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Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.
Brioude F, Kalish JM, Mussa A, Foster AC, Bliek J, Ferrero GB, Boonen SE, Cole T, Baker R, Bertoletti M, Cocchi G, Coze C, De Pellegrin M, Hussain K, Ibrahim A, Kilby MD, Krajewska-Walasek M, Kratz CP, Ladusans EJ, Lapunzina P, Le Bouc Y, Maas SM, Macdonald F, Õunap K, Peruzzi L, Rossignol S, Russo S, Shipster C, Skórka A, Tatton-Brown K, Tenorio J, Tortora C, Grønskov K, Netchine I, Hennekam RC, Prawitt D, Tümer Z, Eggermann T, Mackay DJG, Riccio A, Maher ER. Brioude F, et al. Among authors: mussa a. Nat Rev Endocrinol. 2018 Apr;14(4):229-249. doi: 10.1038/nrendo.2017.166. Epub 2018 Jan 29. Nat Rev Endocrinol. 2018. PMID: 29377879 Free PMC article. Review.
Remittent hyperammonemia in congenital portosystemic shunt.
Ferrero GB, Porta F, Biamino E, Mussa A, Garelli E, Chiappe F, Veltri A, Silengo MC, Gennari F. Ferrero GB, et al. Among authors: mussa a. Eur J Pediatr. 2010 Mar;169(3):369-72. doi: 10.1007/s00431-009-1031-z. Epub 2009 Jul 18. Eur J Pediatr. 2010. PMID: 19618212
The overlap between Sotos and Beckwith-Wiedemann syndromes.
Mussa A, Chiesa N, Porta F, Baldassarre G, Silengo MC, Ferrero GB. Mussa A, et al. J Pediatr. 2010 Jun;156(6):1035-1036. doi: 10.1016/j.jpeds.2010.02.063. Epub 2010 Apr 14. J Pediatr. 2010. PMID: 20394943 No abstract available.
Prenatal features of Noonan syndrome: prevalence and prognostic value.
Baldassarre G, Mussa A, Dotta A, Banaudi E, Forzano S, Marinosci A, Rossi C, Tartaglia M, Silengo M, Ferrero GB. Baldassarre G, et al. Among authors: mussa a. Prenat Diagn. 2011 Oct;31(10):949-54. doi: 10.1002/pd.2804. Epub 2011 Jul 11. Prenat Diagn. 2011. PMID: 21744363
The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith-Wiedemann syndrome and Silver-Russell syndrome cases.
Chiesa N, De Crescenzo A, Mishra K, Perone L, Carella M, Palumbo O, Mussa A, Sparago A, Cerrato F, Russo S, Lapi E, Cubellis MV, Kanduri C, Cirillo Silengo M, Riccio A, Ferrero GB. Chiesa N, et al. Among authors: mussa a. Hum Mol Genet. 2012 Jan 1;21(1):10-25. doi: 10.1093/hmg/ddr419. Epub 2011 Sep 14. Hum Mol Genet. 2012. PMID: 21920939 Free PMC article.
Prevalence of Beckwith-Wiedemann syndrome in North West of Italy.
Mussa A, Russo S, De Crescenzo A, Chiesa N, Molinatto C, Selicorni A, Richiardi L, Larizza L, Silengo MC, Riccio A, Ferrero GB. Mussa A, et al. Am J Med Genet A. 2013 Oct;161A(10):2481-6. doi: 10.1002/ajmg.a.36080. Epub 2013 Aug 5. Am J Med Genet A. 2013. PMID: 23918458
339 results