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Page 1
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: osimani s. 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.
Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome.
Bonaglia MC, Giorda R, Beri S, De Agostini C, Novara F, Fichera M, Grillo L, Galesi O, Vetro A, Ciccone R, Bonati MT, Giglio S, Guerrini R, Osimani S, Marelli S, Zucca C, Grasso R, Borgatti R, Mani E, Motta C, Molteni M, Romano C, Greco D, Reitano S, Baroncini A, Lapi E, Cecconi A, Arrigo G, Patricelli MG, Pantaleoni C, D'Arrigo S, Riva D, Sciacca F, Dalla Bernardina B, Zoccante L, Darra F, Termine C, Maserati E, Bigoni S, Priolo E, Bottani A, Gimelli S, Bena F, Brusco A, di Gregorio E, Bagnasco I, Giussani U, Nitsch L, Politi P, Martinez-Frias ML, Martínez-Fernández ML, Martínez Guardia N, Bremer A, Anderlid BM, Zuffardi O. Bonaglia MC, et al. Among authors: osimani s. PLoS Genet. 2011 Jul;7(7):e1002173. doi: 10.1371/journal.pgen.1002173. Epub 2011 Jul 14. PLoS Genet. 2011. PMID: 21779178 Free PMC article.
Multicentric Italian case-control study on 25OH vitamin D levels in children and adolescents with Prader-Willi syndrome.
Panfili FM, Convertino A, Grugni G, Mazzitelli L, Bocchini S, Crinò A, Campana G, Cappa M, Delvecchio M, Faienza MF, Licenziati MR, Mariani M, Osimani S, Pajno R, Patti G, Rutigliano I, Sacco M, Scarano E, Fintini D; on behalf of the Genetic Obesity Study Group of the Italian Society of Pediatric Endocrinology and Diabetology (ISPED). Panfili FM, et al. Among authors: osimani s. J Endocrinol Invest. 2023 Jul;46(7):1397-1406. doi: 10.1007/s40618-022-01990-5. Epub 2023 Jan 28. J Endocrinol Invest. 2023. PMID: 36708456
The Hyperphagia Questionnaire: Insights From a Multicentric Validation Study in Individuals With Prader Willi Syndrome.
Licenziati MR, Bacchini D, Crinò A, Grugni G, Fintini D, Osimani S, Ragusa L, Sacco M, Iughetti L, De Sanctis L, Franzese A, Wasniewska MG, Faienza MF, Delvecchio M, Esposito C, Valerio G. Licenziati MR, et al. Among authors: osimani s. Front Pediatr. 2022 Feb 14;10:829486. doi: 10.3389/fped.2022.829486. eCollection 2022. Front Pediatr. 2022. PMID: 35237541 Free PMC article.
Stimulated GH levels during the transition phase in Prader-Willi syndrome.
Grugni G, Marzullo P, Delvecchio M, Iughetti L, Licenziati MR, Osimani S, Ragusa L, Salvatoni A, Sartorio A, Stagi S, Crinò A; Genetic Obesity Study Group of the Italian Society of Pediatric Endocrinology and Diabetology (ISPED). Grugni G, et al. Among authors: osimani s. J Endocrinol Invest. 2021 Jul;44(7):1465-1474. doi: 10.1007/s40618-020-01450-y. Epub 2020 Oct 23. J Endocrinol Invest. 2021. PMID: 33095904
Uniparental disomy and pretreatment IGF-1 may predict elevated IGF-1 levels in Prader-Willi patients on GH treatment.
Palmieri VV, Lonero A, Bocchini S, Cassano G, Convertino A, Corica D, Crinò A, Fattorusso V, Ferraris S, Fintini D, Franzese A, Grugni G, Iughetti L, Lia R, Macchi F, Madeo SF, Matarazzo P, Nosetti L, Osimani S, Pajno R, Patti G, Pellegrin MC, Perri A, Ragusa L, Rutigliano I, Sacco M, Salvatoni A, Scarano E, Stagi S, Tornese G, Trifirò G, Wasniewska M, Fischetto R, Giordano P, Licenziati MR, Delvecchio M; Genetic Obesity Study Group of the Italian Society of Pediatric Endocrinology and Diabetology. Palmieri VV, et al. Among authors: osimani s. Growth Horm IGF Res. 2019 Oct-Dec;48-49:9-15. doi: 10.1016/j.ghir.2019.08.003. Epub 2019 Aug 28. Growth Horm IGF Res. 2019. PMID: 31487604
Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.
Verloes A, Di Donato N, Masliah-Planchon J, Jongmans M, Abdul-Raman OA, Albrecht B, Allanson J, Brunner H, Bertola D, Chassaing N, David A, Devriendt K, Eftekhari P, Drouin-Garraud V, Faravelli F, Faivre L, Giuliano F, Guion Almeida L, Juncos J, Kempers M, Eker HK, Lacombe D, Lin A, Mancini G, Melis D, Lourenço CM, Siu VM, Morin G, Nezarati M, Nowaczyk MJ, Ramer JC, Osimani S, Philip N, Pierpont ME, Procaccio V, Roseli ZS, Rossi M, Rusu C, Sznajer Y, Templin L, Uliana V, Klaus M, Van Bon B, Van Ravenswaaij C, Wainer B, Fry AE, Rump A, Hoischen A, Drunat S, Rivière JB, Dobyns WB, Pilz DT. Verloes A, et al. Among authors: osimani s. Eur J Hum Genet. 2015 Mar;23(3):292-301. doi: 10.1038/ejhg.2014.95. Epub 2014 Jul 23. Eur J Hum Genet. 2015. PMID: 25052316 Free PMC article.
A long-term competent chimeric immune system in a dizygotic dichorionic twin.
Biran V, Bornes M, Aboura A, Masmoudi S, Drunat S, Baumann C, Osimani S, Dalle JH, Sterkers G, Verloes A, Farnoux C, Maury L, Schmitz T, Khung S, Baud O. Biran V, et al. Among authors: osimani s. Pediatrics. 2011 Aug;128(2):e458-63. doi: 10.1542/peds.2010-3557. Epub 2011 Jul 11. Pediatrics. 2011. PMID: 21746725
Craniosynostosis: A rare complication of pycnodysostosis.
Osimani S, Husson I, Passemard S, Elmaleh M, Perrin L, Quelin C, Marey I, Delalande O, Filocamo M, Verloes A. Osimani S, et al. Eur J Med Genet. 2010 Mar-Apr;53(2):89-92. doi: 10.1016/j.ejmg.2009.12.001. Epub 2010 Jan 5. Eur J Med Genet. 2010. PMID: 20044043