Detalhe da pesquisa
1.
Neuron-Derived Neurotrophic Factor Is Mutated in Congenital Hypogonadotropic Hypogonadism.
Am J Hum Genet
; 106(1): 58-70, 2020 01 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31883645
2.
Deciphering the Transcriptional Landscape of Human Pluripotent Stem Cell-Derived GnRH Neurons: The Role of Wnt Signaling in Patterning the Neural Fate.
Stem Cells
; 40(12): 1107-1121, 2022 12 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-36153707
3.
Familial central precocious puberty: two novel MKRN3 mutations.
Pediatr Res
; 90(2): 431-435, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33214675
4.
Childhood growth of females with Kallmann syndrome and FGFR1 mutations.
Clin Endocrinol (Oxf)
; 82(1): 122-6, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24841555
5.
Mutation screening of SEMA3A and SEMA7A in patients with congenital hypogonadotropic hypogonadism.
Pediatr Res
; 75(5): 641-4, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24522099
6.
A splice site variant in MADD affects hormone expression in pancreatic ß cells and pituitary gonadotropes.
JCI Insight
; 9(10)2024 May 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38775154
7.
Congenital hypogonadotropic hypogonadism in a patient with a de novo POGZ mutation.
Eur J Endocrinol
; 189(2): 271-280, 2023 Aug 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37619992
8.
FGF8-FGFR1 signaling regulates human GnRH neuron differentiation in a time- and dose-dependent manner.
Dis Model Mech
; 15(8)2022 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35833364
9.
Circulating Liver-enriched Antimicrobial Peptide-2 Decreases During Male Puberty.
J Endocr Soc
; 6(3): bvac013, 2022 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35187383
10.
Presentation and diagnosis of childhood-onset combined pituitary hormone deficiency: A single center experience from over 30 years.
EClinicalMedicine
; 51: 101556, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-35875813
11.
Circulating makorin ring-finger protein-3 (MKRN3) levels in healthy men and in men with hypogonadotropic hypogonadism.
Clin Endocrinol (Oxf)
; 84(4): 638, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26970436
12.
Circulating makorin ring-finger protein-3 (MKRN3) levels in healthy men and in men with hypogonadotropic hypogonadism.
Clin Endocrinol (Oxf)
; 84(1): 151-2, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26175221
13.
Kallmann syndrome in a patient with Weiss-Kruszka syndrome and a de novo deletion in 9q31.2.
Eur J Endocrinol
; 185(1): 57-66, 2021 May 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-33909591
14.
Circulating miR-30b levels increase during male puberty.
Eur J Endocrinol
; 184(5): K11-K14, 2021 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-33667194
15.
Loss-of-Function Variants in TBC1D32 Underlie Syndromic Hypopituitarism.
J Clin Endocrinol Metab
; 105(6)2020 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32060556
16.
De novo SOX10 nonsense mutation in a patient with Kallmann syndrome and hearing loss.
Pediatr Res
; 76(1): 115-6, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24769923
17.
Screening for mutations in selected miRNA genes in hypogonadotropic hypogonadism patients.
Endocr Connect
; 8(5): 506-509, 2019 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30999277
18.
Letrozole versus testosterone for promotion of endogenous puberty in boys with constitutional delay of growth and puberty: a randomised controlled phase 3 trial.
Lancet Child Adolesc Health
; 3(2): 109-120, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30612946
19.
Recombinant Human FSH Treatment Outcomes in Five Boys With Severe Congenital Hypogonadotropic Hypogonadism.
J Endocr Soc
; 2(12): 1345-1356, 2018 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30519672
20.
GnRH receptor gene mutations in adolescents and young adults presenting with signs of partial gonadotropin deficiency.
PLoS One
; 12(11): e0188750, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-29182666