Detalhe da pesquisa
1.
Trafficking-defective mutant PROKR2 cycles between endoplasmic reticulum and Golgi to attenuate endoplasmic reticulum stress.
Proc Natl Acad Sci U S A
; 119(8)2022 02 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-35173048
2.
Transgenic mice with an R342X mutation in Phf6 display clinical features of Börjeson-Forssman-Lehmann Syndrome.
Hum Mol Genet
; 30(7): 575-594, 2021 05 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33772537
3.
Downregulation of the GHRH/GH/IGF1 axis in a mouse model of Börjeson-Forssman-Lehman syndrome.
Development
; 147(21)2020 10 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-32994169
4.
Resumption of Spermatogenesis and Fertility Post Withdrawal of Hydroxyurea Treatment.
Int J Mol Sci
; 24(11)2023 May 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37298325
5.
Gonadotropin-Releasing Hormone Receptor (GnRHR) and Hypogonadotropic Hypogonadism.
Int J Mol Sci
; 24(21)2023 Nov 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37958948
6.
Inactivating NHLH2 variants cause idiopathic hypogonadotropic hypogonadism and obesity in humans.
Hum Genet
; 141(2): 295-304, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-35066646
7.
On the Need to Distinguish between Insulin-Normal and Insulin-Resistant Patients in Testosterone Therapy.
Int J Mol Sci
; 23(21)2022 Oct 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-36361519
8.
A Novel FGFR1 Missense Mutation in a Portuguese Family with Congenital Hypogonadotropic Hypogonadism.
Int J Mol Sci
; 23(8)2022 Apr 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-35457241
9.
Deficiency of arcuate nucleus kisspeptin results in postpubertal central hypogonadism.
Am J Physiol Endocrinol Metab
; 321(2): E264-E280, 2021 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34181485
10.
Novel model to study the physiological effects of temporary or prolonged sex steroid deficiency in male mice.
Am J Physiol Endocrinol Metab
; 320(3): E415-E424, 2021 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33308013
11.
Mechanism and chain specificity of RNF216/TRIAD3, the ubiquitin ligase mutated in Gordon Holmes syndrome.
Hum Mol Genet
; 28(17): 2862-2873, 2019 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31087003
12.
LncRNA FENDRR promotes apoptosis of Leydig cells in late-onset hypogonadism by facilitating the degradation of Nrf2.
Cell Tissue Res
; 386(2): 379-389, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-34278519
13.
Central hypogonadism in Klinefelter syndrome: report of two cases and review of the literature.
J Endocrinol Invest
; 44(3): 459-470, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-32537678
14.
Exposure to di-n-octyl phthalate during puberty induces hypergonadotropic hypogonadism caused by Leydig cell hyperplasia but reduced steroidogenic function in male rats.
Ecotoxicol Environ Saf
; 208: 111432, 2021 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-33075588
15.
Prader-Willi Syndrome and Hypogonadism: A Review Article.
Int J Mol Sci
; 22(5)2021 Mar 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33800122
16.
The Roles of Luteinizing Hormone, Follicle-Stimulating Hormone and Testosterone in Spermatogenesis and Folliculogenesis Revisited.
Int J Mol Sci
; 22(23)2021 Nov 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-34884539
17.
MINI REVIEW: Role of Kisspeptin-GPR54 system in regulation of reproductive functions in human and other mammals.
Pak J Pharm Sci
; 34(1): 177-184, 2021 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34248018
18.
Testosterone replacement therapy in insulin-sensitive hypogonadal men restores phosphatidylcholine levels by regulation of arachidonic acid metabolism.
J Cell Mol Med
; 24(14): 8266-8269, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32491269
19.
Morbidity in Klinefelter syndrome and the effect of testosterone treatment.
Am J Med Genet C Semin Med Genet
; 184(2): 344-355, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32496001
20.
DCC/NTN1 complex mutations in patients with congenital hypogonadotropic hypogonadism impair GnRH neuron development.
Hum Mol Genet
; 27(2): 359-372, 2018 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29202173