Detalhe da pesquisa
1.
A frequent oligogenic involvement in congenital hypothyroidism.
Hum Mol Genet
; 26(13): 2507-2514, 2017 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28444304
2.
Impaired protein stability and nuclear localization of NOBOX variants associated with premature ovarian insufficiency.
Hum Mol Genet
; 25(23): 5223-5233, 2016 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27798098
3.
Mild TSH resistance: Clinical and hormonal features in childhood and adulthood.
Clin Endocrinol (Oxf)
; 87(5): 587-596, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-28561265
4.
Toxic effects of expanded ataxin-1 involve mechanical instability of the nuclear membrane.
Biochim Biophys Acta
; 1822(6): 906-17, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22330095
5.
Tissue sensitivity to thyroid hormones may change over time.
Eur Thyroid J
; 11(2)2022 Feb 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-35060923
6.
Targeted Next-Generation Sequencing Indicates a Frequent Oligogenic Involvement in Primary Ovarian Insufficiency Onset.
Front Endocrinol (Lausanne)
; 12: 664645, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34803902
7.
The Potential Synergic Effect of a Complex Pattern of Multiple Inherited Genetic Variants as a Pathogenic Factor for Ovarian Dysgenesis: A Case Report.
Front Endocrinol (Lausanne)
; 11: 540683, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33101191
8.
Evidence for a Common Genetic Origin of Classic and Milder Adult-Onset Forms of Isolated Hypogonadotropic Hypogonadism.
J Clin Med
; 8(1)2019 Jan 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-30669598
9.
45,X/46,X,i(Yp): Importance of Assessment and Support during Puberty and Adolescence.
Sex Dev
; 13(3): 118-124, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31266049
10.
Hypogonadotropic hypogonadism and pituitary hypoplasia as recurrent features in Ulnar-Mammary syndrome.
Endocr Connect
; 7(12): 1432-1441, 2018 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30550377
11.
Correction to: Multiple endocrine neoplasia type 1: analysis of germline MEN1 mutations in the Italian multicenter MEN1 patient database.
Endocrine
; 62(1): 234-241, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30032405
12.
Characteristics of a nationwide cohort of patients presenting with isolated hypogonadotropic hypogonadism (IHH).
Eur J Endocrinol
; 178(1): 23-32, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28882981
13.
Multiple endocrine neoplasia type 1: analysis of germline MEN1 mutations in the Italian multicenter MEN1 patient database.
Endocrine
; 62(1): 215-233, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29497973
14.
Bcl-2 down modulation in WEHI-3B/CTRES cells resistant to Cholera Toxin (CT)-induced apoptosis.
Cell Res
; 16(3): 306-12, 2006 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-16541129
15.
The complex genetic basis of congenital hypogonadotropic hypogonadism.
Minerva Endocrinol
; 41(2): 223-39, 2016 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-26934720
16.
Recurrent EZH1 mutations are a second hit in autonomous thyroid adenomas.
J Clin Invest
; 126(9): 3383-8, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27500488
17.
Volume-regulated Cl- channels in human pleural mesothelioma cells.
FEBS Lett
; 559(1-3): 45-50, 2004 Feb 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-14960305
18.
Germline prokineticin receptor 2 (PROKR2) variants associated with central hypogonadism cause differental modulation of distinct intracellular pathways.
J Clin Endocrinol Metab
; 99(3): E458-63, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24276467
19.
New understandings of the genetic basis of isolated idiopathic central hypogonadism.
Asian J Androl
; 14(1): 49-56, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22138902
20.
Four novel RET germline variants in exons 8 and 11 display an oncogenic potential in vitro.
Eur J Endocrinol
; 162(4): 771-7, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-20103606