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Defining the variant-phenotype correlation in patients affected by Noonan syndrome with the RAF1:c.770C>T p.(Ser257Leu) variant.
Gazzin A, Fornari F, Niceta M, Leoni C, Dentici ML, Carli D, Villar AM, Calcagni G, Banaudi E, Massuras S, Cardaropoli S, Airulo E, Daniele P, Monda E, Limongelli G, Riggi C, Zampino G, Digilio MC, De Luca A, Tartaglia M, Ferrero GB, Mussa A. Gazzin A, et al. Among authors: mussa a. Eur J Hum Genet. 2024 Aug;32(8):964-971. doi: 10.1038/s41431-024-01643-6. Epub 2024 Jun 1. Eur J Hum Genet. 2024. PMID: 38824260
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
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
Thyroid involvement in two patients with Bannayan-Riley-Ruvalcaba syndrome.
Peiretti V, Mussa A, Feyles F, Tuli G, Santanera A, Molinatto C, Ferrero GB, Corrias A. Peiretti V, et al. Among authors: mussa a. J Clin Res Pediatr Endocrinol. 2013;5(4):261-5. doi: 10.4274/Jcrpe.984. J Clin Res Pediatr Endocrinol. 2013. PMID: 24379037 Free PMC article.
361 results