Detalhe da pesquisa
1.
"Pesto" Mutation: Phenotypic and Genotypic Characteristics of Eight GCK/MODY Ligurian Patients.
Int J Mol Sci
; 24(4)2023 Feb 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-36835446
2.
Pathogenic variants in RNPC3 are associated with hypopituitarism and primary ovarian insufficiency.
Genet Med
; 24(2): 384-397, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906446
3.
Prognostic factors in children and adolescents with differentiated thyroid carcinoma treated with total thyroidectomy and RAI: a real-life multicentric study.
Eur J Nucl Med Mol Imaging
; 49(4): 1374-1385, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34664092
4.
Gene expression signatures predict response to therapy with growth hormone.
Pharmacogenomics J
; 21(5): 594-607, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34045667
5.
Wolfram syndrome 1 in the Italian population: genotype-phenotype correlations.
Pediatr Res
; 87(3): 456-462, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31266054
6.
Characterization of Two Novel Variants of the Steroidogenic Acute Regulatory Protein Identified in a Girl with Classic Lipoid Congenital Adrenal Hyperplasia.
Int J Mol Sci
; 21(17)2020 08 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-32867102
7.
Reliability of clonidine testing for the diagnosis of growth hormone deficiency in children and adolescents.
Clin Endocrinol (Oxf)
; 89(6): 765-770, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30171702
8.
A novel pathogenic MYH3 mutation in a child with Sheldon-Hall syndrome and vertebral fusions.
Am J Med Genet A
; 176(3): 663-667, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29314551
9.
Novel CNS malformations and skeletal anomalies in a patient with Beaulieu-boycott-Innes syndrome.
Am J Med Genet A
; 176(12): 2835-2840, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30238602
10.
T2*-based MR imaging (gradient echo or susceptibility-weighted imaging) in midline and off-midline intracranial germ cell tumors: a pilot study.
Neuroradiology
; 60(1): 89-99, 2018 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-29128947
11.
PREVALENCE AND CORRELATES OF ADHERENCE IN CHILDREN AND ADOLESCENTS TREATED WITH GROWTH HORMONE: A MULTICENTER ITALIAN STUDY.
Endocr Pract
; 23(8): 929-941, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28614005
12.
Giant Urticaria and Acral Peeling in a Child with Coronavirus Disease 2019.
J Pediatr
; 230: 261-263, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33098844
13.
A case of interference in testosterone, DHEA-S and progesterone measurements by second generation immunoassays.
Clin Chem Lab Med
; 59(7): e275-e277, 2021 06 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-33544463
14.
Pituitary stalk thickening on MRI: when is the best time to re-scan and how long should we continue re-scanning for?
Clin Endocrinol (Oxf)
; 83(4): 449-55, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25759231
15.
European Achondroplasia Forum Practical Considerations for Following Adults with Achondroplasia.
Adv Ther
; 2024 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38748332
16.
Adolescent gender dysphoria management: position paper from the Italian Academy of Pediatrics, the Italian Society of Pediatrics, the Italian Society for Pediatric Endocrinology and Diabetes, the Italian Society of Adolescent Medicine and the Italian Society of Child and Adolescent Neuropsychiatry.
Ital J Pediatr
; 50(1): 73, 2024 Apr 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38637868
17.
The management of achondroplasia in Italy: results from a Delphi panel based on real-world experience.
Front Pediatr
; 11: 1209994, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37404559
18.
Automated Insulin Delivery (AID) Systems: Use and Efficacy in Children and Adults with Type 1 Diabetes and Other Forms of Diabetes in Europe in Early 2023.
Life (Basel)
; 13(3)2023 Mar 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-36983941
19.
Next Generation Sequencing (NGS) Target Approach for Undiagnosed Dysglycaemia.
Life (Basel)
; 13(5)2023 Apr 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-37240725
20.
Frequency and Predictive Factors of Hypoglycemia in Patients Treated With rhIGF-1: Data From the Eu-IGFD Registry.
J Clin Endocrinol Metab
; 109(1): 46-56, 2023 Dec 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37579214