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1.
Mass spectrometry in the diagnosis of thyroid disease and in the study of thyroid hormone metabolism.
Mass Spectrom Rev
; 41(3): 443-468, 2022 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-33238065
2.
Identification of a novel pax8 gene sequence variant in four members of the same family: from congenital hypothyroidism with thyroid hypoplasia to mild subclinical hypothyroidism.
BMC Endocr Disord
; 14: 69, 2014 Aug 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-25146893
3.
Late-onset dyshormonogenic goitrous hypothyroidism due to a homozygous mutation of the SLC26A7 gene: a case report.
Ital J Pediatr
; 50(1): 106, 2024 May 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-38812002
4.
Congenital hypothyroidism caused by a novel homozygous mutation in the thyroglobulin gene.
Eur J Pediatr
; 172(7): 959-64, 2013 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-23455760
5.
Sporadic congenital nonautoimmune hyperthyroidism caused by P639S mutation in thyrotropin receptor gene.
Eur J Pediatr
; 171(7): 1133-7, 2012 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-22371259
6.
Clinical features, risk of mass enlargement, and development of endocrine hyperfunction in patients with adrenal incidentalomas: a long-term follow-up study.
Endocrine
; 71(1): 178-188, 2021 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-32915435
7.
Characterization of a novel mutation V136L in bone morphogenetic protein 15 identified in a woman affected by POI.
J Ovarian Res
; 14(1): 85, 2021 Jun 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-34187539
8.
Identification of Two Different Phenotypes of Patients with Amiodarone-Induced Thyrotoxicosis and Positive Thyrotropin Receptor Antibody Tests.
Thyroid
; 31(10): 1463-1471, 2021 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-34271828
9.
Functional studies of new TSH receptor (TSHr) mutations identified in patients affected by hypothyroidism or isolated hyperthyrotrophinaemia.
Clin Endocrinol (Oxf)
; 70(2): 335-8, 2009 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-18727713
10.
Thyroid hormone action in the adult brain: gene expression profiling of the effects of single and multiple doses of triiodo-L-thyronine in the rat striatum.
Endocrinology
; 149(8): 3989-4000, 2008 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-18467437
11.
A fast method to detect cell surface expression of thyrotropin receptor (TSHr): the microchip flow cytometry analysis.
Thyroid
; 17(9): 861-8, 2007 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-17705697
12.
Markers of cell proliferation, apoptosis, and angiogenesis in thyroid adenomas: a comparative immunohistochemical and genetic investigation of functioning and nonfunctioning nodules.
Thyroid
; 17(3): 191-7, 2007 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-17381350
13.
Evidence for protein and mRNA TSHr expression in fibroblasts from patients with thyroid-associated ophthalmopathy (TAO) after adipocytic differentiation.
Eur J Endocrinol
; 152(5): 777-84, 2005 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-15879364
14.
TSH elevations as the first laboratory evidence for pseudohypoparathyroidism type Ib (PHP-Ib).
J Bone Miner Res
; 30(5): 906-12, 2015 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-25403028
15.
Low prevalence of thyrotropin receptor mutations in a large series of subjects with sporadic and familial nonautoimmune subclinical hypothyroidism.
J Clin Endocrinol Metab
; 89(11): 5787-93, 2004 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-15531543
16.
Genetic screening for melanocortin-4 receptor mutations in a cohort of Italian obese patients: description and functional characterization of a novel mutation.
J Clin Endocrinol Metab
; 89(2): 904-8, 2004 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-14764812
17.
Benign nonfunctioning thyroid adenomas are characterized by a defective targeting to cell membrane or a reduced expression of the sodium iodide symporter protein.
J Clin Endocrinol Metab
; 87(1): 352-7, 2002 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-11788674
18.
Expression of cAMP-responsive element binding protein and inducible cAMP early repressor in hyperfunctioning thyroid adenomas.
Eur J Endocrinol
; 146(6): 759-66, 2002 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-12039695
19.
TSH receptor antibodies do not alter the function of gonadotropin receptors stably expressed in eukaryotic cells.
Eur J Endocrinol
; 150(3): 381-7, 2004 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-15012625
20.
Real-time PCR provides evidence for thyrotropin receptor mRNA expression in orbital as well as in extraorbital tissues.
Eur J Endocrinol
; 147(6): 733-9, 2002 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-12457447