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The Italian registry for patients with Prader-Willi syndrome.
Salvatore M, Torreri P, Grugni G, Rocchetti A, Maghnie M, Patti G, Crinò A, Elia M, Greco D, Romano C, Franzese A, Mozzillo E, Colao A, Pugliese G, Pagotto U, Lo Preiato V, Scarano E, Schiavariello C, Tornese G, Fintini D, Bocchini S, Osimani S, De Sanctis L, Sacco M, Rutigliano I, Delvecchio M, Faienza MF, Wasniewska M, Corica D, Stagi S, Guazzarotti L, Maffei P, Dassie F, Taruscio D. Salvatore M, et al. Among authors: maghnie m. Orphanet J Rare Dis. 2023 Feb 15;18(1):28. doi: 10.1186/s13023-023-02633-5. Orphanet J Rare Dis. 2023. PMID: 36793093 Free PMC article.
Central adrenal insufficiency in children and adolescents.
Patti G, Guzzeti C, Di Iorgi N, Maria Allegri AE, Napoli F, Loche S, Maghnie M. Patti G, et al. Among authors: maghnie m. Best Pract Res Clin Endocrinol Metab. 2018 Aug;32(4):425-444. doi: 10.1016/j.beem.2018.03.012. Epub 2018 Apr 10. Best Pract Res Clin Endocrinol Metab. 2018. PMID: 30086867 Review.
X-linked hypophosphatemic rickets: an Italian experts' opinion survey.
Emma F, Cappa M, Antoniazzi F, Bianchi ML, Chiodini I, Eller Vainicher C, Di Iorgi N, Maghnie M, Cassio A, Balsamo A, Baronio F, de Sanctis L, Tessaris D, Baroncelli GI, Mora S, Brandi ML, Weber G, D'Ausilio A, Lanati EP. Emma F, et al. Among authors: maghnie m. Ital J Pediatr. 2019 May 31;45(1):67. doi: 10.1186/s13052-019-0654-6. Ital J Pediatr. 2019. PMID: 31151476 Free PMC article.
Wolfram syndrome 1 in the Italian population: genotype-phenotype correlations.
Rigoli L, Aloi C, Salina A, Di Bella C, Salzano G, Caruso R, Mazzon E, Maghnie M, Patti G, D'Annunzio G, Lombardo F. Rigoli L, et al. Among authors: maghnie m. Pediatr Res. 2020 Feb;87(3):456-462. doi: 10.1038/s41390-019-0487-4. Epub 2019 Jul 2. Pediatr Res. 2020. PMID: 31266054
Cognitive Profiles and Brain Volume Are Affected in Patients with Silver-Russell Syndrome.
Patti G, De Mori L, Tortora D, Severino M, Calevo M, Russo S, Napoli F, Confalonieri L, Schiavone M, Thiabat HF, Casalini E, Morana G, Rossi A, Ramenghi LA, Maghnie M, Di Iorgi N. Patti G, et al. Among authors: maghnie m. J Clin Endocrinol Metab. 2020 Apr 1;105(4):dgz151. doi: 10.1210/clinem/dgz151. J Clin Endocrinol Metab. 2020. PMID: 31665337
287 results