Detalhe da pesquisa
1.
An in vivo functional assay to characterize human STAT5B genetic variants during zebrafish development.
Hum Mol Genet
; 32(15): 2473-2484, 2023 07 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-37162340
2.
High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency.
Am J Hum Genet
; 108(8): 1526-1539, 2021 08 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34270938
3.
Diagnosing and treating anterior pituitary hormone deficiency in pediatric patients.
Rev Endocr Metab Disord
; 2023 Dec 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38112850
4.
Serum Vitamin D Levels and Life-Threatening Respiratory Syncytial Virus Infection in Previously Healthy Infants.
J Infect Dis
; 226(6): 958-966, 2022 09 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-35106574
5.
Improving safety in paediatric thyroidectomy by PTH measurements.
Clin Endocrinol (Oxf)
; 95(5): 760-765, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34219257
6.
Clinical lessons learned in constitutional hypopituitarism from two decades of experience in a large international cohort.
Clin Endocrinol (Oxf)
; 94(2): 277-289, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33098107
7.
An eHealth Framework for Managing Pediatric Growth Disorders and Growth Hormone Therapy.
J Med Internet Res
; 23(5): e27446, 2021 05 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-34014174
8.
Expression of acid-labile subunit (ALS) in developing and adult zebrafish and its role in dorso-ventral patterning during development.
Gen Comp Endocrinol
; 299: 113591, 2020 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32828812
9.
Safety of standardised treatments for haematologic malignancies as regards to testicular endocrine function in children and teenagers.
Hum Reprod
; 34(12): 2480-2494, 2019 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31768530
10.
Characterization of four Latin American families confirms previous findings and reveals novel features of acid-labile subunit deficiency.
Clin Endocrinol (Oxf)
; 87(3): 300-311, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28445628
11.
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
12.
Differentiated Thyroid Cancer in Children: Prevalence and Predictors in a Large Cohort with Thyroid Nodules Followed Prospectively.
J Pediatr
; 167(1): 199-201, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-26117640
13.
Diagnostic Accuracy of Morning Salivary Cortisol in the Assessment of the Hypothalamic-Pituitary-Adrenal Axis Recovery after Prolonged Corticosteroid Therapy in Children.
Horm Res Paediatr
; 97(1): 53-61, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-37231892
14.
Prevalence of Polycystic Ovarian Syndrome in Girls with a History of Idiopathic Central Precocious Puberty.
Horm Res Paediatr
; 97(2): 134-139, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-37552972
15.
Case report: Novel SIN3A loss-of-function variant as causative for hypogonadotropic hypogonadism in Witteveen-Kolk syndrome.
Front Genet
; 15: 1354715, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38528912
16.
Exome Sequencing has a high diagnostic rate in sporadic congenital hypopituitarism and reveals novel candidate genes.
J Clin Endocrinol Metab
; 2024 May 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38717911
17.
High diagnostic accuracy of subcutaneous Triptorelin test compared with GnRH test for diagnosing central precocious puberty in girls.
Clin Endocrinol (Oxf)
; 78(3): 398-404, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22845185
18.
[Use of growth hormone in children and adolescents]. / Utilización de la hormona de crecimiento en niños y adolescentes.
Medicina (B Aires)
; 73(3): 272-6, 2013.
Artigo
em Espanhol
| MEDLINE | ID: mdl-23732208
19.
Ibuprofen use for the treatment of pediatric patients with polyuria and dysnatremia. A case series report. / Uso de ibuprofeno en el tratamiento de pacientes pediátricos con poliuria y disnatremia. Reporte de una serie de casos.
Arch Argent Pediatr
; 121(6): e202310035, 2023 12 01.
Artigo
em Inglês, Espanhol
| MEDLINE | ID: mdl-37493586
20.
Diagnosis and testing for growth hormone deficiency across the ages: a global view of the accuracy, caveats, and cut-offs for diagnosis.
Endocr Connect
; 12(7)2023 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37052176