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Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis.
Dentici ML, Niceta M, Lepri FR, Mancini C, Priolo M, Bonnard AA, Cappelletti C, Leoni C, Ciolfi A, Pizzi S, Cordeddu V, Rossi C, Ferilli M, Mucciolo M, Colona VL, Fauth C, Bellini M, Biasucci G, Sinibaldi L, Briuglia S, Gazzin A, Carli D, Memo L, Trevisson E, Schiavariello C, Luca M, Novelli A, Michot C, Sweertvaegher A, Germanaud D, Scarano E, De Luca A, Zampino G, Zenker M, Mussa A, Dallapiccola B, Cavé H, Digilio MC, Tartaglia M. Dentici ML, et al. Among authors: scarano e. Eur J Hum Genet. 2024 Jun 1. doi: 10.1038/s41431-024-01642-7. Online ahead of print. Eur J Hum Genet. 2024. PMID: 38824261
Endocrine features of Prader-Willi syndrome: a narrative review focusing on genotype-phenotype correlation.
Madeo SF, Zagaroli L, Vandelli S, Calcaterra V, Crinò A, De Sanctis L, Faienza MF, Fintini D, Guazzarotti L, Licenziati MR, Mozzillo E, Pajno R, Scarano E, Street ME, Wasniewska M, Bocchini S, Bucolo C, Buganza R, Chiarito M, Corica D, Di Candia F, Francavilla R, Fratangeli N, Improda N, Morabito LA, Mozzato C, Rossi V, Schiavariello C, Farello G, Iughetti L, Salpietro V, Salvatoni A, Giordano M, Grugni G, Delvecchio M. Madeo SF, et al. Among authors: scarano e. Front Endocrinol (Lausanne). 2024 Apr 26;15:1382583. doi: 10.3389/fendo.2024.1382583. eCollection 2024. Front Endocrinol (Lausanne). 2024. PMID: 38737552 Free PMC article. Review.
Safe and Informed Use of Gadolinium-Based Contrast Agent in Body Magnetic Resonance Imaging: Where We Were and Where We Are.
Iacobellis F, Di Serafino M, Russo C, Ronza R, Caruso M, Dell'Aversano Orabona G, Camillo C, Sabatino V, Grimaldi D, Rinaldo C, Barbuto L, Verde F, Giacobbe G, Schillirò ML, Scarano E, Romano L. Iacobellis F, et al. Among authors: scarano e. J Clin Med. 2024 Apr 10;13(8):2193. doi: 10.3390/jcm13082193. J Clin Med. 2024. PMID: 38673466 Free PMC article. Review.
Transition from pediatric to adult care in patients with Turner syndrome in Italy: a consensus statement by the TRAMITI project.
Aversa T, De Sanctis L, Faienza MF, Gambineri A, Balducci A, D'Aprile R, Di Somma C, Giavoli C, Grossi A, Meriggiola MC, Profka E, Salerno M, Stagi S, Scarano E, Zatelli MC, Wasniewska M. Aversa T, et al. Among authors: scarano e. J Endocrinol Invest. 2024 Feb 20. doi: 10.1007/s40618-024-02315-4. Online ahead of print. J Endocrinol Invest. 2024. PMID: 38376731
Additional booster doses in patients with chronic lymphocytic leukemia induce humoral and cellular immune responses to SARS-CoV-2 similar to natural infection regardless ongoing treatments: A study by ERIC, the European Research Initiative on CLL.
Campanella A, Capasso A, Heltai S, Taccetti C, Albi E, Herishanu Y, Haggenburg S, Chatzikonstantinou T, Doubek M, Kättström M, Giannopoulos K, Simkovic M, Moreno C, Massaia M, Bumbea H, Alshemmari S, Ranghetti P, Perotta E, Martini F, Sant'Antonio E, Colia M, Combi C, Levi S, Kater AP, Hazenberg M, Nijhof IS, Hofsink Q, Demosthenous C, Kotaskova J, Zaleska J, Vrbacky F, Raya AM, Bisogno D, Tripoli IE, Popov VM, Roman V, Stavroyianni N, Karypidou M, Scarano E, Locatelli M, Frenquelli M, Scarfò L, Stamatopoulos K, Ghia P. Campanella A, et al. Among authors: scarano e. Am J Hematol. 2024 Apr;99(4):745-750. doi: 10.1002/ajh.27218. Epub 2024 Jan 24. Am J Hematol. 2024. PMID: 38264829
Clinical and molecular description of the first Italian cohort of 33 subjects with hypophosphatasia.
Cinque L, Pugliese F, Salcuni AS, Trombetta D, Battista C, Biagini T, Augello B, Nardella G, Conti F, Corbetta S, Fischetto R, Foiadelli T, Gaudio A, Giannini C, Grosso E, Guabello G, Massuras S, Palermo A, Politano L, Pigliaru F, Ruggeri RM, Scarano E, Vicchio P, Cannavò S, Celli M, Petrizzelli F, Mastroianno M, Castori M, Scillitani A, Guarnieri V. Cinque L, et al. Among authors: scarano e. Front Endocrinol (Lausanne). 2023 Aug 1;14:1205977. doi: 10.3389/fendo.2023.1205977. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37600704 Free PMC article.
Lipid profile in Noonan syndrome and related disorders: trend by age, sex and genotype.
Tamburrino F, Mazzanti L, Scarano E, Gibertoni D, Sirolli M, Zioutas M, Schiavariello C, Perri A, Mantovani A, Rossi C, Tartaglia M, Pession A. Tamburrino F, et al. Among authors: scarano e. Front Endocrinol (Lausanne). 2023 Jul 31;14:1209339. doi: 10.3389/fendo.2023.1209339. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37588986 Free PMC article.
325 results