Detalhe da pesquisa
1.
Renal Function Evolution and Hypoaldosteronism Risk After Unilateral Adrenalectomy for Primary Aldosteronism.
Horm Metab Res
; 2024 Jan 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38040032
2.
SIN3A Defects Associated with Syndromic Congenital Hypogonadotropic Hypogonadism: An Overlap with Witteveen-Kolk Syndrome.
Neuroendocrinology
; 113(8): 834-843, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36758531
3.
Genetic and clinical aspects of paediatric pheochromocytomas and paragangliomas.
Clin Endocrinol (Oxf)
; 95(1): 117-124, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33745191
4.
Insights from the genetic characterization of central precocious puberty associated with multiple anomalies.
Hum Reprod
; 36(2): 506-518, 2021 01 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-33313884
5.
Pathogenic variants in TNRC6B cause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD.
J Med Genet
; 57(10): 717-724, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32152250
6.
Clinical and Genetic Characterization of a Constitutional Delay of Growth and Puberty Cohort.
Neuroendocrinology
; 110(11-12): 959-966, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-31726455
7.
Outcomes of Patients with Central Precocious Puberty Due to Loss-of-Function Mutations in the MKRN3 Gene after Treatment with Gonadotropin-Releasing Hormone Analog.
Neuroendocrinology
; 110(7-8): 705-713, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-31671431
8.
Central Precocious Puberty Caused by a Heterozygous Deletion in the MKRN3 Promoter Region.
Neuroendocrinology
; 107(2): 127-132, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29763903
9.
High Frequency of MKRN3 Mutations in Male Central Precocious Puberty Previously Classified as Idiopathic.
Neuroendocrinology
; 105(1): 17-25, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-27225315
10.
Central precocious puberty caused by mutations in the imprinted gene MKRN3.
N Engl J Med
; 368(26): 2467-75, 2013 Jun 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-23738509
11.
Expression of LIN28 and its regulatory microRNAs in adult adrenocortical cancer.
Clin Endocrinol (Oxf)
; 82(4): 481-8, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25200669
12.
TACR3 mutations disrupt NK3R function through distinct mechanisms in GnRH-deficient patients.
FASEB J
; 28(4): 1924-37, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24376026
13.
An ancient founder mutation in PROKR2 impairs human reproduction.
Hum Mol Genet
; 21(19): 4314-24, 2012 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22773735
14.
New causes of central precocious puberty: the role of genetic factors.
Neuroendocrinology
; 100(1): 1-8, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25116033
15.
Clinical and Pathological Predictors of Death for Adrenocortical Carcinoma.
J Endocr Soc
; 8(4): bvad170, 2024 Feb 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38384443
16.
Classes and predictors of reversal in male patients with congenital hypogonadotropic hypogonadism: a cross-sectional study of six international referral centres.
Lancet Diabetes Endocrinol
; 12(4): 257-266, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38437850
17.
Intraoperative radiofrequency ablation for unresectable abdominal paraganglioma: a case report.
Front Endocrinol (Lausanne)
; 15: 1346052, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38686210
18.
Cardiovascular risk in women with nonclassical congenital adrenal hyperplasia.
J Clin Endocrinol Metab
; 2024 Mar 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38466890
19.
Contralateral suppression in adrenal venous sampling predicts clinical and biochemical outcome in primary aldosteronism.
J Clin Endocrinol Metab
; 2024 Mar 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38442744
20.
Kisspeptin and clinical disorders.
Adv Exp Med Biol
; 784: 187-99, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23550007