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European Journal of Endocrinology|October 29, 2021
Treatment of congenital hypothyroidism: comparison between L-thyroxine oral solution and tablet formulations up to 3 years of ageMaria Cristina Vigone, Rita Ortolano, Gaia Vincenzi, et al.
Human Molecular Genetics|September 17, 2011
The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith-Wiedemann syndrome and Silver-Russell syndrome casesNicoletta Chiesa, Agostina De Crescenzo, Kankadeb Mishra, et al.
Genes|January 21, 2022
MEK Inhibition in a Newborn with <i>RAF1</i>-Associated Noonan Syndrome Ameliorates Hypertrophic Cardiomyopathy but Is Insufficient to Revert Pulmonary Vascular DiseaseAlessandro Mussa, Diana Carli, Elisa Giorgio, et al.
Clinical Endocrinology|December 14, 2011
Assessment of central adrenal insufficiency in children and adolescents with Prader-Willi syndromeAndrea Corrias, Graziano Grugni, Antonino Crinò, et al.
Scientific Reports|July 4, 2026
Targeted long-read sequencing with adaptive sampling enables the integrated genomic and epigenomic profiling of imprinting disordersFederico Rondot, Federica Centofanti, Anna Micaletto, et al.
Frontiers in Endocrinology|January 10, 2022
Growth in Children With Noonan Syndrome and Effects of Growth Hormone Treatment on Adult HeightAnnachiara Libraro, Vito D'Ascanio, Marco Cappa, et al.
Endocrine|March 13, 2015
Levothyroxine requirement in congenital hypothyroidism: a 12-year longitudinal studyMaurizio Delvecchio, Mariacarolina Salerno, Maria Cristina Vigone, et al.
European Journal of Medical Genetics|November 24, 2015
Recommendations of the Scientific Committee of the Italian Beckwith-Wiedemann Syndrome Association on the diagnosis, management and follow-up of the syndromeAlessandro Mussa, Stefania Di Candia, Silvia Russo, et al.
Cancers|February 11, 2023
Performance Metrics of the Scoring System for the Diagnosis of the Beckwith-Wiedemann Spectrum (BWSp) and Its Correlation with Cancer DevelopmentMaria Luca, Diana Carli, Simona Cardaropoli, et al.
Pediatric Neurology|January 31, 2026
Advancing Neuropediatric Rare Disease Diagnosis Through Clinical Genome SequencingFabio Sirchia, Silvia Kalantari, Diana Carli, et al.
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