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1.
"Pesto" Mutation: Phenotypic and Genotypic Characteristics of Eight GCK/MODY Ligurian Patients.
Int J Mol Sci
; 24(4)2023 Feb 17.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| MEDLINE | ID: mdl-34664092
4.
Gene expression signatures predict response to therapy with growth hormone.
Pharmacogenomics J
; 21(5): 594-607, 2021 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-34045667
5.
Wolfram syndrome 1 in the Italian population: genotype-phenotype correlations.
Pediatr Res
; 87(3): 456-462, 2020 02.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| MEDLINE | ID: mdl-28614005
12.
Giant Urticaria and Acral Peeling in a Child with Coronavirus Disease 2019.
J Pediatr
; 230: 261-263, 2021 03.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| MEDLINE | ID: mdl-25759231
15.
European Achondroplasia Forum Practical Considerations for Following Adults with Achondroplasia.
Adv Ther
; 2024 May 15.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| MEDLINE | ID: mdl-37404559
18.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-37579214
19.
Next Generation Sequencing (NGS) Target Approach for Undiagnosed Dysglycaemia.
Life (Basel)
; 13(5)2023 Apr 24.
Artículo
en Inglés
| MEDLINE | ID: mdl-37240725
20.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-36983941