Detalhe da pesquisa
1.
Height and body mass index in molecularly confirmed Silver-Russell syndrome and the long-term effects of growth hormone treatment.
Clin Endocrinol (Oxf)
; 97(3): 284-292, 2022 09.
Artigo
Inglês
| MEDLINE | ID: mdl-35261046
2.
Insights from the genetic characterization of central precocious puberty associated with multiple anomalies.
Hum Reprod
; 36(2): 506-518, 2021 01 25.
Artigo
Inglês
| MEDLINE | ID: mdl-33313884
3.
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
Inglês
| MEDLINE | ID: mdl-32152250
4.
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
Inglês
| MEDLINE | ID: mdl-31671431
5.
Pathogenic copy number variants in patients with congenital hypopituitarism associated with complex phenotypes.
Clin Endocrinol (Oxf)
; 88(3): 425-431, 2018 03.
Artigo
Inglês
| MEDLINE | ID: mdl-29265571
6.
Good response to long-term therapy with growth hormone in a patient with 9p trisomy syndrome: A case report and review of the literature.
Am J Med Genet A
; 170A(4): 1046-9, 2016 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-26689153
7.
Clinical and Genetic Characterization of Familial Central Precocious Puberty.
J Clin Endocrinol Metab
; 108(7): 1758-1767, 2023 06 16.
Artigo
Inglês
| MEDLINE | ID: mdl-36611250
8.
The Congenital and Acquired Mechanisms Implicated in the Etiology of Central Precocious Puberty.
Endocr Rev
; 44(2): 193-221, 2023 03 04.
Artigo
Inglês
| MEDLINE | ID: mdl-35930274
9.
Familial central precocious puberty due to DLK1 deficiency: novel genetic findings and relevance of serum DLK1 levels.
Eur J Endocrinol
; 189(3): 422-428, 2023 Sep 01.
Artigo
Inglês
| MEDLINE | ID: mdl-37703313
10.
Rare variants in the MECP2 gene in girls with central precocious puberty: a translational cohort study.
Lancet Diabetes Endocrinol
; 11(8): 545-554, 2023 08.
Artigo
Inglês
| MEDLINE | ID: mdl-37385287
11.
Anthropometric, metabolic, and reproductive outcomes of patients with central precocious puberty treated with leuprorelin acetate 3-month depot (11.25 mg).
J Pediatr Endocrinol Metab
; 34(11): 1371-1377, 2021 Nov 25.
Artigo
Inglês
| MEDLINE | ID: mdl-34298591
12.
Genotype-Phenotype Correlations in Central Precocious Puberty Caused by MKRN3 Mutations.
J Clin Endocrinol Metab
; 106(4): 1041-1050, 2021 03 25.
Artigo
Inglês
| MEDLINE | ID: mdl-33383582
13.
Persistent symptoms and decreased health-related quality of life after symptomatic pediatric COVID-19: A prospective study in a Latin American tertiary hospital.
Clinics (Sao Paulo)
; 76: e3511, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-34852145
14.
Novel Genetic and Biochemical Findings of DLK1 in Children with Central Precocious Puberty: A Brazilian-Spanish Study.
J Clin Endocrinol Metab
; 105(10)2020 10 01.
Artigo
Inglês
| MEDLINE | ID: mdl-32676665
15.
LipoDDx: a mobile application for identification of rare lipodystrophy syndromes.
Orphanet J Rare Dis
; 15(1): 81, 2020 04 02.
Artigo
Inglês
| MEDLINE | ID: mdl-32241282
16.
Pioneering studies on monogenic central precocious puberty.
Arch Endocrinol Metab
; 63(4): 438-444, 2019 Aug 22.
Artigo
Inglês
| MEDLINE | ID: mdl-31460623
17.
DLK1 Is a Novel Link Between Reproduction and Metabolism.
J Clin Endocrinol Metab
; 104(6): 2112-2120, 2019 06 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30462238
18.
Resting metabolic rate of obese patients under very low calorie ketogenic diet.
Nutr Metab (Lond)
; 15: 18, 2018.
Artigo
Inglês
| MEDLINE | ID: mdl-29467800
19.
Evaluation of pediatric diabetes mellitus after SARS-CoV-2 infection: A long-term prospective case series.
Clinics (Sao Paulo)
; 78: 100299, 2023.
Artigo
Inglês
| MEDLINE | ID: mdl-37988857
20.
Methylome profiling of healthy and central precocious puberty girls.
Clin Epigenetics
; 10(1): 146, 2018 11 22.
Artigo
Inglês
| MEDLINE | ID: mdl-30466473