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Page 1
Identification of fifteen novel mutations in the SLC12A3 gene encoding the Na-Cl Co-transporter in Italian patients with Gitelman syndrome.
Syrén ML, Tedeschi S, Cesareo L, Bellantuono R, Colussi G, Procaccio M, Alì A, Domenici R, Malberti F, Sprocati M, Sacco M, Miglietti N, Edefonti A, Sereni F, Casari G, Coviello DA, Bettinelli A. Syrén ML, et al. Among authors: sacco m. Hum Mutat. 2002 Jul;20(1):78. doi: 10.1002/humu.9045. Hum Mutat. 2002. PMID: 12112667
Phenotypic variability in Bartter syndrome type I.
Bettinelli A, Ciarmatori S, Cesareo L, Tedeschi S, Ruffa G, Appiani AC, Rosini A, Grumieri G, Mercuri B, Sacco M, Leozappa G, Binda S, Cecconi M, Navone C, Curcio C, Syren ML, Casari G. Bettinelli A, et al. Among authors: sacco m. Pediatr Nephrol. 2000 Sep;14(10-11):940-5. doi: 10.1007/pl00013418. Pediatr Nephrol. 2000. PMID: 10975303
Identification of new variants of human BMP15 gene in a large cohort of women with premature ovarian failure.
Di Pasquale E, Rossetti R, Marozzi A, Bodega B, Borgato S, Cavallo L, Einaudi S, Radetti G, Russo G, Sacco M, Wasniewska M, Cole T, Beck-Peccoz P, Nelson LM, Persani L. Di Pasquale E, et al. Among authors: sacco m. J Clin Endocrinol Metab. 2006 May;91(5):1976-9. doi: 10.1210/jc.2005-2650. Epub 2006 Feb 7. J Clin Endocrinol Metab. 2006. PMID: 16464940
EEG Patterns in Patients with Prader-Willi Syndrome.
Elia M, Rutigliano I, Sacco M, Madeo SF, Wasniewska M, Li Pomi A, Trifirò G, Di Bella P, De Lucia S, Vetri L, Iughetti L, Delvecchio M. Elia M, et al. Among authors: sacco m. Brain Sci. 2021 Aug 6;11(8):1045. doi: 10.3390/brainsci11081045. Brain Sci. 2021. PMID: 34439664 Free PMC article.
Anthropometric characteristics of newborns with Prader-Willi syndrome.
Salvatoni A, Moretti A, Grugni G, Agosti M, Azzolini S, Bonaita V, Cianci P, Corica D, Crinò A, Delvecchio M, Ferraris S, Greggio NA, Iughetti L, Licenziati MR, Madeo SF, Nosetti L, Pajno R, Rutigliano I, Sacco M, Salvatore S, Scarano E, Trifirò G, Wasniewska M. Salvatoni A, et al. Among authors: sacco m. Am J Med Genet A. 2019 Oct;179(10):2067-2074. doi: 10.1002/ajmg.a.61304. Epub 2019 Jul 30. Am J Med Genet A. 2019. PMID: 31361394
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: sacco m. Front Pediatr. 2022 Feb 14;10:829486. doi: 10.3389/fped.2022.829486. eCollection 2022. Front Pediatr. 2022. PMID: 35237541 Free PMC article.
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: sacco m. 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
Caring and living with Prader-Willi syndrome in Italy: integrating children, adults and parents' experiences through a multicentre narrative medicine research.
Ragusa L, Crinò A, Grugni G, Reale L, Fiorencis A, Licenziati MR, Faienza MF, Wasniewska M, Delvecchio M, Franzese A, Rutigliano I, Fusilli P, Corica D, Campana G, Greco D, Chiarito M, Sacco M, Toscano S, Marini MG. Ragusa L, et al. Among authors: sacco m. BMJ Open. 2020 Aug 6;10(8):e036502. doi: 10.1136/bmjopen-2019-036502. BMJ Open. 2020. PMID: 32764084 Free PMC article.
560 results