytes from psoriasis skin plaques are cytotoxic effector cells that secrete Th17-related cytokines.
J Leukoc Biol
; 86(2): 435-43, 2009 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-19487306